Henrikson Nora B, Blasi Paula R, Fullerton Stephanie M, Grafton Jane, Leppig Kathleen A, Jarvik Gail P, Larson Eric B
Kaiser Permanente Washington Health Research Institute, Seattle, WA, USA.
Department of Bioethics and Humanities, School of Medicine, University of Washington, Seattle, WA, USA.
J Community Genet. 2019 Oct;10(4):461-470. doi: 10.1007/s12687-019-00412-z. Epub 2019 Mar 6.
Assess the feasibility and acceptability of health system-led genetic risk notification in a US integrated health system. We conducted semi-structured phone interviews with individuals age 40-64 years who had undergone genetic sequencing, but had not yet received their results, assessing attitudes to direct outreach to relatives. During each interview, we collected contact information for adult relatives identified as members of the same system and attempted to identify each relative in administrative data. We conducted 20 interviews. Most participants expressed support for Kaiser Permanente Washington involvement in familial risk notification. Direct outreach to relatives received the most unqualified support; outreach to the relatives' physician or interaction with the relatives' electronic medical record received more tempered support. Support was motivated by the desire to have risk communicated accurately and quickly. The most common caveat was a desire to alert relatives before the health system contacted them. Of 57 named relatives who were members of the same health system, we retrieved a single match for 40 (70.2%) based on name or birthdate. Health system involvement in familial risk notification received support in a sample of patients in a US integrated health system, and identification of relatives is feasible.
评估美国综合医疗系统中由医疗系统主导的基因风险告知的可行性和可接受性。我们对40至64岁已接受基因测序但尚未收到结果的个体进行了半结构化电话访谈，评估他们对直接联系亲属的态度。在每次访谈中，我们收集了被确定为同一系统成员的成年亲属的联系信息，并试图在行政数据中识别每位亲属。我们进行了20次访谈。大多数参与者表示支持凯撒医疗集团华盛顿分部参与家族风险告知。直接联系亲属得到了最无条件的支持；联系亲属的医生或与亲属的电子病历互动得到的支持则较为有限。支持的动机是希望风险能被准确、迅速地传达。最常见的附加条件是希望在医疗系统联系亲属之前先提醒他们。在57名被提及的属于同一医疗系统的亲属中，我们根据姓名或出生日期成功匹配到了40名（70.2%）。在美国综合医疗系统的患者样本中，医疗系统参与家族风险告知得到了支持，并且识别亲属是可行的。
