Understanding the Cost of BRCA Gene Testing
Key points
- BRCA1 Mutation: Significantly increases a woman's lifetime risk of breast cancer to 65-75% and ovarian cancer to 40-45%. Men also have an increased risk of breast and pancreatic cancer.
- BRCA2 Mutation: Increases a woman's lifetime risk of breast cancer to 45-70% and ovarian cancer to 10-20%. Men with BRCA2 mutations have a higher risk of prostate, breast, and pancreatic cancer.
BRCA gene testing can be a powerful tool for understanding your risk for certain hereditary cancers. Prompted by high-profile stories like Angelina Jolie's decision to undergo preventive surgery, awareness has grown around the BRCA1 and BRCA2 genes. Harmful mutations in these genes significantly increase the lifetime risk of developing breast, ovarian, prostate, and pancreatic cancers.
Understanding the process, implications, and especially the cost of testing is crucial for making an informed decision. This guide breaks down everything you need to know about the cost of BRCA gene testing, from insurance coverage to affordable self-pay options.
What Are BRCA Genes and Why is Testing Important?
BRCA1 and BRCA2 are tumor suppressor genes that produce proteins to repair damaged DNA. When a harmful mutation exists in one of these genes, this repair function is impaired, allowing DNA damage to accumulate, which can lead to cancer.
- BRCA1 Mutation: Significantly increases a woman's lifetime risk of breast cancer to 65-75% and ovarian cancer to 40-45%. Men also have an increased risk of breast and pancreatic cancer.
- BRCA2 Mutation: Increases a woman's lifetime risk of breast cancer to 45-70% and ovarian cancer to 10-20%. Men with BRCA2 mutations have a higher risk of prostate, breast, and pancreatic cancer.
Knowing you carry a mutation allows you and your healthcare team to create a personalized plan for managing your cancer risk. This may include enhanced screening, risk-reducing medications, or preventive surgeries, all of which can dramatically improve long-term health outcomes.
“Having a BRCA gene mutation significantly increases a person’s risk for breast and ovarian cancers, but knowledge is power – with this information, individuals can take proactive steps for early detection or risk reduction.”
– Susan Domchek, MD, Executive Director of the Basser Center for BRCA at Penn Medicine
Who Should Consider BRCA Gene Testing?
Genetic testing for BRCA mutations is not recommended for everyone. It is typically advised for individuals with personal or family health histories that suggest a higher likelihood of carrying a mutation. According to guidelines from organizations like the U.S. Preventive Services Task Force (USPSTF), you should consider testing if you have:
- A personal history of breast cancer (especially if diagnosed before age 50, triple-negative, or in both breasts), ovarian cancer, pancreatic cancer, or metastatic prostate cancer.
- A family history of a known BRCA1 or BRCA2 mutation.
- Multiple relatives on the same side of the family with breast, ovarian, pancreatic, or prostate cancer.
- A male relative with breast cancer.
- Ashkenazi Jewish ancestry, as specific BRCA mutations are more common in this population.
Consulting with a doctor or genetic counselor is the best first step to assess your personal risk and determine if testing is right for you.
The BRCA Gene Testing Process
The journey from consideration to results typically involves several key steps:
- Genetic Counseling: A genetic counselor will review your personal and family medical history, discuss the pros and cons of testing, and explain what the results might mean for you and your family.
- Sample Collection: Testing is done using a simple blood draw or a saliva sample.
- Laboratory Analysis: Your DNA is analyzed in a specialized lab to look for mutations in the BRCA1 and BRCA2 genes. Many tests today are part of multi-gene panels, which check other cancer-related genes simultaneously.
- Receiving Results: Results typically take two to four weeks. They will be classified as positive, negative, or a "variant of uncertain significance" (VUS).
- Post-Test Counseling: A healthcare professional will help you understand your results and discuss the next steps for managing your health, whether that involves increased screening, preventive measures, or informing family members.
Understanding the Cost of BRCA Gene Testing
The cost of BRCA testing has decreased significantly since a 2013 Supreme Court ruling ended gene patenting, allowing for more competition among labs. However, the price can still vary widely.
Factors Influencing the Cost
- Type of Test: A targeted test for a known family mutation is less expensive than comprehensive sequencing of the entire BRCA1 and BRCA2 genes.
