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1. How to read your Promethease report?

To read your Promethease review report you will need to ensure that you are accustomed to some of the terms that are found in their report like magnitude and repute. It is difficult to sift through thousands of pages in your report. Once you organize the pages as per your unique needs it becomes a relatively easy task to. 

2. What is Promethease?

Promethease allows users to analyze their genetic data and compare personal genomics results against the SNPedia database. SNPedia is a wiki-styled genetic data repository. 

Though popular, it is often criticized for being too technical and difficult to read. You can take a look at Promethease's sample report here.

Promethease is a do-it-yourself (DIY) tool for health genetic information from 23andMe raw data. It is a third party online tool that provides consumers information about their genetic variants and how they affect your health. After 23andme FDA ban on providing health reports, people started using tools like Promethease to get more information from their DNA raw data, other than just locating distant cousins. Though Promethease is a good tool built on a repository like SNPedia there are a number of factors to consider before you decide to upload your raw data to Promethease. Promethease is popular as a low-cost offering, but it’s also very technical and disease-centric. There are many alternatives to Promethease to analyze your 23andme raw data, that are easy to follow and understand. Below we present a feature by feature comparison between Promethease and Xcode Life Sciences.

3. How did Promethease gain popularity?

Promethease was one of the early companies to offer DNA raw data analysis based on 23andMe, Ancestry DNA raw data. 

What is DNA Raw Data?

A DNA raw data is a file that contains information about your genetic variants. These are called single nucleotide polymorphisms or SNPs and account for the differences in different traits like eye and hair color, height, and skin pigmentation across individuals. Your ancestry DNA raw data is a lab-generated text file. It is usually in the following two formats

The whole-genome files have a size of 80-90 GB (30x). All the top consumer genetic testing companies like 23andMe, AncestryDNA, Family Tree DNA enable their customers to [download their raw data](https://www.xcode.life/23andme-raw-data/download-23andme-dna-raw-data-third-3rd-party-tool) directly from the website or request a download. 

The raw data from different ancestry DNA testing companies have different numbers of genetic markers depending on the microarray chip used. For example, the 23andMe raw data has around 650,000 SNPs in its v5 chip and AncestryDNA has around 700,000 SNPs

When the FDA (briefly) banned 23andMe from providing health reports, Promethease was the only alternative and gained popularity because of its free service and low turnaround time.

Promethease is criticized for its user-unfriendly interface based on several user reviews. Some well-known competitors for this tool are Xcode Life, Codegen, Interpretive, Nutrahacker, and GEDMatch.

Update: In 2019, MyHeritage Acquired Promethease and SNPedia.

MyHeritage offered Promethease free of charge through the end of 2019 and continues to maintain SNPedia as a free resource for academic and non-profit users. The raw data of Non-European users has been shifted to MyHeritage into new accounts created for them. However, users retain ownership of their DNA raw data file and are free to delete it from MyHeritage's server.

4. How long does it take to get my Promethease reports?

Promethease takes approximately 20 minutes to generate health report from your raw data.

5. What does Promethease provide?

Promethease offers health reports based on 23andme, Ancestry DNA, Family Tree DNA, and other ancestry raw DNA data providers for a price of $12. Once you upload your DNA raw data, you will get your report in about 20 minutes.

Earlier, the reports were offered free or at a discount. So many users tried them due to the free/low-cost aspect and the high accuracy that the vastness of their content seemed to imply. However, the reports left individuals more confused than clear. 

So if you have a Promethease report that you still cannot make heads or tails of, read on.

6. What exactly do you get to know from a Promethease report?

Promethease is a wiki-style collection of peer-curated genetic information in contrast to expert-curated reports like Xcode Life's reports. You can search genes/variants/diseases as you would on Wikipedia. The results are pages of information. This is great for people who have degrees in genetics and want to learn about all the diseases they can get.

However, if you want organized information that you can use in specific aspects of your daily life, such as Nutrition, Fitness, or Ancestry, to enhance your health and wellbeing, then you may not find the Promethease reports all that helpful. Promethease's emphasis seems to be largely on the different diseases that one can get.

7. How to read my Promethease report?

Once you transfer your DNA raw data to Promethease, you will get a lengthy report. Though it may look like a massive report on the face of it, the amount of potentially useful information in the Promethease report is quite limited. Understanding and interpreting this report is a challenge. 

Let's break it down:

The total number of entries in a typical Promethease report = Approximately 25,000

Number of entries

The "Summary" component of the Promethease report is where the information pertaining to your genotype is given. This column, for the vast majority of the entries, has information that will not be useful to most people. It contains many terms that carry no useful information for the regular user.

The number of entries remaining after removing empty entries (no annotation) and terms such as "common in ClinVar," "common on affy axiom," "none," and "complete genomics,"," is 1482.

On further removal of more such terms (normal, common, etc.), you will be left with ~800 entries.

> So, only about 800 entries out of 25,000 (~ 3%) are potentially informative entries in the Promethease report.

8. Will getting the health test from 23andme give me better results?

A lot of people think that getting the additional health report from 23andme will help them get better results. That is not true! Whether you order the Health report or the Ancestry report from 23andme, the raw data you receive is the same!

9. How does Promethease work?

This third party DNA raw data analysis tool, is a literature retrieval system from SNPedia which is a Wikipedia style repository where people can add information. It is not a systematic risk assessment tool. For example, for Alzheimer’s disease (AD), you will not get a summary of your risk for developing AD. Instead, you will get a list of scientific literature that is available that indicates or does not indicate your risk for AD for a specific variant. For a particular disease or trait, if there are 15 articles that report on that particular DNA location, based on your SNPs 2 information sources might indicate an increased risk, 5 might be neutral, and 3 towards the lower side. Promethease does not summarise these for you. Rather it returns all these 10 articles and makes you do the interpreting yourself. This is the major reason why many individuals are alarmed and confused by their Promethease report.

10. How accurate is Promethease?

The vast majority of human traits are polygenic, meaning, several genes contribute towards that trait. Even if one carries a disease variant, they may also be carrying variants that reduce the risk of disease. Even in the case of Monogenic conditions- where one single gene leads to disease, scientist have found individuals carrying these deadly mutations but apparently healthy with no sign of disease. In a majority of the cases, the genetic risk is a small contributor towards the overall risk of that disease/condition. So, one must consider all of these things in interpreting their report. 

11. Where does Promethease get all its information?

Promethease only relies on SNPedia. Several other notable and high scientific authority tools are left out from the Promethease reports.

12. How do I filter through the Promethease report?

It is impractical to sift through the dump of information that you get (anticipate about 48,000 rows of data). The tool is equipped with different kinds of filters aimed at assisting you. Some of them are gene names, haplogroup names, diseases, drug names (referred to as “medicines”), medical conditions, names of genes and race.

13. What is magnitude in Promethease?

Magnitude is a subjective parameter that measures the interest level of the information. Here is the table partially resourced from the SNPedia website that describes what each numerical value indicates.

A-CD-FG-HI-NO-Z
3 beta-Hydroxysteroid dehydrogenase deficiencyDeafness, autosomal recessive 77Glucose-6-phosphate dehydrogenase (G6PD) deficiencyInclusion Body Myopathy 2Ornithine aminotransferase deficiency
3-Phosphoglycerate Dehydrogenase DeficiencyDeficiency of acetyl-CoA acetyltransferaseGalactosylceramide beta-galactosidase deficiencyInfantile Sialic acid storage disease; Salla diseaseOrnithine carbamoyltransferase deficiency
AbetalipoproteinaemiaDeficiency of alpha-mannosidaseGaucher diseaseIsovaleryl-CoA dehydrogenase deficiencyPartial adenosine deaminase deficiency
Achondrogenesis, type IB; Multiple epiphyseal dysplasia type 4; Atelosteogenesis type II; Diastrophic dysplasiaDeficiency of galactokinaseGitelman SyndromeJoubert Syndrome 2 / Meckel Syndrome 2Pendred syndrome
AchromatopsiaDeficiency of guanidinoacetate methyltransferaseGlutaric acidemia type 1Joubert syndrome 28Peroxisomal acyl-CoA oxidase deficiency
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteinsDeficiency of hydroxymethylglutaryl-CoA lyaseGlutaric acidemia type 2AJoubert syndrome 5Phenylketonuria
Acyl-CoA dehydrogenase family, member 9 deficiencyDeficiency of steroid 11-beta-monooxygenaseGlutaric acidemia type 2CJoubert syndrome 7Phosphoribosylpyrophosphate synthetase superactivity
AdrenoleukodystrophyDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferaseGlycine encephalopathy (AMT-related)Junctional epidermolysis bullosa (LAMA3 related)Polyglandular autoimmune syndrome, type 1
Adult polyglucosan body neuropathyDihydrolipoamide dehydrogenase deficiencyGlycine encephalopathy (GLDC-related)Junctional epidermolysis bullosa (LAMB3 related)Polymicrogyria
Aicardi Goutieres syndrome 5Duchenne muscular dystrophyGlycogen storage disease due to glucose-6-phosphatase deficiency type IAJunctional epidermolysis bullosa (LAMC2 related)Pontocerebellar hypoplasia type 1A
Alpha thalassemia-X-linked intellectual disability syndromeDyskeratosis congenita, autosomal recessive, 5Glycogen storage disease type 1BJuvenile retinoschisisPontocerebellar hypoplasia type 2D
Alport Syndrome (COL4A3-related)Dystrophic epidermolysis bullosaGlycogen storage disease type 2Lamellar Ichthyosis, Type 1Pontocerebellar hypoplasia type 6
Alport Syndrome (COL4A4-related)Ehlers-Danlos syndrome dermatosparaxis typeGlycogen storage disease type 3Laminin alpha 2-related dystrophyPrimary carnitine deficiency
Alport Syndrome, X-linked (COL4A5-related)Ellis-van Creveld syndrome (EVC-related)Glycogen storage disease type 4Laryngo-onycho-cutaneous syndromePrimary Ciliary Dyskinesia (DNAH11-related)
Alstrom syndromeEllis-van Creveld syndrome (EVC2-related)Glycogen storage disease type 5Leber congenital amaurosis 10Primary Ciliary Dyskinesia (DNAH5-related)
Anauxetic dysplasia; Cartilage-hair hypoplasia; Metaphyseal dysplasia without hypotrichosisEmery-Dreifuss muscular dystrophy, X-linkedGlycogen storage disease type 7Leber congenital amaurosis 13Primary Ciliary Dyskinesia (DNAI1-related)
Andermann SyndromeEnhanced s-cone syndromeGRACILE syndrome/ BCS1L-related disordersLeber congenital amaurosis 2Primary Ciliary Dyskinesia (DNAI2-related)
Arginase deficiencyEthylmalonic encephalopathyHemochromatosis type 2ALeber congenital amaurosis 5Primary hyperoxaluria type I
Argininosuccinate lyase deficiencyFabry diseaseHemochromatosis type 3Leber congenital amaurosis 8Primary hyperoxaluria type II
Aromatase deficiencyFamilial dysautonomiaHereditary acrodermatitis enteropathicaLeigh syndrome, French Canadian typePrimary hyperoxaluria type III
Arthrogryposis, mental retardation, and seizuresFamilial hypercholesterolemia (LDLR related)Hereditary factor IX deficiency diseaseLethal congenital contracture syndromeProgressive familial intrahepatic cholestasis 2
Arts syndromeFamilial hypercholesterolemia (LDLRAP1 related)Hereditary fructosuriaLeukoencephalopathy with vanishing white matterPropionic acidemia (PCCA related)
Asparagine synthetase deficiencyFamilial Hyperinsulinism, ABCC8-RelatedHereditary insensitivity to pain with anhidrosisLimb-girdle muscular dystrophy type 2APropionic acidemia (PCCB related)
AspartylglucosaminuriaFamilial isolated deficiency of vitamin EHereditary spastic paraplegia 15Limb-girdle muscular dystrophy type 2BPyknodysostosis
Ataxia-telangiectasia syndromeFanconi anemia type AHermansky-Pudlak syndrome type 1Limb-girdle muscular dystrophy type 2CPyruvate carboxylase deficiency
Autosomal recessive osteopetrosis 1Fanconi anemia type CHermansky-Pudlak syndrome type 3Limb-girdle muscular dystrophy type 2DPyruvate dehydrogenase E1-alpha deficiency
Autosomal recessive polycystic kidney diseaseFanconi anemia type GHolocarboxylase synthetase deficiencyLimb-girdle muscular dystrophy type 2EPyruvate dehydrogenase E1-beta deficiency
Bardet-Biedl syndrome 1Fetal akinesia deformation sequenceHomocystinuria (CBS related)Limb-girdle muscular dystrophy type 2FRenal tubular acidosis with progressive nerve deafness
Bardet-Biedl syndrome 10Finnish congenital nephrotic syndromeHomocystinuria due to MTHFR deficiencyLong-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyRetinitis pigmentosa 20
Bardet-Biedl syndrome 12Fragile X syndromeHomocystinuria, cobalamin E typeLysinuric protein intoleranceRetinitis pigmentosa 25
Bardet-Biedl syndrome 13Fukuyama congenital muscular dystrophyHydrolethalus syndromeLysosomal acid lipase deficiencyRetinitis pigmentosa 26
Bardet-Biedl syndrome 14Fumarase deficiencyHyperlipoproteinemia, type IMaple syrup urine disease type 1ARetinitis pigmentosa 28
Bardet-Biedl syndrome 2Hyperornithinemia-hyperammonemia-homocitrullinuria syndromeMaple syrup urine disease type 1BRetinitis pigmentosa 59
Bare lymphocyte syndrome 2Hypohidrotic X-linked ectodermal dysplasiaMaple syrup urine disease type 2Retinitis pigmentosa 73
Bartter disease type 4aHypophosphatasiaMeckel-Gruber syndromeRetinitis pigmentosa 76
BH4-deficient hyperphenylalaninemia AMeckel syndrome type 1Rhizomelic chondrodysplasia punctata type 1/ Refsum disease (PEX7-related)
Bifunctional peroxisomal enzyme deficiencyMeckel syndrome type 4Rhizomelic chondrodysplasia punctata type 3
Bloom syndromeMeckel syndrome, type 5Roberts-SC phocomelia syndrome
Canavan DiseaseMedium-chain acyl-coenzyme A dehydrogenase deficiencySandhoff disease
Carnitine palmitoyltransferase I deficiencyMegalencephalic leukoencephalopathy with subcortical cysts 1Schimke immuno-osseous dysplasia
Carnitine palmitoyltransferase II deficiencyMenkes kinky-hair syndromeSegawa syndrome
Carpenter syndrome 1Metachromatic leukodystrophy (ARSA related)Senior-Loken syndrome 6
Cerebrotendinous xanthomatosisMetachromatic leukodystrophy due toSevere combined immunodeficiency (RAG2-related)
Charcot-Marie-Tooth disease type 4Dsaposin-b deficiencySevere combined immunodeficiency due to ADA deficiency
Charcot-Marie-Tooth disease, X-linkedMethylmalonic acidemia (MMAA related)Severe combined immunodeficiency due to DCLRE1C deficiency
Charcot-Marie-Tooth Neuropathy XMethylmalonic acidemia (MMAB related)Severe combined immunodeficiency, X-linked
Charlevoix-Saguenay spastic ataxiaMethylmalonic Aciduria and Homocystinuria, Type cblCSevere congenital neutropenia 3
ChoreoacanthocytosisMethylmalonic Aciduria and Homocystinuria, Type cblDSevere congenital neutropenia 5, autosomal recessive
ChoroideremiaMicrocephaly, postnatal progressive, with seizures and brain atrophySevere X-linked myotubular myopathy
Chronic granulomatous disease (CYBA related)Microphthalmia /clinical anophthalmia (VSX2-related)Sjögren-Larsson syndrome
Chronic granulomatous disease, X-linkedMitochondrial complex I deficiency/ Leigh syndrome (NDUFAF5-related)Smith-Lemli-Opitz syndrome
Citrin deficiencyMitochondrial complex I deficiency/ Leigh syndrome (NDUFAF6-related)Spastic paraplegia 49, autosomal recessive
Citrullinemia type IMitochondrial DNA depletion syndrome 1 (MNGIE type)Spinal muscular atrophy
Cockayne syndrome type AMPV17-related mitochondrial DNA maintenance defectSpondylocostal dysostosis
Cockayne syndrome type BMucolipidosis type IISteel syndrome
Cohen syndromeMucolipidosis type III gammaStuve-Wiedemann Syndrome
Combined malonic and methylmalonic aciduriaMucolipidosis type IVTay-Sachs disease
Combined oxidative phosphorylation deficiency 1Mucopolysaccharidosis type I (Hurler syndrome)Tooth agenesis, selective, 4; Odonto-onycho-dermal dysplasia; Schopf-Schulz-Passarge syndrome
Combined oxidative phosphorylation deficiency 3Mucopolysaccharidosis type II (Hurler syndrome)Tyrosinemia type I
Combined Pituitary Hormone Deficiency-2Mucopolysaccharidosis type IIIATyrosinemia type II
Combined Pituitary Hormone Deficiency-3Mucopolysaccharidosis type IIIB (Sanfilippo B)Usher syndrome type 1B
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiencyMucopolysaccharidosis type IIICUsher syndrome type 1C
Congenital adrenal hyperplasia due to 21-hydroxylase deficiencyMucopolysaccharidosis type IIIDUsher syndrome type 1D
Congenital Adrenal HyperplasiaMucopolysaccharidosis type IVB (Morquio B syndrome)/ GM1 gangliosidosisUsher syndrome type 1F
Congenital amegakaryocytic thrombocytopeniaMucopolysaccharidosis type IXUsher syndrome type 2A
Congenital bilateral aplasia of vas deferens from CFTR mutationMucopolysaccharidosis type VIUsher syndrome type 3A
Congenital disorder of glycosylation type 1AMultiple sulfatase deficiencyVery long-chain acyl-CoA dehydrogenase deficiency
Congenital disorder of glycosylation type 1BMuscular dystrophy-dystroglycanopathy, FKTN-relatedWalker-Warburg congenital muscular dystrophy
Congenital disorder of glycosylation type 1CMyopathy, lactic acidosis, and sideroblastic anemia 1Werdnig-Hoffmann disease
Congenital hyperammonemia, type IN-acetylglutamate Synthase DeficiencyWilson disease
Congenital HyperinsulinismNemaline myopathy 2Xeroderma pigmentosum group A
Congenital muscular dystrophy-dystroglycanopathyNephrogenic diabetes insipidusXeroderma pigmentosum, group C
Congenital myasthenic syndromeNephrotic syndrome, idiopathic, steroid-resistantZellweger spectrum disorder (PEX1-related)
Congenital myasthenic syndrome (CHRNE)Neuronal ceroid lipofuscinosis 1Zellweger spectrum disorder (PEX10-related)
Corneal dystrophy-perceptive deafness syndromeNeuronal ceroid lipofuscinosis 2Zellweger spectrum disorder (PEX12-related)
Corneal endothelial dystrophyNeuronal ceroid lipofuscinosis 3Zellweger spectrum disorder (PEX2-related)
Corticosterone Methyloxidase DeficiencyNeuronal ceroid lipofuscinosis 5Zellweger spectrum disorder (PEX6-related)
Costeff Syndrome (3-Methylglutaconic Aciduria, Type 3)Neuronal ceroid lipofuscinosis 6
Creatine transporter deficiencyNeuronal ceroid lipofuscinosis 7
Cystic fibrosisNeuronal ceroid lipofuscinosis 8
CystinosisNiemann-Pick disease type C1
Niemann-Pick disease type C2
Niemann-Pick Disease, Types A/B
Nijmegen breakage syndrome
Nonsyndromic hearing loss and deafness

