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Newborn screening for Duchenne muscular dystrophy: the perspectives of stakeholders
Charli Ji1,2, Didu S Kariyawasam1,2, Hugo Sampaio1
1Department of Neurology, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.
Insights
Newborn bloodspot screening for Duchenne muscular dystrophy (DMD) offers benefits like early diagnosis and support access. However, healthcare systems must prepare for psychological impacts and evolving care models.
Area of Science:
- Genomic medicine
- Newborn screening
- Rare disease diagnostics
Background:
- Duchenne muscular dystrophy (DMD) diagnosis is evolving with genomic newborn bloodspot screening (NBS).
- The impact of DMD NBS on families and healthcare systems requires exploration.
Purpose of the Study:
- To assess perceived benefits, harms, barriers, and enablers of DMD NBS.
- To understand the perspectives of primary caregivers and healthcare professionals (HCPs).
Main Methods:
- Australian multi-centre cross-sectional study.
- Mixed-methods convergent design utilizing a co-developed questionnaire.
- Thematic analysis of perceptions regarding DMD NBS utility, care models, and processes.
Main Results:
- 80% of caregivers perceived net benefits, valuing early diagnosis for accessing care, trials, and planning.
- 61.5% of HCPs believed in net benefits but raised concerns about psychological harms without early disease-modifying therapies.
- Key benefits identified include accessing multidisciplinary care, clinical trials, psychological support, and informing reproductive/financial planning.
Conclusions:
- Caregivers and HCPs recognize potential benefits of DMD NBS.
- Integrated care models are crucial for supporting families with newborn DMD diagnoses and managing diagnostic uncertainty.
Background:
The rapidly evolving clinical landscape of Duchenne muscular dystrophy (DMD) is driving innovative approaches for early diagnosis through genomic newborn bloodspot screening (NBS). However, the potential impact of these programs on families and healthcare systems remains unexplored. This study assessed the perceived benefits, harms, barriers, and enablers for DMD NBS amongst primary caregivers of children with DMD and healthcare professionals (HCPs).
Methods:
This Australian multi-centre cross-sectional study used a mixed-methods convergent methodology. Participants completed a codeveloped questionnaire and their perceptions on the utility, model of care, and processes of DMD NBS were thematically analysed.
Findings:
Participants included 50 caregivers and 26 HCPs (68.5% and 53.1% response rate respectively). Most caregivers (40/50, 80%) perceived net benefits of DMD NBS and highlighted an early diagnosis as actionable knowledge, even with the current paucity of disease modifying therapies. This knowledge was valued to enable access to multidisciplinary supportive care (29/50, 58%), clinical trials (27/50, 54%), psychological support (28/50, 56%), inform reproductive planning (27/50, 54%), and facilitate financial planning based on the future needs of their child (27/50, 54%). Whilst HCPs acknowledged these opportunities, only 16/26 (61.5%) believed there were definite net benefits, with notable concerns over the psychological harms of diagnostic knowledge without a recourse to disease modifying therapeutic intervention early in life.
Interpretation:
Caregivers and HCPs perceived a range of potential benefits of DMD NBS. Health system readiness will be founded on developing an integrated model of care that not only supports the psychosocial and information needs of families receiving a newborn diagnosis of DMD, but also provides care and clinical surveillance for individuals for whom a diagnosis may remain uncertain.
Funding:
Medical Research Futures fund (GNT2017165, MRF2015965).
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