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Pediatricians' knowledge of and attitudes toward fragile X syndrome screening
Alex R Kemper1, Donald B Bailey
1Department of Pediatrics, Duke University Medical Center, Program on Pediatric Health Services Research, Durham, NC, USA. alex.kemper@duke.edu
Insights
Pediatricians support Fragile X syndrome (FXS) newborn screening, but education is needed on screening implications and carrier health. Further training will help integrate genomic tests into primary care.
Area of Science:
- Genomics and Genetic Screening
- Pediatric Healthcare
- Rare Disease Management
Background:
- Fragile X syndrome (FXS) screening presents challenges for rare genetic conditions, including carrier detection and the need for evidence on early intervention benefits.
- Assessing pediatrician knowledge and attitudes is crucial for effective implementation of genetic screening programs.
Purpose of the Study:
- To evaluate pediatricians' knowledge, experience, and attitudes regarding Fragile X syndrome (FXS) screening.
- To assess pediatrician perspectives on FXS screening within newborn screening and 12-month well-child visits.
Main Methods:
- A survey was mailed to 400 general pediatricians.
- Response rates and data on knowledge, experience, and attitudes toward FXS screening were analyzed.
Main Results:
- A 47% response rate was achieved. While most pediatricians knew FXS causes intellectual disability, awareness of female impact (53%) and carrier health issues (28%) was lower.
- Only 39% felt knowledgeable enough to discuss FXS with families. However, 78% believed newborn screening would be beneficial, and 55% supported offering screening during well-child care.
Conclusions:
- Pediatricians show strong support for newborn screening for Fragile X syndrome (FXS) and some support for screening during well-child visits.
- Education is essential to equip pediatricians to discuss screening implications and manage identified cases.
- This study provides a model for introducing genomic tests into primary care settings.
Background:
Fragile X syndrome (FXS) screening exemplifies the challenges of screening for rare genetic conditions, including the potential to detect carriers and the lack of evidence regarding the benefit of early intervention.
Objectives:
The aim of this study was to evaluate knowledge, experience, and attitudes of pediatricians toward FXS screening, either as part of newborn screening or at the 12-month well-child visit.
Methods:
Responses to survey mailings to 400 general pediatricians were analyzed.
Results:
The response rate was 47%. Although most (98%) reported knowing that FXS causes intellectual disability, only half (53%) knew that females could be affected and 28% knew that carriers can have health problems as adults. Only 39% reported knowing enough about FXS to discuss the condition with the family of a child who might have the condition. Most respondents (78%) believed that newborn screening for FXS would be beneficial for children and families. About half (55%) believed that parents should be offered FXS screening as part of well-child care. Few (8%) reported that they would not support FXS newborn screening or screening during well-child care because of carrier detection.
Conclusions:
Among respondents there is good support for FXS newborn screening and some support for FXS screening as part of well-child care. Prior to implementing screening, efforts are needed to educate pediatricians and assess their ability to inform parents about the implications of testing and provide care after the identification of FXS or carriers. These activities can serve as a model for how to introduce other genomic tests into the primary care setting.
