COMMUNICATION PREFERENCES FOR GENOME SEQUENCING RESULTS IN BREAST CANCER PATIENTS

描述（由申请人提供）：将全基因组测序（WGS）结果传达给患者是一个关键的伦理和社会心理问题，但更多的工作集中在是否传达结果而不是如何传达结果。年轻的乳腺癌患者（在40岁时诊断）是早期应用WGS识别癌症易感性等位基因和影响治疗反应的突变的关键人群，特别是那些有很强的乳腺癌家族史且不携带已知BRCA 1/2突变的患者。然而，很少有人知道他们的沟通偏好有关的内容和交付的WGS的结果。基于风险信息和处理的综合概念框架，我们将研究年轻乳腺癌患者对WGS结果的沟通偏好（即，内容、传递格式、信息源、定时）和可能影响这些偏好的因素（即，遗传学相关信念、决策偏好、乳腺癌复发担忧、信息规范、健康素养）。我们将通过全国性的年轻女性乳腺癌研究计划招募所有参与者，重点是四个亚组：有很强的乳腺癌家族史和没有确定的BRCA 1/2突变;没有确定的BRCA 1/2突变和没有或中度家族史; BRCA 1/2突变和很强的家族史;和没有接受基因检测的家族史。具体目标是：（1）调查年轻乳腺癌患者对WGS结果的沟通偏好;和（2）对年轻乳腺癌患者进行调查，以检查（A）影响具有强烈乳腺癌家族史且未鉴定出BRCA 1/2突变的年轻乳腺癌患者对WGS结果的沟通偏好的因素，和（B）比较年轻乳腺癌患者亚组对WGS结果的沟通偏好。我们将使用序贯混合方法设计。对于目标1，我们将进行定性，半结构化的个人访谈与60名年轻乳腺癌患者，15个亚组，并调查沟通偏好的WGS结果。根据这些定性数据，我们将为目标2制定一项调查。在目标2中，在对12名年轻乳腺癌患者的调查进行认知测试后，我们将对四个亚组中的865名年轻乳腺癌患者进行在线调查。我们将研究是否偏好WGS结果的通信因遗传学相关的信念，决策偏好，乳腺癌复发的担忧，信息规范和健康素养而异，这些都是具有强烈乳腺癌家族史且未发现BRCA 1/2突变的人群。我们还将比较四个亚组之间的沟通偏好，以定量研究家族史，已知的BRCA 1/2突变状态和基因检测的影响。这项研究是创新的，因为它的重点是经验问题的沟通WGS的结果之间的人口相关的WGS的早期应用。这些发现将是至关重要的，通过提高我们对如何将WGS结果传达给年轻乳腺癌患者的理解来改善患者护理。

DESCRIPTION (provided by applicant): Communication of whole genome sequencing (WGS) results to patients is a key ethical and psychosocial issue, but more work has focused on whether to communicate results than how. Young breast cancer patients (diagnosed at d 40 years) are a key population for early application of WGS to identify cancer susceptibility alleles and mutations affecting treatment response, particularly those with a strong family history of breast cancer who do not carry a known BRCA1/2 mutation. However, little is known about their communication preferences regarding the content and delivery of WGS results. Based on an integrated conceptual framework of risk information and processing, we will examine young breast cancer patients' communication preferences for WGS results (i.e., content, delivery format, information source, timing) and factors that may affect these preferences (i.e., genetics-related beliefs, decision-making preferences, breast cancer recurrence worry, informational norms, health literacy). We will recruit all participants through the nationwide Young Women's Breast Cancer Research Program, focusing on four subgroups: those with a strong breast cancer family history and no identified BRCA1/2 mutation; with no identified BRCA1/2 mutation and no or moderate family history; BRCA1/2 mutation and a strong family history; and a strong family history who have not received genetic testing. The specific aims are to: (1) investigate communication preferences for WGS results among young breast cancer patients; and (2) administer a survey to young breast cancer patients in order to examine (A) factors affecting communication preferences for WGS results among young breast cancer patients with a strong family history of breast cancer and no identified BRCA1/2 mutation and (B) compare communication preferences for WGS results among subgroups of young breast cancer patients. We will use a sequential mixed-methods design. For Aim 1, we will conduct qualitative, semi-structured individual interviews with 60 young breast cancer patients, 15 per subgroup, and investigate communication preferences for WGS results. Based on these qualitative data, we will develop a survey for Aim 2. In Aim 2, following cognitive testing of the survey with 12 young breast cancer patients, we will administer the survey online to 865 young breast cancer patients total in the four subgroups. We will examine whether preferences for communication of WGS results vary by genetics-related beliefs, decision-making preferences, breast cancer recurrence worry, informational norms, and health literacy among those with a strong breast cancer family history and no identified BRCA1/2 mutation. We will also compare communication preferences among the four subgroups in order to examine quantitatively the effects of family history, known BRCA 1/2 mutation status, and having had genetic testing. This study is innovative because of its focus on empirical questions related to communication of WGS results among a population relevant to early application of WGS. These findings will be critical in improving patient care by advancing our understanding of how to communicate WGS results to young breast cancer patients.