- Multi-Gene Panels: Many labs now offer panels that test for dozens of cancer-risk genes. Surprisingly, these are often similarly priced to BRCA-only tests.
- Insurance Coverage: Whether your insurance covers the test is the single biggest factor in your out-of-pocket cost.
- Lab Choice: Prices differ between laboratories like Invitae, Myriad Genetics, LabCorp, and others.
- Additional Services: The cost may or may not include genetic counseling sessions, which can be billed separately.
Typical Cost Ranges (With and Without Insurance)
- With Insurance Coverage: If you meet your insurer's criteria for medical necessity, your out-of-pocket cost may be $0 or limited to a small copay or deductible. The Affordable Care Act (ACA) mandates that preventive services, including BRCA testing for high-risk women, be covered with no cost-sharing.
- Without Insurance (Self-Pay): If you pay out-of-pocket, the cost can range from $250 to over $3,000. Many leading labs have established a self-pay price of around $250-$450 for a comprehensive hereditary cancer panel.
- Direct-to-Consumer (DTC) Tests: Companies like 23andMe offer limited BRCA testing as part of their health reports for around $200. Crucially, these tests only screen for a few specific mutations and are not comprehensive. They are not a substitute for clinical-grade testing if you have significant risk factors.
Does Insurance Cover BRCA Gene Testing?
For many people, insurance is the key to affordable testing.
- Private Insurance: Most plans cover BRCA testing if you meet specific criteria based on your personal or family cancer history, as defined by the NCCN or USPSTF. Pre-authorization is often required.
- Medicare: Covers genetic testing for individuals who have already been diagnosed with a cancer linked to BRCA and meet specific criteria. Coverage for unaffected individuals based solely on family history can be limited.
- Medicaid: Coverage varies by state, but many programs cover testing for individuals who meet high-risk criteria.
International Cost and Coverage
Coverage and cost differ significantly around the world.
| Country/Region | Approximate Out-of-Pocket Cost (USD) | Coverage Details |
|---|---|---|
| United States | $0 (with insurance) to $250-$3,000+ | Most insurance plans cover testing for high-risk individuals. |
| Canada | $750 - $1,500 | Covered by provincial healthcare if risk criteria are met. |
| United Kingdom | $1,300 - $2,000 | Covered by the NHS for eligible individuals; private testing available. |
| Australia | $400 - $800 | Covered by Medicare for high-risk individuals. |
Costs are estimates and may vary. Always verify with local providers.
Financial Assistance and Low-Cost Options
If cost is a barrier, several options are available:
- Lab Financial Assistance: Many testing labs have patient assistance programs or payment plans. Some cap the out-of-pocket cost at a few hundred dollars.
- Non-Profit Organizations: Groups like FORCE (Facing Our Risk of Cancer Empowered) and Bright Pink provide resources and may be aware of assistance programs.
- Research Studies: You may be eligible for free testing by participating in a clinical trial. Check ClinicalTrials.gov for relevant studies.
Navigating Emotional and Legal Considerations
The "cost" of testing extends beyond the financial price tag.
- Emotional Impact: Waiting for results can be stressful, and a positive result can bring a mix of relief (from uncertainty) and anxiety. Support groups and counseling are valuable resources.
- Genetic Discrimination: In the U.S., the Genetic Information Nondiscrimination Act (GINA) prevents health insurers and most employers from discriminating based on your genetic information. However, GINA does not apply to life, disability, or long-term care insurance.
- Family Implications: Your result has implications for your relatives. Genetic counselors can provide guidance on how to share this sensitive information with family members who may also be at risk.
Additional Resources
For more information, consult these trusted sources:
- National Cancer Institute: BRCA Gene Mutations: Cancer Risk and Genetic Testing
- American Cancer Society: Genetic Testing for Cancer Risk
- Mayo Clinic: BRCA gene test
- Find a Genetic Counselor: National Society of Genetic Counselors
Ultimately, the decision to pursue BRCA testing is a personal one. While the financial cost has become more manageable, it's essential to weigh it alongside the emotional and medical implications. By arming yourself with information and consulting with healthcare professionals, you can make an empowered choice that is right for you and your health.
About the author
Sofia Rossi, MD, is a board-certified obstetrician-gynecologist with over 15 years of experience in high-risk pregnancies and reproductive health. She is a clinical professor at a top New York medical school and an attending physician at a university hospital.