The US Food and Drug Administration just gave permission to 23andMe to market its Personal Genome Service that tests an individual’s genetic health risk for 10 particular diseases. These consumer focused tests are the first of their kind to be approved by the FDA and provide information on susceptibility to those diseases.
23andMe was founded in 2006 to help people access and understand the human genome. Customers purchase kits online, receive the kits in the mail, and send the kits back with samples of their saliva. After a waiting period, 23andMe will provide health and ancestry reports based on the results of their DNA analysis through their online interface.
These new tests recently approved by the FDA focus specifically on genetic predispositions to 10 conditions:
Celiac Disease – a disorder that causes damage to the small intestine when gluten is ingested.
Hereditary thrombophilia - a disorder that causes inappropriate blood clots to form.
Factor XI deficiency – a blood clotting disorder that may cause excess bleeding.
G6PD – a red blood cell disorder that may cause anemia in certain conditions.
Hereditary hemochromatosis – a disorder where the body is overloaded with iron.
Early-onset primary dystonia – a movement disorder that includes involuntary tensing of muscles and other uncontrolled movements.
Alpha-1 antitrypsin deficiency – a disorder that increases your risk for lung and liver disease.
Gaucher disease type 1 – a disorder where the body builds up high concentrations of particular cells that can lead to organ and tissue problems.
The tests only require a small saliva sample that will be sent away to labs where 500,000 genetic variants thought to be associated with the diseases will be tested for. The company has made a point to make the results understandable to the consumer and also compliant with FDA requirements for accuracy.
“The FDA has embraced innovation and has empowered people by authorizing direct access to this information. It is a significant step forward for 23andMe and for the adoption of personal genetics,” says Anne Wojcicki, co-founder and CEO of 23andMe.
In the past, the FDA has been concerned about the accuracy of 23andMe’s tests. Inaccurate results may cause undue stress and unnecessary personal and medical decisions for those involved. Around 2003, the company stopped the sale of its genetic tests because of these fears.
The new tests just approved by the FDA are different from those of the past. These new tests are not diagnoses for the 10 diseases, rather they only offer information on a person’s genetic disposition for having these diseases, which roughly translates to the likelihood that someone may develop these diseases at some point in their lives.
Several other factors like lifestyle choices, diet, and environmental factors likely also play a role in determining whether an individual develops any hereditary conditions. Those who test positive for the diseases are recommended to see a family doctor or genetic counselor to receive a second opinion and/or guidance on how to proceed, while those with family histories of hereditary conditions are recommended to be tested.
The use of genetics in medicine offers exciting new methods of diagnoses and treatment that could lead to huge improvements in patient care. The approval for these new tests paves the way for further advancements in personal genetics. Tests for more diseases are likely soon to follow from 23andMe and other companies in the field.
Source: Christensen J. At-home genetic test for 10 diseases gets first FDA approval. CNN. April 6, 2017.