14. What is Promethease repute?

Good repute: The variation has a positive influence on you.

Not set: There is no verified information on the nature of the variation.

Bad repute: The variation has a negative influence on you.

According to the SNPedia website, it is better to leave the repute as “Not Set” as all genotypes have a little of both the “good” and “bad” repute.

15. What are ClinVar diseases?

This option allows you to see only the SNPs present in ClinVar. ClinVar is a freely accessible public archive of information on genetic variations specifically with clinical implications. It is maintained by the National Institute of Health (NIH). When you filter using this option you will find all the medical conditions that have been formally labeled by ClinVar.

16. How is Xcode Life different from Promethease?

How is Xcode Life Report different from the Promethease report?

Xcode Life puts together expert-curated references of variant annotations from several large databases and leading scientific journals. 

The information is then organized systematically into topical reports such as Nutrition, Health, Fitness, Skin, Allergy, Ancestry, etc. 

Each report is further organized into traits, which provide actionable insights into your genetic type along with specific recommendations. Xcode reports are easily readable, understandable, and implementable. 

The core philosophy of Xcode reports, in contrast to Promethease's voluminous coverage of diseases, is to empower the user with actionable genetic information that they can use to enhance health and wellbeing. Each report is reasonably priced at around $20; additionally, there are package discounts if the user buys multiple reports together.

If you are not looking for anything specific and just want to satisfy your curiosity, then Promethease may be the way to go. Even then, it is very likely that you will be left scratching your head with a vast load of information that you can't make sense of. But, if you want specific, organized, and actionable insights from your genetic data about your health and wellbeing, then you certainly must try the Xcode Health reports.

