Genetic screening for reproductive planning: methodological and conceptual issues in policy analysis.

Abstract

OBJECTIVES: This paper explores several critical assumptions and methodological issues arising in cost-effectiveness analyses of genetic screening strategies in the reproductive setting. METHODS: Seven issues that arose in the development of a decision analysis of alternative strategies for cystic fibrosis carrier screening are discussed. Each of these issues required a choice in technique. RESULTS: The presentations of these analyses frequently mask underlying assumptions and methodological choices. Often there is no best choice. In the case of genetic screening in the reproductive setting, these underlying issues often touch on deeply felt human values. CONCLUSIONS: Space limitations for published papers often preclude explaining such choices in detail; yet these decisions determine the way the results should be interpreted. Those who develop these analyses need to make sure that the implications of important assumptions are understood by the clinicians who will use them. At the same time, clinicians need to enhance their understanding of what these models truly mean and how they address underlying clinical, ethical, and economic issues.

Screening for Fragile X Syndrome: Parent attitudes and perspectives

“…Current screening principles do not promote testing for carrier status of children, for genetic disorders for which no medical cure or proven intervention exists, or for carrier screening for the purpose of informing reproductive decisions. 2,27,33 Traditional principles of newborn screening are currently being challenged due to the availability of molecular genetic analyses and tandem mass spectrometry (MS/MS) that allow screening for numerous disorders. [33][34][35] As these tests become commercialized through private laboratories and publicized through the media, consumer demands increase for expanded state screening programs.…”

Genetic screening for cystic fibrosis: An overview of the science and the economics

“…These conclusions are also supported in Asch et al [31]. However, in Denmark, Nielsen and Gyrd-Hansen [32] carried out a cost-effectiveness analysis which found that introducing a prenatal screening programme could be net cost saving from both a societal and health service perspective, whether or not a replacement child is born.…”

“…Asch and colleagues [31] carried out a cost-effectiveness analysis that compared 15 different carrier screening strategies to no screening. The authors used CF births avoided as an outcome measure.…”

Cost-effectiveness of a school-based Tay-Sachs and cystic fibrosis genetic carrier screening program

“…Genetic carrier screening conducted preconceptionally produces information that may be used to influence reproductive behavior; at-risk couples can avoid having affected children by not having children, by using assisted reproduction techniques, or by terminating affected pregnancies. 32 Measuring or estimating the number of genetic carriers detected preconceptionally is thus an intermediate measure of potential health benefits. Nor does it capture or value the benefits of avoiding affected births, the value of making more informed reproductive choices, or any "reassurance value" for people knowing they are not a carrier.…”