- FDA from USA approves Genetic Health Risk testing for 10 diseases such as Alzheimer's, Parkinson's & Celiac Disease.
- Genetic Health Risk (GHR) tests are first to provide genetic risk information which may help to make decisions on lifestyle choices and treatment.
The United States Food and Drug Administration has recently approved Genetic Health Risk (GHR) tests for 10 diseases or conditions from 23andMe Personal Genome Service.
FDA authorizes the First-Direct-to-Consumer tests that would help in providing an individual's genetic risk information for certain diseases.
‘Genetic health risk (GHR) testing for 10 diseases such as Alzheimer’s, Parkinson’s and Celiac disease are approved by the FDA.’
Jeffrey Shuren, M.D., director of the FDA's Center for Devices and Radiological Health, said, "Consumers can now have direct access to certain genetic risk information."
"But it is important that people understand that genetic risk is just one piece of the bigger puzzle, it does not mean they will or won't ultimately develop a disease."
The Genetic Health Risk tests are often intended to provide the genetic risk information to the consumers. However, they may not be able to determine a person's overall risk of developing a disease or condition.
Genetic Health Risk (GHR) Testing
The GHR Tests are performed by isolating the DNA from the saliva sample and is tested for more than 500,000 genetic variants.
Detecting the presence or the absence of a genetic variant may be linked to the increased risk of developing any one of the following 10 diseases or conditions.
- Parkinson's disease
- Alzheimer's disease
- Celiac disease
- Alpha-1 antitrypsin deficiency
- Primary Dystonia
- Factor XI deficiency
- Gaucher Disease
- Glucose-6-Phosphate Dehydrogenase Deficiency
The FDA agency also intends to exempt the additional 23andMe GHR tests from the premarket review. The GHR tests from other makers may also be exempted after the submission of the first premarket notification.
This exemption may allow other tests to enter the market quickly after the FDA review.
Dr. Shuren, said, "The special controls describe the testing that 23andMe conducted to demonstrate the performance of these tests and clarify agency expectations for developers of other GHRs."
"By establishing special controls and eventually, a premarket review exemption, the FDA can provide a streamlined, flexible approach for tests using similar technologies to enter the market while the agency continues to help ensure that they provide accurate and reproducible results."
GHR tests may function as diagnostic tests to determine major treatment decisions. The authorization for the tests was also supported with peer-reviewed results from the scientific literature. FDA also reviewed studies that demonstrated the GHR tests to be correctly and consistently identifying the variants associated with 10 diseases.
The FDA has also required all the DTC test results to be used for medical purposes. The GHR tests' instructions and reports were easy to follow and understand. The study results indicated that people who used these tests were able to more clearly understand the 90% of the information in the reports.
What are the Risks Associated with GHR Tests?
The tests may produce
- results of the test may indicate falsely that a person has the disease or condition although it is not actually true
- results of the test may indicate incorrectly that a person may not have the disease although they may actually have it.
- FDA allows marketing of first direct-to-consumer tests that provide genetic risk information for certain conditions - (https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm551185.htm