A Randomized Trial of Proactive Outreach and Streamlined Genetic Education in BRCA Families
试验速览
- 阶段
- 不适用
- 状态
- Enrolling By Invitation
- 入组人数
- 240
- 试验地点
- 8
- 主要终点
- Uptake of genetic counseling and testing
研究概览
简要总结
The primary goal of this research is to test a web-based genetic education intervention that is designed to educate men and women from hereditary cancer families about the personal relevance of genetic testing in order to help them male decisions about whether to pursue genetic testing. We will test this intervention against standard care for men and women from hereditary cancer families. The web-based educational intervention includes all of the information typically covered during genetic counseling. As a result, after completing the education intervention, participants can proceed directly to a brief telephone call with a genetic counselor followed by testing if they choose. A baseline survey will be administered prior to randomization and then follow-up surveys will be administered at 1-month and 6-months post-randomization. Primary outcomes will be completion of genetic counseling, uptake of genetic testing, genetic test results and quality of life.
详细描述
Women who carry a pathogenic BRCA variant (PV) have a lifetime breast cancer risk of 55-70% and a lifetime ovarian cancer risk of 16-45%. Men with a PV are at increased risk for prostate, pancreatic and breast cancer. BRCA testing typically begins with a family member (proband) who is affected with cancer. If a PV is identified, probands are encouraged to communicate this test result with at risk relatives. Unaffected first- and second-degree relatives (FSDR), who are at 50% and 25% risk for carrying the PV, may then pursue genetic counseling and testing for the specific variant identified in the proband (targeted testing). Targeted testing is far less complex and expensive than testing probands and definitively distinguishes carriers from non-carriers. Such testing allows carriers to reduce their cancer incidence, morbidity and mortality through risk reduction and screening while non-carriers can avoid unnecessary medical intervention and their offspring can safely forgo testing. Despite these well-recognized significant benefits and clear guideline-based recommendations for genetic counseling and testing, only 28-57% of FSDRs undergo BRCA testing. This low rate of participation occurs despite high rates of result communication by probands, calling into question the quality of the information communicated and the accuracy of FSDRs understanding of the importance of the information. Additional barriers to counseling and testing include: limited access, lack of referral, time and travel commitment, and lack of proactive clinical approaches to facilitate uptake.
Remarkably, there have been no randomized trials focused on increasing use of guideline consistent genetic counseling and targeted testing. Guided by the Informed Choice (ICM) and Health Belief Models (HBM), the investigators will conduct a randomized controlled trial of proactive Web-based pre-test education plus a streamlined telephone genetic information session (W+T) vs usual care (UC) for unaffected FSDRs of PV carriers. Web-based pre-counseling education followed by a streamlined telephone genetic information session will be proactively delivered. Following counseling, participants will have the option to proceed directly to targeted testing. By proactively providing access to accurate genetic information and reducing barriers to genetic services, W+T is predicted to yield increased uptake of genetic counseling and testing.
Aim 1: Evaluate the impact of web-based intervention plus brief telephone information (W+T) vs. Usual Care (UC) on uptake of genetic counseling and targeted genetic testing.
Aim 2: Evaluate the impact of W+T vs UC on psychosocial outcomes.
Aim 3: Evaluate mechanisms and moderators of W+T.
研究设计
- 研究类型
- Interventional
- 分配方式
- Randomized
- 干预模型
- Parallel
- 主要目的
- Health Services Research
- 盲法
- Single (Outcomes Assessor)
盲法说明
Outcomes will be assessed via electronic survey and review of medical records. In cases where surveys need to be completed by telephone, the outcomes assessor will be blind to the participant's randomization.
入排标准
- 年龄范围
- 21 Years 至 75 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •A first- (sibling, adult offspring) or second-degree (aunt/uncle, niece/nephew if at-risk parent is deceased) biological relative of an individual with a recently identified BRCA1 or BRCA2 mutation
排除标准
- •Personal diagnosis of metastatic cancer
- •Prior genetic testing for hereditary breast/ovarian cancer
- •Have one or more children who have tested positive for a BRCA1 or BRCA2 mutation
- •Cannot participate in or understand English
- •Cannot provide meaningful informed consent
结局指标
主要结局
Uptake of genetic counseling and testing
时间窗: 6-months post randomization
The proportion of participants who complete genetic counseling and testing
次要结局
- Patient Reported Outcomes Measurement Information System -- Depression(1- and 6-months post-randomization)
- Patient Reported Outcomes Measurement Information System -- Anxiety(1- and 6-months post-randomization)
- Decisional Conflict Scale(1- and 6-months post-randomization)
- Multidimensional Impact of Cancer Risk Scale - Uncertainty Scale(6-months post-randomization)
研究者
Marc D Schwartz
Professor of Oncology, Associate Director for Population Science
Georgetown University