Public support for neonatal screening for Pompe disease, a broad-phenotype condition

Abstract

Background: Neonatal screening for Pompe disease has been introduced in Taiwan and a few U.S. states, while other jurisdictions including some European countries are piloting or considering this screening. First-tier screening flags both classic infantile and late-onset Pompe disease, which challenges current screening criteria. Previously, advocacy groups have sometimes supported expanded neonatal screening more than professional experts, while neutral citizens' views were unknown. This study aimed to measure support for neonatal screening for Pompe disease in the general public and to compare it to support among (parents of) patients with this condition. The study was done in the Netherlands, where newborns are not currently screened for Pompe disease. Newborn screening is not mandatory in the Netherlands but current uptake is almost universal.

Methods: A consumer panel (neutral group) and (parents of) patients with Pompe disease (Pompe group) were sent information and a questionnaire. Responses were analyzed of 555 neutral and 58 Pompe-experienced informants who had demonstrated sufficient understanding.

Results: 87% of the neutral group and 88% of the Pompe group supported the introduction of screening (95% CI of difference -10 to 7%). The groups were similar in their moral reasoning about screening and acceptance of false positives, but the Pompe-experienced group expected greater benefit from neonatal detection of late-onset disease. Multivariate regression analysis controlling for demographics confirmed that approval of the introduction of screening was independent of having (a child with) Pompe disease. Furthermore, respondents with university education, regardless of whether they have (a child with) Pompe disease, were more likely to be reluctant about the introduction of screening than those with less education, OR for approval 0.29 (95% CI 0.18 to 0.49, p < 0.001).

Conclusions: This survey suggests a rather high level of support for newborn screening for Pompe disease, not only among those who have personal experience of the disease but also among the general public in the Netherlands. Optional screening on the basis of informed parental consent is probably unrealistic, underlining the need for new guidelines to help policymakers in their consideration of newborn screening for broad phenotype conditions.

Figure 1

Valuation of various moral reasons to screen (or not to screen): comparison of neutral and Pompe groups. Top: importance of reasons to screen¹. Bottom: Importance of reasons not to screen². Open squares = Pompe group, solid squares = neutral group. ¹Mean scores of 3-point scale, starting at 1 'unimportant'. Items in top figure had between 10 and 13 missing values. P values of exact chi square test for trend: clockwise, starting at chance for better quality of life child: 0.409, 0.304, 0.665, 0.624, 0.317. ²Items in bottom figure had 18 to 27 missing values. P values of (*exact) chi square test for trend: clockwise, starting at test result too burdensome for child: 0.290, 0.228, 0.410, 0.003, 0.661*.

Figure 2

Decisive moral reason to use (or not to use) screening by neutral group. Top: probable users of screening¹. Bottom: probable non-users of screening². See text for missing value analyses. ¹Moral reasons given by 412 of 465 probable users. ²Moral reasons given by 65 of 72 probable non-users.