Views of the Public and Healthcare Professionals on Newborn Screening for Spinal Muscular Atrophy and the Potential for Detecting Adult-Onset Types in Patients-in-Waiting in Hong Kong

Abstract

<p>Background and aim: Spinal muscular atrophy (SMA) is an inherited neuromuscular disease. Although drugs are now available to treat patients with SMA, newborn screening (NBS) is essential for the early identification and treatment of affected babies. However, the attitudes towards NBS for SMA, particularly the adult-onset type, vary among different stakeholders. While supporters advocate for NBS due to early diagnosis and intervention, skeptics argue that the uncertainty about the severity and disease onset age can cause unnecessary parental and patient anxieties. This study aimed to explore the knowledge, attitudes, and perspectives of the general public and healthcare professionals regarding NBS for SMA in Hong Kong.</p><p>Methods: A prospective online quantitative questionnaire survey was conducted on the general public, healthcare professionals, and the SMA community aged 18 years or above between December 2022 and February 2023. Participants were asked 28 questions about their knowledge of SMA, views on implementing NBS, concerns about the possibility of detecting adult-onset SMA, and the time of treatment. Descriptive analysis by Microsoft Excel (Redmond, WA: Microsoft Corp.) was employed to determine the absolute frequencies and percentages of interviewees’ responses to each question of the questionnaire.</p><p>Results: We received a total of 223 responses, of which 165 (74%) were from the general public and 58 (26%) from healthcare professionals. The majority, 94.6%, were in favor of NBS for SMA, primarily due to the potential for immediate treatment for affected infants (90.5%, n=191). When considering the possibility that NBS results could indicate adult-onset SMA, 87.9% (n=196) expressed a desire to know their child's results and 80.7% (n=180) were comfortable with their parents being informed of their NBS findings.</p><p>Conclusions: Both the general public and healthcare professionals expressed support for the implementation of NBS for SMA in Hong Kong, believing that early diagnosis and intervention can improve the quality of life of SMA patients. Proper public health education is crucial to help individuals make informed decisions about NBS for SMA.</p>