Drug (A-C)GeneGuidelinesDrug (D-N)GeneGuidelinesDrug (O-Z)GeneGuidelines
(R)-methadone;(S)-EDDP;methadoneUGT2B7PGXDabigatranCES1PGXo-desmethyltramadol;tramadolRFPL4BPGX
3,4-methylenedioxymethamphetamineSLC6A2PGXdaclatasvir;peginterferon alfa-2a;peginterferon alfa-2b;ribavirinIFNL3;IFNL4PGXolanzapineABCB1PGX
abacavirHLA-BCPICdalcetrapibADCY9PGXolanzapineBDNFPGX
abacavirHLA-BDPWGdapsoneHLA-DRB1PGXolanzapineGIPRPGX
abacavirHLA-BFDAdaptomycinABCB1PGXolanzapine;perphenazineRGS4PGX
abacavirLST1;LTA;LTBPGXdarifenacinCYP2D6FDAolanzapine;risperidoneDRD2PGX
abiraterone;prednisoloneDSE;TSPYL1PGXdasatinib;imatinibABCG2PGXolanzapine;risperidoneHTR2APGX
ABT-751UGT1A4PGXdasatinib;imatinib;nilotinibABCG2PGXomeprazoleCYP2C19CPIC
acamprosateGRIN2BPGXdaunorubicinNOS3PGXomeprazoleCYP2C19DPWG
Ace Inhibitors;PlainXPNPEP2PGXdebrisoquineCYP2D6PGXomeprazoleCYP2C19FDA
Ace Inhibitors;Plain;Angiotensin II Antagonists;Beta Blocking Agents;digoxin;diuretics;spironolactoneADRB2PGXdeferasiroxABCG2PGXomeprazoleABCB1PGX
Ace Inhibitors;Plain;Angiotensin II Antagonists;Beta Blocking Agents;digoxin;diuretics;spironolactoneNOS3PGXdeferasiroxUGT1A3PGXondansetronCYP2D6CPIC
acenocoumarolCYP4F2PGXdeferiproneUGT1A6PGXondansetronABCB1PGX
acenocoumarolVKORC1PGXdeleobuvir;faldaprevirIFNL3;IFNL4PGXOpioid anesthetics;Other general anesthetics;volatile anestheticsOPRM1PGX
acenocoumarol;phenprocoumonVKORC1PGXdesfluraneCACNA1SPGXopioidsOPRM1PGX
acenocoumarol;warfarinAPOEPGXdesflurane;enflurane;halothane;isoflurane;methoxyflurane;sevoflurane;succinylcholineRYR1PGXOpium alkaloids and derivativesCHRNA3PGX
acetaldehydeALDH2PGXdesipramineCYP2D6CPICOpium alkaloids and derivativesCHRNA5PGX
acetaldehydePGM1PGXdesipramineCYP2D6FDAoseltamivirABCB1PGX
acetaminophenTRPV1PGXdesipramineMC1RPGXoxaliplatinABCB1PGX
acetaminophenUGT1APGXdesloratadineHRH1PGXoxazepamUGT2B15PGX
acetaminophen;aspirin;diclofenac;propionic acid derivatives;PyrazolonesPLA2G4APGXdesloratadine;mizolastineFCER1APGXoxcarbazepineHLA-BCPIC
acetaminophen;ibuprofen;loxoprofen;salicylamidePGXdeutetrabenazineCYP2D6FDAoxcarbazepineHLA-BFDA
acetaminophen;tramadolOPRM1PGXdexamethasoneSERPINE1PGXoxcarbazepineABCB1PGX
acetylcholineACEPGXdexamethasone;doxorubicin;vincristineABCB1PGXoxycodoneCOMTPGX
acetylcysteineTOLLIPPGXdexamethasone;lenalidomideABCB1PGXpaclitaxelABCB1PGX
adalimumabATG16L1PGXdexlansoprazoleCYP2C19CPICpaclitaxel;Platinum compoundsCASP7PGX
adalimumabHFEPGXdexlansoprazoleCYP2C19FDApaliperidoneMC4RPGX
adalimumab;certolizumab pegol;etanercept;glucocorticoids;infliximab;methotrexateKLRD1PGXdexmedetomidineADRA2APGXpantoprazoleCYP2C19CPIC
adalimumab;etanercept;infliximabFCGR3APGXdextroamphetamine;methylphenidateDRD1PGXpantoprazoleCYP2C19DPWG
adalimumab;etanercept;infliximab;Tumor necrosis factor alpha (TNF-alpha) inhibitorsTRAF1PGXdiazepamCYP2C19FDApantoprazoleCYP2C19FDA
adalimumab;infliximabFCGR2APGXdicloxacillinABCB1PGXpantoprazoleABCB1PGX
adefovir dipivoxilSLC22A6PGXdidanosineNT5C2PGXparoxetineCYP2D6CPIC
adefovir dipivoxil;cidofovir;tenofovirSLC22A6PGXdifluorodeoxyuridineCDAPGXparoxetineCYP2D6DPWG
adrenergics, inhalantsPGXdigoxinABCB1PGXparoxetineCYP2D6FDA
agomelatineABCB1PGXDihydropyridine derivativesNOS1APPGXparoxetineCYP1A2PGX
alemtuzumab;chlorambucil;cyclophosphamide;fludarabine;prednisone;rituximab;vincristineCXCL12PGXdiltiazemPLCD3PGXparoxetineHTR1APGX
alendronateVDRPGXdimethyl fumarateGSTP1PGXpazopanibHLA-BFDA
alfentanilOPRM1PGXDipeptidyl peptidase 4 (DPP-4) inhibitorsCDKAL1PGXpazopanibUGT1A1FDA
Alkylating AgentsEGFRPGXdirect acting antiviralsIFNL4PGXpeginterferon alfa-2aIFNL3;IFNL4PGX
Alkylating Agents;cisplatinESR1PGXdisopyramideKCNH2PGXpeginterferon alfa-2a;peginterferon alfa-2bIFNL3;IFNL4PGX
allopurinolHLA-BCPICdisulfiramSLC6A3PGXpeginterferon alfa-2a;peginterferon alfa-2b;ribavirinIFNL3PGX
allopurinolHLA-BFDAdiureticsPDE4DPGXpeginterferon alfa-2a;peginterferon alfa-2b;ribavirinIFNL3;IFNL4PGX
allopurinolABCG2PGXdiuretics;hydrochlorothiazideNEDD4LPGXpeginterferon alfa-2a;peginterferon alfa-2b;ribavirinIFNL4PGX
allopurinolCYCSP5PGXdobutamineADRB1PGXpeginterferon alfa-2a;peginterferon alfa-2b;ribavirin;simeprevirIFNL4PGX
allopurinol;febuxostatAOX1PGXdocetaxelCYP3A4PGXpeginterferon alfa-2a;peginterferon alfa-2b;ribavirin;telaprevirIFNL3PGX
allopurinol;febuxostatUGT1A1;UGT1A10;UGT1A3;UGT1A4;UGT1A5;UGT1A6;UGT1A7;UGT1A8;UGT1A9PGXdocetaxelSLCO1B3PGXpeginterferon alfa-2a;peginterferon alfa-2b;ribavirin;telaprevirIFNL3;IFNL4PGX
alprazolamCYP3A;CYP3A4PGXdocetaxelVEGFAPGXpeginterferon alfa-2a;ribavirinSCARB1PGX
amantadine;Anticholinergics;Dopamine agonists;levodopa;selegilineSLC22A1PGXdocetaxel;doxorubicinAKR1C3PGXpeginterferon alfa-2a;ribavirinVDRPGX
amifampridineNAT2FDAdocetaxel;epirubicinMDM4PGXpeginterferon alfa-2bHLA-DPA1PGX
amifampridine phosphateNAT2FDAdocetaxel;FEC100;gemcitabine;trastuzumab;zoledronatePPCDCPGXpeginterferon alfa-2b;protease inhibitors;ribavirinSLC28A2PGX
amiloride;spironolactoneCYP4A11PGXdocetaxel;gemcitabine;paclitaxel;Platinum compounds;vinorelbineCASP7PGXpeginterferon alfa-2b;ribavirinITPAPGX
aminoglycoside antibacterialsMT-RNR1PGXdocetaxel;thalidomideCHST3PGXpemetrexedGGHPGX
amiodaroneNOS1APPGXdolasetron;granisetronNOS1APPGXpemetrexedMTHFRPGX
amiodarone;Antibiotics;antipsychotics;diuretics;quinidine;sotalolKCNE1PGXdolutegravirUGT1A1FDAperindoprilBDKRB1PGX
amisulprideMC4RPGXdolutegravirABCG2PGXperphenazineCYP2D6FDA
amisulpride;antipsychotics;olanzapine;quetiapine;risperidoneHTR1APGXdonepezilCYP2D6FDAPertussis vaccinesTLR4PGX
amisulpride;aripiprazole;clozapine;lithium;mirtazapine;olanzapine;paliperidone;quetiapine;risperidone;valproic acidSH2B1PGXdonepezilBCHEPGXphenazepamCYP2C19PGX
amitriptylineCYP2C19CPICdonepezilCHATPGXphenobarbitalABCB1PGX
amitriptylineCYP2D6CPICdonepezil;galantamine;rivastigmineCHATPGXphenobarbital;phenytoinMTHFRPGX
amitriptylineCYP2D6DPWGdonepezil;galantamine;rivastigmineCHRNA7PGXphenprocoumonVKORC1PGX
amitriptylineCYP2D6FDAdoxepinCYP2C19CPICphenytoinCYP2C9DPWG
amitriptyline;antidepressants;citalopram;fluvoxamine;paroxetine;sertraline;venlafaxineABCB1PGXdoxepinCYP2C19FDAphenytoinCFHR4PGX
amitriptyline;antidepressants;citalopram;paroxetine;venlafaxineABCB1PGXdoxepinCYP2D6CPICphenytoinSCN1APGX
amitriptyline;citalopram;fluoxetine;paroxetine;sertraline;venlafaxineABCB1PGXdoxepinCYP2D6DPWGphotodynamic therapyF13A1PGX
amitriptyline;citalopram;paroxetine;venlafaxineABCB1PGXdoxepinCYP2D6FDApimozideCYP2D6DPWG
amlodipineCYP3A4PGXdoxorubicinABCC1PGXpimozideCYP2D6FDA
amlodipine;chlorthalidoneNPPAPGXdoxorubicinCBR3PGXpioglitazoneADIPOQPGX
amlodipine;chlorthalidone;lisinoprilACEPGXdoxorubicin;doxorubicinolCBR1PGXpiroxicamCYP2C9CPIC
amlodipine;chlorthalidone;lisinoprilAGTPGXdoxorubicin;idarubicinCYBAPGXpiroxicamCYP2C9FDA
amodiaquineCYP2C8PGXdoxorubicin;methotrexate;prednisolone;vincristineABCB1PGXpitavastatinABCC2PGX
amodiaquine;pyrimethamine;sulfadoxineG6PDPGXdronabinolCYP2C9FDApitrakinraIL4RPGX
amoxapineCYP2D6FDADrug(s)GenePGXplatinumERCC5PGX
amoxicillin;clavulanateHLA-DQB1PGXDrugs For Treatment Of TuberculosisNAT2PGXPlatinum compoundsGSTP1PGX
amphetamineCYP2D6FDADrugs For Treatment Of Tuberculosis;isoniazidABCB1PGXPlatinum compoundsHSPA5PGX
amphetamineDRD2PGXDrugs For Treatment Of Tuberculosis;rifampinRIPOR2PGXPlatinum compoundsXRCC1PGX
amphetamine;cannabinoids;cocaine;opioidsKAT2BPGXDrugs used in alcohol dependenceGATA4PGXPlatinum compounds;radiotherapyPGX
amprenavirSLCO1B1PGXDrugs Used In DiabetesIRS1PGXPlatinum compounds;taxanesABCB1PGX
AnalgesicsKCNJ6PGXDrugs used in nicotine dependence;nicotineCHRNA3PGXpramipexoleDRD3PGX
Analgesics;Antiinflammatory agents, non-steroids;Ergot alkaloids;opioids;sumatriptanCOMTPGXDrugs used in nicotine dependence;nicotine;vareniclineCHRNA5PGXprasugrelCYP2C19PGX
Analgesics;Antiinflammatory agents, non-steroids;Ergot alkaloids;opioids;sumatriptanOPRM1PGXduloxetineNCAM1PGXpravastatinKIF6PGX
anastrozoleCYP19A1PGXduloxetineZNF385DPGXpravastatinSLCO1B1PGX
anastrozole;exemestaneMAP4K4PGXeculizumabC5PGXpravastatin;simvastatinHMGCRPGX
anastrozole;exemestane;letrozoleCYP19A1PGXeculizumabCR1PGXprednisone;tacrolimusABCB1PGX
anastrozole;letrozoleTNFRSF11BPGXefavirenzCYP2B6CPICpregabalinSLC7A5PGX
anastrozole;letrozoleTNFSF11PGXefavirenzCYP2B6DPWGprochlorperazineANKK1;DRD2PGX
angiotensin IIAGTR1PGXefavirenzCYP2B6FDApropafenoneCYP2D6DPWG
anthracyclines and related substancesCBR3PGXefavirenzCYP2B6PGXpropafenoneCYP2D6FDA
anthracyclines and related substancesHAS3PGXefavirenz;lopinavir;Nucleoside and nucleotide reverse transcriptase inhibitors;ritonavirPGXpropofolCYP2B6PGX
anthracyclines and related substances;cyclophosphamide;doxorubicin;epirubicin;fluorouracil;methotrexate;oxaliplatin;Platinum compoundsNOS3PGXefavirenz;nelfinavirABCB1PGXpropofol;remifentanilABCB1PGX
anthracyclines and related substances;taxanesABCB1PGXegfr inhibitorsEGFRPGXpropranololCYP2D6FDA
AntibioticsLGALS3PGXelagolixSLCO1B1FDApropranololADRB2PGX
antidepressantsHTR2APGXeliglustatCYP2D6DPWGprotriptylineCYP2D6FDA
antidepressantsSLC6A4PGXeliglustatCYP2D6FDAquetiapineCOMTPGX
antidepressants;antiepileptics;Beta Blocking Agents;calcium channel blockersACEPGXenalaprilPGXquetiapineMC4RPGX
antidepressants;antipsychotics;benzodiazepine derivatives;opioids;SympathomimeticsOPRM1PGXenalaprilACEPGXquinaprilAGTPGX
antidepressants;benzodiazepine derivatives;mirtazapine;Selective serotonin reuptake inhibitorsGALPGXenalapril;imidapril;lisinoprilBDKRB2PGXrabeprazoleCYP2C19FDA
antidepressants;citalopramCREB1;METTL21APGXendoxifenPGXradiotherapyCDK1PGX
antidepressants;citalopram;clomipramine;lithium;nefazodone;paroxetine;venlafaxineFKBP5PGXenfluraneCACNA1SPGXraloxifeneUGT1A8PGX
antidepressants;citalopram;escitalopram;fluoxetine;paroxetineTPH1PGXentacaponeCOMTPGXraltegravirUGT1A1FDA
antidepressants;citalopram;fluoxetineSERPINE1PGXEnzymesA2MPGXramiprilACEPGX
antidepressants;citalopram;fluvoxamine;paroxetine;sertraline;venlafaxineABCB1PGXephedrine;phenylephrineADRB2PGXranibizumabNRP1PGX
antidepressants;citalopram;paroxetineBDNFPGXepirubicin;fluorouracil;oxaliplatinNQO1PGXrasagilineDRD2PGX
antidepressants;desipramine;fluoxetineBDNFPGXerdafitinibCYP2C9FDAregadenosonAMPD1PGX
antidepressants;fluvoxamine;paroxetine;Selective serotonin reuptake inhibitors;sertralineHTR1APGXerlotinibEGFRPGXremifentanilCOMTPGX
antidepressants;mirtazapine;venlafaxineTPH2PGXerythromycinABCC2PGXremifentanil;sevofluraneABCB1PGX
antidepressants;Selective serotonin reuptake inhibitorsFKBP5PGXescitalopramCYP2C19CPICrepaglinideCYP2C8PGX
