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Public attitudes regarding a pilot study of newborn screening for spinal muscular atrophy
Erin Rothwell1, Rebecca A Anderson, Kathryn J Swoboda
1College of Nursing, University of Utah, Salt Lake City, UT 84112, USA. erin.rothwell@nurs.utah.edu
Insights
Public support exists for pilot newborn screening programs for spinal muscular atrophy (SMA). An opt-out approach is favored, though public awareness of newborn screening and SMA requires improvement.
Area of Science:
- Genetics
- Public Health
- Bioethics
Background:
- Population-based pilot studies are crucial for evaluating new public health initiatives.
- Spinal muscular atrophy (SMA) is a rare genetic condition affecting motor neurons.
- Ethical, legal, and social implications (ELSI) guide the implementation of newborn screening programs.
Purpose of the Study:
- To assess public attitudes towards a pilot newborn screening program for SMA.
- To evaluate the acceptability of an opt-out consent model for population-based research.
- To understand parental decision-making regarding newborn screening.
Main Methods:
- Focus groups were conducted with the general public (N=70) in Colorado and Utah.
- An informational video on population-based research, newborn screening (NBS), consent models, and SMA was utilized.
- Participant attitudes towards the pilot study and opt-out approach were ascertained.
Main Results:
- Public support was found for pilot studies aligning with current practices.
- An opt-out approach for parental decision-making received support.
- Limited public knowledge was identified regarding population-based research, NBS, and SMA.
Conclusions:
- Pilot studies for newborn screening, like for SMA, are generally supported by the public.
- The opt-out model is acceptable, but enhanced public education is necessary.
- Addressing knowledge gaps is vital for informed parental decision-making in newborn screening initiatives.
Abstract:
A population-based pilot study of newborns screening for a rare genetic condition, spinal muscular atrophy (SMA), is being conducted with funding from the National Institutes of Health. The first component of the study is to assess the ethical, legal, and social implications of population-based pilot studies with a focus on public engagement and parental decision-making for the proposed opt-out approach in this research. We conducted focus groups with members of the general public to ascertain attitudes about the pilot study and acceptability of an opt-out approach in two states, Colorado and Utah, where the pilot screening is being proposed (N = 70). We developed an informational video for the project and showed it to the groups prior to the discussion in order to inform participants about population-based research, newborn screening (NBS), permission/consent models, and SMA. Results indicated support for the conduct of pilot studies that is consistent with the current standard of practice for similar population-based programs. There was support for an opt-out approach for parental decision-making; however there was limited parental knowledge about population-based research, NBS and SMA. In general, our participants considered this pilot study to be low risk and of potential benefit to infants and families. The majority of participants were supportive of an opt-out approach with information delivered through various avenues
