Innovations in next-generation DNA sequencing technologies, accompanied by exponential drops in cost, have made it possible for clinicians to begin to use whole genome sequencing (WGS) to diagnose, treat, and predict disease. The extent to which WGS will improve health outcomes on a population level, however, will depend on effective oversight of its commercialization and use. The regulations that currently guide the administration of single-gene tests were not designed to address the tsunami of genomic information generated by WGS, and the uncertainties related to its interpretation, clinical utility and potential indications. New policy approaches may be required to establish a system that guarantees appropriate, broad access to high-quality sequence data and valid reports while encouraging innovation. The proposed research study, which responds directly to the program announcement PA-11-250, will begin to systematically prioritize and address the unique policy challenges involved in translating WGS into health benefits in the United States. This study will identify, prioritize and begin to address some of these policy questions using a modified Delphi process that iteratively engages a diverse group of stakeholders. An initial landscape analysis of the current and emerging WGS industry, enhanced by interviews with industry leaders about the future of clinical WGS, will serve as the basis for understanding how WGS fits into-and how it may disrupt-the current regulatory framework. This analysis will inform the drafting of an initial list of policy questions. A panel of 40 key stakeholders, drawn from the genomics industry, clinical laboratories, insurers, health care systems, providers and patient groups, will then be iteratively surveyed to add to and refine this list, and to prioritize the resulting issues by importance and tractability. Policy approaches to address three high-priority issues related to test quality and validity, insurance reimbursement, and intellectual property will then be developed. Through another series of stakeholder surveys, the research team will collect, refine and evaluate ideas which will be discussed by the stakeholder panel at an in-person meeting to identify areas of agreement and reasons for disagreement. Findings will be distributed to stakeholder and policy communities in concise, accessible formats with the goal of informing policy development. Policy briefings and follow-up meetings with select federal officials, Congressional members and staff will be used to begin focused dialogues on clinical WGS. This project will be among the first to use a collaborative, systematic approach to inform stakeholders and U.S. policymakers about policy priorities surrounding the newest generation of health care genomics. Importantly, it will result in concrete, pragmatic policy approaches developed by a diverse group of experts.

Public Health Relevance

Patients will soon be able to learn the sequence of their entire genome-all of the DNA they inherited-and share it with health care professionals to help prevent, diagnose, and select treatments for diseases. The laws that ensure that the public has access to high- quality genetic tests were crafted before sequencing the genome was possible. This study will begin to develop a system of rules to make sure that (1) the new DNA tests are reliable and explanations of the results are accurate, (2) that people have access to these tests through the healthcare system, and (3) that new innovation in the area is rewarded without sacrificing quality or access.

National Institute of Health (NIH)
Research Project (R01)
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Mcewen, Jean
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Baylor College of Medicine
Internal Medicine/Medicine
Schools of Medicine
United States
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Kaufman, David; Curnutte, Margaret; McGuire, Amy L (2014) Clinical integration of next generation sequencing: a policy analysis. J Law Med Ethics 42 Suppl 1:5-8
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Cook-Deegan, Robert; Chandrasekharan, Subhashini (2014) Patents and genome-wide DNA sequence analysis: is it safe to go into the human genome? J Law Med Ethics 42 Suppl 1:42-50
Curnutte, Margaret A; Frumovitz, Karen L; Bollinger, Juli M et al. (2014) Development of the clinical next-generation sequencing industry in a shifting policy climate. Nat Biotechnol 32:980-2
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