antidepressants;Selective serotonin reuptake inhibitors;venlafaxineGRIA3PGXescitalopramCYP2C19DPWGrepaglinideNEUROD1PGX
antiepilepticsABCB1PGXescitalopramCYP2C19FDArhodamine 123ABCB1PGX
antiepileptics;carbamazepineABCB1PGXescitalopramBMP5PGXrifampinNR1I2PGX
antiepileptics;carbamazepine;lamotrigine;oxcarbazepine;phenytoin;topiramateSCN2APGXescitalopramCYP1A2PGXrisperidoneCYP2D6DPWG
antiepileptics;carbamazepine;oxcarbazepineABCC2PGXescitalopram;nortriptylineBDNFPGXrisperidoneCYP2D6FDA
antiepileptics;carbamazepine;phenobarbital;phenytoin;valproic acidSCN2APGXesomeprazoleCYP2C19FDArisperidoneHTR2CPGX
AntihypertensivesATP2B1PGXesomeprazoleSTAT6PGXrisperidoneMC4RPGX
Antihypertensives And Diuretics In CombinationNOS3PGXestradiolPGXritodrineCACNA1CPGX
Antihypertensives;Antihypertensives And Diuretics In Combination;diureticsNOS3PGXetanerceptTNFPGXritonavirAPOC3PGX
Antihypertensives;Beta Blocking AgentsGRK5PGXethambutol;isoniazid;pyrazinamide;rifampinCYP2C9PGXrituximabFCGR3APGX
Antiinflammatory agents, non-steroidsCDKN2B-AS1PGXethanolADH1BPGXrivastigmineBCHEPGX
Antiinflammatory agents, non-steroidsPTGS1PGXethanolOPRM1PGXrocuroniumABCB1PGX
Antiinflammatory agents, non-steroids;aspirinPGXetoposideABCB1PGXrofecoxibPTGS2PGX
Antiinflammatory agents, non-steroids;celecoxib;diclofenacCYP2C9PGXetoposideSLIT1PGXrosiglitazonePAX4PGX
antineoplastic agentsSERPINA3PGXetravirineCYP2C19PGXrosuvastatinSLCO1B1FDA
antineoplastic agentsTP53PGXeverolimusPIK3R1PGXrosuvastatinABCG2PGX
antipsychoticsBDNFPGXeverolimusRPTORPGXrosuvastatinSLCO1B1PGX
antipsychoticsGRM3PGXexemestaneCYP19A1PGXsalbutamolADRB2PGX
antipsychotics;aripiprazole;bromperidol;chlorpromazine;clozapine;nemonapride;olanzapine;risperidoneDRD2PGXexemestane;letrozoleCYP19A1PGXsalbutamol;selective beta-2-adrenoreceptor agonistsCRHR2PGX
antipsychotics;aripiprazole;risperidoneANKK1PGXexemestane;letrozoleESR1PGXsalmeterolADRB2PGX
antipsychotics;chlorpromazine;fluphenazine;thioridazine;trifluoperazineCYP1A2PGXFarglitazar;glibenclamideSCNN1BPGXsalvianolic acid bNOS3PGX
antipsychotics;clozapine;olanzapineDRD2PGXfenofibrateAPOA5PGXselective beta-2-adrenoreceptor agonistsARG1PGX
antipsychotics;olanzapine;perphenazine;quetiapine;ziprasidoneRGS4PGXfenofibrateCRPPGXSelective serotonin reuptake inhibitorsHTR7PGX
antipsychotics;risperidoneLEPPGXfentanylABCB1PGXsertralineCYP2C19CPIC
antithymocyte globulinFCGR3APGXfentanylOPRM1PGXsertralineCYP2C19DPWG
Antithyroid PreparationsHLA-BPGXfentanyl;morphine;opioids;oxycodoneRHBDF2PGXsertralineGNB3;P3H3PGX
Antivirals for treatment of HIV infections, combinations;Drugs For Treatment Of TuberculosisABCB1PGXfentanyl;propofol;remifentanil;sevofluraneADRB2PGXsevofluraneCACNA1SPGX
Antivirals for treatment of HIV infections, combinations;ritonavirAPOEPGXfesoterodineCYP2D6FDAsibutramineGNB3PGX
apixabanABCG2PGXfexofenadineABCB1PGXsildenafilGNB3PGX
aripiprazoleCYP2D6DPWGfexofenadineSLCO2B1PGXsilibininABCB1PGX
aripiprazoleCYP2D6FDAflecainideCYP2D6DPWGsimvastatinSLCO1B1FDA
aripiprazoleDRD2PGXflecainideSCN4APGXsimvastatinHMGCRPGX
aripiprazole lauroxilCYP2D6FDAflecainide;mexiletineSCN4APGXsimvastatinSLCO1B1PGX
aripiprazole;clozapine;haloperidol;olanzapine;quetiapine;risperidoneFAAHPGXflecanideCYP2D6DPWGsimvastatin acidSLCO1B1PGX
aripiprazole;risperidoneDRD2PGXflibanserinCYP2C19FDAsiponimodCYP2C9FDA
artesunate;chlorproguanil;dapsoneG6PDPGXflucloxacillinNR1I2PGXsirolimusABCB1PGX
artesunate;primaquine;pyrimethamine;sulfadoxineG6PD;IKBKGPGXfluindioneVKORC1PGXsirolimus;temsirolimusNR1I2PGX
asparaginaseNFATC2PGXflunisolideTBXTPGXsitagliptin;vildagliptinGLP1RPGX
asparaginase;cyclophosphamide;cytarabine;daunorubicin;dexamethasone;doxorubicin;leucovorin;mercaptopurine;methotrexate;pegaspargase;prednisone;thioguanine;vincristineGATA3PGXfluorouracilDPYDCPICSN-38UGT1A9PGX
asparaginase;cyclophosphamide;daunorubicin;prednisolone;vincristinePNPLA3PGXfluorouracilDPYDDPWGsofosbuvirIFNL3;IFNL4PGX
asparaginase;dexamethasone;methotrexatePYGLPGXfluorouracilDPYDFDAsofosbuvir;velpatasvir;voxilaprevirIFNL3;IFNL4PGX
aspirinPPARGPGXfluorouracilDPYDPGXsomatropin recombinantCOL1A1PGX
aspirin;Beta Blocking Agents;clopidogrel;hmg coa reductase inhibitorsNOS3PGXfluorouracil;FOLFIRI;FOLFOXTYMSPGXsorafenibKDRPGX
aspirin;clopidogrelITGA2PGXfluorouracil;FOLFOXTYMSPGXspironolactoneACEPGX
aspirin;clopidogrel;prasugrelPEAR1PGXfluorouracil;irinotecan;leucovorinABCG1PGXstavudineSAMHD1PGX
aspirin;prasugrelNTRK1;PEAR1PGXfluorouracil;irinotecan;leucovorinABCG2PGXsuccinylcholineCACNA1SPGX
atalurenCFTRPGXfluorouracil;leucovorin;oxaliplatinMTHFRPGXsuccinylcholineBCHEFDA
atazanavirUGT1A1CPICfluorouracil;oxaliplatinPARD3BPGXsuccinylcholine;volatile anestheticsRYR1PGX
atazanavirUGT1A2CPICfluorouracil;Platinum compounds;radiotherapyTMEM167A;XRCC4PGXsufentanilCOMTPGX
atazanavirUGT1A3CPICfluorouracil;Platinum compounds;radiotherapyXRCC4PGXsufentanilOPRM1PGX
atazanavirNR1I2PGXfluoxetineSLC6A4PGXsulfamethoxazoleGCLCPGX
atazanavirUGT1A1PGXfluoxetine;sertralineACEPGXsulfasalazineABCG2PGX
atazanavir;lopinavir;ritonavir;tenofovirABCC2PGXflurbiprofenCYP2C9FDAsulfinpyrazoneUGT1A9PGX
atazanavir;ritonavirUGT1A7PGXflurbiprofenCYP2C9PGXsulfonamides, urea derivativesTCF7L2PGX
atenololDPYSPGXfluticasone propionate;montelukastCA10PGXsulindacFMO3PGX
atenololGNB3PGXfluvastatinACEPGXsumatriptanGNB3PGX
atenolol;bisoprololPGXfluvastatinCETPPGXsunitinibABCB1PGX
atenolol;hydrochlorothiazideALDH1A2PGXfluvastatinSLCO1B1PGXsunitinibFLT3PGX
atenolol;hydrochlorothiazide;metoprololSLC25A31PGXfluvastatin;simvastatinLIPCPGXtacrolimusCYP3A5CPIC
atenolol;irbesartanEDN1PGXfluvoxamineCYP2B6CPICtacrolimusCYP3A5FDA
atenolol;metoprololADRB2PGXfluvoxamineCOMTPGXtacrolimusCYP3A4PGX
atenolol;verapamilCACNA1CPGXfluvoxamineFGF2PGXtalinololABCB1PGX
atomoxetineCYP2D6CPICfluvoxamineHTR2APGXtamoxifenCYP2D6CPIC
atomoxetineCYP2D6DPWGfluvoxamineCYP2D6FDAtamoxifenCYP2D6DPWG
atomoxetineCYP2D6FDAfluvoxamine;milnacipran;paroxetineHTR1APGXtamoxifenCYP2D6FDA
atomoxetineSLC6A2PGXfluvoxamine;paroxetineHTR2APGXtamoxifenCYP19A1PGX
atorvastatinAPOEPGXfolic acidMTHFRPGXtamoxifenUGT1A4PGX
atorvastatinSLCO1B1PGXfolic acid;methotrexateTLR4PGXtamsulosinCYP2D6FDA
atorvastatin;BisphosphonatesFDPSPGXfolic acid;vitamin b-complex, plainMTHFRPGXtaxanesPGX
atorvastatin;fluvastatin;hmg coa reductase inhibitors;lovastatin;pravastatin;simvastatinHMGCRPGXfolic acid;vitamin b-complex, plainMTRRPGXtegafurDPYDDPWG
atorvastatin;hmg coa reductase inhibitors;pravastatin;simvastatinHTR7PGXfollitropin beta;thyrotropin alfa;urofollitropinFSHRPGXtegafurDPYDPGX
atorvastatin;hmg coa reductase inhibitors;rosuvastatinCOQ2PGXforskolinABCB1PGXtelaprevirCYP24A1PGX
atorvastatin;lovastatin;simvastatinAPOA5PGXfurosemideABCC4PGXtelmisartanGNB3PGX
atorvastatin;pravastatin;simvastatinABCA1PGXfurosemide;spironolactoneADD1PGXtelmisartanSLCO1B3PGX
atorvastatin;quinaprilACEPGXgabapentinSLC7A5PGXtemozolomideABCB1PGX
atorvastatin;rifampinSLCO1B1PGXgalantamineCYP2D6FDAtenofovirABCC4PGX
atorvastatin;simvastatinPON1PGXgalantamineCHATPGXtenofovir disoproxil fumarateCYP27B1PGX
atorvastatin;simvastatinRYR2PGXgefitinibCYP2D6FDAtenoxicamCYP2C9CPIC
avatrombopagCYP2C9FDAgefitinibABCB1PGXterbutalineADRB2PGX
axitinib;sorafenibHIF1APGXgefitinibEGFRPGXtetrabenazineCYP2D6FDA
azathioprineNUDT15CPICgeldanamycinEGFRPGXthalidomideERCC1PGX
azathioprineNUDT15DPWGgemcitabineNT5C2PGXThiazides, plainGNB3PGX
azathioprineTPMTCPICgemcitabineRRM1PGXthiazolidinedionesAQP2PGX
azathioprineTPMTDPWGgemcitabine;paclitaxelCDAPGXthioguanineNUDT15CPIC
azathioprineTPMTFDAgemcitabine;paclitaxelSLC29A1PGXthioguanineTPMTCPIC
azathioprineFTOPGXgemcitabine;Platinum compoundsCASP7PGXthioguanineTPMTDPWG
azathioprineNUDT15PGXgemcitabine;Platinum compoundsRRM1PGXthioguanineTPMTFDA
azathioprine;mercaptopurinePGXgemtuzumab ozogamicinCD33PGXthioridazineCYP2D6FDA
azathioprine;mercaptopurine;thioguanineNUDT15PGXglatiramer acetatePGXthioridazineCYP2D6PGX
azathioprine;purine analoguesITPAPGXglibenclamideNOS1APPGXthiotepaGSTP1PGX
belinostatUGT1A1FDAgliclazideKCNJ11PGXtianeptineOPRM1PGX
benazeprilMTHFRPGXglimepirideNOS1APPGXticagrelorPEAR1PGX
benazepril;imidaprilAGTPGXglipizideNOS1APPGXtimololPGX
benazepril;perindoprilACEPGXglucocorticoidsHSD3B1PGXtiotropiumADRB2PGX
Beta Blocking AgentsADRB1PGXgranisetronABCB1PGXtipifarnibABCB1PGX
Beta Blocking AgentsGRK5PGXgranisetron;palonosetronERCC1PGXtipiracil hydrochloride;trifluridineSLC29A1PGX
Beta blocking agents, selectiveBST1PGXhaloperidolCYP2D6DPWGtocilizumabIL6RPGX
bevacizumabARMS2PGXhaloperidolMC4RPGXtolbutamideCYP2C9PGX
bevacizumabCFHPGXhaloperidolSLC6A5PGXtolterodineCYP2D6FDA
bevacizumabCXCR4PGXhalothaneCACNA1SPGXtopiramateGRIK1PGX
bevacizumabEDN1PGXhdl cholesterol;letrozole;triglyceridesCYP19A1PGXtopotecanABCG2PGX
bevacizumab;capecitabine;cetuximab;oxaliplatinMGAT4APGXHepatitis vaccinesIL4RPGXtramadolCYP2D6DPWG
bevacizumab;capecitabine;fluorouracil;irinotecan;leucovorin;oxaliplatinVEGFAPGXheroinOPRM1PGXtramadolCYP2D6FDA
bevacizumab;capecitabine;oxaliplatinMGAT4APGXheroinSOD2PGXtramadolOPRM1PGX
bevacizumab;carboplatin;cisplatin;cyanocobalamin;folic acid;pemetrexedMTHFRPGXheroin;methamphetamineBDNFPGXtrandolapril;verapamilPTPRDPGX
bevacizumab;fluorouracil;irinotecan;leucovorinSHMT1PGXheroin;opioidsOPRM1PGXtrastuzumabERBB2PGX
bevacizumab;pegaptanib;ranibizumabVEGFAPGXhighly active antiretroviral therapy (haart)OPRM1PGXtrastuzumabFCGR2APGX
bevacizumab;pemetrexedGGHPGXhmg coa reductase inhibitorsLPAPGXtriamcinoloneHCG22PGX
bevacizumab;ranibizumabVEGFAPGXhmg coa reductase inhibitorsSLCO1B1PGXtrimipramineCYP2C19CPIC
bilirubinUGT1APGXhmg coa reductase inhibitors;letrozoleCYP19A1PGXtrimipramineCYP2D6CPIC
bisantreneABCB1PGXhmg coa reductase inhibitors;simvastatinGATMPGXtrimipramineCYP2D6FDA
bisoprololACY3PGXhormonal contraceptives for systemic useF5PGXtroglitazonePGX
BisphosphonatesABCC4PGXHydralazine-isosorbide dinitrateGNB3PGXtropisetronCYP2D6CPIC
BisphosphonatesFDPSPGXhydrochlorothiazideADD1PGXTumor necrosis factor alpha (TNF-alpha) inhibitorsIL23RPGX
Bisphosphonates;clodronate;etidronic acid;risedronate;tiludronateIL1BPGXhydrochlorothiazideKCNJ1PGXTumor necrosis factor alpha (TNF-alpha) inhibitorsTNFPGX
Bisphosphonates;pamidronate;zoledronateCYP2C8PGXhydrocodoneOPRM1PGXTumor necrosis factor alpha (TNF-alpha) inhibitors;ustekinumabIL1BPGX
bleomycin;cisplatin;etoposideBLMHPGXhydroxyureaMAP3K5PGXustekinumabTIRAPPGX
bleomycin;cisplatin;etoposideGSTP1PGXibuprofenPTGS2PGXvalbenazineCYP2D6FDA
