SACGT Initiates Genetic Test Standards and Education Template

By Sharon Olsen, MS, RN

The Secretary's Advisory Committee on Genetic Testing (SACGT) was chartered to advise the Department of Health and Human Services on the medical, scientific, ethical, legal, and social issues raised by the development and use of genetic tests. SACGT recently completed its first report, "Enhancing the Oversight of Genetic Tests"; (full text available at http://www4.od.nih.gov/oba/sacgt.htm) and developed a fact sheet template on genetic tests for health professionals.

The Oversight Report: Outcomes in Brief

According to GeneTests, a genetic testing laboratory directory, genetic testing is clinically available for more than 400 diseases or conditions in more than 200 laboratories in the U.S., and investigators are exploring the development of tests for an additional 338 diseases or conditions. SACGT has broadly defined the scope of genetic testing: (1) An analysis performed on human DNA, RNA, genes, and/or chromosomes to detect heritable or acquired genotypes, mutations, phenotypes, or karyotypes that cause or are likely to cause a specific disease or condition; and (2) The analysis of human proteins and certain metabolites, which are predominately used to detect heritable or acquired genotypes, mutation, or phenotypes. The purposes of genetic tests include predicting risk of disease, newborn screening, directing clinical management, identifying carriers, and establishing prenatal or clinical diagnoses or prognoses in individuals, families, or populations.

SACGT was asked to assess whether current programs for assuring the accuracy and effectiveness of genetic tests are satisfactory or whether other measures are needed. The Committee examined the existing system of oversight of genetic tests. Currently genetic tests are regulated at the federal level through three mechanisms: (1) the Clinical Laboratory Improvement Amendments (CLIA), (2) the Federal Food, Drug and Cosmetic Act, and during investigational phases, (3) the Federal Policy for the Protection of Human Subjects. Four DHHS organizations currently have oversight of genetic tests: CDC, FDA, HCFA, and the Office for Human Research Protection.

The Committee concluded its work with recommendations in five areas. (1) They identified four criteria - analytical validity, clinical validity, clinical utility, and social consequences - that could be used to assess the benefits and risks of a genetic test. (2) They proposed the development of guidelines, perhaps an algorithm, for reviewing and classifying genetic tests. (3) They concluded that data on test validity, safety and efficacy should be rigorously collected before and after the test is marketed. Additionally, data should be available for public scrutiny, and adequate protections for the privacy of individual information is essential. (4) They suggested several ways to improve current oversight of genetic tests and (5) they proposed a mechanism for reviewing the evidence for moving genetic tests from research to clinical practice.

Template of Genetic Test Information - Input Needed

A SACGT working group, has proposed a template for the development of professional education fact sheets for each genetic test developed. Each fact sheet would address what is known about the test in seven areas: purpose of the test; clinical condition for which the test is performed; definition of the test; analytical validity, clinical validity, and clinical utility of the test; cost of the test and billing/reimbursement information. An in-depth explanation of each area is available for review at the SACGT Web site cited at the beginning of this article. Comments from clinicians and researchers regarding the usefulness and dissemination of this information are actively encouraged through January 31, 2001.