Review

Developing the Blueprint for a Genetic Testing Registry
G. Javitt, S. Katsanis, J. Scott, K. Hudson

Genetics and Public Policy Center, Berman Institute of Bioethics, Johns Hopkins University, Washington, D.C., USA

Address of Corresponding Author

Public Health Genomics (DOI: 10.1159/000226593)

  Key Words

• Clinical genetics
• Genetic testing
• Policy
• Registry

  Abstract

While the number of genetic tests continues to grow, publicly accessible information about the analytic and clinical validity of such tests is lagging. Information gaps impede informed decision making by health care providers and patients. Enhancing the transparency of information about what tests are being offered, for which indications tests are being offered, and the analytic and clinical validity of tests is a key prerequisite to ensuring test quality. A recent government recommendation for a mandatory genetic test registry has received wide stakeholder support but leaves many practical questions unanswered. We propose a 'blueprint' for the creation of a genetic test registry in order to expedite its implementation. We describe the goals of a registry, propose criteria for the inclusion of registrants and tests in the registry, and define the categories of information that should be included for such tests. We discuss the sources of legal authority that empower the government to mandate that a registry be established and identify the federal agencies with the relevant expertise and resources to do so. We conclude that establishing a registry is a critical first step in the development of a more transparent, quality-centered system of oversight that will better inform and protect the public.

Copyright © 2009 S. Karger AG, Basel

  Author Contacts

Gail Javitt
Genetics and Public Policy Center, Berman Bioethics Institute
Johns Hopkins University, 1717 Massachusetts Avenue NW, Suite 530
Washington, DC 20036 (USA)
Tel. +1 202 663 5971, Fax +1 202 663 5992, E-Mail gjavitt1@jhu.edu

  Article Information

Received: December 17, 2008
Accepted after revision: April 7, 2009
Published online: June 29, 2009
Number of Print Pages : 11
Number of Figures : 1, Number of Tables : 1, Number of References : 73