bleomycin;cyclophosphamide;doxorubicin;prednisone;rituximab;vincristine;vindesineABCB1PGXidarubicinNCF4PGXvalganciclovirABCB1PGX
boceprevir;peginterferon alfa-2a;peginterferon alfa-2b;ribavirinIFNL3;IFNL4PGXidarubicinRAC2PGXvalproic acidPOLGPGX
bortezomib;dexamethasone;melphalan;prednisoneCTLA4PGXiloperidoneCYP2D6FDAvalproic acidUGT1A6PGX
botulinum toxin type aTRPV1PGXiloperidoneCYP2D6PGXvancomycinPGX
brexpiprazoleCYP2D6DPWGimatinibCYP2B6PGXvardenafilCYP3A5PGX
brexpiprazoleCYP2D6FDAimatinibEGFRPGXvareniclineCHRNA4PGX
brivaracetamCYP2C19FDAimatinibSLC22A1PGXvenlafaxineCYP2D6DPWG
bucindololADRB1PGXimatinibSLC22A4PGXvenlafaxineCYP2D6FDA
budesonidePGXimipramineCYP2C19CPICvenlafaxineHTR2APGX
budesonide;flunisolide;fluticasone propionate;glucocorticoids;nedocromil;triamcinoloneGLCCI1PGXimipramineCYP2C19DPWGverapamilKCNIP1;KCNMB1PGX
bufuralol;dextromethorphanCYP2D6PGXimipramineCYP2D6CPICvincristineABCB1PGX
bumetanide;furosemide;torasemideSLC12A3PGXimipramineCYP2D6DPWGvincristineCEP72PGX
buprenorphineCOMTPGXimipramineCYP2D6FDAvitamin eCYP4F2PGX
buprenorphineOPRD1PGXimiquimodTLR7PGXVitamin KCYP4F2PGX
buprenorphine;fentanyl;meperidine;morphine;opioids;pentazocinePGXindinavirCYP3A4PGXvoriconazoleCYP2C19CPIC
buprenorphine;fentanyl;tramadolCOMTPGXindinavirUGT1A1PGXvoriconazoleCYP2C19DPWG
bupropionGALR1PGXinfliximabTNFPGXvoriconazoleCYP2C19FDA
bupropion;Drugs used in nicotine dependence;nicotine;vareniclineCHRNA5PGXinfliximab;Tumor necrosis factor alpha (TNF-alpha) inhibitorsTNFRSF1BPGXvoriconazoleCYP3A4PGX
bupropion;nicotineDRD1PGXinsulin recombinant;zinc acetateSLC30A8PGXvortioxetineCYP2D6FDA
bupropion;nicotine;vareniclineCHRNA5PGXinterferon alfa-2a, recombinant;interferon alfa-2b, recombinant;ribavirinFTOPGXwarfarinCYP2C9DPWG
busulfanCYP2C9PGXinterferon alfa-2a, recombinant;peginterferon alfa-2bIDO1PGXwarfarinCYP2C9FDA
busulfan;cyclophosphamideCTHPGXinterferon alfa-2b, recombinant;ribavirinITPAPGXwarfarinCYP4F2FDA
butorphanolCOMTPGXinterferon beta-1aRORAPGXwarfarinVKORC1FDA
caffeineADORA2APGXinterferon beta-1a;interferon beta-1bHLA-DQA1PGXwarfarinPGX
caffeineCYP1A2PGXinterferon beta-1a;interferon beta-1bIRF6PGXwarfarinCYP4F2PGX
calceinABCB1PGXinterferonsIFNL3;IFNL4PGXwarfarinVKORC1PGX
calcein;lopinavirABCC2PGXinterferonsSTAT3PGXXK469AOX1PGX
calciumVDRPGXinterferons;peginterferon alfa-2a;peginterferon alfa-2b;ribavirinIFNL3PGXzileutonPRORPPGX
calcium channel blockersCACNA1CPGXinterferons;ribavirinIL18PGXzoledronateFDPSPGX
calcium channel blockers;nitrendipineKCNH2PGXirbesartanCYP2C9PGXzuclopenthixolCYP2D6DPWG
candesartanAGTR1PGXirinotecanUGT1A1DPWG
cangrelorP2RY12PGXirinotecanUGT1A1FDA
cannabinoidsFAAHPGXirinotecanUGT1A1PGX
cannabinoids;cocaine;ethanol;nicotine;opioidsOPRM1PGXirinotecan;raltitrexedTYMSPGX
capecitabineDPYDCPICisofluraneCACNA1SPGX
capecitabineDPYDFDAisoniazidBACH1PGX
capecitabineDPYDPGXisoniazid;phenytoinNAT2PGX
capecitabineTYMSPGXisoniazid;pyrazinamide;rifampinNAT2PGX
capecitabine;docetaxelCYP1A1PGXisoniazid;rifampinGSTP1PGX
capecitabine;epirubicin;platinumGSTP1PGXisoproterenolADRB2PGX
capecitabine;fluorouracilHLA-GPGXivacaftorCFTRPGX
capecitabine;fluorouracil;leucovorin;oxaliplatinMTHFRPGXivacaftor-lumacaftorCFTRPGX
capecitabine;fluorouracil;tegafurTYMSPGXivacaftor-tezacaftorCFTRPGX
capecitabine;oxaliplatinPTGS2PGXketorolacPGX
capecitabine;radiotherapyAREGPGXl-methylfolate;Vitamin B-complex, Incl. CombinationsMTHFRPGX
captoprilACEPGXl-phenylalaninePAHPGX
carbamazepineHLA-ACPICl-tryptophanSLC22A2PGX
carbamazepineHLA-AFDAlamivudine;lopinavir;ritonavir;zidovudineABCB1PGX
carbamazepineHLA-BCPIClamotrigineUGT1A4PGX
carbamazepineHLA-BFDAlansoprazoleCYP2C19CPIC
carbamazepineCYP3A5PGXlansoprazoleCYP2C19DPWG
carbamazepineSCN1APGXlansoprazole;omeprazole;rabeprazoleIL1BPGX
carbamazepine;clobazam;ethosuximide;lamotrigine;levetiracetam;oxcarbazepine;valproic acidSCN1APGXlansoprazole;tacrolimusABCB1PGX
carbamazepine;oxcarbazepineSCN1APGXlapatinibHLA-DQA1FDA
carbamazepine;phenobarbital;phenytoin;valproic acidCYP1A1PGXlapatinibHLA-DRB1FDA
carbamazepine;phenytoin;valproic acidGABRA1PGXlatanoprostABCC4PGX
carbocisteinePAHPGXledipasvir;sofosbuvirIFNL3;IFNL4PGX
carboplatin;cisplatinEIF3APGXleflunomideESR1PGX
carboplatin;cisplatin;docetaxel;erlotinib;gefitinib;paclitaxelMAP3K1PGXlenalidomide;thalidomideCTNNB1PGX
carboplatin;cisplatin;docetaxel;gemcitabine;paclitaxelRAF1PGXletermovirSLCO1B1PGX
carboplatin;cisplatin;docetaxel;paclitaxelPGXletrozoleESR1PGX
carboplatin;cisplatin;fluorouracilSLC19A1PGXlevodopaHOMER1PGX
carboplatin;cisplatin;gemcitabineGPX5PGXlevodopaSLC6A3PGX
carboplatin;cisplatin;oxaliplatin;platinum;Platinum compoundsERCC1PGXliraglutideGLP1RPGX
carboplatin;cyclophosphamide;thiotepaALDH1A1PGXlisinoprilACEPGX
carboplatin;docetaxel;paclitaxelBCL2PGXlithiumASIC2PGX
carboplatin;docetaxel;trastuzumabERBB3PGXlithium;valproic acidPGX
carboplatin;gemcitabineCYP2C8PGXlofexidineCYP2D6FDA
carboplatin;lonafarnib;paclitaxelFNTBPGXlopinavirSLCO1B1PGX
carboplatin;paclitaxelMAD1L1PGXlorazepamUGT2B15PGX
carboplatin;paclitaxelSLCO1B3PGXlosartanSTK39PGX
carboplatin;taxanesGSRPGXlovastatinLDLRPGX
carisoprodolCYP2C19FDAlovastatin acidSLCO1B1PGX
carvedilolCYP2D6FDAlumacaftorCFTRPGX
carvedilolADRB2PGXlumefantrineCYP3A4PGX
catecholaminesADRB1PGXlurasidoneHTR1APGX
catecholamines;metforminSLC22A3PGXMeasles vaccinesTLR3PGX
cavosonstatCFTRPGXmeclizineCYP2D6FDA
cefotaximeSLC22A8PGXmeloxicamCYP2C9CPIC
ceftriaxoneABCG2PGXmelphalanSLC7A5PGX
celecoxibCYP2C9FDAmemantineNR1I2PGX
celecoxibALOX12PGXmephenytoinCYP2C19PGX
cerivastatinSLCO1B1PGXmercaptopurineNUDT15CPIC
cetuximabEGFPGXmercaptopurineTPMTCPIC
cetuximab;irinotecan;leucovorin;tegafurEGFRPGXmercaptopurineTPMTFDA
cetuximab;irinotecan;panitumumabAREGPGXmercaptopurineFTOPGX
cetuximab;panitumumabKRASPGXmercaptopurineNUDT15PGX
cevimelineCYP2D6FDAmercaptopurine;methotrexateITPAPGX
chlorothiazide;hydrochlorothiazidePGXmetforminSLC22A1PGX
chlorpromazine;clozapine;haloperidol;olanzapine;quetiapine;risperidone;trifluoperazineEPM2APGXmetforminSLC47A1PGX
chlorthalidone;lisinoprilMMP3PGXmetformin;sulfonamides, urea derivativesKCNJ11PGX
cisplatinACYP2PGXmethacholineADRB2PGX
cisplatinERCC1PGXmethadoneABCB1PGX
cisplatin;cyclophosphamideCYP2E1PGXmethadoneCYP3A4PGX
cisplatin;cyclophosphamideGSTM3PGXmethamphetamineFAAHPGX
cisplatin;cyclophosphamide;doxorubicin;methotrexate;vincristineABCC3PGXmethotrexateATICPGX
cisplatin;fluorouracilGALNT14PGXmethotrexateMTHFRPGX
cisplatin;fluorouracil;mitoxantroneGALNT14PGXmethotrexateSLC19A1PGX
cisplatin;fluorouracil;oxaliplatinVEGFAPGXmethoxyfluraneCACNA1SPGX
cisplatin;fluorouracil;radiotherapyMUTYHPGXmethylphenidateCES1PGX
cisplatin;gemcitabineRRM1PGXmethylphenidateDRD2PGX
cisplatin;irinotecanUBE2IPGXmethylphenidateSLC6A2PGX
cisplatin;oxaliplatin;Platinum compoundsGSTP1PGXmethylprednisolone;prednisoloneABCB1PGX
cisplatin;oxaliplatin;platinum;Platinum compoundsERCC2;KLC3PGXmetoclopramideCYP2D6FDA
cisplatin;pemetrexedABCC2PGXmetoprololCYP2D6DPWG
citalopramCYP2C19CPICmetoprololCYP2D6FDA
citalopramCYP2C19DPWGmetoprololADRB1PGX
citalopramCYP2C19FDAmidazolamPORPGX
citalopramHTR2APGXmigalastatGLAPGX
citalopram;escitalopramPGXmilnacipranHTR1APGX
citalopram;fluoxetineGSK3BPGXmirabegronCYP2D6FDA
citalopram;fluoxetine;paroxetine;sertralineREEP5PGXmirtazapineFKBP5PGX
cladribine;cytarabineRRM1PGXmirtazapine;venlafaxineTPH2PGX
cladribine;fluorouracil;gemcitabineNT5C1APGXmitotaneCYP2B6PGX
clobazamCYP2C19FDAmivacuriumBCHEFDA
clodronateVDRPGXmodafinilABCB1PGX
clomipramineCYP2C19CPICmontelukastLTA4HPGX
clomipramineCYP2C19DPWGmorphineKCNJ6PGX
clomipramineCYP2D6CPICmorphineOPRM1PGX
clomipramineCYP2D6DPWGmorphine;nortriptylineABCB1PGX
clomipramineCYP2D6FDAmuraglitazarEDN1PGX
clomipramine;liothyronine;lithium;nefazodone;venlafaxineHTR1BPGXmycophenolate mofetilSLCO1B3PGX
clomipramine;lithium;nefazodone;paroxetine;venlafaxineABCB1PGXmycophenolic acidSLCO1B3PGX
clomipramine;nefazodone;paroxetine;venlafaxineFKBP5PGXnaloxoneOPRM1PGX
clonidineGNB3PGXnaltrexoneDBHPGX
clopidogrelCYP2C19CPICnaproxenCYP2C9PGX
clopidogrelCYP2C19DPWGnateglinideSLCO1B1PGX
clopidogrelCYP2C19FDAnebivololCYP2D6FDA
clopidogrelCES1PGXnelfinavirCYP2C19PGX
clozapineCYP2D6FDAnemonaprideANKK1PGX
clozapineABCB1PGXnevirapineCYP2B6PGX
clozapineHTR2CPGXnicotineCHRNA3PGX
clozapineNTRK2PGXnicotineCHRNA5PGX
clozapine;olanzapineMC4RPGXnicotine;Opium alkaloids and derivativesCHRNA5PGX
clozapine;olanzapine;risperidoneDRD2PGXnifedipineSLC14A2PGX
cocaineDRD2PGXnilotinibUGT1A1FDA
cocaineOPRM1PGXnimodipineCACNA1CPGX
cocaine;ethanol;nicotineOPRM1PGXnitrendipineAGTR1PGX
cocaine;heroinOPRM1PGXnitroprussideACEPGX
codeineCYP2D6CPICnitrous oxideMTHFRPGX
codeineCYP2D6DPWGnortriptylineCYP2D6CPIC
codeineCYP2D6FDAnortriptylineCYP2D6DPWG
codeineOPRM1PGXnortriptylineCYP2D6FDA
conjugated estrogensSULT1A1PGXnortriptylineABCB1PGX
conjugated estrogens;medroxyprogesteroneVDRPGXnortriptylineGNB3PGX
corticosteroidsBCL2L11PGX
corticosteroidsCRHR1PGX
corticosteroids;selective beta-2-adrenoreceptor agonistsADRB2PGX
cotinineCHRNA5PGX
cotinine glucuronideUGT1A9PGX
cotinine;nicotineOPRM1PGX
coumarinCYP2A6PGX
creatineMOBPPGX
curcumin;ivacaftorCFTRPGX
cyclophosphamideABCC4PGX
cyclophosphamideCYP2C19PGX
cyclophosphamideSOD2PGX
cyclophosphamide;cytarabine;daunorubicin;mercaptopurine;methotrexate;prednisone;vincristineDROSHAPGX
cyclophosphamide;dexamethasone;lenalidomide;thalidomideCTNNB1PGX
cyclophosphamide;docetaxelVEGFAPGX
cyclophosphamide;docetaxel;doxorubicin;epirubicin;fluorouracilSLCO1B1PGX
cyclophosphamide;doxorubicinCYP2C19PGX
cyclophosphamide;doxorubicin;fluorouracilATMPGX
cyclophosphamide;doxorubicin;fluorouracilSLC22A16PGX
cyclophosphamide;doxorubicin;fluorouracil;methotrexateNOS3PGX
cyclophosphamide;doxorubicin;prednisone;rituximab;vincristineGSTA1PGX
cyclophosphamide;epirubicinGSTP1PGX
cyclophosphamide;epirubicin;fluorouracilNQO1PGX
cyclophosphamide;epirubicin;fluorouracilPIGBPGX
cyclophosphamide;epirubicin;paclitaxelCYP1B1PGX
cyclophosphamide;fluorouracil;methotrexateFGFR4PGX
cyclosporineCYP3A4PGX
cyclosporineCYP3A5PGX
cyclosporine;dicloxacillinABCB1PGX
cyclosporine;mycophenolate mofetilIL10PGX
cyclosporine;mycophenolate mofetil;sirolimus;tacrolimusUGT1A8PGX
cyclosporine;mycophenolic acidABCC2PGX
cyclosporine;sirolimus;tacrolimusTCF7L2PGX
cyclosporine;tacrolimusCRTC2PGX
cysteamineCFTRPGX
cytarabineCDAPGX
cytarabine;daunorubicin;dexrazoxane;idarubicinABCB1PGX
cytarabine;daunorubicin;etoposide;mitoxantroneSLCO1B1PGX
cytarabine;fludarabine;gemtuzumab ozogamicin;idarubicinCYP2E1PGX
cytarabine;idarubicinNT5C3APGX

