Department of Behavioral Science, UT MD Anderson Cancer Center, Dan L. Duncan Building, 1515 Holcombe Blvd, Unit 1330, Houston, TX, 77030, USA.
Department of Breast Medical Oncology, UT MD Anderson Cancer Center, Houston, TX, 77030, USA.
Curr Oncol Rep. 2022 Jun;24(6):733-740. doi: 10.1007/s11912-022-01254-8. Epub 2022 Mar 18.
Individuals carrying germline mutations in BRCA1/2 have unique psychosocial and educational needs that must be met to ensure informed clinical decision-making. In this review, we highlight the strategies used in clinical practice to support patients' needs as well as currently available pre- and post-disclosure support interventions.
Clinical risk communication is complicated by the uncertainty associated with gene penetrance, inconclusive results, variable effectiveness of surgical and screening interventions, and inadequate awareness of clinical genetics. Interventions to support patients' psychosocial needs, and strategies for effective and scalable clinical risk communication are in routine use and largely effective at meeting patients' needs. Research is underway to develop newer supportive resources; however, the inadequate representation of all mutation carriers persists. Effective clinical risk communication strategies, decision support aids, written educational materials, and supportive psychosocial tools can together have a large impact on meeting BRCA carriers' supportive needs.
携带 BRCA1/2 种系突变的个体具有独特的社会心理和教育需求，必须满足这些需求，以确保做出明智的临床决策。在这篇综述中，我们强调了临床实践中用于满足患者需求的策略，以及目前可用的披露前和披露后支持干预措施。
临床风险沟通受到与基因外显率、不确定的结果、手术和筛查干预效果的可变性以及对临床遗传学认识不足相关的不确定性的影响。支持患者社会心理需求的干预措施，以及有效的临床风险沟通策略，已在常规使用，并且在很大程度上满足了患者的需求。正在进行研究以开发新的支持资源；然而，所有突变携带者的代表性仍然不足。有效的临床风险沟通策略、决策支持工具、书面教育材料和支持性心理社会工具可以共同对满足 BRCA 携带者的支持需求产生重大影响。
