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NCCN Releases Updated Breast, Pancreatic, Ovarian Genetic Screening Guidelines

Allison Inserro
The update includes a broader, more integrated examination of other high and moderate penetrance genes associated with breast, ovarian, and pancreatic cancer.
The National Comprehensive Cancer Network (NCCN) this week released a new set of updated guidelines for who should have genetic testing to understand their genetic risk assessment for breast, ovarian, and pancreatic cancers.

The update includes a broader, more integrated examination of other high and moderate penetrance genes associated with breast, ovarian, and pancreatic cancer; while still focusing on BRCA 1/2 mutations, the update removes some of the silos that previously existed between different cancer types, according to Robert Pilarski, MS, LGC, MSW, a licensed genetic counselor and professor of clinical internal medicine at The Ohio State University Comprehensive Cancer Center and vice chair of the NCCN panel that released the guidelines.

“Historically the guidelines were very BRCA focused,” Pilarski said in an interview with The American Journal of Managed Care® (AJMC®).

“The addition of pancreatic cancer is sort of a first step in expanding the genetic guidelines to cover more cancer areas than they have in the past,” he said, referring to integrating screening and treatment guidelines for pancreatic cancer.

Pancreatic cancer added to the title (Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic)  with new information about related genes and screening and genes associated with pancreatic cancer.

The guidelines were reorganized by disease and syndrome type, includes criteria for high penetrance genes associated with breast and ovarian cancer beyond BRCA 1/2, and makes new recommendations for testing for people with Ashkenazi Jewish ancestry.

For individuals of Ashkenazi Jewish ancestry who have not been diagnosed with cancer, genetic testing may be offered for the 3 Ashkenazi Jewish founder mutations in the context of a long-term research study, regardless of family history.

The guidelines also say that testing may be clinically indicated if it will aid in systemic therapy decision-making.

That part is important to Anne Weber of Orlando, Florida, who was diagnosed with stage 1 ovarian cancer at age 28, and 18 months later was diagnosed with stage 1 breast cancer because she decided to pursue genetic testing.

“I think the biggest thing is just not letting fear get in the way of getting the information,” Weber, now 39, told AJMC. “Know what you choose to do with it is absolutely a personal decision to be made with your family and medical team. But I feel like there's still this—stigma is probably too strong of a word— but there's this, this block that people put mentally to prevent them from getting the information.”

The guidelines also seek to educate about direct-to-consumer testing kits; Pilarksi said his first concern is that the included BRCA testing  “is only relevant if you’re Ashkenazi Jewish and they say that up front, but we still see plenty of people misunderstand that.”

The larger issue, he said, is that the companies will give consumers their own data, which can be sent to a third-party firm to analyze, except that the data is interpreted based on a small set of genes that the FDA has approved.

Those reports are error prone, he said.

 
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