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Neonatal screening for treatable and untreatable disorders: prospective parents' opinions
Anne Marie Catharina Plass1, Carla Geertruida van El, Toine Pieters
1Department of Clinical Genetics, Community Genetics, VU University Medical Center and EMGO Institute for Health and Care Research, Amsterdam, Netherlands. amc.plass@vumc.nl
Insights
Prospective parents support expanding newborn screening to include untreatable disorders, contrary to current Dutch policy. They prioritize preventing lengthy diagnostic odysseys for rare childhood conditions.
Area of Science:
- Medical Genetics
- Public Health Policy
- Parental Decision-Making
Background:
- The Dutch national newborn screening program expanded in 2007 to include 17 disorders based on WHO criteria, prioritizing treatability.
- Decisions on adding new screening targets typically rely on expert advice, overlooking prospective parents' views.
- This study addresses the gap in understanding parental perspectives on screening for incurable yet treatable, or untreatable, childhood-onset disorders.
Purpose of the Study:
- To investigate prospective parents' opinions on including less treatable and untreatable childhood-onset disorders in the national newborn screening program.
- To compare parental attitudes towards screening for disorders with varying degrees of treatability.
Main Methods:
- A structured, three-part online questionnaire was distributed via a national pregnancy fair website.
- Questions addressed attitudes towards screening for treatable, less treatable, and untreatable childhood-onset disorders.
- Data were collected from prospective parents regarding their views on expanding newborn screening criteria.
Main Results:
- 1631 prospective parents completed the survey; 259 were excluded.
- A significant majority favored including less treatable (88%) and untreatable (73%) disorders in newborn screening.
- Parents with existing children were more supportive of screening for untreatable disorders, primarily to avoid prolonged diagnostic journeys.
Conclusions:
- Prospective parents in the Netherlands express interest in newborn screening for untreatable childhood-onset disorders.
- The findings suggest a need for broader societal discussion involving policymakers, healthcare professionals, and consumers on the implications of expanded screening.
- Parental input is valuable in shaping public health policies for newborn screening programs.
Objective:
In the Netherlands, in 2007, the national newborn screening program was expanded from 3 to 17 disorders that met the World Health Organization's Wilson and Jungner screening criteria, especially regarding treatability. The decision of whether to add diseases to the program is generally based on experts' advice, whereas the opinion of those whom it concerns--prospective parents--remains unknown. In this study, we investigated the opinion of prospective parents concerning newborn screening for disorders that are incurable yet treatable to some extent or even untreatable.
Methods:
A structured questionnaire that consisted of 3 parts in which similar questions were posed about treatable, less treatable, and untreatable childhood-onset disorders was posted on the Web site of a national pregnancy fair.
Results:
A total of 1631 prospective parents filled out the questionnaire, 259 of whom were excluded. In contrast to current policy, respondents showed a positive attitude toward inclusion of less treatable (88%) or untreatable childhood-onset disorders (73%) within the national newborn screening program. Respondents who already had children at the time of completing the questionnaire were even more in favor of screening for especially untreatable disorders. The most important reason mentioned was to prevent a long diagnostic quest. Obtaining information to enable reproductive choices in future pregnancies was hardly mentioned.
Conclusions:
Prospective parents in the Dutch population seem interested in newborn screening for untreatable childhood-onset disorders; therefore, we argue that additional debate of pros and cons is needed among policy makers, health care professionals, and consumers.
