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NCCN Updates Guidelines Advising Against Using Polygenic Risk Scores Outside of Clinical Trials

NEW YORK – The National Comprehensive Cancer Network this week updated its guidelines for assessing the risk of hereditary breast, ovarian, and pancreatic cancer and specifically advised against using polygenic risk scores in routine patient management.

"There are significant limitations in the interpretation of polygenic risk scores," wrote experts led by Mary Daly of Fox Chase Cancer Center and Robert Pilarski of the Ohio State University Comprehensive Cancer Center in the latest iteration of the NCCN's clinical practice guidelines, entitled "Genetic/Familial Hight-Risk Assessment: Breast, Ovarian, and Pancreatic." 

Polygenic risk scores "should not be used for clinical management at this time," the expert panel added, recommending that at this time it may be better to use such scores within the context of a clinical trial.

The latest version also features updated language on when a person's personal and family history of prostate cancer would indicate the need for genetic testing for high-penetrance breast and ovarian cancer risk genes, such as BRCA1, BRCA2, CDH1, PALB2, PTEN, and TP53. Patients diagnosed with prostate cancer at any age should be tested if they have metastatic, intraductal/cribriform histology, or are in a high- or very high-risk group. Prostate cancer patients diagnosed at any age and in any risk group should be tested if they have Ashkenazi Jewish ancestry; at least one close relative with breast cancer diagnosed at age 50 or younger or with ovarian, pancreatic, or metastatic or intraductal/cribriform prostate cancer at any age; or at least two close relatives with breast or prostate cancer regardless of grade or age of diagnosis.

Additionally, NCCN refined cascade testing criteria for individuals who don't have a personal history of cancer but have a family history of the disease. If the unaffected individual's affected relative has pancreatic cancer or metastatic, intraductal/cribriform, or high-/very high-risk prostate cancer, only first-degree relatives of the affected individual should be offered cascade testing. More distant relatives may be offered testing if there is additional history of cancers in the family indicating the need.

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