There are a variety of online 23andMe raw data tools for interpretation that allow people to upload their raw data to get back different kinds of reports. You can broadly classify these tools into “tools for experts” and “tools for everyone”.
A study on consumer usage of third party raw data analysis tools was published in November 2017 in the journal Molecular Genetics & Genomic Medicine that using feedback from social media platforms like Twitter and Reddit. According to the results of the study, only 34% of the participants were “very satisfied” with the results provided by third-party raw data analysis service providers. However, 47% of the participants reported that, though they knew the information in the reports were valuable they needed more help in interpreting this information better.
According to Sarah Nelson, the author of another study on 23andme raw data tools and their methods:
In conducting interviews with tool developers, I came to realize something quite remarkable: many (roughly half of those I interviewed) don’t think they are interpreting genetic data at all. Rather, they view the tool as simply linking users’ genetic data to relevant scientific publications or genetic annotation databases, acting as what one developer called a “bridge the literature.” It became clear that developers view these bridging or linking activities as distinct from interpretation, the latter involving further personalizing or packaging the information for the user.
The complete study including details of the methodology can be found here.
23andme raw data tools like Promethease links available literature to the rsIDs that are found in the raw data of the user. Genetic Genie, another 23andme raw data tools, lists down the rsIDs and “+/-”, “-/-” or “+/+” to indicate one mutated, no mutations, or both mutated alleles respectively. But what does this mean to someone who is looking to make dietary or lifestyle changes based on the genetic report? Given that genetic testing is an upcoming field with many myths and misconceptions, it is an uphill task to get consumers to understand the benefits of knowing more about your genetics.
Good news is that there are already tools that cater to both the common folks and the geeks. Here is a list of 3rd party tools that perform raw data analysis to give different types of reports.
DNA.Land is a not-for-profit community website run by academics affiliated with Columbia University and the New York Genome Center. The site offers a biogeographical analysis, imputation and a relative-matching feature.
Wegene provides an ancestry re-analysis of 23andMe results.
A service using raw DNA data to compile reports about how genes influence traits. Traits covered include eye color, earwax type, armpit odor, lactose intolerance, Asian Flush, and taste and smell sensitivity. Identifies the ancient origins of genes; reports on whether certain alleles originate in Europe, Asia, Eurasia, or Africa. Users can see how genes have been passed down from parents to a child.
Xcode Life Xcode produces thoroughly curated, easy to understand genetic reports that can be used by professional practitioners as well as individuals. They can re-analyze data from 23andme, AncestryDNA, FTDNA, MyHeritage, Living DNA, Vitagene, Dante Labs among several other companies.
DNA Fit is a company which accepts raw data from 23andMe for $50 for mainly nutrition and fitness reports.
Livewello Provides health and trait reports using raw data from 23andMe, AncestryDNA, and FTDNA for physicians and advanced users. Twenty traits are provided with the Livewello Gene App. A subscription is required to access the manually curated health reports. The website also offers free health record managers and data charting applications.
Vitagene Is a genetic testing company that does raw data analysis for nutrition, fitness and nutrient supplements. These are bundled into their health package. However, they do not have a dedicated health report that covers disease predispositions.
Anabolic genes Anabolic genes is an online third-party raw data analysis tool for mainly nutrition and fitness reports. They were previously only accepting biological samples. They have now tied up with Genetic Concept for raw data analysis of only 23andme raw data.
Athletigen Is tool that is limited to sports-related reports which include nutrition and fitness
Nutrahacker focuses on reports related to vitamin supplement information
Genetic Genie It is an online tool that uses your raw data from 23andme. It returns a report with a list of genes related to the methylation and detox pathways, the rsIDs and the status of the allele as given in the 23andme raw data file.
Strategene is an online tool that analyses your raw data to give information on 20 genes, which the website refers to as “core SNPs”. For information on more genes which are referred to as “Bonus SNPs,” you need to pay extra. This will add information on 10 additional SNPs.
