PGD for all cystic fibrosis carrier couples: novel strategy for preventive medicine and cost analysis

Abstract 

Over 1000 children affected with cystic fibrosis (CF) are born annually in the USA. Since IVF with preimplantation genetic diagnosis (PGD) is an alternative to raising a sick child or to aborting an affected fetus, a cost–benefit analysis was performed for a national IVF–PGD program for preventing CF. The amount spent to deliver healthy children for all CF carrier-couples by IVF–PGD was compared with the average annual and lifetime direct medical costs per CF patient avoided. Treating annually about 4000 CF carrier-couples with IVF–PGD would result in 3715 deliveries of non-affected children at a cost of $57,467 per baby. Because the average annual direct medical cost per CF patient was $63,127 and life expectancy is 37 years, savings would be $2.3 million per patient and $2.2 billion for all new CF patients annually in lifetime treatment costs. Cumulated net saving of an IVF–PGD program for all carrier-couples for 37 years would be $33.3 billion. A total of 618,714 cumulative years of patients suffering because of CF and thousands of abortions could be prevented. A national IVF–PGD program is a highly cost-effective novel modality of preventive medicine and would avoid most births of individuals affected with debilitating genetic disease.

Preimplantation Genetic Diagnosis (PGD) can be used to diagnose embryos affected with genetic disorders prior to conception. For 80% of the couples at risk for passing on genetic diseases to their children, PGD is a preferred option compared to prenatal testing, aborting an affected fetus, or raising a sick child. PGD is performed with in-vitro fertilization (IVF) and the embryos that are tested normal are transferred into the uterus. This study evaluates the potential benefits of implementing a national IVF-PGD program to prevent annually the conception and birth of ∼1,000 babies affected with Cystic Fibrosis (CF), the most prevalent, incurable, life-shortening, severe genetic disease among Caucasians. Based on a comparison to the direct medical costs that would have otherwise been expended in treating those patients, offering IVF-PGD to all CF carrier-couples is extremely cost effective and can save billions of dollars in health care expenses. Because of the high medical costs per CF patient, it is estimated that over their current life expectancy of 37 years, $2.2 billion could be saved in the US per year for ∼1,000 healthy children born by IVF-PGD. The cumulated net savings of an IVF-PGD program for all carrier-couples for 37 years would be $33 billion. Since the couples will have healthy children instead of sick ones, 618,000 cumulative years of hardship will be avoided and thousands of abortions will be prevented. Similar to vaccination, a national IVF-PGD program is a highly cost effective novel strategy of modern preventive medicine.

Keywords: assisted reproductive technology, cost–benefit analysis, cystic fibrosis, in-vitro fertilization, national health, preimplantation genetic diagnosis