Summary

There you have it! With information, free is not always good and useful. A lot of users come to Xcode after having tried Promethease for $5. If you just want to satisfy your curiosity and not really looking for anything specific, then Promethease may be the way to go. But, if you want specific, organized, and actionable insights from your genetic data about your health and wellbeing, then you certainly must try the Xcode Health reports!

About Xcode Life

Updated on January 15th, 2022

GEDmatch is primarily a free website and a powerful genealogy tool that lets users upload their DNA raw data files to find related individuals. It offers a bunch of free tools as well as some paid tools. Read on to know how to get started with GEDmatch for in-depth research about your family history!

What is GEDmatch ?

GEDmatch is a free genealogy website where users can upload their DNA raw data files to track down family members and learn more about their family history.

More reading: What is a DNA raw data file?

Who owns GEDMatch?

Cofounded by Curtis Rogers and John Olson in 2010, it is now owned by Verogen and is based in San Diego, CA. With a global genealogical database and 45+ genetic tools, GEDmatch focuses on genealogy research to provide accessible and effective data to its consumers.

What are the different services offered by GEDMatch?

GEDmatch allows you to compare your DNA raw data using a variety of easy-to-use applications, most of which are free. The services include 45+ genetic tools which help understand and explore your DNA and ancestry.

Is GEDMatch free?

The following are the free tools offered by GEDMatch:

One-to-Many DNA Comparison:

The One-to-Many DNA Comparison tool can be a great place to start. This tool provides a list of people that you share chromosome segments with, along with their email IDs for quick contact. You can also sort and filter your matches.

GEDMatch One to Many tool

"Total cM" (centimorgans) refers to the total length of all substantial DNA segments you share with a DNA match. The larger the number of centimorgans you share with another user, the more closely you are related.

"Overlap" is the total number of SNPs or single nucleotide polymorphisms that you share with your match.

One-to-One Autosomal DNA Comparison:

A one-to-one autosomal DNA comparison enables you to make detailed comparisons of two DNA profiles. The results include a list of shared chromosomes and their locations on the genome. You can view your results in tabular or graphical format, or both.

GEDMatch One to One tool

 How to use the GEDMatch Admixture tool?

This tool allows you to see the percentage of each ethnicity in your DNA, displayed as a simple pie chart. There are also different calculators which provide specialized results for specific ethnicities.

There are 7 projects to choose from in the Admixture (Heritage) tool.

  1. MDLP: Global calculator
  2. Eurogenes: European background
  3. Dodecad: Eurasian background
  4. Harappa world: South Asian ancestry
  5. Ethiohelix: African ancestry project
  6. puntDNAL - Ancient DNA
  7. GedrosiaDNA - Eurasian background

3D Chromosome Browser

With this tool, you can examine segment matches between several individuals at the same time (up to 10). You can quickly identify shared common segments, which may indicate a single common ancestor for multiple people. The graphics used to display the results may not work in certain browsers.

What are the different premier tier tools in GEDMatch?

Segment Search: With this tool, you can search your top matches for overlapping segments. This can help you identify matches that share the most recent common ancestors.

Q-Matching Enhanced One-to-One: This tool is similar to the one-to-one comparison tool and compares your DNA with the DNA of a match. Additionally, it examines the quality of the shared segments.

Phasing Tool: It attempts to separate your paternal and maternal autosomal DNA.

Cluster Tool: This is a sorting feature that groups your matches into clusters based on the degree of similarity, indicating descent from a recent common ancestor."

These Tier 1 tools enable complex genealogy research and help investigate your DNA at a much more advanced level.

How to use GEDMatch?

  1. Sign-up and create a new user account
  2. Once that is done, you will receive an email containing a 6-digit code that you need to key in to complete user registration.
  3. Once the registration is complete, you can log in to your account.
  4. The display page will provide a link for new users providing information on how to use GEDmatch.

The page also displays the following information for signed-in users:

How to upload your raw data from 23andMe, AncestryDNA or Family Tree DNA to GEDMatch?

  1. Click on "Upload" from the header section of the home page.
  2. Fill in the form with as much information as you have.
  3. Click on the "Choose File" button at the bottom of the page.
  4. Choose the correct file from your device - Your data must be Build 37 (GRCh37/hg19)
  5. Click the upload button and wait until you see the word "Finish."

How much does GEDMatch analysis cost?

GEDmatch is predominantly free, with an option to pay for access to more advanced tools.

Three basic genealogy analysis tools (one-to-one, one-to-many, and admixture), along with 45+ other genealogic analysis tools, are available for free on your account.

Apart from these, you can gain access to more complex tools from the Tier 1 subscription priced at $10/month. The Tier 1 plan offers a choice between auto-renewal and an on-demand payment option.

Is it safe to upload your DNA raw data to GEDMatch?

GEDmatch collects your name, an optional alias, and email address for your registration. Once registered, other personal information such as your sex, genetic information, genealogy data, and payment information can be provided with consent. 

GEDmatch automatically collects certain information regarding visitors to their site, solely for internal purposes, such as site improvement. This includes your IP address, browsing actions, information about your equipment, and usage patterns. 

The site may use third-party tools to help understand statistical data about its visitors. GEDmatch does not reveal any personal information to these tools. 

When you upload your DNA to GEDmatch, you can opt for one of the four privacy options:

Private: DNA data is not available to other people.

Public + opt-in: DNA data is available for one-to-many searches, including law enforcement searches.

Public + opt-out: DNA data is available for comparison to any raw data in the GEDmatch database, except law enforcement searches.

Research: DNA data is available for one-to-one comparison with public or research DNA. It does not allow one-to-many searches.

GEDmatch confirmed a breach in data privacy in July 2020, after genetic information was made available to the police. For further information, you can read GEDmatch's Privacy Policy.

GEDMatch Reviews

GEDmatch is a standard tool that is recommended among various genealogy groups on Facebook. It has also proved to be useful for law enforcement investigations to solve crimes. GEDmatch helped with the arrest of the Golden State Killer, responsible for more than 50 rapes and at least 13 murders in California in the 1970s and 1980s. Ever since this case was solved, GEDmatch has transformed into a popular crime-solving tool.

The FBI and the police in California worked with a professional genealogist, Barbara Rae, to match DNA samples from the crime scene to GEDmatch profiles of the killer's third and fourth cousins.

Since then, GEDmatch has helped solve around 70 violent crimes. However, the site's new prominence as a crime-solving tool has divided genealogists concerned about this practice invading user privacy and those keen to work with law enforcement.

Summary - The Pros and Cons

Pros

Cons

About Genetic Lifehacks

Genetic Lifehacks is a website where users can learn about the genetic connection between their diet and health. Founded by Debbie Moon in 2015, the company aims to combine an engineering mindset with biological systems and apply genetics to dietary and lifestyle choices. Genetic Lifehacks claims to use people's DNA to optimize their diets and lifestyles, based on their exact needs.

Genetic Lifehacks Services

Genetic Lifehacks offers the following products and services:

Consultation Reports

The website offers a "Top 5 Topics" report customized based on vital topics for each individual. It spans over 11-15 pages and includes the following:

-Explanation of the topic 

-Discussion of the genetic variants 

Sleep and Your Genes Report

This report analyzes 20+ genes and explains how these genes influence sleep aspects like melatonin secretion, restless leg syndrome, insomnia, and caffeine response.

The report includes the following:

Additionally, it includes information on circadian rhythm and homeostatic sleep drive.

Xcode Life's Gene Sleep Report - 15 traits for $20

Ultimate Cheat Sheet

This cheat sheet quickly shows you which article on the website matches your gene results. It is organized into the following categories:

Each category has a short article description, the risk gene, and a color-coded section for the individual genome. It also explains the different interactions of gene variants from different article sections.

Source: Genetic Life Hacks

Email Course

This free introductory course explains what genetic data means. It is a 4-day course, providing essential information on genetics. 

However, please bear in mind that Debbie Moon is not a doctor. 

She only provides information and opinions, curated using peer-reviewed research and statistics. Individuals must seek assistance from a doctor for any medical advice regarding the provided information.

Genetic Lifehacks: Getting Started

Once you subscribe to a membership plan and purchase a product, you can upload your raw DNA data file from 23andMe or AncestryDNA on the checkout page. The upload process takes about a minute. Once that is done, you can complete the checkout. 

After checkout, you will receive an email with your Top 5 Report within 1-3 business days. 

Genetic Lifehacks Pricing

Genetic Lifehacks offers a membership option to its users at the following rates:

Genetic Lifehacks offers a range of other services for its users.

About Privacy

According to their website, Genetic Lifehacks does not store personal information except when purchasing a product. 

The website collects user activity statistics and cookies to improve user experience. No tracking software is used on the website, ensuring user privacy.

If one chooses to post their personal information like name and email in the comments section, it gets recorded on the site. 

Genetic Lifehacks stores user genetic data offline on an encrypted drive. It is deleted after 30 days and not used for research. The information is used only for consultation and not shared with third parties. 

For further information, read the Genetic Lifehacks Privacy Policy.

What People Say: News & Reviews

You can learn more in the News and Research section of Genetic Lifehacks.

Trendhunter reviewed Genetic Lifehacks and scored it a 4.9.

Pros & Cons

Pros:

Cons:

Genetic LifehacksXcode Life
Type of genetic testingDNA raw data analysisDNA raw data analysis
Ancestry reportsNot offeredNot offered
Health reportsNot offeredOffered
Pharmacogenomic reportsNot offeredOffered
Raw data uploadOnly from 23andMe and AncestryDNADNA raw data from all major providers accepted. Comprehensive list
Number of reports5 topics13
PriceAnnual membership- $39Other services - $29-$99Reports: $10-$40Bundles: $49-$99Price details
Free toolsNil3 free tools (Gene Tool, DNA raw data merge, DNA raw data convert) available for all
Sample reportsNilAvailable as detailed report walkthrough videos

About the Company

Gene By Gene was co-founded in 2000 by Bennett Greenspan and Max Blankfeld, with its headquarters in Houston, Texas. Currently, the company is headed by Dr. Lior Rauchberger as part of a merger with a leading Australian genomics firm, myDNA. The company’s labs are CAP, CLIA, NYSDoH, CA, and AABB accredited.

Gene By Gene laid the foundations of DNA-based ancestry and genealogy as FamilyTreeDNA (FTDNA). The first company of its kind, FTDNA, collaborated with National Geographic’s Genographic Project as their testing provider. 

Gene By Gene Services

The company was the first lab to offer DNA-based ancestry and genealogy services as its subsidiary, FamilyTreeDNA, since 2000. It has now expanded its services to clinical, forensic, and research genetics. Amid the COVID-19 pandemic, Gene By Gene has opened its door for COVID-19 testing services too. The company caters to a wide range of individuals - clinicians, consumers, and researchers - worldwide. 

Getting Started

For starters, clinicians, consumers, and researchers alike can register with the company. Upon registration, they can browse from a list of tests to place an order. The account dashboard has five tabs for browsing.

Clinicians can add as many patient profiles as they want. 

Clinicians can opt for a carrier screening test for other members of the patients’ families, too, if needed. 

Clinical Testing Service

Gene By Gene’s clinical testing services includes the following:

The clinical testing services of Gene By Gene can be availed either as a healthcare provider (for your patient) or a consumer.

Image: Registration for genetic counselors/medical clinicians

Forensics

The company provides Investigative Genetic Genealogy (IGG) services to law enforcement organizations through its subsidiary, FamilyTreeDNA. The company has its in-house lab and many genetic genealogists who discreetly identify individuals. They do so by matching them to unknown samples of DNA from cases involving homicides or sexual assault. This is brought about by familial matching within the FamilyTreeDNA database.

Law enforcement officials can submit their case along with evidence for review to the company. The staff reviews the case and checks for sample suitability before proceeding with testing. 

Relationship DNA Testing

Gene By Gene offers a wide range of DNA testing services, including paternity, maternity, immigration, and legal testing. 

Research Genetics Services

Gene By Gene offers a range of sequencing and microarray services for researchers from academic institutions, pharma companies, and hospital and medical research centers. The labs are CAP/CLIA accredited, and services are HIPAA compliant. Services provided are:

The lab uses Illumina NovaSeq 6000 for WGS and WES services. The data is provided as FASTQ. For Fragile X service, carrier status is checked using AmplideX, FMR1. 

Ancestry Testing Service

Gene By Gene offers its ancestry testing service through its DTC (direct-to-consumer) genetic testing subsidiary, FamilyTreeDNA. This service has an entirely separate website from where clients can access Ancestry Testing's services. The consumer can sign up and start ordering kits with the specific service.

The different DNA tests offered are:

  1. Family Finder - This test focuses on autosomal DNA and finds living relatives on all ancestral lines. This analysis is represented as a percentage breakdown of the different regions of the world from where the consumer's ancestors might have belonged. The test also provides a list of matching individuals who share common ancestors tracing back to five generations.
  2. Y-DNA - This test is for males only. It traces the consumer's direct patriarchal line of descent. The test provides a list of matches who share a standard patriarchal ancestral line tracing to 25 generations. This test is unique as it gives a migrational route of the genetic population of your paternal line - haplogroup - which can be used to find out more about the consumer's genealogy.
  3. mtDNA - This test traces the matriarchal line of descent. It also provides a list of matches that share common matriarchal ancestors tracing back to 52 generations. Additionally, it also traces an ancestral migrational route tracing back 1000 years. 

