Population-Based BRCA Testing Could Prevent Thousands of Breast and Ovarian Cancers, but Faces Challenges in Implementation

核心概念

Population-based BRCA genetic testing for women aged 30 and older could prevent over 2,000 breast cancers and 485 ovarian cancers in Canada, but faces challenges in achieving high uptake and building necessary testing infrastructure.

摘要

The article discusses a study that examined the cost-effectiveness of providing BRCA1 and BRCA2 genetic testing to all women aged 30 and older in the Canadian population, compared to the current practice of testing only those with a family history of breast and ovarian cancer.

The key findings are:

• Population-based BRCA testing was found to be cost-effective, with an incremental cost-effectiveness ratio of CAD $32,276 (US $23,403) per quality-adjusted life year (QALY) from the payer perspective, or CAD $16,416 (US $11,903) per QALY from the societal perspective.
• This population-based approach could prevent 2,555 breast cancers and 485 ovarian cancers per 1 million Canadian women, averting 196 breast cancer deaths and 163 ovarian cancer deaths.
• However, the study's assumption of 100% uptake of genetic testing is unrealistic, as current uptake rates are only 20-30% for eligible and at-risk women. Realistic uptake levels of 20-60% would significantly reduce the cost-effectiveness.
• Additionally, the study does not address the challenge of establishing the necessary testing infrastructure and training more genetic counselors to handle the increased demand from population-based screening.

The article also discusses The Screen Project, an online service in Canada that provides genetic testing for 19 genes, including BRCA1 and BRCA2, for a cost of CAD $400. This was developed to address the limited access to genetic testing under the current guidelines.

统计

Population-based BRCA testing could prevent 2,555 breast cancers and 485 ovarian cancers per 1,000,000 Canadian women.
Population-based BRCA testing could avert 196 breast cancer deaths and 163 ovarian cancer deaths per 1,000,000 women.
The cost of population-based BRCA testing is CAD $32,276 (US $23,403) per QALY from the payer perspective, or CAD $16,416 (US $11,903) per QALY from the societal perspective.

引用

"More than 95% of people who have BRCA genes don't know about it, and 50%-80% of the people who die of BRCA mutation cancers cannot give a strong family history. The health system is not set up to identify and maximize our ability to prevent cancer. We need to change our screening paradigm and look at alternative options."
"While there are too few well-conducted studies examining genetic testing uptake for BRCA1 and BRCA2, the literature suggests that the uptake of currently available genetic testing for eligible and at-risk women is between 20% and 30%. For screening mammography in Canada, participation uptake is just over 60%."

从中提取的关键见解

Is Population-Based BRCA Testing Cost-Effective?

by Fran 在 www.medscape.com 09-26-2024

https://www.medscape.com/viewarticle/population-based-brca-testing-cost-effective-2024a1000hgo

更深入的查询

What strategies could be implemented to increase the uptake of population-based BRCA genetic testing, especially among underserved and minority populations?

To enhance the uptake of population-based BRCA genetic testing, particularly among underserved and minority populations, several strategies can be implemented:

Community Engagement and Education: Initiatives should focus on raising awareness about BRCA testing and its benefits through community outreach programs. Collaborating with local organizations, faith-based groups, and community health workers can help disseminate information effectively. Educational campaigns should address cultural beliefs and misconceptions surrounding genetic testing.

Accessible Testing Options: Providing low-cost or free genetic testing options can significantly increase participation rates. Programs like The Screen Project, which offer online genetic testing services, should be expanded and subsidized to ensure affordability for all demographics.

Culturally Competent Counseling: Training genetic counselors to be culturally sensitive and aware of the unique challenges faced by minority populations can improve trust and communication. This approach can help address fears and concerns about genetic testing, making individuals more likely to participate.

Incentives for Participation: Offering incentives, such as transportation vouchers or financial assistance for testing, can encourage individuals from underserved communities to seek genetic testing.

Integration into Routine Healthcare: Incorporating BRCA testing into routine healthcare visits, particularly for women aged 30 and older, can normalize the process and increase uptake. Healthcare providers should be trained to discuss genetic testing as a standard part of preventive care.

Policy Advocacy: Advocating for policy changes that mandate insurance coverage for genetic testing can remove financial barriers and promote equitable access to testing for all women, regardless of socioeconomic status.

How can the healthcare system address the challenges of building the necessary testing infrastructure and training more genetic counselors to support a population-based BRCA screening program?

To effectively build the necessary testing infrastructure and train more genetic counselors for a population-based BRCA screening program, the healthcare system can adopt the following approaches:

Investment in Infrastructure: Governments and healthcare organizations should allocate funding specifically for expanding genetic testing facilities and resources. This includes establishing dedicated genetic counseling centers and increasing laboratory capacity to handle the anticipated rise in testing demand.

Training Programs for Genetic Counselors: Developing comprehensive training programs for genetic counselors is essential. Partnerships with universities and healthcare institutions can facilitate the creation of specialized courses that focus on BRCA testing and counseling techniques. Scholarships and incentives can attract individuals to this field, particularly from underrepresented backgrounds.

Telehealth Services: Implementing telehealth options for genetic counseling can alleviate some infrastructure burdens. Virtual consultations can increase access to genetic counseling services, especially for individuals in remote or underserved areas.

Collaboration with Existing Healthcare Providers: Integrating genetic counseling into primary care settings can help distribute the workload and make services more accessible. Training primary care physicians to provide initial genetic risk assessments can streamline the referral process to specialized genetic counselors.

Public-Private Partnerships: Collaborating with private organizations and non-profits can enhance resources and expertise in genetic testing and counseling. These partnerships can facilitate the sharing of best practices and innovative solutions to improve service delivery.

Monitoring and Evaluation: Establishing a robust monitoring and evaluation framework can help assess the effectiveness of the population-based BRCA screening program. Continuous feedback can inform necessary adjustments to training and infrastructure development.

What other genetic or genomic screening approaches could be considered to maximize early diagnosis and prevention of cancer in the general population?

In addition to BRCA genetic testing, several other genetic and genomic screening approaches can be considered to maximize early diagnosis and prevention of cancer in the general population:

Multi-Gene Panel Testing: Expanding genetic testing to include multi-gene panels that assess a broader range of hereditary cancer syndromes can identify individuals at risk for various cancers beyond breast and ovarian, such as colorectal and pancreatic cancers.

Polygenic Risk Scores (PRS): Utilizing polygenic risk scores, which aggregate the effects of multiple genetic variants, can provide a more comprehensive risk assessment for common cancers. This approach can help identify individuals who may benefit from enhanced screening and preventive measures.

Liquid Biopsy Technologies: Implementing liquid biopsy techniques, which analyze circulating tumor DNA in blood samples, can facilitate early detection of cancers. This non-invasive method can be particularly beneficial for populations with limited access to traditional screening methods.

Family History and Genetic Risk Assessment Tools: Developing and promoting user-friendly online tools that allow individuals to assess their family history and genetic risk can empower people to seek appropriate testing and screening.

Targeted Screening Programs: Creating targeted screening programs for high-risk populations, such as those with known family histories of cancer or specific ethnic groups with higher prevalence rates of certain genetic mutations, can enhance early detection efforts.

Education on Lifestyle and Environmental Factors: Integrating genetic screening with education on modifiable risk factors, such as diet, exercise, and environmental exposures, can promote a holistic approach to cancer prevention.

By implementing these strategies, the healthcare system can significantly improve early diagnosis and prevention of cancer, ultimately leading to better health outcomes for the general population.