Purpose: An ever-increasing number of genetic tests are clinically available. Typically, disease incidence and severity, as well as the availability of an effective screening test, will culminate in “expert opinion” that testing for a given disorder should be recommended on a population basis, with no incorporation of evidence regarding the preferences of the target population. We sought to assess the perspective of reproductive-aged women regarding testing for several categories of genetic disorders.
Method: We interviewed women who had given birth to healthy infants within the past year. Sociodemographic information was collected by questionnaire, and preferences (utilities) for potential outcomes of prenatal testing for Down syndrome (DS), Fragile X (FraX), cystic fibrosis (CF), spinal muscular atrophy (SMA), phenylketonuria (PKU) and congenital heart defects (CHD) were elicited using the time trade-off metric. We also assessed attitudes toward screening tests, diagnostic tests and termination for affected pregnancies in the context of each of these conditions.
Result: 95 women aged 21 to 48 years participated, of whom 60% were Caucasian, 23% were Asian, 10% were Latina and 7% were African American. Most of the participants (82%) were college graduates. Most participants indicated that they would opt to have a screening test for each of these conditions (95-98% depending on the specific test), and the majority also indicated that they would have amniocentesis (64% for PKU to 72% for SMA). Inclinations regarding pregnancy termination varied substantially by condition: while only 10% of the participants indicated they would choose to terminate a pregnancy for CHD, 41% would be inclined to do so for DS and 62% for SMA. Utilities for having a child with these conditions ranged from 0.42 for SMA to 0.70 for CHD.
Conclusion: While most women in this cohort would choose to undergo screening for all of the conditions we presented to them, the majority would do so without intent to terminate an affected pregnancy. Women view treatable disorders (PKU, CHD) as preferable to those associated with intellectual disability (DS, FraX). Lethal disorders (SMA) or medical disorders with shortened life expectancy (CF) had the lowest utility. Data on preferences and utilities collected from diverse populations should be incorporated into policy decisions regarding prenatal genetic screening.