Public attitudes regarding a pilot study of newborn screening for spinal muscular atrophy

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, 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, newborn screening 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

A Systematic Review of Approaches for Engaging Patients for Research on Rare Diseases

“…All studies were observational; none employed experimental or quasi-experimental designs. Eleven studies used qualitative or survey methods to obtain input from patients, 4,7,[18][19][20][21][22][23][24][25][26] and 17 studies were narrative reports describing one group's experiences with engagement. [27][28][29][30][31][32][33][34][35][36][37][38][39][40][41][42][43] The remaining seven studies were descriptions of specific initiatives reported on websites [44][45][46][47][48][49][50] ( Table 1 and Table 2).…”

“…cians. 20,38,39,47,49 Seven studies were classified as sufficiently descriptive 7,18,19,[23][24][25][26] The purposes of engagement included identifying patient-centered research topics or agendas, 19,23,29,36,39 identifying outcomes important to patients or developing measures relevant to patients' needs, 7,19,20,23,25,26 increasing recruitment or enrollment through development of patient-centered study designs, 4,18,21,24,27,30,31,41 and incorporating the patient perspective into study design 19,25,35,39,40 (Table 2, Table 3). Patients and other stakeholders were most commonly engaged in the preparatory stage (n= 19 for agenda setting) 4, 7, 19, 20, 23, 25, 28, 29, 32, 35, 36, 39- (Table 4 [online]).…”

“…Recruitment occurred through patient organizations, 19,23,27,35 clinics, 18 selfreferral on the internet, 48 or a recruiting agency. 24 No studies engaging patient organizations described how collaborations between research teams and these organizations were initiated.…”

“…Conversely, in four studies, patient organizations were engaged only for providing access to their members. 27,30,31,46 Four studies reported that patients or other stakeholders were prepared for engagement in research, ranging from an informational video 24 to in-person workshops; 21,40,48 none reported training researchers in engagement methods.…”

Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review

“…11,31,32 The idea of newborn screening has a high level of support among parents of children who have SMA and among expecting parents. 33,34 A long delay to diagnosis has been noted in other pediatric diseases as well. For example, a median delay of 1.4 months to 12.6 years from symptom onset to diagnosis has been noted in patients with Pompe disease, 35 whereas a delay of 6 months to more than 4 years has been documented in patients with Duchenne muscular dystrophy.…”