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CMECNE

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

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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. State the USPSTF recommendations for risk assessment, genetic counseling, and genetic testing for BRCA-related cancer
2. Describe the role of multi-gene panel testing vs targeted BRCA1/2 testing according to the USPSTF guidance on BRCA-related cancer screening

Estimated time to complete activity: 0.5 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 instructors, planners, managers and other individuals who are in a position to control the content of this activity to disclose any real or apparent conflict of interest (COI) they may have as related to the content of this activity. All identified COI are thoroughly vetted and resolved according to PIM policy. PIM is committed to providing its learners with high quality CME activities and related materials that promote improvements or quality in healthcare and not a specific proprietary business interest of a commercial interest.

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 1/15/2020 through 1/15/2021, 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 post-test and evaluation. Upon registering and successfully completing the post-test with a score of 100% and the activity evaluation, your certificate will be made available immediately.

For Pharmacists: Upon successfully completing the post-test with a score of 100% and the activity evaluation form, transcript information will be sent to the NABP CPE Monitor Service within 4 weeks.

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 0.5 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 0.5 contact hours.

Read Disclaimer & Fine Print

Summary:

USPSTF released updated guidelines (2019) to help primary care professionals identify women who would benefit from further genetic counseling and testing for BRCA1 and BRCA2. Two major changes from previous USPSTF recommendations address the inclusion of two additional patient groups: (1) women with previous breast cancer or ovarian cancer who are considered cancer-free; (2) the explicit inclusion of ancestry.

The USPSTF recommends that primary care clinicians, using an “appropriate brief familial risk assessment tool” should screen women with  

  • Personal or family history of breast, ovarian, tubal, or peritoneal cancer or
  • Ancestry associated with BRCA1/2 gene mutation

The USPSTF document further states that

Women with a positive result on the risk assessment tool should receive genetic counseling and, if indicated after counseling, genetic testing. (Grade B – The USPSTF recommends the service. There is high certainty that the net benefit is moderate or there is moderate certainty that the net benefit is moderate to substantial)

Note: A patient with a family member with known BRCA1/2 pathogenic variant should also be referred to genetic counseling

For women whose personal or family history or ancestry is not associated with potential harmful BRCA1/2 gene mutations

The USPSTF recommends against routine risk assessment, genetic counseling, or genetic testing (Grade D – The USPSTF recommends against the service. There is moderate or high certainty that the service has no net benefit or that the harms outweigh the benefits)

Appropriate Familial Risk Assessment Tools

  • USPSTF evaluated the following validated tools that can help estimate the likelihood of BRCA1/2 pathogenic variants and guide genetic referral
    • Ontario Family History Assessment Tool
    • Manchester Scoring System
    • Referral Screening Tool
    • Pedigree Assessment Tool
    • 7-Question Family History Screening Tool
    • International Breast Cancer Intervention Study instrument (Tyrer-Cuzick)
    • Brief versions of BRCAPRO (e.g., BRCAPROLYTE)

Note: NCCN and ACMG/ NSGC also have guidelines regarding when to refer women for genetic counseling (see ‘Learn More – Primary Sources’ below for links to these sites) | ACOG recommends that “Genetic counseling is recommended before initiation of genetic testing and can be performed by an obstetrician–gynecologist (or other gynecologic care provider) who has expertise in cancer genetics or by a genetic counselor”

KEY POINTS:

  • BRCA1/2 pathogenic variants
    • Occur in an estimated 1/300 to 1/500 women and account for the following percent of cancer cases
      • Breast cancer: 5% to 10%
      • Ovarian cancer: 15%
    • Significantly increase cancer risk breast cancer: 45% to 65% (cumulative age 70)
    • Significantly increase ovarian, fallopian tube, or peritoneal cancer risk (cumulative age 70)
      • BRCA1: 39% 
      • BRCA2: 10% to 17%

Note: See ‘BRCA1 & BRCA2 Mutations: What Are the Risks for Developing Breast and Ovarian Cancer?’ in ‘Related ObG Topics’ below

