Public Perceptions of the Benefits and Risks of Newborn Screening

Growing technological capacity and parent and professional advocacy highlight the need to understand public expectations of newborn population screening.

We administered a bilingual (French, English) Internet survey to a demographically proportional sample of Canadians in 2013 to assess preferences for the types of diseases to be screened for in newborns by using a discrete choice experiment. Attributes were: clinical benefits of improved health, earlier time to diagnosis, reproductive risk information, false-positive (FP) results, and overdiagnosed infants. Survey data were analyzed with a mixed logit model to assess preferences and trade-offs among attributes, interaction between attributes, and preference heterogeneity.

On average, respondents were favorable toward screening. Clinical benefits were the most important outcome; reproductive risk information and early diagnosis were also valued, although 8% disvalued early diagnosis, and reproductive risk information was least important. All respondents preferred to avoid FP results and overdiagnosis but were willing to accept these to achieve moderate clinical benefit, accepting higher rates of harms to achieve significant benefit. Several 2-way interactions between attributes were statistically significant: respondents were willing to accept a higher FP rate for significant clinical benefit but preferred a lower rate for moderate benefit; similarly, respondents valued early diagnosis more when associated with significant rather than moderate clinical benefit.

Members of the public prioritized clinical benefits for affected infants and preferred to minimize harms. These findings suggest support for newborn screening policies prioritizing clinical benefits over solely informational benefits, coupled with concerted efforts to avoid or minimize harms.