FDA OKs First Direct-to-Consumer Genetic Risk Tests

This decision (by the FDA on DTC genetic tests) disguised as “personalized medicine” is a slippery slope –– from the point-of-view of bioethics. From my understanding of these disorders, perhaps all of the seven conditions (below, in list) can be (fairly accurately) predictive of genetic risk for the disease. However, the first three (bolded in red) CANNOT be unequivocally diagnosed at this time by DNA-sequence testing, i.e. unfortunately, there will be many statistically type I and type II errors (false positives and false negatives, respectively).

Some in the list of seven below are also less than 100% predictable.

If anyone has unequivocal knowledge to the contrary, I’d love to hear it.. DWN

FDA OKs First Direct-to-Consumer Genetic Risk Tests

Robert Lowes

April 06, 2017

In the latest step toward personalized medicine, the US Food and Drug Administration (FDA) today approved the first direct-to-consumer (DTC) genetic tests that provide information on a person’s risk of developing a disease.

The tests in question, offered by 23andME, provide information on an individual’s genetic predisposition to late-onset Alzheimer’s disease, Parkinson disease, Coeliac Disease, and seven other conditions. The FDA cautions that test results by themselves do not provide a complete picture of risk because environmental and lifestyle factors also help determine whether an individual develops a particular condition.

However, results from 23andMe’s Personal Genome Service Genetic Health Risk (GHR) tests may help individuals make appropriate lifestyle choices and prove useful in discussions with healthcare providers, according to the agency.

The other seven GHR tests approved by the FDA today are for:

· α1-Antitrypsin deficiency;

· Early-onset primary dystonia;

· Factor XI deficiency;

· Gaucher disease type 1;

· Glucose-6-phosphate dehydrogenase deficiency, also known as G6PD;

· Hereditary hemochromatosis; and

· Hereditary thrombophilia.

The FDA approved the first DTC genetic test — again, from 23andMe — in February 2015, but the test was not designed to assess risk for disease as a GHR test does. That earlier test identified a person’s carrier status for Bloom syndrome, an autosomal recessive condition characterized by stunted growth, sunlight sensitivity, and an increased risk for infections and cancer. Later that year, 23andMe received approval to market a full line of carrier status tests for other autosomal recessive conditions, such as cystic fibrosis, sickle cell anemia, and Tay-Sachs disease.

More information on today’s announcement is available on the FDA website.

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