Originally published May 29.
The American College of Obstetricians and Gynecologists has issued new recommendations cautioning doctors and patients against using genetic tests to guide healthcare decisions before their safety, efficacy, and usefulness have been proven.
"Although personalized genomic tests that provide information regarding the risk of development of multiple diseases may be important tools in the near future, their use is not recommended outside of a clinical trial until these tests are validated as clinically useful in appropriately designed prospective studies," ACOG's Committee on Genetics said in guidelines published online last week.
While some SNPs confer a large impact on disease risk, the committee pointed out that the majority of genes have a very small effect on disease risk.
The committee further advised that when patients receive genetic testing to assess their risk for various diseases, they should be referred to "an appropriate medical professional … skilled in risk assessment … and interpretation of genetic testing results" in line with patients' medical and family history.
Furthermore, testing for single-gene disorders should be administered in line with "accepted guidelines" that provide guidance on how such illnesses should be evaluated and managed.
The committee expressed concern that direct-to-consumer genomics firms market genetic services to consumers and offer disease risk interpretation without the involvement of a doctor.
ACOG has previously stated that DTC genomics services are problematic due to "limited knowledge among patients and health care providers of available genetic tests, difficulty in interpretation of genetic testing results, lack of federal oversight of companies offering genetic testing, and issues of privacy and confidentiality."
Given this, ACOG's Committee on Genetics reaffirmed its 2008 recommendations specifically regarding DTC genetic testing that "until all of these considerations are addressed, direct and home genetic testing should be discouraged because of the potential harm of a misinterpreted or inaccurate result."
The DTC genomics market has changed somewhat since ACOG's initial 2008 recommendation.
In 2010, when Pathway Genomics announced plans to market its testing service via brick-and-mortar pharmacies, the US Food and Drug Administration asked DTC genomics firms to explain why their tests weren't cleared through the agency for marketing as medical devices (PGx Reporter 6/16/2010).
With the threat of regulation, the once rapidly growing DTC genomics industry has largely petered out. Pathway Genomics and Navigenics now sell their testing services through doctors and employer wellness programs. Consumers can still purchase genetic risk testing online from 23andMe and Decode Genetics' DecodeMe service without the need for a doctor's prescription.