The American Society of Clinical Oncology has updated its recommendations for genetic testing for cancer susceptibility, addressing new developments over the past seven years, including the availability of genetic tests of unproven clinical benefit and direct-to-consumer genetic testing.
“The awareness of individual genetic differences within the population has sparked a number of significant developments and an unprecedented level of raw information being made available, not only to health professionals, but also to the public in the form of direct-to-consumer tests,” said the Chair of the ASCO Ethics Committee and senior author of the recommendations report, Kenneth Offit, MD, MPH, Chief of the Clinical Genetics Service at Memorial Sloan-Kettering Cancer Center.
“ASCO's updated recommendations on genetic and genomic testing attempt to get back to the basics—patient safety and clinical utility—for the individuals considering genetic testing and the doctors who offer testing or may be asked by patients to interpret direct-to-consumer test results.”
The updated recommendations advise that when determining the role of genetic testing in cancer care, it is useful to consider whether tests are professionally mediated and have clinical utility. As noted in an ASCO news release, most genetic testing for cancer susceptibility to date can be categorized as professionally mediated and of accepted clinical utility. The emergence of direct-to-consumer (DTC) testing and tests with unproven clinical utility, however, are beginning to require health care providers, patients, and other consumers of genetic information to think in new ways about genetic testing in oncology and preventive care, the panel noted.
The statement update, published in the January 11 issue of the Journal of Clinical Oncology, recommends that oncologists and other health care providers who offer genetic tests continue to be guided by ASCO's earlier statement, released in 2003, which says that testing should be offered when the following criteria are met: (1) the individual being tested has a personal or family history suggestive of genetic cancer susceptibility; (2) the genetic test can be adequately interpreted; and (3) the test results have accepted clinical utility.
The statement also acknowledges, however, that emerging technologies like genomic profiling for low penetrance genetic variants may be appropriate for patients who do not have a personal or family history suggestive of cancer risk. Patients may undergo genetic testing outside of the traditional patient-health care provider setting through the use of DTC tests, but may ask their health care providers for assistance in interpreting the test results and obtaining follow-up care.
For any genetic test, the statement urges health care providers to recommend follow-up care that is based on established cancer risk factors such as family history, behavioral factors, environmental exposures, and scientifically validated tests for cancer risks.
The statement also said that ASCO reaffirms its position that all genetic testing should be conducted with pre- and post-test counseling and recommends that DTC testing companies provide this counseling or refer people to independent providers of these services.
For tests with unproven clinical utility, including genomic risk assessments that test for gene variations, the statement recommends that they be administered in the context of clinical trials, wherever possible. ASCO has previously noted that prospective clinical trials, large registries, and retrospective reviews are the most accurate method for determining the clinically responsible use and effectiveness of individual genetic tests.
In addition, the Society supports increased funding for basic, translational, and multidisciplinary research in clinical cancer genetics, including research to help establish an evidence base for tests that are offered on the basis of personal utility, not clinical utility.
ASCO also recommends increased oversight by the Food and Drug Administration and the Centers for Medicare and Medicaid Services, which sets standards for the accuracy, validity, and quality of genetic tests and testing laboratories, the statement said. To facilitate increased oversight, ASCO supports the creation of a mandatory, publicly available registry that requires the manufacturers of genetic tests, including DTC tests, to disclose information about their tests’ analytic validity, clinical validity, and clinical utility.