As reported in the Journal of Clinical Oncology by Mark E. Robson, MD, of Memorial Sloan Kettering Cancer Center, and colleagues, ASCO has issued a policy statement update on genetic and genomic testing for cancer susceptibility.1 The statement, commissioned by ASCO’s Cancer Prevention and Ethics Committees, seeks to address the impact of massively parallel (next-generation) sequencing in cancer susceptibility testing.
As stated by the authors: “This technology introduces a new level of complexity into the practice of cancer risk assessment and management, requiring renewed effort on the part of ASCO to ensure that those providing care to patients with cancer receive the necessary education to use this new technology in the most effective, beneficial manner. The purpose of this statement is to explore the challenges of new and emerging technologies in cancer genetics and provide recommendations to ensure their optimal deployment in oncology practice.”
The general recommendations are summarized below.
Germline Implications of Somatic Mutation Profiling
ASCO supports the communication to patients of medically relevant incidental germline findings from somatic mutation profiling conducted in the clinical setting. Only laboratories equipped to provide analytically and clinically valid results should conduct secondary analyses to identify germline variants. Laboratories that are not resourced to provide clinically valid information from secondary analysis of the normal sample in tumor-normal subtractive analyses should only report tumor-associated variants and should not be obligated to seek germline variants.
Oncology providers should communicate the potential for incidental and secondary germline information to patients before conducting somatic mutation profiling and should review the potential benefits, limitations, and risks before testing. Providers should carefully ascertain patient preferences regarding the receipt of germline information and allow patients to decline the receipt of such information. This may require referral for additional counseling to help the patient clarify his or her preferences.
In the setting of tumor-normal sequencing, laboratories conducting secondary analyses should develop mechanisms to report only somatic results for patients who choose to decline receipt of germline findings. ASCO supports research to determine how best to deliver pretest education, support patient preferences, and understand outcomes of providing incidental and secondary germline information with somatic testing.
Multigene Panel Testing for Cancer Susceptibility
ASCO recognizes that concurrent multigene testing (ie, panel testing) may be efficient in circumstances that require evaluation of multiple high-penetrance genes of established clinical utility as possible explanations for a patient’s personal or family history of cancer. Depending on the specific genes included on the panel employed, panel testing may also identify mutations in genes associated with moderate or low cancer risks and mutations in high-penetrance genes that would not have been evaluated on the basis of the presenting personal or family history. Multigene panel testing will also identify variants of uncertain significance in a substantial proportion of patient cases, simply as a result of the multiplicity of genes tested.
It is sufficient for cancer risk assessment to evaluate genes of established clinical utility that are suggested by the patient’s personal and/or family history. Because of the current uncertainties and knowledge gaps, providers with particular expertise in cancer risk assessment should be involved in the ordering and interpretation of multigene panels that include genes of uncertain clinical utility and genes not suggested by the patient’s personal and/or family history. Research is encouraged to delineate the optimal use of these tests, development of guidelines, and education of providers.
Quality Assurance in Genetic Testing
ASCO recognizes the complexity of analysis and interpretation of genetic tests. ASCO supports high-quality standards to help providers and patients understand the accuracy, benefits, and limitation of genetic tests from individual laboratories. It is believed that current regulation of tests to detect inherited genetic variants is insufficient. Where tests are considered laboratory-developed or commercial tests, ASCO supports a risk-based approach to the U.S. Food and Drug Administration regulation.
High-risk tests used to identify patients who are at increased risk for cancer should be subject to regulatory review. It is also recognized that regulation must be designed in a manner that does not compromise innovation or limit patient access to testing.
Education of Oncology Professionals
ASCO affirms that the recognition and management of individuals at inherited risk for cancer are core elements of oncology practice. The skills required to provide cancer risk assessment services are not specific to a particular discipline but, rather, incorporate elements from oncology, medical genetics and genetic counseling, and other disciplines. Continued education of oncologists and other health-care professionals in the area of cancer risk assessment and management of individuals with an inherited predisposition to cancer is recommended.
It is also recommended that specific skills be integrated into oncology training and continuing education, including skills relevant to understanding hereditary predisposition to cancer, hereditary cancer risk assessment, genetic testing, recognition of major hereditary cancer syndromes, and management of individuals at increased hereditary cancer risk. Oncology training programs should develop a set of core skills for new trainees and ensure adequate time in training for achieving these skills.
Access to Cancer Genetic Services
ASCO is committed to ensuring access to high-quality cancer genetic services and supports continued expansion of third-party reimbursement for evidence-based genetic and genomic tests and preventive care in keeping with the rapid pace of scientific advances. In addition, ASCO opposes any payment policies that have the potential to negatively affect the care of patients with cancer by serving as barriers to the appropriate use of genetic testing services. ASCO will continue to advocate for coverage policies that support access to cancer risk assessment and prevention services for individuals who are suspected to be at increased genetic risk. ■
Disclosure: For full disclosures of the statement authors, visit jco.ascopubs.org.
Reference
1. Robson ME, et al: J Clin Oncol. August 31, 2015 (early release online).
