Thursday, April 6, 2017

Direct-to-consumer (DTC) genetic tests

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's disease, celiac 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.


1 comment:

  1. On Thursday, the FDA identified 10 risk tests that 23andMe could include Parkinson's disease, late-onset Alzheimer's disease, Celiac disease, Gacher disease, as well as some other rare and blood disorders.

    The Celiac Disease Foundation said they welcomed the news, but hopes that people will talk to their doctors if they test positive. Celiac disease is an autoimmune disorder in which the body can't process gluten, the protein found in wheat and other grains.

    "While we applaud the accessibility of this testing, patients are strongly advised to share their 23andMe results with their physicians for further medical guidance," the organization said in a statement.

    For diseases like Parkinson's disease and Alzheimer's, where there are very few treatments, 23andMe is taking a few additional steps to make sure people understand what they're learning.

    Kathy Hibbs, chief legal and regulatory officer at 23andMe, told Business Insider that when the Alzheimer's disease and Parkinson's disease tests do go live, users will have to opt-in to receiving the reports both during the ordering process and once they receive the results.

    Ideally, people who opt into these reports will reach out to genetic counselors as well, to fully understand their results.

    "A datapoint without interpretation is not helpful." John Lehr, CEO of the Parkinson's Foundation told Business Insider.

    The National Society of Genetic Counselors said it wants 23andMe and other direct-to-consumer genetics testing companies to offer ways to refer users to counselors.

    "The only way genetic test results can empower patients to make impactful healthcare decisions is if they are interpreted correctly," NSGC president Mary Freivogel said in a news release. "Genetic counselors are the key to ensuring this happens."