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。年轻乳腺癌患者（诊断为40岁）是早期应用WGS识别影响治疗反应的癌症易感等位基因和突变的关键人群，特别是那些具有强烈乳腺癌家族史且未携带已知BRCA1/2突变的患者。然而，他们对WGS结果的内容和传递的沟通偏好知之甚少。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，时间）以及可能影响这些偏好的因素（即遗传相关信念，决策偏好，乳腺癌复发担忧，信息规范，健康素养）。我们将通过全国青年女性乳腺癌研究计划招募所有参与者，重点关注四个亚组：具有强烈乳腺癌家族史且未发现BRCA1/2突变的人；未发现BRCA1/2突变，无或中度家族史；BRCA1/2突变和强烈的家族史；以及没有接受过基因检测的强烈家族史。具体目的是：(1)调查年轻乳腺癌患者对WGS结果的沟通偏好；(2)对年轻乳腺癌患者进行调查，以检验(a)具有强烈乳腺癌家族史且未发现BRCA1/2突变的年轻乳腺癌患者对WGS结果的交流偏好的影响因素；(B)比较不同亚组年轻乳腺癌患者对WGS结果的交流偏好。我们将使用顺序混合方法设计。在目的1中，我们将对60名年轻乳腺癌患者进行定性、半结构化的个人访谈，每个亚组15名，并调查WGS结果的沟通偏好。基于这些定性数据，我们将为目标2开发一项调查。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之后，我们将对四个亚组的865名年轻乳腺癌患者进行在线调查。我们将研究在有强烈乳腺癌家族史且未发现BRCA1/2突变的人群中，WGS结果的传播偏好是否会因遗传学相关信念、决策偏好、乳腺癌复发担忧、信息规范和健康素养而变化。我们还将比较四个亚组之间的交流偏好，以定量地检查家族史、已知BRCA 1/2突变状态和进行过基因检测的影响。这项研究具有创新性，因为它关注的是与早期应用WGS相关的人群中WGS结果传播相关的实证问题。这些发现将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，对改善患者护理至关重要。

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.