Carrier Screening for Cystic Fibrosis

Abstract

The cost-effectiveness of CF carrier screening depends greatly on couples' reproductive plans. CF carrier screening is most cost-effective when it is performed sequentially, when the information is used for more than one pregnancy, and when the intention of the couple is to identify and terminate affected pregnancies. These conclusions are important for policy considerations regarding population-based screening for CF, and may also have important implications for screening for less common diseases.

Prenatal screening for cystic fibrosis: an economic analysis

“…It would be of potential interest to analyse the full implications, including possible increase in cost of DNA analysis, of extending the sensitivity beyond 90%. An analysis by Asch et al [15] suggests that cost effectiveness may decrease significantly as mutation analysis is expanded.…”

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

“…This is broadly similar to the estimated discounted lifetime medical care costs of people living with CF (US$300,000 to US$500,000). 7,10,12,34 It also compares favorably with the cost per CF case detected via prenatal screening in the US (US$400,000 -$500,000 for non-Hispanic Caucasians and Ashkenazi Jewish), 34 and Denmark. 35 However, making similar cost comparisons for lives with TSD avoided would be more contentious than it is for CF; being untreatable and so rapidly fatal, lives with TSD may be relatively much less medically costly than lives with CF, but the severity of mental and physical effects (in the child affected and their parents) should, arguably, make the value of preventing TSD births much higher.…”

“…In studies of prenatal CF carrier screening, the treatment costs of affected children avoided have typically been deducted as savings made by the program. 7,10,12 Such estimates are invariably crude and also give no value to lives lived with CF. Further, applying a similar approach to TSD might-in a cost-effectiveness analytical framework that compares programs aimed at different genetic disorders-effectively value CF births avoided more highly than TSD births avoided (solely because of the greater health sector savings that they generate).…”

“…6 To date there have been few economic evaluations of genetic carrier screening, and most assess the value of prenatal screening (i.e., testing during pregnancy) as opposed to preconceptional population screening. Several economic evaluations of prenatal CF genetic carrier testing exist (i.e., testing of expecting couples), [7][8][9][10] and there is an early study of the resource implications of TSD carrier screening. 11 To our knowledge, a 1998 study in the Netherlands is the only one to assess the cost-effectiveness of both prenatal and school-based CF carrier screening.…”

The Cystic Fibrosis mutation “arms race”: when less is more

“…28 It has been known since the pilot studies that cost-effectiveness of a carrier screening program declines in proportion to the number of couples with an affected fetus who choose not to terminate the pregnancy (or even to be screened or tested). 29 Numerous surveys have documented these numbers to be much higher in the Hispanic-American and African American communities 30,31 because of cultural, religious, and economic factors, with specific adverse effects on the cost-effectiveness of CF carrier screening. 32,33 Until we have field data to counter these facts, it would seem premature to expend so much effort and expense, for uncertain ultimate benefit, in these carved-out populations.…”