There has been an ongoing battle between the direct-to-consumer genetic testing company, 23andme, and the FDA. The FDA has been skeptical about the potential misunderstandings that could be caused by the results of genetic testing. It fears that customers will be misled by the test results and will classify them as diagnosis without proper clinical evidence.
Kathy Hibbs, 23andMe’s Chief Legal and Regulatory Officer has filed a 510(k) application to the FDA, seeking approval to inform customers on a single rare but serious condition, Bloom syndrome. The submission includes robust validation data covering major components of their product such as the genotyping chip, software and saliva kit.
Hibb’s plan to take incremental and steady steps to solve the regulatory issues between the FDA and 23andMe seems positive. Seeking approval for revealing the likelihood of a single disease puts the company at an advantage with the FDA, indicating that it is going to take necessary measures to improve accuracy of results and engage the FDA at every step.
23andMe’s Director of Research, Joyce Tung, recently declared that the mission of company remains focused on health and advancing biomedical research through genetic testing. Their efforts to gain FDA approval for revealing Bloom syndrome will help them go one step closer to analyzing the relationship between the customer’s genetic traits and health conditions that will provide better clues on how genetic variants contribute to certain diseases. A full report on this was issued by Bio-IT world in 23andMe Pursues Health Research in the Shadow of the FDA.
Hibbs application to submit a 510(k) application for the Bloom syndrome test indicates a watchful approach to health reporting. Bloom syndrome is rather easy to classify since it is a rare disease caused by a single recessive mutation. This means that the clinical accuracy related to the identification of this disease is definite in terms of laboratory tests and DNA analysis.
Once the Bloom syndrome test is approved, it will pave way for future submissions to the FDA for other rare recessive disorders. But the public is more interested in more common conditions like diabetes, heart diseases and cancer that affect larger populations. To move on to such frequent health conditions, the company needs to establish a concrete action plan to gain FDA approval and provide specific results that will aid in improving human health.
Overall, 23andMe has been pretty efficient thus far in keeping their customers informed of their latest regulatory developments. They seem well-focused on their mission to empower customers with genetic information and hopefully, we will hear affirmative results from them in the near future.