I’ve had 4 genomic tests in my life – with Navigenics, Pathway Genomics, My Gentle Labs and Futura Genetics – with 4 different results and experience, but there are many more on the market (FamilyTreeDNA, Ancestry.com, Complete Genomics, or WeGene). I summarized my findings with Navigenics here, with Pathway Genomics here, with Gentle Lab there and with Futura Genetics recently there. I also analyzed and regularly re-analyze my own raw data with Promethease. As a researcher with a PhD in genomics, it is fascinating to see how such tests work in action. I love the possibility to get insights about my genome, not just measuring my vital signs with the help of sensors and wearables.
Learning what mutations I carry and what drugs I would be sensitive to were important pieces of information. But the advice I received from companies was not life-changing. I knew already what I need to do to prevent as many diseases as possible. And I am sure you are also familiar with such facts without any genetic analysis as avoiding smoking, minimizing alcohol consumption, exercising regularly and keeping a healthy diet all contribute to a longer and healthier life.
The goldmine in your hands – raw data
Then I found out I have a goldmine in my hands which I haven’t even started using yet: raw data. Most companies offering genetic tests let users download their raw data. Although only genetic experts can analyse such complicated data sets, more and more services aim to help users do it themselves and thus learn on their own from their data. This does not substitute the professional analysis provided by the companies’ genetic counselors, but it can still be useful.
Thus, if you had a genetic test and get the raw data, you could trace back your ancestors and might receive information whether your great-great grandfather was an Inuit or lived in the jungles of Sumatra and you might get to know what medical conditions you have a risk for. Moreover, as the FDA shut down many of these services, you don’t even get reports from them. 23andme, for instance, only provides you with ancestry reports and uninterpreted raw genetic data in certain countries.
It’s amazing that according to Interpretome.com individuals vary at the genetic level by about 1 in 1300 bases, so any 2 individuals share about 99.97 per cent. So many differences in the remaining 0.03 per cent!
So let me show you the most helpful tools to analyse your DNA!
Promethease is a literature retrieval system that builds a personal DNA report based on a specific scientific literature to be found in SNPedia (a wiki investigating human genetics) and a file of genotype (DNA) data. Customers of DNA testing services can use it to retrieve published data about their DNA completely independent of whichever company produced the data.
You can upload your file from your own computer, and the analysis will take only 15 minutes and cost $5. Finally, you will receive a personalized report that summarizes the important details of the data and directs you to scientific literature to learn more. The report provides genealogical details to help you learn more about your ancestry and health information regarding your genetic risks for certain illnesses such as Alzheimer’s. I think that it is the most comprehensive and the best tool on the market at the moment.
One of the most common uses of DNA testing is in uncovering family genealogy. Using consumer DNA testing services, you can uncover your family lines going back several generations. You can identify your racial makeup, familial ties and geographical background.
GEDmatch provides DNA and genealogical analysis tools for amateur and professional researchers and genealogists alike. It allows you to upload raw data from three DNA testing services; AncestryDNA, FTDNA and 23andme. With its help, you can check for DNA matches with other people who have used similar testing services, determine family connections as far back as possible, learn about your ancestry composition and even check, whether two people, for example, your parents are related or not.
The Oy, My Genes! website can only analyse your 23andme genetic data and they specify on their Facebook page that you have to speak with a genetic counselor before acting on your results or making any decisions. It examines your DNA for specific diseases such as breast cancer, Crohn’s or Gaucher disease or Factor XI deficiency.
Genetic Genie also works with your DNA results from a 23andme test. It gives clear and concise and above all, accurate interpretations of the results. This service is free but asks for a voluntary 5 dollar donation.
The website promises to analyse methylation and to give your detox profile. The former is important because incorrect methylation can cause a wide range of serious medical conditions. It seems to be a particular problem among people with chronic Lyme disease, autism and Chronic Fatigue Syndrome.
The detox profile looks at gene SNPs of the Cytochrome P450 detox enzymes, amongst others. It is important to look at this specific information because certain genetic polymorphisms have been shown to impair detoxification of drugs, hormones, environmental toxins, xenobiotics, and more.
The Nova Scotia-based performance company works with several athletes aiming to use the collected DNA information to improve the performance, health and safety of sportsmen. They take a swab of spit and map genetic profiles of the athletes. They also use raw data originating from 23andme and AncestryDNA.
For analyzing and interpreting genetic data, Athletigen Technology Inc. has a team of researchers who use a combination of current studies and their own work. These genetic tests could reveal additional insight, from a heightened risk of injury through nutritional demands and allows the helpers of an athlete to adjust his or her workout plan and nutrition accordingly. Thus, Athletigen may uncover an athlete’s heightened sensitivity to saturated fat, which would allow its staff to prescribe a more effective meal plan.
The Interpretome website only analyses raw data stemming from 23andme and Lumigenix. It offers the most comprehensive analysis currently available on the market but it specifies on its online space that the results are only for educational and research purposes, the information should not be considered diagnostic.
With the help of Interpretome, you can profile your risk for type 2 diabetes, you can access the genome-wide association studies (GWAS) database which contains many information about variations in genes and their attributes to diseases, you can get the best possible “educated guess” about the appropriate level of your warfarin dosing or you can explore DNA variants which may alter your response to specific drugs and pills. Regarding genealogy, you can receive information about your genotype compared to a panel of other individuals, results about the various ancestry pattern components in your DNA and about the most likely populations that your chromosome might originated.
Infino.me describes itself as a citizen science experiment to help people lose weight, feel better, and live longer. They use genomic and health tracker data to get to the bottom of two of the most common diseases in the United States: heart disease and cancer. Thus, you can also upload your 23andme DNA testing data and the data from your fitness and health trackers such as FitBit, Jawbone, Whitings or Beddit. Anyone can participate in the project, so if you would like to be part of an awesome experiment and browse among the best data visualization available, do it!
Genomapp is an app that analyses your genetic raw data in 5 minutes (!) to give you the information of your DNA based on 23andme, Ancestry or Family Tree genetic test data.
They have the most extensive list of conditions (diseases) from public sources. When you submit your raw data file to Genomapp you obtain a report which associates your genotype with a list of conditions. The report contains different categories such as complex diseases (cancer, Alzheimer, Parkinson’s disease), monogenic diseases, inherited conditions, drugs response and traits.
If these tools cannot alleviate your appetite, you can find more information here.
Only one question remained…
Who should analyze your genome? Geneticists or you? Regulatory agencies should decide!
My genetic researcher self thinks it makes sense to highly involve a geneticist and a physician in the process of analyzing your genome. Interpreting the exceptionally complicated results is tricky and a layperson might draw false conclusions even by using such services described above.
My e-patient self thinks it is my right to analyze my own data and I’m free to use any services for this purpose.
The solution lies in the hands of policy makers and regulatory agencies such as the American Food and Drug Administration (FDA) that should lead this movement by demonstrating clearly what we need from such companies.
While the freedom to access information about our health is crucial, regulatory agencies must make sure the data patients receive is accurate and is discussed with a genetic counselor or physician. Otherwise, patients might interpret results wrongly. In five-to-10 years, genome sequencing will become accessible to almost everyone, and won’t be limited to big companies with serious capital. When that time comes, the FDA will face a serious scenario in which patients access the information in their DNA and analyze it at home with services like IBM Watson. They won’t need to involve any healthcare professional. But lifestyle and medical decisions based on such information will still require expertise that only trained physicians can bring to the table.