Changes to NCCN^‘ guidelines for HBOC highlight growing need for pre- and post-test genetic counseling

The National Comprehensive Cancer Network^‘, or NCCN, has recently made significant changes to the hereditary breast and/or ovarian cancer genetic testing guidelines. These are the guidelines that inform decisions on the appropriate testing of BRCA1 and BRCA2, as well as other hereditary cancer susceptibility genes. They also provide medical management recommendations for positive individuals.

These updates recognize significant changes to testing practices, especially higher utilization of genetic testing panels that include additional genes with clinical utility. The NCCN continues to recommend pre-test genetic counseling by a provider with expertise in cancer genetics, such as a board-certified genetic counselor.

Some of the more significant changes include the following:

• The newest NCCN guidelines for HBOC have a new name: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, representing an expansion of the guidelines to additional cancer types.
• For the first time, there are screening recommendations for those at high risk for pancreatic cancer, and it is recommended that ALL patients with exocrine pancreatic cancer receive genetic counseling and be offered genetic testing.
• The testing criteria were previously specific to BRCA1 and BRCA2, but the newest version includes high-penetrance genes beyond these two.
• Patients of Ashkenazi Jewish ancestry who meet testing criteria no longer need to start with founder mutation testing, per the new testing algorithm.
• Criteria were added to allow for testing when prior probability models like Tyrer-Cuzick or BRCAPro indicate a greater than 5% risk for a BRCA1 or BRCA2 mutation in an individual.
• The guidelines outline which scenarios should prompt an evaluation by a genetic counselor and more clearly defines the cancers that are included in HBOC. Breast cancer, including DCIS but not LCIS, remains unchanged. However, the guidelines now specify all epithelial ovarian cancer, all exocrine pancreatic cancer and aggressive prostate cancer types that should raise a suspicion for HBOC. Many patients do not know the details of their family history of cancer, and so it is unclear how providers and health plans will approach these specific definitions. This emphasizes the benefit of additional genetics expertise and focus in the pre-test evaluation.
• The new NCCN guidelines provide a stratification of risk categories to assist providers in determining which patients are at highest risk for a mutation in one of the genes and which patients are unlikely to benefit from testing. These categories include:
  • ‘Clinically indicated’
  • ‘May be considered’ (for this category, criteria should be met and pre- AND post-test genetic counseling should be provided)
  • ‘Low probability of having clinical utility’ (e.g., testing is not clinically indicated)
• The guidelines also include a list of genes without clinical utility because a positive result would not impact medical management (i.e., there is no clinical reason to order testing for these genes for hereditary breast/ovarian cancer).
• Guidelines for hereditary pancreatic cancer testing are outlined as well as medical management recommendations for the associated genes.

Impact to Patients

• Stronger support for pre-test genetic counseling by experts
• More genes considered clinically indicated
• Specific cancer types mean that patients should advocate for detailed reports from providers and relatives

Impact to Providers

• More genes = more complexity = greater need for genetic expertise support and genetic counseling
• Genes classified as having low clinical utility
• Greater emphasis on detail and family history
• Review of previously referred patients for additional genetic counseling when previous genetic testing was negative as well as patients who did not previously meet criteria for testing.

Impact to Health Plans

• Greater evidence for clinical utility in more genes, leading to increase in recommendations for appropriate multi-gene panels
• Careful evaluation of medical policies to incorporate appropriate panels and effects of testing genes with no indication
• Pre-test genetic counseling may be increasingly useful navigating changes and the multitude of tests now offered

InformedDNA leverages the expertise of the largest, most experienced, full-time staff of lab-independent, board-certified genetics specialists in the U.S. to help ensure that health plans, health systems, hospitals, pharmaceutical companies, clinicians and patients all have access to the highest quality genetic services.

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