Predictive Genetic Testing: From Basic Research to Clinical Practice-Reference-Cited by-同舟云学术

Predictive Genetic Testing: From Basic Research to Clinical Practice

Published:1997-10-24 Issue:5338 Volume:278 Page:602-605
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Holtzman Neil A.¹,Murphy Patricia D.¹,Watson Michael S.¹,Barr Patricia A.¹

Affiliation:

1. N. A. Holtzman is with the Genetics and Public Policy Studies, Johns Hopkins Medical Institutions, 550 North Broadway, Suite 511, Baltimore, MD 21205, USA. P. D. Murphy is in the Department of Obstetrics and Gynecology, Albany Medical Center, Albany, NY 12208, USA. M. S. Watson is in the Departments of Pediatrics and Genetics, Washington University School of Medicine, St. Louis Children's Hospital, One Children's Place, St. Louis, MO 63110, USA. P. A. Barr is with Barr, Sternberg, and Moss, PC, 507...

Abstract

As increasing numbers of genes are identified and associated with human diseases, researchers are considering how to bring their discoveries from the research bench to the clinic. Holtzman, Murphy, Watson, and Barr, who were part of a Task Force on Genetic Testing sponsored by the National Institutes of Health and U.S. Department of Energy, discuss policies for regulating the development of genetic tests so that the full potential of gene discovery to help the general population can be realized.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference51 articles.

1. N. A. Holtzman Account. Res. 5 95 (1996). Headlines and news stories sometimes raise expectations of the clinical applications of new discoveries that cannot be fulfilled without additional study. See for example “Rare breast cancer link is tied to European-Jewish ancestry; discovery said to promise community screening test ” Los Angeles Times (news service) Baltimore Sun 29 September 1995 p. 3A; “Gene causing colon cancer found; discovery at Hopkins expected to save thousands of lives ” Baltimore Sun 6 May 1993 p. 1.

2. Public Law 100-578 Clinical Laboratory Improvement Amendments of 1988 42 USC 263a et seq.

3. Although the FDA has stated that genetic tests fall under its regulatory authority as “medical devices ” the agency has chosen only to regulate clinical laboratory tests marketed as kits or other tangible products not those marketed as services.

4. Sensitivity is the probability that people who have or will develop a disease can be detected by the test. PVP is the probability that a person with a positive test result will develop the disease the test is designed to detect. Often a test can be used for other purposes (off-label use). For example in addition to being used predictively to detect those at risk of the Li-Fraumeni syndrome a test for p53 mutations can be used to diagnose the syndrome in individuals with cancer and a suggestive family history or to stage a tumor by detecting somatic p53 mutations. The requirements for sensitivity and PVP could differ depending on the intended use.

5. Analytical validity is the ability of the test to correctly identify the analyte it is designed to detect. In the CLIA certification process a clinical laboratory must demonstrate the tests' analytical validity to outside surveyors who inspect laboratories approximately every 2 years.

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