GeneKnot A site which allows the user to upload genome data and compare DNA with other people with similar disease risks.
Promethease Accepts data from any genetic genealogy company and will generate health and trait reports based on current literature.
Codegen A free comprehensive health report using 23andMe raw data.
A) Genetic Dating Sites
The ‘DNA Romance’ service analyzes your DNA to forecast the level of chemical attraction between you and other members, to help you find your perfect partner.
B) Wine Tasting
Vinome analyzes your DNA and taste preferences, then matches you with wines selected for your unique palate. They also have an online store for wines bottles that suit your taste.
Helix has an online store for some interesting merchandise like scarves, tote bags, and tartans. The patterns are formed by assigning one color for each nucleotide (A, T, G, C). You can even choose the color that you want to be assigned to each base.
DNA Geek offers interesting products like Haplotees, gears, and mugs. You can get your haplogroup printed on them and flaunt your origins.[/vc_column_text][vc_custom_heading text="Other 23andme raw data tools
" font_container="tag:h2|text_align:center" use_theme_fonts="yes"][vc_column_text]These are tools that cannot be used unless you have a definite background knowledge in genetics and statistics.
David Pike's Tools started off as a personal experiment or analysis of autosomal raw data results from companies like 23andme. It was then made available publicly for anyone to do their own personal analysis of their autosomal raw data.
Imputeme is a service that imputes 23andme/Ancestry DNA/MyHeritage data to provide extra SNPs as well as multi-SNP risk-signatures for all common disease traits, and extra rare-mutation investigations.
Infinome is an online tool that enables you to look up each of the SNPs in your 23andme or Ancestry DNA raw data and check the associated risk that the SNP confers for a particular disease.
Type of reports:
Interpretome is a set of online tools from Stanford University for analyzing your personal genomic data.
OpenSNP allows customers of direct-to-consumer genetic tests to publish their test results, find others with similar genetic variations, learn more about their results, find the latest primary literature on their variations and help scientists to find new associations.
Oxford Statistics Phasing Server is a free utility to phase whole genomes based on VCF files
Reich Lab software comprises of a range of tools available from the Reich Lab. These programmes are likely to be of interest to advanced users.
There are many of you out there who uploaded your raw data to Promethease expecting to learn some insights on your health. As the name implies, the simplified Promethease report is a simplified version of your Promethease report.
The simplified Promethease report sources content from your Promethease report and organizes it in a topical, concise, easily readable and printable table format. [/vc_column_text][vc_column_text]In the Simplified Promethease report, all health category-related information is organized into a printable table.
The Simplified Promethease report has information from your Promethease report organized in the following topics.
Over the years, we have had several requests from our customers asking if we can re-interpret the Promethease report for them. The Promethease report is full of technical information that is difficult to interpret by non technical folks. We have taken this feedback and addressed this issue. The simplified Promethease report is topically organized, concise - giving you the most relevant information, and presented in a printable format.
You can receive your Simplified Promethease report by uploading your Promethease report to Xcode.Life website. Please select “Simplified Promethease” as the product option.
We have temporarily discontinued this report.
Promethease is a third party service which provides health related information based on DNA ancestry raw data from companies such as 23andme and others. After the brief FDA ban on 23andme, Promethease and other companies stepped in to fill the gap.
Post FDA ban, 23andMe could only provide the ancestry reports and the raw data information from the ancestry DNA test. The raw data file contains a list of rsIDs of SNPs. It also includes the relative chromosome position and the exact nucleotide base change at that position.
The 23andme raw data is of little use to people who do not have a background in genetics and biostatistics. However, the raw data file can be used to obtain health related information such as nutrient requirements, predispositions to complex and monogenic genetic conditions, allergies, carrier status, individual status of well-studied genes like MTHFR and BRCA1 and BRCA2 from service providers such as Promethease and Xcode Life.
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. For Non-European users, the DNA raw data will be shifted to MyHeritage into new accounts which will be created for them. However, the users will retain the ownership of their DNA raw data file and are free to delete it from MyHeritage’s server.
