In this highly collaborative multi-disciplinary initiative, we propose to explore and compare the impact of using WGS in clinical conditions that model pure forms of each of these approaches. To model General Genomic Medicine, 10 primary care physicians and 100 of their healthy middle-aged patients will be enrolled. To model Disease-Specific Genomic Medicine, 10 cardiologists and 100 of their patients presenting with familial hypertrophic cardiomyopathy (HCM) will be enrolled. We will conduct an exploratory clinical trial randomizing physicians and their patients within each of these models to receive clinically meaningful information derived from WGS versus current standard of care. Project 1 will create standards for variant disclosure, enroll physicians and patients into the protocol and safely monitor the use of genomic information in clinical practice. Project 2 will sequence, analyze and interpret WGS for the physicians to use. And Project 3 will examine preferences and motivations of physicians and patients enrolled, evaluate the flow and utilization of genomic information within the clinical interactions, and assess understanding, behavior, medical consequences and healthcare costs associated with the use of WGS in these models of medical practice. This initiative will significantly accelerate the use of genomics into clinical medicine by creating and safely testing novel ways of integrating information from WGS into physician care of patients.

Public Health Relevance

Physicians will soon use WGS to derive insight into future health risks and inform prevention efforts in healthy patients and to interrogate particular sets o genes known to be associated with disease in patients presenting with a family history and symptoms. The results of this study will accelerate the use of genomics in clinical medicine by creating and testing ways to integrate WGS into physician care of patients.

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Research Project--Cooperative Agreements (U01)
Project #
1U01HG006500-01
Application #
8236471
Study Section
Special Emphasis Panel (ZHG1-HGR-N (O1))
Program Officer
Hindorff, Lucia
Project Start
2011-12-05
Project End
2015-11-30
Budget Start
2011-12-05
Budget End
2012-11-30
Support Year
1
Fiscal Year
2012
Total Cost
$2,410,752
Indirect Cost
$797,172
Name
Brigham and Women's Hospital
Department
Type
DUNS #
030811269
City
Boston
State
MA
Country
United States
Zip Code
02115
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