It has been nearly 4 years ago that FDA has issued its warning letter to 23andMe. What happened since?
The company had to suspend returning the health-related information back to the users. In February 2015, the first success for 23andMe with a clearance for Bloom Syndrome carrier screen. Later, in October 2015, the company stated that it will re-start marketing the carrier screening once again. This was possible because the FDA stated that 510K application and a review will not be needed for other carrier screening tests.
Carrier screening tests allow you to determine if you are a carrier of a particular genetic variant that when inherited from both parents can cause a serious and frequently terminal disease in a baby. Some diseases are curable but it is good to know that there is a chance of such disorder allowing for early diagnosis in a baby. Such tests are offered by a number of companies and clinics.
However, the initial offering by 23andMe included also risks for diseases such Alzheimer’s or Parkinson’s. In those cases the inheritance pattern and risk associated with a particular variant is much less well understood. These were diseases for which the FDA did not agree to have reported until further work is done on ensuring soundness of the advice. As a result 23andMe filed 510K to market additional tests. In April this year (2017), the FDA approved reporting on Genetic Health Risk (GHR) for 10 additional diseases: Late-Onset Alzheimer’s Disease, Parkinson’s Disease, Celiac disease, Hereditary Thrombophilia, Hereditary Hemochromatosis, Alpha-1 Antitrypsin Deficiency, Glucose-6-Phosphate Dehydrogenase deficiency, Early onset of Dystonia, Factor XI deficiency and Gaucher’s Disease type 1.
So what do you get now for your money? You have two options, Ancestry test or Health and Ancestry. The price difference at this time is $100 USD between the two tests. Since the company runs actually a full profiling, you can add health analysis to your package later. By ordering both at once you save $25 USD. The choice is yours. Health and ancestry test in addition to ancestry, carrier profile and health report on the 10 conditions also returns information on wellness and traits. The last two categories identify some variants known for association with weight, lactose intolerance, caffeine consumption, eye color, or your taste buds.
The tests are run using your saliva sample collected in DNAgenotek saliva tubes. DNA is then extracted and prepared for running on a custom Illumina HumanOmniExpress-24 format genotyping chip. The collected data is then analyzed and a digested form is returned to you as multiple reports. You can also access your raw data for variant or gene search, or for a download.
Ok, so the tests are pretty much back, you get your information and now what? Say there are no variants associated with any of the diseases. Does that mean all clear? Not quite, complex diseases are not so simple, there are other genes and other variants that we may or may not know about that affect those diseases. All you know that you do not have any of well known detrimental variants shown to be associated with a disease. What if a variant known to cause a particular disease was detected? The best thing you should do is to go and see a genetic counselor. They will be able to discuss the finding with you and recommend what can be done and how this finding might affect you. You may in fact never develop a disease.
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