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  • Professor Andrea M. Armani, University of Southern California
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  • Professor Xuchen Wang, Harbin Engineering University
  • Professor Stefan Witte, Delft University of Technology

BRCA Testing Criteria: Do You Qualify for Genetic Screening?

Originally Posted On: https://www.jscreen.org/blog/brca-testing-criteria-do-you-qualify-for-genetic-screening

 

 

BRCA Testing Criteria: Do You Qualify for Genetic Screening?

Understanding whether you qualify for BRCA genetic testing is an important step in managing your health. While many people wonder about their genetic cancer risk, specific criteria help determine who would benefit most from this valuable screening tool. By working with experienced genetic counselors, you can better understand your risk factors and testing options.

Understanding BRCA Testing Eligibility

The National Comprehensive Cancer Network (NCCN) has established clear guidelines for genetic testing eligibility. These criteria are designed to identify individuals most likely to carry BRCA gene mutations that could impact their health decisions.

Personal History Criteria

Several aspects of your personal medical history may indicate the need for BRCA testing:

  • Breast cancer diagnosis at age 50 or younger
  • Triple-negative breast cancer diagnosed at any age
  • Two or more primary breast cancer diagnoses
  • Breast cancer diagnosis with a close relative having had breast cancer at or under age 50
  • A breast cancer diagnosis with many individuals on the same side of the family with breast, ovarian, and/or pancreatic cancers
  • Male breast cancer at any age
  • Ovarian, fallopian tube, or peritoneal cancer diagnosis
  • Pancreatic cancer diagnosis
  • High-risk, very-high risk, or metastatic prostate cancer diagnosis
Family History Considerations

Your family history plays a crucial role in determining testing eligibility. Key factors include:

  • Multiple family members with breast cancer, especially if diagnosed before age 50
  • One or more relatives with ovarian cancer at any age
  • A combination of breast and/or ovarian cancer in your family
  • Male relatives with breast cancer
  • Multiple cases of prostate cancer in male relatives
  • A family history of one or more pancreatic cancer diagnoses
  • A family history of one or more high-risk, very-high risk, or metastatic prostate cancer diagnoses
  • A known BRCA mutation in your family
Why These Criteria Matter

Insurance coverage for genetic testing often depends on meeting established testing criteria.

When you meet these guidelines, testing is more likely to be covered by insurance, making it more accessible. More importantly, these criteria identify individuals who have the highest likelihood of carrying BRCA mutations and therefore may benefit most from testing.

Beyond Traditional Criteria

While standard criteria are important, some additional factors may influence testing recommendations:

Limited Family History

Some people have limited knowledge of their family history due to:

  • Small family size
  • Limited information about relatives
  • Adoption
  • Early deaths in the family
  • Few female relatives

Other Risk Models

Individuals whose risk of having a BRCA mutation is over 5% based on probability models like:

  • Tyrer-Cuzik
  • BRCAPro
  • CanRisk

In these cases, healthcare providers may recommend testing even if traditional family history criteria aren’t met.

The Testing Process

If you meet testing criteria, the process typically involves:

  1. An opportunity to ask any questions you might have to a healthcare provider
  2. Review of personal and family history
  3. Understanding  of testing benefits and limitations
  4. Blood or saliva sample collection
  5. Laboratory analysis
  6. Results discussion and planning
Understanding Test Results

Test results can fall into three categories:

Positive Results
  • Indicates presence of a harmful BRCA mutation
  • Allows for proactive health management
  • May impact family members’ health decisions
  • Enables access to increased screening and preventive options for forms of cancers related to that gene mutation
Negative Results
  • Shows no detected harmful mutations
  • May still require standard cancer screening or increased monitoring relating to family history
  • Should be interpreted in context of family history
  • Doesn’t eliminate all cancer risk
Variants of Uncertain Significance
  • Identifies genetic changes with unclear impact
  • Requires ongoing follow-up to understand updates regarding what science currently understands about this genetic change
  • May be reclassified to clearly positive or clearly negative as  research advances
  • Is typically not used in medical decision-making
Making Informed Decisions

It’s a personal decision that should be made after considering the following:

  • The potential impact on yourself and family members
  • How results might affect your medical care and/or mental health
  • Emotional readiness for results
  • Available support systems
Moving Forward with Testing

If you believe you meet testing criteria:

  1. Gather detailed family health history
  2. Document ages of cancer diagnoses in relatives
  3. Review insurance coverage
  4. Develop a support network
The Future of Genetic Testing

As our understanding of genetics grows, testing criteria continue to evolve. New genes are being discovered, and testing becomes more comprehensive. Staying informed about these changes through your healthcare provider ensures you have access to appropriate testing when needed.

Taking the Next Step

Whether you clearly meet testing criteria or are uncertain about your eligibility, speaking with a healthcare provider is the best first step. They can help evaluate your personal situation and guide you toward appropriate testing decisions.

Remember, meeting testing criteria simply means you have factors that make genetic testing more likely to be informative. The decision to proceed with testing remains a personal choice that should align with your health goals and values.

Consult with your healthcare provider to determine if BRCA genetic testing is appropriate for your situation. Genetic counselors are available to help guide you through the evaluation process and understand your options.

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