Feasibility, acceptability, and limited efficacy of health system-led familial risk notification: protocol for a mixed-methods evaluation.
Feasibility, acceptability, and limited efficacy of health system-led familial risk notification: protocol for a mixed-methods evaluation.
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DOI：
10.1186/s40814-022-01142-9
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发表时间：
2022-08-09
影响因子：
1.7
通讯作者：
Henrikson, Nora B.
中科院分区：
文献类型：
--
作者：
Blasi, Paula R.;Scrol, Aaron;Anderson, Melissa L.;Gray, Marlaine Figueroa;Tiffany, Brooks;Fullerton, Stephanie M.;Ralston, James D.;Leppig, Kathleen A.;Henrikson, Nora B.
对与遗传性乳腺癌和卵巢癌风险相关的致病变异进行基因检测，可以通过加强已知变异患者及其生物学亲属的预防护理来改善癌症结果。级联筛查——通过通知并邀请亲属考虑进行检测来发现病例的过程——目前依赖于患者通知自己的高危亲属。然而，这些亲属中的许多人从未意识到他们可能面临危险。我们开发并实施了一种新的卫生系统主导的家族遗传风险通知流程，护理团队可以直接联系高危亲属。该协议描述了一项评估这种干预措施的可行性、可接受性和有限功效的研究。该可行性研究将采用单臂、非随机、混合方法前瞻性设计。我们将招募两组参与者：先证者和先证者的亲属。符合资格的先证者目前是华盛顿凯撒医疗机构 (KPWA) 的注册会员，即将预约进行遗传性林奇综合征、乳腺癌或卵巢癌的测试前遗传咨询。符合资格的亲属不必是 KPWA 成员，可以是先证者的一级和二级亲属。在与先证者预约期间，遗传咨询师将确定先证者是否适合进行基因检测，如果适合，哪些亲属可能会从级联检测中受益。然后，遗传咨询师将主动联系任何或所有已确定的亲属，讨论遗传风险和检测。本研究的主要结果是实施家庭通知流程的可行性，我们将使用干预范围、干预可接受性和有限功效的定量和定性数据来衡量。分析将主要是描述性和探索性的，目的是为未来更大规模的直接接触干预试验做好准备。我们的研究结果将为创建基于美国的家庭通知系统提供新的基础证据，该系统可以直接解决后勤和道德挑战，同时优先考虑患者和家庭的偏好。在线版本包含可在 10.1186/s40814-022-01142-9 获取的补充材料。
Genetic testing for pathogenic variants associated with hereditary breast and ovarian cancer risk can improve cancer outcomes through enhanced preventive care in both people with known variants and their biologic relatives. Cascade screening—the process of case-finding in relatives by notifying and inviting them to consider testing—currently relies on the patient to notify their own at-risk relatives. However, many of these relatives never learn they might be at risk. We developed and implemented a new health system-led familial genetic risk notification process where the care team offers to contact at-risk relatives directly. This protocol describes a study to assess the feasibility, acceptability, and limited efficacy of this intervention. This feasibility study will use a single-arm, nonrandomized, mixed-methods prospective design. We will enroll two groups of participants: probands and relatives of probands. Eligible probands are currently enrolled Kaiser Permanente Washington (KPWA) members with an upcoming appointment for pre-test genetic counseling for hereditary Lynch syndrome, breast, or ovarian cancer. Eligible relatives, who do not have to be KPWA members, are first-and second-degree relatives of probands. During the appointment with the proband, the genetic counselor will determine whether the proband is appropriate for genetic testing and if so, which relatives might benefit from cascade testing. The genetic counselor then will offer to contact any or all identified relatives directly to discuss genetic risk and testing. The primary outcome of this study is the feasibility of the implemented familial notification process, which we will measure using quantitative and qualitative data on intervention reach, intervention acceptability, and limited efficacy. Analyses will be primarily descriptive and exploratory, with the intent of preparing for a future, larger trial of direct contact interventions. Our findings will provide new, foundational evidence for the creation of US-based familial notification systems that directly address logistical and ethical challenges while prioritizing the preferences of patients and families. The online version contains supplementary material available at 10.1186/s40814-022-01142-9.