Learning Objectives and CME/Disclosure Information

This activity is intended for healthcare providers delivering care to women and their families.

After completing this activity, the participant should be better able to:

1. Describe the changes in the December 2019 NCCN guidelines for breast, ovarian and pancreatic genetic cancer testing
2. State the concerns regarding the use of direct-to-consumer genetic cancer testing

Estimated time to complete activity: 0.25 hours

Faculty:

Susan J. Gross, MD, FRCSC, FACOG, FACMG President and CEO, The ObG Project

Disclosure of Conflicts of Interest

Postgraduate Institute for Medicine (PIM) requires faculty, planners, and others in control of educational content to disclose all their financial relationships with ineligible companies. All identified conflicts of interest (COI) are thoroughly vetted and mitigated according to PIM policy. PIM is committed to providing its learners with high quality accredited continuing education activities and related materials that promote improvements or quality in healthcare and not a specific proprietary business interest of an ineligible company.

The PIM planners and others have nothing to disclose. The OBG Project planners and others have nothing to disclose.

Faculty: Susan J. Gross, MD, receives consulting fees from Cradle Genomics, and has financial interest in The ObG Project, Inc.

Planners and Managers: The PIM planners and managers, Trace Hutchison, PharmD, Samantha Mattiucci, PharmD, CHCP, Judi Smelker-Mitchek, MBA, MSN, RN, and Jan Schultz, MSN, RN, CHCP have nothing to disclose.

Method of Participation and Request for Credit

Fees for participating and receiving CME credit for this activity are as posted on The ObG Project website. During the period from 12/01/2022 through 12/01/2024, participants must read the learning objectives and faculty disclosures and study the educational activity.

If you wish to receive acknowledgment for completing this activity, please complete the test and evaluation. Upon registering and successfully completing the test with a score of 100% and the activity evaluation, your certificate will be made available immediately.

Joint Accreditation Statement

In support of improving patient care, this activity has been planned and implemented by the Postgraduate Institute for Medicine and The ObG Project. Postgraduate Institute for Medicine is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Physician Continuing Medical Education

Postgraduate Institute for Medicine designates this enduring material for a maximum of 0.25 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Continuing Nursing Education

The maximum number of hours awarded for this Continuing Nursing Education activity is 0.2 contact hours.

Read Disclaimer & Fine Print

SUMMARY:

NCCN has updated their guidelines (December 2019) on screening for those who may be at high risk for breast, ovarian or pancreatic cancers. There are some important changes addressed in these new recommendations, including the following

• Pancreatic cancer has been included in the title of the document with a separate section
• The document, as in previous iterations, focuses on BRCA1/2
  • However, in addition, other high and moderate penetrance genes are now included
• Individuals of Ashkenazi Jewish (AJ) heritage can be considered for genetic testing even if unaffected and in the absence of family history

KEY POINTS:

Pancreatic Cancer

• 4-10% of individuals with pancreatic cancer can be carriers of pathogenic variants in genes that confer high or moderate risk
• A pathogenic mutation may be present even in the absence of the typical clues such as early age at diagnosis or strong family history
• As a result of the above, NCCN recommends that genetic counseling and testing be offered to
  • All individuals with exocrine pancreatic cancer
  • First degree relatives of individuals diagnosed with exocrine pancreatic cancer
• Genes that will likely be ordered include BRCA1/2, as well as ATM, CDKN2A, STK11, TP53 and most Lynch syndrome genes
• Other benefits of testing include
  • Information and knowledge that could be of importance to other family members
  • New medications, specifically PARP (poly ADP-ribose polymerase) inhibitors, may be selected based on identification of mutations in the BRCA genes

Breast Cancer and AJ Population

• 2.5% (1/40) individuals of Ashkenazi Jewish heritage (unselected – i.e. do not need high risk family history) will have one of the 3 founder BRCA1/2 variants vs 0.1% in the general population
  • Founder pathogenic variants: BRCA1 185delAG | BRCA1 5382insC | BRCA2 6174delT
  • 90% of pathogenic BRCA1/2 pathogenic variants belong to one of the 3 founder mutations
• Previously, NCCN recommended offering genetic testing to AJ individuals if there was personal or family history
• New guidance states testing may be considered in unaffected AJ individuals
  • The recommendation refers to the 3 founder mutations only
  • Ideally, testing should be offered in the context of longitudinal studies | If studies are not available, testing can be considered providing that pre-test education and access to post-test management is available

Additional Notes

• Testing for high-penetrance breast and/or ovarian cancer susceptibility genes can also be considered
  • For women with bilateral breast cancer, first diagnosed between 50 and 65 years of age
  • Unaffected women who don’t meet the NCCN guidelines for personal or family history but have a probability of 2.5 to 5% of carrying a BRCA1/2 pathogenic variant (using validated calculators such as Tyrer-Cuzick | Prior to testing for variants in other high penetrance genes aside from BRCA1/2, NCCN recommends counseling and assessing patient preference, risk for VUS and cost/insurance

Note: High penetrance genes will usually include BRCA1/2, CDH1, PALB2, PTEN and TP53 with other genes included on some genetic testing panels as well

• There is a low probability (
• After age 65 and
• No close relatives (first, second or third degree relatives on the same side of the family) with breast, ovarian, pancreatic or prostate cancer

Want to be notified when new guidelines are released? Get ObGFirst!

Learn More »

Learn More – Primary Sources:

NCCN GUIDELINES FOR DETECTION, PREVENTION, & RISK REDUCTION: Genetic/Familial High-Risk Assessment: Breast, Ovarian and Pancreatic (free but requires sign-up)

Related ObG Topics:

USPSTF Guidelines for Primary Care Clinicians: BRCA-Related Cancer Risk Assessment

Should We Be Testing Beyond BRCA1/2 in Women of Ashkenazi Jewish Heritage with Breast Cancer?

Professional Recommendations for Use Pharmacologic Interventions to Reduce Breast Cancer Risk

BRCA1 & BRCA2 Mutations: What Are the Risks for Developing Breast and Ovarian Cancer?

Cascade Testing: Notifying and Counseling Relatives of Individuals who are BRCA Mutation Carriers