Genetic Test Evaluation: Information Needs of Clinicians, Policy Makers, and the Public

Abstract

Growing knowledge about gene-disease associations will lead to new opportunities for genetic testing. Many experts predict that genetic testing will become increasingly important as a guide to prevention, clinical management, and drug treatment based on genetic susceptibilities. As part of a Human Genetic Epidemiology workshop convened by the Centers for Disease Control and Prevention, a group of experts evaluated the evidence needed when considering the appropriate use of new genetic tests. Because new tests are likely to vary in their predictive value, their potential to direct prevention or treatment efforts, and their personal and social consequences, the task of determining appropriate use will require careful consideration of a variety of factors, including the analytic validity, clinical validity, clinical utility, and ethical, legal, and social implications of the test. Standardized formats are needed to summarize what is known and not known about new genetic tests with respect to each of these features. Following criteria for the objective assessment of test properties, reports should be structured to enable policy makers, clinicians, and the public to identify the available evidence, so that uncertainties can be taken into account when considering test use and planning future research.

Exploring the Public Understanding of Basic Genetic Concepts

“…These benefits, however, can be enhanced if people have an understanding of basic genetic concepts and terminology (Burke et al, 2002). Health care professionals will need to be better trained in human genetics (Suther & Goodson, 2003), and the National Coalition for Health Professional Education in Genetics exists to help in that endeavor (Collins & McKusick, 2001).…”

Some implications of genetic biomarkers in occupational epidemiology and practice

“…A model process for evaluating data on emerging genetic tests has been developed by the US Task Force on Genetic Testing (53) and more recently by a collaborative group sponsored by the US Centers for Disease Control and Prevention (CDC) (http://www.cdc.gov/genomics/info/perspectives/files/testACCE.htm) (54). This group, the ACCE core group, takes its name from the four components of evaluation-analytical validity, clinical validity, clinical utility, and ethical, legal, and social implications and safeguards.…”

Ethical issues in environmental health research.

“…Many environmental health researchers hope that new genetic technologies will permit identification of individuals and subpopulations at increased risk of developing environmentally associated illnesses (Burke et al 2002;Henry et al 2002). This capacity to identify susceptible subpopulations, should it become available, would introduce many new ethical and policy issues (Sharp and Barrett 2000).…”