Patient perspectives on whole-genome sequencing for undiagnosed diseases

被引：8

作者：

Boeldt, Debra L. ^{[1
]}

Cheung, Cynthia ^{[2
]}

Ariniello, Lauren ^{[1
]}

Darst, Burcu F. ^{[1
]}

Topol, Sarah ^{[1
]}

Schork, Nicholas J. ^{[1
,3
]}

Philis-Tsimikas, Athena ^{[4
]}

Torkamani, Ali ^{[1
,5
]}

Fortmann, Addie L. ^{[4
]}

Bloss, Cinnamon S. ^{[1
,6
]}

机构：

[1] Scripps Hlth, Scripps Genom Med, Scripps Translat Sci Inst, La Jolla, CA USA

[2] Univ Calif San Diego, Qualcomm Inst Calit2, San Diego, CA 92103 USA

[3] Scripps Res Inst, Dept Mol & Expt Med, La Jolla, CA 92037 USA

[4] Scripps Whittier Diabet Inst, La Jolla, CA USA

[5] Scripps Res Inst, Dept Integrat Struct & Computat Biol, La Jolla, CA 92037 USA

[6] Univ Calif San Diego, Sch Med, Dept Psychiat, San Diego, CA 92103 USA

来源：

PERSONALIZED MEDICINE | 2017年 / 14卷 / 01期

关键词：

clinical sequencing; genetic testing; patient perceptions; precision medicine; qualitative data; rare diseases; undiagnosed diseases; whole-genome sequencing; INCIDENTAL FINDINGS; CLINICAL EXOME; RESEARCH PARTICIPANTS; ACMG RECOMMENDATIONS; MENDELIAN DISORDERS; AFRICAN-AMERICANS; RETURN; PROGRAM; ATTITUDES; AUTONOMY;

D O I：

10.2217/pme-2016-0050

中图分类号：

R9 [药学];

学科分类号：

1007 ;

摘要：

This study assessed perspectives on whole-genome sequencing (WGS) for rare disease diagnosis and the process of receiving genetic results. Semistructured interviews were conducted with adult patients and parents of minor patients affected by idiopathic diseases (n = 10 cases). Three main themes were identified through qualitative data analysis and interpretation: perceived benefits of WGS; perceived drawbacks of WGS; and perceptions of the return of results from WGS. Findings suggest that patients and their families have important perspectives on the use of WGS in diagnostic odyssey cases. These perspectives could inform clinical sequencing research study designs as well as the appropriate deployment of patient and family support services in the context of clinical genome sequencing.

引用

页码：17 / 25

页数：9

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