Promethease reports are based on SNPedia, a Wikipedia-styled repository. Promethease retrieves all relevant literature from the SNPedia database. This takes around 15 minutes. The report is organized in a single rs ID format. This means that the gene markers are listed by their dbSNP identifier with the potential risk provided next to it.
The red border indicates that the particular SNP has a bad implication for you. An explanation is provided in the grey box below with links to the respective references from SNPedia.
Sometimes you will see a similar passage below a gs ID. The gs IDs represent a genoset, which refers to a group of SNPs that affect the same phenotype (shown below). They may or may not mention the rsIDs of the SNP. Promethease is full of such terminologies that you may want to familiarize yourself with first before you dive into your reports. The adjoining table indicates the Repute, Magnitude and Geno time. Explanation for all three can be found here.
It is relevant to point out here that the Promethease report is not a result of analysis or algorithms. It is just a literature-retrieval system. Multiple polymorphisms influence human health conditions and traits. Predispositions to complex health conditions are analyzed using algorithms that take into account the combined effect of these polymorphisms.
A lot of conflicting information is published on these actively researched diseases on a regular basis. Interpreting these needs expert-curation. For example, if you select Acute Lymphoblastic Leukemia (ALL) from the side menu, Promethease might dig out 3 sources that indicate your increased risk for ALL (bad repute), 1 for decreased risk (good repute) and 2 which are neutral or repute not set. They are not weighed against each other to give you a strong case of yes or no.
Repute according to the SNPedia website applies to a single genotype. The repute of a genotype maybe good, bad or not set. Since the Promethease report follows the single rsID format, the repute for each genotype is give in a table adjoining the passage along with magnitude and geno time. Unfortunately, this form of presenting can be misinterpreted by individuals who are using the Promethease report to make lifestyle alterations.
For example rs4132601(G;T) confers a bad repute for ALL according to the report. This does not mean that you rush off to an oncologist demanding an explanation. It only shows that there is literature evidence for that SNP to have a relatively strong genetic influence on ALL. Many diseases have multiple genetic components along with other external factors. Moreover, not all studies report the same findings. This may change when a larger study with a better sample population gives a different result.
If you do not want to see the repute color codes, you can choose the color-blind option and read your report without any visual bias.
Human health is the manifestation of a complex interplay between genetics and the environment. In this light Promethease reports tend to set off a panic attack in people who do not have technical background. Health reports from Xcode Life and 23andMe
You can read a more in-depth comparative analysis between health reports from Xcode and Promethease or refer to the table below. Xcode now offers all the inherited health conditions covered in the 23andme health report in their Carrier Status report. The genetic risk factors covered in the 23andme health report is covered in the Xcode Health report.
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As often emphasized by genetic testing companies, the health related information provided by various third party providers are not for medical purposes. Only clinically certified tests can be used for such purposes. DNA ancestry tests such as those from 23andme, Ancestry DNA, Family Finder test from FTDNA are not clinically certified. Please bear in mind that the labs in which these tests are carried out may be certified, and many companies showcase this fact, but the certification of lab is not the same as the clinical certification of the test.
The only exception to this is a handful of traits reported by 23andme that are now FDA approved. All of the health traits reported by 23andme including the FDA approved traits are now covered in the Xcode Life health reports. One helpful consideration while evaluating the ancestry DNA tests is to look for the number of genetic markers being tested and the version of the chip. The 23andme v5 chip (GSA, Illumina) covers around 650,000 markers. Illumina has said that it is more health report-friendly than their OmniExpress versions that are still being used by companies like Ancestry DNA and Family Tree DNA. You can read more about the health markers covered in the 23andme v5 chip here. Living DNA also uses the same chip.
We recommend the 23andme ancestry test to clients who are interested in using the data for Xcode Life health reports. This is because of large number of health related markers present in the 23andme v5 chips which gives better health related information.