Public health impact of genetic tests at the end of the 20th century

Abstract

classified on the basis of their use for population-based testing and the prevalence of the disease or condition being tested. The GeneTests database divides the tests into two groups: those offered for clinical use and those available for research only. Results: Of the 423 clinical tests, 51 had potentially greater impact on public health because of their use in statewide newborn screening programs, other population screening programs, or testing for common diseases with a prevalence over 1 in 2,000 people. Among the 328 tests performed for research purposes only, 18 met the criteria for potentially greater public health impact. Conclusions: Our classification scheme indicated that fewer than 10% of the genetic tests listed in the GeneTests database at the end of 2000 are highly relevant to public health. The majority of genetic tests are used in diagnosis and/or genetic counseling for rare, single-gene disorders in a limited number of people. However, as more tests are being considered for newborn screening, and associations between genes and common diseases are being discovered, the impact of genetic testing on public health is likely to increase. Genet Med 2001:3(6):405-410.

Effect of Preventive Messages Tailored to Family History on Health Behaviors: The Family Healthware Impact Trial

“…1,2 Family history captures genetic and environmental components of disease, including shared cultures and behaviors. 3 The effi ciency of familial risk stratifi cation was shown in a Utahbased study reporting that 72% of coronary heart disease clustered in 14% of families, and 86% of strokes occurred in 11% of families.…”

Can family history be used as a tool for public health and preventive medicine?

“…To date, however, DNA-based testing is limited for the most part to analysis of highly penetrant single gene disorders that account for approximately 5% of the total disease burden in the population. 1,2 It may be years before DNA-based tests are routinely applied to predict the onset of common diseases, their natural history, and response to therapy.…”

Screening for Fragile X Syndrome: Parent attitudes and perspectives

“…Diagnostic technology has kept apace as over 400 genetic tests are available in clinical settings, with hundreds more available for research purposes. 1 This new genetic knowledge and technology have generated increased consumer interest in and demand for testing, and debates about who should be tested for what and when. [2][3][4] Discussions are now underway regarding the economic, social, and ethical benefits and risks of various genetic tests, and which ones should come under the auspices of public health and state newborn screening programs.…”

“…[2][3][4] Discussions are now underway regarding the economic, social, and ethical benefits and risks of various genetic tests, and which ones should come under the auspices of public health and state newborn screening programs. 1,5,6 Criteria used to determine which disorders are appropriate targets for screening have traditionally included the relative prevalence of the disorder, the availability of an accurate and cost-effective screening procedure, and evidence that screening results in a direct medical benefit to the identified individual. But as tests for more disorders become available, there have been calls from a number of fronts for an expansion of these criteria.…”