You can check out our detailed review of Family Tree DNA services here

myOrigins

A part of the Family Finder test, this feature gives a percentile breakdown of the populations to which your autosomal DNA is connected. It can be accessed either from the navigation bar or from the consumer login dashboard.

This feature has two tabs:

DNA match list

The three tests (Family Finder, Y-DNA, and mtDNA) have separate databases of people who undertake each test. Therefore, upon a consumer doing either of the three tests, his data are matched with people who had undertaken the test before and checked for common ancestral descent. This information builds the base for the share origins tab of the myOrigins feature.

Carrier Screening Service

Gene By Gene provides a comprehensive carrier screening service that includes panel tests with 253 autosomal and X-linked recessive conditions (all conditions included by the American College of Medical Genetics and American Congress of Obstetricians and Gynecologists). A simple cheek swab collects the sample for the screening test. The test results are ready in 2 weeks. 

The company also provides complimentary genetic counseling services upon reception of carrier screening results. The service can be directly accessed by contacting Gene By Gene and scheduling an appointment.

Image: Snippet of Carrier Status Report

Xcode Life’s Carrier Status Report - 360+ Traits, $40 - No DNA test required

Additional features

Tryptase CNV (copy number variation)

This test is used to determine the alpha tryptase copy number. It can be requested by healthcare providers, researchers, and consumers to check for serum tryptase levels. Suppose consumers order a test themselves; in that case, the test request form must be approved and signed by the consumer’s healthcare provider. 

* Note: Alpha tryptase is produced by the gene TPSAB1 and beta tryptase by genes TPSAB1 and TPSAB2. Individuals with one copy of inherited α-tryptase on the gene sequence have normal serum tryptase levels. 

Understanding results: 

Eligibility criteria for testing:

For more information: https://genebygene.com/tryptase/#resources https://genebygene.com/tryptase/#w-tabs-1-data-w-pane-1 

Health report

The FamilyTreeDNA website of Gene By Gene has an additional feature of the Health report. This report includes: 

Upon receiving the report, a free-of-cost, half an hour telemedicine appointment with a consulting physician (or a genetic counselor) is scheduled to give the consumer a proper interpretation of their report.

Xcode Life’s Gene Health Report - 55 Traits, $20 - No DNA test required

Pricing

Test Pricing
Court Admissible Paternity Test$425
Peace of Mind DNA Test (paternity)$189
Court Admissible Maternity Test$475
Family Finder $79 $59
mtFull Sequence$159 $139
YDNA37$119 $109
YDNA111$249 $219
Big Y-700$449 $399
Tovana Health Report + Family Finder $899 $879

About Gene By Gene Privacy

The company claims to respect consumer privacy and does not sell or rent out personal information of any kind to a third party without the consumers’ consent.

The company only collects and stores consumer data to operate effectively and provide the best experience of its products. Personal information includes, but is not limited to, names, phone numbers, physical or mailing addresses, email addresses, and genetic test results.

The company uses the stored data to communicate about test progress and results and marketing communications occasionally. One can opt out at any time.

The information is stored in the company headquarters, adjacent to the Genomics Research Center in Houston, Texas.

In addition to Gene By Gene’s Privacy Policy, FamilyTreeDNA adheres to the Genetic Genealogy Guidelines proposed by the Genetic Genealogy Standards Committee in January 2015.

For more information, read Gene By Gene’s privacy policy.

News

In 2018, in collaboration with Dr. Barbara Rae Venter, Gene By Gene helped law enforcement officials arrest the “Golden State Killer” through its investigative genetic genealogy services

In January 2021, Gene By Gene went for a merger with Australian genomics firm myDNA headed by Dr. Lior Rauchberger. 

Summary: Pros and Cons

Pros

  1. The company offers in-depth diagnostic clinical testing services which physicians can trust.
  2. Ancestry reports have in-depth tracing, up to 10, 25, and even 52 generations.
  3. Test kits are easy to use with mostly cheek swab samples.
  4. Provision for trace mapping of ancestral migration routes.
  5. Provision for in-house labs which guarantee discrete and uncontaminated test results.

Cons

  1. Test kits are expensive.
  2. The company does not offer in-depth, personalized lifestyle reports
  3. Test results may take longer to be delivered, especially in the case of international consumers. 
Gene By GeneXcode Life
Type of genetic testingDNA kitsDNA raw data analysis
Ancestry reportsOffered (by FTDNA)Not offered
Health reportOfferedOffered
Pharmacogenomic reportNot offeredOffered
Raw data uploadOnly autosomal DNA data from AncestryDNA, 23andMe and MyHeritageDNA raw data from all major providers accepted. Comprehensive list
Number of reports213
Report updatesNoQuarterly updates
PriceTests: $79 $59 - $475Health Report: $899 $879Reports: $10-$40Bundles: $49-$99Price details
Free toolsNot available3 free tools (Gene Tool, DNA raw data merge, DNA raw data convert) available for all
Sample reportsOnly for carrier screening and Health reportAvailable as detailed report walkthrough videos

NB: Information on Gene By Gene as collected up till 03rd Aug 2021.

What is an MTHFR mutation report?

The methylenetetrahydrofolate reductase (MTHFR) mutation report provides information about the common polymorphisms in the MTHFR gene, which are associated with increased levels of homocysteine in the blood.

What is an MTHFR mutation?

MTHFR is a gene that codes for the enzyme called methylenetetrahydrofolate reductase (MTHFR). This enzyme is responsible for the conversion of inactive folate to active folate. A variation in this gene in some people can disrupt this conversion and lead to various health problems.

What are the symptoms of MTHFR polymorphism?

Some signs of MTHFR polymorphisms are cardiovascular and thromboembolic diseases, anxiety, bipolar disorder, colon cancer, and chronic pain. 

Are all MTHFR mutations important?

Not all MTHFR gene variations are associated with significant MTHFR enzyme activity. There are two important MTHFR SNPs, rs1801133 and rs1801131, associated with the MTHFR enzyme activity. These variations affect approximately 1 in 4 people significantly and about 1 in 2 people mildly. 

Where is my result provided in the report?

Information about the variant of these two highly significant genes is present in the table titled “Prominent MTHFR SNPs.” 

What is my likely MTHFR enzyme activity based on my MTHFR SNPs? 

The MTHFR enzyme activity is provided as a bar diagram below the table titled Prominent MTHFR SNPs. It is based on the two prominent SNPs.

What about the other MTHFR SNPs mentioned in the report?

Apart from the two important MTHFR SNPs, there are other variations in the MTHFR gene which are associated, in varying degrees, with MTHFR enzyme activity. Information about these SNPs is included in the table titled “Other MTHFR SNPs.”

How should the table titled “Other MTHFR SNPs” be interpreted?

The presence of a large number of homozygous (2 risk variants- red color) of high ranking SNPs may be associated with lower enzymatic activity and higher homocysteine levels.

What does rank mean in the table titled ‘Other MTHFR SNPs’?

Certain SNPs are found to have a higher impact, and variations in these SNPs may have a greater impact on health. The ‘Rank’ is indicated as ‘high,’ ‘medium, and ‘low’ depending on the potential impact. Please bear in mind that the Rank is a theoretical value and not experimentally verified.

Why are certain SNPs marked in red?

The column ‘normal’ (e.g., C) is the variant associated with normal enzyme activity, while the column ‘risk’ (A) is the variant associated with reduced enzyme activity. ‘Geno’ refers to your genotype. 

  1. If you carry two risk variants (e.g., AA) for that SNP, then it is marked in red. 
  2. If you carry one risk variant (e.g., AC) for that SNP, then it is marked in yellow.
  3. If you carry two normal variants (e.g., CC) for that SNP, then it is marked in white.

Disclaimer: As always, please bear in mind that human traits are a result of complex interactions between multiple genes and multiple environmental factors. The findings presented in this report are of a preliminary nature and are not considered clinically- or medically- actionable.

For years, diets called for the elimination of fats, urging us to move towards low-fat alternatives. While, like any other nutrient, overdoing fats can lead to weight gain, cutting out dietary fats need not necessarily result in weight loss. Replacing bad fats (trans fats, saturated fats) with good fats (mono and poly-unsaturated fats) comes with benefits that extend beyond weight loss. This article covers everything there is to know about incorporating monounsaturated fats in your diet. 

Monounsaturated Fatty Acids

Fats are an important component of any meal as they help in absorbing fat-soluble vitamins and minerals.

They also store energy within the body, protect vital organs, and help in muscle movement.

Fats are chains of carbon and hydrogen, and depending on the length of these chains and the arrangement of these atoms, they are classified into different types of fats.

The “mono” in monounsaturated fats represents the single double bond that is found in its chemical structure.

Owing to this chemical structure, monounsaturated fats are often liquid at room temperature.

History Of Fat Consumption

Anthropologists claim that the diet of early humans was more similar to that of modern chimpanzees. They consumed fruits, vegetables, leaves, flowers, and meat. It is believed that meat was first consumed about 2.6 million years ago.  

However, our early ancestors engaged in scavenging food rather than hunting. They consumed the edible portions of flesh that were left behind by the predator. Jesicca Thompson, an anthropologist from Yale University, says that the early humans consumed bone marrow stuck in between the bones of the dead animal rather than the “meat.” The marrows are rich in fat content. Thompson claims that it was around this time that humans started adding fat-rich food to their diet. 

Modern-day diet has monounsaturated fats in vegetable and seed oils. A study confirmed that the first use of vegetable oil, particularly olive oil, was seen around 8000 years ago in the Middle East. But it was in the 1600s when people started making oil from vegetables. 

The 1800s saw the widespread use of vegetable oil as the commonly used whale oil became expensive. In the process of making affordable soaps using cottonseed oil, two industrialists in Cincinnati took the opportunity to introduce it in the food industry. In a few years, animal fats were replaced by vegetable cooking oils, and we can still find them in our kitchens today. 

Studies observed that people from the Middle East or the Mediterranean countries had a lower risk of heart diseases, despite consuming a fat-rich diet. Further investigation showed that their diet included olive oil and other seed oils as their main source of fat and not animal fat. This could mean that the health benefits come from unsaturated fats rather than saturated fats from animals. 

Importance of Monounsaturated Fatty Acids

A study consisting of around 840,000 adults aged 4-30 years found that the consumption of monounsaturated fats reduced the risk of heart disease by 12%, compared to the control group (little to no monounsaturated fats consumption)

Monounsaturated fats improve overall health by:

Sources of monounsaturated fats are olive oil, peanut oil, avocados, nuts, safflower, and sunflower oils.

Is There A Relationship Between Monounsaturated Fats And Weight Gain?

Weight gain is caused when the calories consumed are greater than the calories burnt.

All fats provide the same amount of energy, which is about nine calories per gram.

Based on your lifestyle and your basal metabolic rate, including the right amount of fat in your diet, can help with weight management. 

Even though weight gain/loss is a simple equation of calories in and out, the quality of the food you eat as part of your diet is very important.Some studies have shown that if calorie intake remains the same, diets high in MUFAs lead to weight loss and could even be more effective than a high-carb diet.

What Is The Recommended Amount Of Monounsaturated Fat Intake?

It is recommended to use monounsaturated fats as a replacement to saturated or trans-fats as much as possible.

The 2015 Dietary Guidelines for Americans suggest that fats should be limited to 25 to 30% of the total daily calories; this includes all types of fats.

How Do Genes Affect The Relationship Between Monounsaturated Fats And Weight?

ADIPOQ

This gene is involved in the control of fat metabolism (break down) and insulin sensitivity (how well your body responds to insulin) in the body.

Changes in this gene directly affect anti-diabetic, anti-atherogenic (preventing fatty deposit formation), and anti-inflammatory activities.

The gene codes for a protein called the adiponectin, that is involved in aids fatty acid breakdown. Higher the adiponectin levels, more efficient the fatty acid breakdown.

Decreased adiponectin levels are thought to play a central role in obesity and type 2 diabetes.

Changes in lifestyle, such as incorporating exercise and a following balanced diet, that result in weight loss, can lead to an increase in adiponectin concentration and increase insulin sensitivity.

rs17300539

A study found that a variation rs17300539 in the ADIPOQ gene can lead to a difference in blood adiponectin levels.

Individuals with a G allele have lower blood adiponectin levels when compared to those with an A allele. Carriers of the A allele (AA/AG), therefore, had lower weight, BMI, waist, and hip circumferences.

While considering the monounsaturated fats intake of greater than 13% of the total energy intake, the A allele carriers had a considerably lower BMI compared to GG carriers.

This shows a relationship between the effect of a gene on monounsaturated fats intake and weight.

NR1D1

NR1D1, also known as Rev-ErbA alpha, is present in the liver, skeletal muscles, adipose (fat) tissues, and the brain in mammals.

Adipogenesis is the process by which adipocytes, or fat cells are formed.

Rev-ErbA alpha includes adipogenesis and could be a potential target for novel anti-obesity treatments. 

rs2314339

A study analyzed the association between NR1D1, monounsaturated fats intake, and weight in North American and Mediterranean populations.

People with the AA and AG types had a lower waist circumference and a decreased risk for obesity than people with the GG type.

The A allele occurrence was also significantly low in the ‘abdominally obese’ group.

There was also a significant interaction for obesity with NR1D1 and monounsaturated fats intake in the Mediterranean population.

Individuals with the A allele had higher protection against obesity with diets rich in monounsaturated fats. (>55% of total fat).

PPARG

PPARG is a gene predominantly present in adipose tissue. It plays a role in adipocyte differentiation (converting one type of cell to another), regulating glucose levels, and insulin signal transduction (communication between two cells).

A change in this gene has been studied to play a role in increased sensitivity to insulin and a more favorable lipid profile.

rs1801282

A study recruited overweight subjects between the ages of 20-65 years in southeastern Spain.

They analyzed the subjects as they underwent a treatment program for obesity.

