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

Weinreich SS, Rigter T, van El CG, Dondorp WJ, Kostense PJ, van der Ploeg AT, Reuser AJ, Cornel MC, Hagemans ML - Orphanet J Rare Dis (2012)

Bottom Line: Responses were analyzed of 555 neutral and 58 Pompe-experienced informants who had demonstrated sufficient understanding. 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.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.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Clinical Genetics and Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands. s.weinreich@vumc.nl

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.

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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.
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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.

Mentions: For the neutral group the questionnaire tried to force a choice for the decisive reason why one would probably (not) use screening (Figure 2). Among probable users of screening the most commonly reported, decisive reasons to use screening were chance for a better quality of life for the child and chance of health gain for the child (Figure 2, top). Analysis of missing values (53 of 465 potential informants, 11%) showed that the lower the educational level, the likelier it was that the respondent did not report a decisive reason to use screening (p = 0.006, chi square test for trend). Among probable non-users of screening, the most commonly reported reason was that screening adds insufficient quality of life for children, followed closely by other reasons (Figure 2, bottom). Analysis of missing values (7 of 72 potential informants, 10%) did not reveal any patterns.


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

Weinreich SS, Rigter T, van El CG, Dondorp WJ, Kostense PJ, van der Ploeg AT, Reuser AJ, Cornel MC, Hagemans ML - Orphanet J Rare Dis (2012)

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.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3351372&req=5

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.
Mentions: For the neutral group the questionnaire tried to force a choice for the decisive reason why one would probably (not) use screening (Figure 2). Among probable users of screening the most commonly reported, decisive reasons to use screening were chance for a better quality of life for the child and chance of health gain for the child (Figure 2, top). Analysis of missing values (53 of 465 potential informants, 11%) showed that the lower the educational level, the likelier it was that the respondent did not report a decisive reason to use screening (p = 0.006, chi square test for trend). Among probable non-users of screening, the most commonly reported reason was that screening adds insufficient quality of life for children, followed closely by other reasons (Figure 2, bottom). Analysis of missing values (7 of 72 potential informants, 10%) did not reveal any patterns.

Bottom Line: Responses were analyzed of 555 neutral and 58 Pompe-experienced informants who had demonstrated sufficient understanding. 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.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.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Clinical Genetics and Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands. s.weinreich@vumc.nl

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.

Show MeSH
Related in: MedlinePlus