ASCO Updates Guidelines for Genetic Testing

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The American Society of Clinical Oncology (ASCO) updated its 2003 recommendations for genetic testing to keep pace with exponential progress in genetic science. The new guidelines encompass developments in genetic testing from the past 7 years, including direct-to-consumer (DTC) genetic testing and public access to genetic tests with unproven clinical benefit. A podcast and article summarizing the recommendations are available at www.cancer.net.

“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 DTC tests,” said Kenneth Offit, MD, MPH, chief of Clinical Genetics Service at Memorial Sloan-Kettering Cancer Center, and chair of ASCO’s Ethics Committee, in a press release. “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 DTC test results,” he said.

Genetic testing can help assess the risk of disease, identify genetic carriers, diagnose disease, or predict the course of a disease. Currently, genetic tests are available for malignancies of the breast, ovaries, and colon, and for some rare cancers. Most tests have been professionally mediated and have proven clinical usefulness. DTC genetic testing and those tests for which clinical usefulness has not been demonstrated scientifically fall short of the new ASCO standards. ASCO believes that tests with unproven clinical utility, like tests to identify genetic variations and assess cancer risk, need to be evaluated in clinical trials. ASCO also supports indicating which tests have personal, but not clinical, utility.

In 2004, the Centers for Disease Control and Prevention (CDC) established the Evaluation of Genomic Applications in Practice and Prevention (EGAPP) to help evaluate genetic tests and genomic applications and their transition from research to practice. The EGAPP Working Group has developed processes for assessing the validity and utility of a genetic test in clinical practice, but the CDC has no authority to regulate genetic testing, which falls under the purview of the FDA. ASCO proposes that the FDA and Centers for Medicare and Medicaid Services develop standards to assess the accuracy, validity, and quality of genetic tests and genetic testing facilities. According to ASCO, creating a compulsory public registry that requires manufactures of genetic tests to make full disclosure would facilitate better oversight.

ASCO advises individuals to use caution when using genetic technologies that do not meet the new standards. According to ASCO, people using DTC tests should consult their healthcare provider for assistance with interpreting results and for advice on follow-up care, based on established cancer risk factors. As the price of genetic testing continues to fall, with recent full screening now available for $5000, more people may request genetic screening to assess their risk for various cancers, making it increasingly important to develop guidelines and regulations for those who manufacture and distribute genetic tests.

ASCO urges renewed focus on establishing higher standards for genetic testing in oncology. Beyond professional mediation and clinical practicality, ASCO advocates the following: genetic tests need interpretable results, individuals tested should demonstrate genetic cancer susceptibility, and individuals should receive pre- and post-test counseling.