Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia.

Abstract

Integrating genomic sequencing into newborn screening (NBS) has transformative potential for the identification and management of genetic conditions. Using discrete choice experiment surveys, we elicited the preferences, values, and priorities of 2,509 members of the Australian public about the value (n = 1,504) and implementation (n = 1,005) of genomic NBS (gNBS). The Australian public demonstrated positive preference for gNBS, with 90% of respondents indicating an interest in gNBS results. Cost of screening was the most important attribute in people's decision about uptake of gNBS. Enabling diagnosis in more newborns increases the utility of gNBS. To enable these diagnoses, the public is willing to accept less restrictive models of gNBS in terms of the types of conditions included. However, there is disutility associated with including conditions that have less effective (or no) treatments available and including conditions with reduced penetrance. A gNBS program yielding 10-50 additional diagnoses per 1,000 newborns screened relative to standard NBS was valued by the Australian public at AU$4,600-$5,700 (US$2,990-$3,700) per newborn screened. Most participants (65%) preferred an opt-in type of consent and expressed a preference to receive high-chance results in person from a genetics professional, although telehealth and phone options were acceptable. Our findings should inform economic evaluation and future implementation for gNBS in the Australian and other healthcare systems.