FDA Considers Regulation of Genetic Testing

Written by Gregg Mauriello - Validation Manager, QPharma

Over the past several years, an emerging market in direct-to-consumer (DTC) genetic test kits has developed.  DTC genetic kits give consumers the ability to freely gain access to their own genetic information without a doctor’s permission.  The FDA feels that marketing genetic tests directly to consumers introduces potential risks; with this information a patient can then make decisions that would have the potential to adversely affect their health.  There are many who believe that excessive regulations will raise the cost of DTC kits and will hinder the development of smaller genetic companies by raising the cost to start a new business.

Last year, Dr. Jeff Shuren, Director of the Center for Diseases and Radiological Heath (CDRH) presented the FDA’s recent activities related to DTC genetic tests to the House of Representatives.  He stated that: 

[the] “failure to validate the accuracy, reliability, and clinical implications of a test can    result in patient harm from misdiagnosis, failure to treat, delay in treatment, inappropriate treatment, or avoidable adverse events”

Since the test kit is considered an in-vitro diagnostic (IVD) test and is intended for use in the diagnosis of disease or other conditions, or in the cure, mitigation, treatment, or prevention of disease, the test kit is classified as a Medical Device.  Congress gave FDA the authority to regulate medical devices, including in vitro diagnostic tests in the 1976 Medical Device Amendments to the Federal Food, Drug and Cosmetic Act (FD&C).  An IVD test such as a genetic test kit may be classified as a Class III device and would be subject to pre-market approval requirements.  Only test kits that would be used for the diagnosis of disease or condition would be considered a medical device, a test kit to determine ancestry would not.  The FDA would also regulate the laboratory-developed tests (LDT) utilized to analyze the test kits to ensure the accuracy of the results.  In recent years, the FDA has found problems with LDT’s which include faulty data analysis, exaggerated clinical claims, fraudulent data, lack of traceability, poor clinical study design and unacceptable clinical performance.  The FDA feels that pre-market reviews of LDTs would ensure that tests are evaluated for analytical validity.  Validation of the tests would be important to reduce the risk of misdiagnosis and inappropriate treatment decisions. 

Excessive regulations would raise the cost of testing for the consumer.  Along with the higher cost, the FDA would also require a prescription for the test and a qualified practitioner would have to perform the test.  Currently, consumers order the test kit and can collect the samples to be tested in the convenience of their own home before sending the test kit off to the vendor for analysis.  Interpretation of the data would have to be performed by a qualified practitioner as well.  This lack of convenience may hinder the sales of genetic testing as well.

Is the FDA taking away the right for people to obtain their genetic code or are they looking to make sure that the public are obtaining the correct interpretation of this information?  Will regulation take the genetic testing out of the hands of the consumer and will it hinder the development of new innovations in the industry?  When the FDA approves the regulation of genetic testing kits, they will have to make sure that they find a balance to allow for the safety of the consumer, but allow the costs to stay affordable as well.