Application of benefit‐to‐cost analysis to an X‐linked recessive cardiac and humeroperoneal neuromuscular disease

Abstract

Benefit-to-cost analysis (using standard economic methods) and the predictive tools of genetics are important in the assessment of genetic services for high burden, single gene disorders. We have studied 6 generations of a 167-member, stable, North Georgia kindred at risk for X-linked recessive humeroperoneal neuromuscular disease with cardiac conduction defects. This disorder began in affected males in the teen years, with total disability expected by the 3rd decade and death by age 50. Using known fecundity rates and Mendelian probabilities, 26.6 heterozygous females and 9.4 hemizygous affected males were expected in the currently developing generation. We compared the compensatory costs for families with affected males against costs of genetic intervention for this disorder. All costs and benefits were discounted to present values at 6% and 10% and a benefit-to-cost ratio was derived. At a 6% discount rate the benefit-to-cost ratio was 21 to 1 while at a 10% discount rate the benefit-to-cost ratio was 14 to 1. We conclude that although this is an unusual X-linked muscular dystrophy, it constitutes a prototypic public and private expense which is largely preventable. The method of cost accounting within pedigrees has wide applicability. The results reemphasize the economic benefit of comprehensive public health programs in genetics, particularly in areas with stable, high risk-populations.

A cost‐benefit analysis of prenatal detection of down syndrome and neural tube defects in older mothers

“…grammes [3,4]. In the field of clinical genetics, CBA has been applied to maternal serum alpha fetoprotein screening [5,6], prenatal detection of males in a large pedigree with X-linked recesssive cardiac and humeroperoneal neuromuscular disease [7], and prenatal diagnosis of Down syndrome [8-151.…”