Abstract

The long-term objective of this Pathway to Independence Award (K99/ROO) is to train to become an independent researcher in bioethics with a strong interdisciplinary foundation in genetics and epidemiology. My research plan is to characterize ethical and social issues in genetic studies of complex traits and evaluate how and whether they differ from those in genetic studies of Mendelian traits. This research will enable current and future complex disease researchers and policy makers to understand and address these issues proactively.
The specific aims of the Mentored Phase (K99) of this award are: 1) to obtain training in qualitative research methods, such as those used in cultural anthropology and oral history research, 2) to expand my training in ethics and my expertise in genetics, specifically current issues in genetics and ELSI issues from the genetics researcher perspective. These training goals will be accomplished through formal coursework and directed readings, participation in seminars and activities at the Stanford Center for Biomedical Ethics and the Department of Genetics, teaching activities and consultation with members of a multi-disciplinary advisory board. During the training period, I also will conduct pilot studies to ensure the successful transition to the Independent Investigator Phase of the award (ROD).
The specific aims of the Independent Investigator Phase (ROD) of this proposal are: 1) through semistructured interviews, characterize and analyze the perspectives of genetics and epidemiology researchers and research advocacy group leaders on ethical issues in conducting complex disease research and on the construction of the meaning of genetic data for complex disease risk and identity; 2) through analysis of data from pilot studies, focus groups and surveys, characterize and analyze the perspectives of participants in large studies of Parkinson's Disease and autism about ethical and social concerns, including consent, return of results, sharing of samples and data, the meaning of genetic data, and potential benefits and harms; 3) develop, implement and evaluate a protocol for an """"""""embedded ethicist"""""""" to work collaboratively with a team of researchers at the Veterans Affairs Cooperative Studies Program to proactively identify and address ethical and social issues in ongoing complex disease research.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Research Transition Award (R00)
Project #
4R00HG004316-02
Application #
7676305
Study Section
Special Emphasis Panel (NSS)
Program Officer
Lockhart, Nicole C
Project Start
2008-09-23
Project End
2011-08-31
Budget Start
2008-09-23
Budget End
2009-08-31
Support Year
2
Fiscal Year
2008
Total Cost
$239,331
Indirect Cost

  Institution

Name
Seattle Children's Hospital
Department
Type
DUNS #
048682157
City
Seattle
State
WA
Country
United States
Zip Code
98105

  Publications

Tabor, Holly K; Jamal, Seema M; Yu, Joon-Ho et al. (2017) My46: a Web-based tool for self-guided management of genomic test results in research and clinical settings. Genet Med 19:467-475
Yu, Bing; Pulit, Sara L; Hwang, Shih-Jen et al. (2016) Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk. Circ Cardiovasc Genet 9:64-70
Nelson, Sarah C; Crouch, Julia M; Bamshad, Michael J et al. (2016) Use of metaphors about exome and whole genome sequencing. Am J Med Genet A 170A:1127-33
Chong, Jessica X; Yu, Joon-Ho; Lorentzen, Peter et al. (2016) Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features. Genet Med 18:788-95
Auer, Paul L; Nalls, Mike; Meschia, James F et al. (2015) Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project. JAMA Neurol 72:781-8
Crouch, Julia; Yu, Joon-Ho; Shankar, Aditi G et al. (2015) ""We don't know her history, her background"": adoptive parents' perspectives on whole genome sequencing results. J Genet Couns 24:67-77
Chong, Jessica X; Burrage, Lindsay C; Beck, Anita E et al. (2015) Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. Am J Hum Genet 96:841-9
Chong, Jessica X; McMillin, Margaret J; Shively, Kathryn M et al. (2015) De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. Am J Hum Genet 96:462-73
McMillin, Margaret J; Beck, Anita E; Chong, Jessica X et al. (2014) Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. Am J Hum Genet 94:734-44
Smith, Joshua D; Hing, Anne V; Clarke, Christine M et al. (2014) Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis. Am J Hum Genet 95:235-40

Showing the most recent 10 out of 26 publications