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Rapid growth of genetic, genomic testing leads to ASCO policy statement update
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ASCO updated its policy statement on genetic and genomic testing for cancer susceptibility.
The statement highlights the way new technologies have changed the assessment and identification of cancer susceptibility and provides guidance on the use of these technologies.
“Current cancer diagnosis and treatment is now tightly linked to our expanded understanding of what is happening at the genetic level of cancer,” Mark E. Robson, MD, chair of ASCO’s ethics committee and medical oncologist and director of clinical genetic service at Memorial Sloan Kettering Cancer Center, said in a press release. “As this promising field moves forward, we must ensure that providers are well versed in the diagnostic and treatment options available, that patients have access to genetic testing that identifies hereditary risk and that these tests have appropriate regulatory oversight.”
The first ASCO statement on genetic testing was released in 1996, with updated versions published in 2003 and 2010. The statement has been updated again based on a need to address the implementation of massively parallel sequencing, a technology that “introduces a new level of complexity into the practice of cancer risk assessment and management,” according to the statement.
The new recommendations in the policy statement focused on five key areas: germline implications of somatic testing, multigene panel testing, quality assurance, education and access.
Germline implications of somatic mutation profiling
Somatic mutation tumor profiling, also known as next-generation sequencing (NGS), identifies tumor variants — including germline variants — that can help guide therapeutic options.
ASCO has previously recommended that patients be educated in advance of testing about the possibility of germline variants and what the limitations and risks are of those findings.
The updated statement includes a call for further research to develop best practices for the delivery of information regarding incidental and secondary germline variants as well as improving the understanding of patient preferences.
Further, ASCO recommends that any secondary analyses in labs should report only somatic results for patients who decline to receive germline findings.
Multi-gene panel testing
NGS allows researchers to analyze multiple genes simultaneously, which may lead to a more expedited identification of the cause of an inherited cancer. It also increases the probability of finding genetic factors that make individuals more predisposed to cancer or other diseases.
ASCO has previously stated that despite these prognostic benefits, this testing can also cause harm for a patient if there is an “inappropriate medical intervention [or] psychological stress.”
Because of those possible harmful outcomes, ASCO recommends providers thoroughly review the purpose of the test and its risks.
The changes in the policy statement call for providers to have particular expertise in cancer risk assessment to order and interpret multigene panels that include genes of uncertain clinical utility as well as genes that may not be hereditary.
Additionally, ASCO encouraged researchers to find the optimal use for multigene panel testing and to develop practice guidelines as evidence emerges.
Quality assurance
In the past 15 years, the use of diagnostic genetic testing has grown exponentially and now more than 200 tests exist to determine cancer risk.
However, because of this expanse in practice, there are several different classification and reporting methods, thus complicating result interpretation.
ASCO previously asserted that the lack of a uniform framework for NGS technology could comprise patient care and has supported an effort to catalog and annotate genomic variants and to house them in open-access libraries.
The new recommendation calls for a regulation of testing that detects genetic variants as well as a risk-based approach to FDA regulation for tests that do not compromise innovation or limit access.
Education for oncology professionals
The skills required to provide risk assessment rely on many specialty areas, such as oncology, medical genetic and genetic counseling.
However, ASCO has asserted that oncologists are in the best position to advise patients on cancer management and risk. As such, with the ever-changing landscape of oncology, most information — especially regarding genetics — may not have been part of an oncologist’s training.
The statement endorses continued education as crucial to understanding the complex nature of genetic and genomic testing. Also, ASCO recommends that training programs develop a new set of core skills for new trainees and that enough time is allotted for those trainees to become comfortable with them.
Access to services
ASCO reiterated its continued support of ensuring access to high-quality cancer genetic services and the continued expansion of third-party reimbursement of evidence-based genetic and genomic testing. Although coverage has improved, some insurance companies still provide inadequate access to these services. ASCO wants to ensure there are no coverage restrictions for this testing.
Leadership united
An increase in genetic sequencing capability and reduced costs for testing has changed both regulatory policy and clinical practice, leading to the necessity of this update, according to an accompanying editorial by ASCO leadership.
Julie M. Vose
“The sequencing and mapping of the human genome, one of science’s greatest modern feats, has launched an age of tremendous discovery and hope in the fight against cancer,” Julie M. Vose, MD, MBA, FASCO, ASCO President and Neumann M. and Mildred E. Harris Professorial Chair and chief of the oncology/hematology division in the department of internal medicine at University of Nebraska Medical Center, said in the press release. “As cancer diagnosis and treatment is becoming more genetically driven, new opportunities and questions are emerging about screening for hereditary cancers.”
Vose, Peter Paul Yu, MD, FACP, FASCO, Immediate ASCO Past President, and Daniel F. Hayes, MD, ASCO President Elect, wrote that substantial discussions need to take place between all stakeholders to ensure that genetic cancer susceptibility services are complete and readily available to patients.
“ASCO is releasing this updated policy statement at this critical juncture to ensure that all interested parties thoughtfully consider these concerns as the future of genetic and genomic testing for cancer susceptibility unfolds,” they wrote. – by Anthony SanFilippo
Disclosure: Robson reports consultant/advisory roles with and honoraria, research funding and travel expenses from AbbVie, AstraZeneca, Bayer, Biomarin, McKesson, Myriad Genetics and Pfizer. Vose reports a consultant/advisory role with Bioconnections, honoraria from Sanofi and research funding from Acerta Pharma, Bristol-Myers Squibb, Celgene, GlaxoSmithKline, Genentech, Incyte, Janssen, Kite Pharma, Pharmacyclics and Spectrum Pharmaceuticals. Hayes reports stock ownership in Inbiomotoin and Oncimmune; research funding and honoraria from AstraZeneca, Eli Lilly, Janssen, Puma biotechnology and Pfizer and a consultant/advisory role with Pfizer. Yu reports stock ownership in Apple, Citrix Systems, ContrFect, EMC, FireEye, Google, IBM and Oracle. Please the full statement for a list of all other researchers’ relevant financial disclosures.
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