This included analyzing the diets and the number of calories expended during exercise.

They found a gene-diet interaction between PPARG and monounsaturated fats intake.

People who had the G allele (CG/GG) were significantly less obese than those with the C allele (CC) - when monounsaturated fats intake was high (>56% of total fat).

This difference disappeared in low monounsaturated fats diets. 

Overall, in each case, diets with high monounsaturated fats intake (>55% of total fat) resulted in a greater weight loss in individuals.

Food Sources Of MUFA

Most foods have a combination of all types of fats. Foods and oils that have a higher percentage of MUFA are:

Summary

Fats are a necessary component in a balanced diet. However, not all types of fats are healthy. While saturated fats are the ‘bad fats,’ the unsaturated fats are ‘good fats.’ Monounsaturated fats or MUFAs are fats joined by a single bond. They help reduce the risk of health conditions like diabetes and cancer. They also enhance insulin sensitivity and, therefore, play a role in weight management. Several genes ADIPOQNR1D1, and PPARG, mediate how your body responded to MUFAs in terms of weight gain. People with certain types of these genes tend to benefit more from MUFA consumption in terms of weight loss and can include more MUFA-rich foods in their diets. Some food sources of MUFAs include avocados, olive oil, peanuts, and eggs. Even though MUFAs are present in certain animal sources like red meat, their benefits are negated by the saturated fats in them.

Reference

  1. https://www.nature.com/scitable/knowledge/library/evidence-for-meat-eating-by-early-humans-103874273/
  2. https://insidescience.org/news/importance-fat-early-human-evolution
  3. https://www.academia.edu/9517113/Olive_oil_storage_during_the_fifth_and_sixth_millennia_BC_at_Ein_Zippori_Northern_Israel
  4. https://www.health.harvard.edu/staying-healthy/the-truth-about-fats-bad-and-good/
  5. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4198773/
  6. https://www.healthline.com/health/what-is-basal-metabolic-rate
  7. https://www.medicalnewstoday.com/articles/323027
  8. https://www.medicinenet.com/script/main/art.asp?articlekey=17982
  9. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5486142/
  10. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2753535/
  11. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4059404/
  12. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3951915/

There are many different types of genetic tests that are used for a range of applications, from ancestry analysis to diagnosing clinical conditions like Alzheimer’s. The type of genetic test to be performed is based on your reason for testing. Each type of test differs in the information it can provide, the amount of data obtained from it, its cost, accuracy, and even the sample used for the test (saliva, blood, hair, etc.).  

Genetic testing is used to identify the changes in your DNA sequences, also known as mutations or variations. 

As a simple example- if the word “APPLE” were a gene sequence, it will be spelled correctly in the majority of people; however, you may carry a “variation” of this gene that is spelled as “APBLE.” 

Biologically speaking, many of these changes are harmless, meaning small spelling variations do not alter the individual’s health. However, some variations are harmful or advantageous to varying degrees. 

The analysis of your DNA data reveals what variations are present in your DNA and their effects on your health.

Genotyping test

The genotyping test is one of the most inexpensive tests available in the market. This test is also very popular among consumers since it is widely marketed by many direct to consumer (DTC) genetic companies like 23andme and AncestryDNA to perform ancestry and health analysis.

Genotyping reveals the differences in a sample DNA sequence by comparing it with the reference DNA sequence. 

As a simple example, if A-P-P-L-E is the reference gene sequence, and the sample sequence is A-P-B-L-E, genotyping tests will be able to detect the P→ B change. This kind of change in a single letter is called a single nucleotide polymorphism (SNP). Your genome contains around 4-5 million SNPs that may be unique to you. 

Most SNPs do not have any significant health implications; however, some of these differences may be indicative of the development of certain health conditions or certain unique traits related to your health and wellness. They can be advantageous or disadvantageous to various degrees. These DNA variants or genotypes may act alone or in concert with a few to several hundred other DNA variants to create a health impact.

Genotyping has a broad range of applications, including ancestry, pharmacogenomics (ADME), fingerprinting, clinical and health conditions, and lifestyle and wellness traits. Though generally, genotyping is not the test of choice for health or clinical applications.

A note on genotyping:

Genetic tests based on the genotyping chip method have an accuracy of more than 99% when performed using standardized protocols in certified labs. However, even the less than 1% inaccuracy amounts to a few hundred variants, some of which can be important. Typically, genotyping tests are not used for clinical or diagnostic purposes.

Targeted sequencing

The full human genome is 3 GB in size. You can imagine a book with chapters, pages, paras, and sentences which is 3 GB in size. Your clinician may only be interested in para two on page 100 in chapter 3 because it is relevant to the condition he/she is treating you for. He will order a test for your known as targeted sequencing, which is designed to read specific segments of the DNA. This test is much cheaper than reading the whole genome and has a significantly shorter turnaround time.

Targeted sequencing is typically used for:

Whole-Exome Sequencing (WES)

Though the genome is 3 GB in size, much of it is filled with pages that scientists don’t yet understand the meaning of. Approximately 98% of the genome is not yet understood. The 2% that scientists do understand is known as the exome. Many people prefer to go for a test that reveals the information in their entire exome- this is known as Whole-Exome Sequencing (WES).

Exome sequencing is typically used for:

Whole-genome sequencing test

If you prefer to have your whole genome analyzed, a Whole-Genome Sequencing (WGS) test is what would be performed for this purpose.

Whole-genome sequencing is typically used for:

The accuracy of sequencing tests depends on what is known as ‘Coverage.’ Coverage, also termed as ‘sequencing depth,’ refers to the number of times the DNA sample gets sequenced. Essentially, the higher the number, the higher the accuracy. 

TechniqueCostSiteCoverageData Size(depends on coverage)
Targeted sequencing$300-$1000The specific region of interest200-1000x100 MB–5 GB
WES$500 - $2000Exome150-200x5 GB–20 GB
WGS$1000 - $3000Genome30-60x60 GB–350 GB

Before choosing a genetic test, it’s important to keep in mind a few points:

  1. No one genetic test can predict/detect all diseases. There are genetic and non-genetic factors of diseases and all factors need to be considered as a whole to arrive at a diagnosis. In addition, not all genetic factors are known to science yet, so, even if the whole genome is sequenced, there will be many “variants of unknown significance” in the genome.
  2. The effects of a lot of mutations are still unknown. 
  3. The results might be inconclusive. In some cases, the results may not provide any useful information about the gene of interest or may identify a variant whose effects are unknown at large. 
  4. You may receive some unexpected results which may not be relevant to the condition being investigated. This often happens with whole-genome sequencing.

Recently, DTC genetic tests have become very popular due to a combination of reasons:

1. Decreasing costs of genetic tests

The cost of genetic testing in general has been decreasing primarily due to technological advancements and increasing consumer demand.

2. Increased interest in proactive self-care

Over the last few years, the self-testing trend has gained popularity due to an increase in self-awareness and self-monitoring.

This trend is facilitated by self-learning over the internet and other media and the availability of low cost internet-connected wearable devices enabling us to understand our bodies better.

3. Personalization

Personalization in various aspects of health and well-being. We are at the end of the one-size-fits-all era.

We understand that carbohydrates are not equally bad for everybody, fat does not always cause high cholesterol levels, and COVID-19 does not affect everyone the same way.

Genetics enables us to understand our uniqueness in several aspects of life.

4. Ancestry has become a popular interest

Ancestry testing is the largest segment in DTC genetic testing. People love understanding where their ancestors came from- their genetic genealogy.

Not only that, The DNA data also allows people to discover their biological parents, siblings and other relatives through a variety of online services!

If you have received DTC genetic reports from one of many sources available, you may have come across the following:

Some results confirm your own observations about yourself, while others don't. Why?

There could be several reasons for this:

Some examples of mismatch between self-observation and your genetic results: 

> You have been drinking milk all your life without complaints, but your genetic test results indicate that you are lactose intolerant.

> Your genetic results indicate that your are NOT gluten intolerant, however, you have issues consuming gluten.

The above are but a few examples of how there might be a mismatch between your genetic results and your own observations about yourself.

Regardless of the reasons below, please remember that your observations or your physicians/healthcare professional’s assessment of your health overrules the findings of the genetic test report.

In other words, your consumer genetic test report is always secondary to other assessments.

  1. The field of genetics is fast evolving and our current state of knowledge is still in development. It’s possible that current research indicating a specific association might be revised in future.
  2. The research based on which a specific trait is associated with a variant is not applicable in all ethnicities. Meaning, it is true for some ethnic groups and not true for others

Genetics is about probability. Having a variant only increases the likelihood that the association may be true for you, but it's not certain. It’s very much possible that other genetic and non-genetic factors overcome the association.

Regardless of what your fitness goals may be, aerobic capacity is an important metric to focus on. It determines how well your body can utilize oxygen. Simply put, the better the aerobic capacity, the longer you will be able to sustain exercises. Aerobic training not only helps achieve peak fitness but also improves cardiac health and respiratory functions. An individual's genetic makeup can determine up to 50% of their aerobic capacity by influencing factors such as antioxidant production, heart functioning, etc. The analysis of such genes and their variants can give a clearer idea of the kind of training you need to take on to achieve maximum results.

Aerobic Capacity: How do you define it

Aerobic capacity (AC) is the maximum amount of oxygen consumed while performing intense activities that involve large muscle groups. 

It is also a measure of how effectively the heart and the lungs get oxygen to the muscles. Hence, improving your aerobic capacity can directly result in more efficient use of oxygen by the body. 

The other term which is used to describe aerobic capacity is vO2 max. 

However, the vO2 max also takes into consideration the individual's body weight. 

Calculating Your Aerobic Capacity

One of the best ways to estimate your cardiovascular fitness is by calculating your Aerobic Capacity.

If you are in a fitness center, one of the following two techniques can be used to measure your AC

A simpler and less accurate way of measurement is a walk/run test

This requires walking/running at the maximum speed you can and measuring your heart rate at the end of it.

With this measurement, you can use one of the many online calculators that are available to check your Aerobic Capacity.

For instance, Rockport walk test is one such calculator that requires the input of your heart rate, time of the run/walk, and your weight to calculate your Aerobic Capacity.

The Genetic Story

Genes majorly control a lot of factors that have an association with the fitness levels of an individual.

According to a study in 2016, 155 genetic markers were found to be associated with better athletic performance, 93 of which were endurance-related markers, and the other 62 were power/strength related markers.

Polymorphisms of ACE, ADRB, ACTN3, PPARGC1A were one of the first genetic markers found to be associated with athletic performance.

There's another famous exercise genetics study conducted by a consortium of five universities in the United States and Canada revealed astonishing variation in the aerobic capacity amongst the 481 participants.

The study subjected its participants to identical stationary-bicycle training regimens with three workouts per week of increasing intensity under strict control in the lab.

The results

These can be attributed to the variants of genes like NRF1, NRF2, VEGF, PPARA, etc. that an individual carries. 

The nuclear respiratory factor (NRF2) gene influences the vo2 max. NRF2 regulates the expression of antioxidant proteins and thus can influence the oxygen uptake.

Carriers of certain genotypes may respond better to training than the others.

GenotypeImplication
AA57.5 % higher training response
CCNormal training response

Some genes affect a few secondary traits that exert influence on aerobic capacity.

For example, genetic variations in VEGF in the gene influence heart structure, size, and function. These have an impact on the stroke volume which is an important determinant of aerobic performance.  

GenotypeImplication
GGReduced aerobic performance
CCNormal aerobic performance 

Improving your Aerobic Capacity

Genetics is only 50% of the fitness story.

The rest wires down to other factors like your lifestyle, your eating habits, and your training. 

Getting at least 150 minutes of moderate aerobic exercise, or 75 minutes of vigorous activity each week is vital to ensure a longer healthier life

Knowing why

Augmenting your aerobic capacity can result in better blood and oxygen flow to muscles.

Therefore, this promotes faster recovery between sets and improves your flexibility.

Aerobic exercises include walking, running, cycling, swimming, and almost every other cardio workout.

When aerobic exercises are performed, your heart is trained to deliver more oxygen in a said span of time, and at the same time, your muscles are trained to utilize the oxygen delivered more efficiently.

To improve your aerobic capacity, it is important to understand how your body builds endurance.

It depends on the following three things:

When you train to increase all the above-mentioned variables, naturally the amount of blood and oxygen, reaching your muscles increase.

This, in turn, has a positive effect on your overall athletic performance.

Knowing how

Highly recommended aerobic exercises

Aerobic training usually, targets large muscle groups of your body that boost your heart rate for longer periods of time.

Some of the commonly recommended aerobic exercises include 

  1. Walking and running: Other than helping you lose weight, walking, and running at moderate paces also help people with joint problems.
    If you do not have access to outdoor space, treadmills can also work.
  2. Swimming: Water aerobics in general, are easy on your joints due to the buoyancy offered by the water.
  3. Cycling: Cycling is an amazing leg work out and exerts lesser stress on joints in comparison to walking or running.

Some of the aerobic exercises that you can do at home include:

Other added benefits

If you are already not inspired to take up aerobics, take a look at the benefits you can acquire from aerobic training.

  1. Regular aerobic training improves your overall fitness.
  2. It reduces the risk of certain health conditions, including type 2 diabetes, high blood pressure, heart diseases, colon, and breast cancer. 
  3. Management of stress and other mental conditions, including anxiety and depression, can be made easier by including aerobic exercises in your workout schedule.
  4. Since aerobic exercises target larger muscle groups in your body, it helps with weight loss
  5. For people with asthma, aerobic exercises help reduce both the frequency and intensity of the asthma attacks.
  6. Brisk walking/running can improve overall bone health. In addition, studies have shown that regular aerobic training can reduce the risk of osteoarthritis.
  7. It improves the body's ability to use stored fat as energy.

Reference

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4114002/

https://www.ncbi.nlm.nih.gov/pubmed/17357964

https://www.ncbi.nlm.nih.gov/pubmed/25729143

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Published on 27 July, 2020

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