  • NCCN and other professional bodies recommend offering BRCA testing to any women with ovarian cancer
    • 15% of women with epithelial ovarian cancer will have a pathogenic variant in BRCA1/2
  • NCCN also recommends that all individuals with pancreatic cancer be offered BRCA1/2 testing along with other related genes associated with this malignancy
  • 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
    • NCCN updated its guidance (December 2019) and now states that testing for the 3 founder mutations can be ‘considered’ in an AJ individual without personal cancer history | Ideally testing should be offered within a longitudinal study, but if such a study is not readily available, the test may be provided if there is pre-test and education and post-test counseling available
  • Multigene Panel Testing: USPSTF does not endorse the use of multigene panel testing beyond BRCA1/2, due to limited data regarding clinical utility
    • Benefit of multigene panels: Will detect variants associated with other cancers that are seen in conjunction with breast cancer, for example
      • Pancreatic cancer | Prostate cancer | Melanoma
    • Risks associated with multigene panels: While multigene panel testing offers more comprehensive coverage of other important genes there is additional risk for
      • Identifying variants of uncertain significance (VUS)
      • Clinical follow-up may not be well defined  
    • Pre and post genetic counseling may be especially beneficial for those offered multigene panel testing
    • Note: ACOG does address multigene panels and finds that “Genetic testing may be performed using a panel of multiple genes through next-generation sequencing technology” | Heritable cancer syndromes may overlap such that a strong family history for ovarian cancer may be the result of a pathogenic variant in BRCA1/2 or genes associated with Lynch Syndrome
  • This USPSTF guidance specifically addresses women and not men
    • Metastatic prostate cancer
      • BRCA1/2 found in 6% of metastatic prostate | NCCN therefore considers this pathology an indication for genetic counseling and BRCA1/2 testing
  • Population addressed in this current USPSTF guideline: Higher risk only and, therefore, may benefit from genetic counseling regarding BRCA1/2
    • USPSTF has another guideline specific to average risk population
      • All women at average risk (i.e., not at higher risk for BRCA1/2) should have a 5-year breast cancer risk assessment to determine if they may benefit from chemoprophylaxis (e.g., tamoxifen, raloxifene or aromatase inhibitor)
      • These risk assessment tools are different than those described above and focus on breast density, prior history of breast atypia etc. (See ‘Related ObG Topics below)
  • New treatments (not addressed in this guidance)
    • Knowledge of BRCA status has implications for treatment
    • Poly (ADP-ribose) polymerase (PARP) inhibitors block an enzyme involved in DNA damage repair
    • FDA has approved PARP inhibitors for treatment of BRCA-associated metastatic breast and ovarian cancers, and other cancers in various pharmaceutical pipelines  

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Learn More – Primary Sources:

USPSTF Recommendation Statement: Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer

Editorial: Broadening Criteria for BRCA1/2 Evaluation: Placing the USPSTF Recommendation in Context

Editorial: USPSTF Recommendations for BRCA1 and BRCA2 Testing in the Context of a Transformative National Cancer Control Plan

PARP inhibitors for BRCA1/2-mutated and sporadic ovarian cancer: current practice and future directions

Hereditary Cancer Evaluation in 2019—a Rapidly Evolving Landscape

BRCAPROLYTE: A Two-Stage Approach to Genetic Risk Assessment in Primary Care

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

Addendum: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment (see Table 1 in original article)

ACOG Practice Bulletin 182: Hereditary Breast and Ovarian Cancer Syndrome

ACOG Committee Opinion 793: Hereditary Cancer Syndromes and Risk Assessment

Locate a Genetic Counselor or Genetics services:

Genetic Services Locator-ACMG

Genetic Services Locator-NSGC

Genetic Services Locator-CAGC

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Related ObG Topics:

USPSTF Guidance: When to Use Medication to Reduce Breast Cancer Risk
Prophylactic Mastectomy and BRCA – Risk Reduction and Guidelines
BRCA1 & BRCA2 Mutations: What Are the Risks for Developing Breast and Ovarian Cancer?
Could Early Exome Sequencing Improve Detection and Prevention of BRCA1/2 Breast Cancer?
Cascade Testing: Notifying and Counseling Relatives of Individuals who are BRCA Mutation Carriers

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presented in this activity is not meant to serve as a guideline for patient management. Any procedures, medications, or other courses of diagnosis or treatment discussed or suggested in this activity should not be used by clinicians without evaluation of their patient’s conditions and possible contraindications and/or dangers in use, review of any applicable manufacturer’s product information, and comparison with recommendations of other authorities.

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