Expectations and values about expanded newborn screening: a public engagement study

Abstract

Objectives Newborn bloodspot screening (NBS) panels have expanded to include conditions for which treatment effects are less certain, creating debate about population-based screening criteria. We investigated Canadian public expectations and values regarding the types of conditions that should be included in NBS and whether parents should provide consent.Methods Eight focus groups (FG; n = 60) included education, deliberative discussion and pre-/post-questionnaires. Data were analysed quantitatively and qualitatively.Results Quantitatively, the majority supported NBS for serious disorders for which treatment is not available (95-98, 82%). A majority endorsed screening without explicit consent (77-88%) for treatable disorders, but 62% supported unpressured choice for screening for untreatable disorders. Qualitatively, participants valued treatment-related benefits for infants and informational benefits for families. Concern for anxiety, stigma and unwanted knowledge depended upon disease context and strength of countervailing benefits.Conclusions Anticipated benefits of expanded infant screening were prioritized over harms, with information provision perceived as a mechanism for mitigating harms and enabling ª

Consent for newborn screening: parents’ and health-care professionals’ experiences of consent in practice

“…There were few discernable differences in accounts across study sites, perhaps unsurprising as NBS proceeds as a standard of care in Canada, even if not legally mandated. 17,29 Results are consistent with a growing literature revealing very supportive parental views of NBS. 27,29,[35][36] It is important to appreciate that the majority of parents in NBS programs are 'satisfied customers': 37 most will receive screen negative results, and in the case of acceptance of screening, their understanding is not put to the test.…”

“…23,24 To date, the literature concerning consent and newborn screening has generally focused on attitudes toward consent policy. 7,[25][26][27][28][29] Although this is revealing, occasionally showing conflicting attitudes toward the need for consent, 6,30,31 there is a lack of descriptive research that depicts how the offer of NBS is made to parents, making it difficult to determine the experience of consent in practice. Understanding the experiences of those actually involved in the consent process may provide valuable descriptive information for NBS programs and providers.…”

Public views on participating in newborn screening using genome sequencing

“…Similar to previous reports, we found that a large majority of the public is committed to participating in current NBS programmes that identify known and treatable disorders. [19][20][21] However, the public's willingness to participate in NBS was reduced for untargeted WG/ES compared with targeted NBS using current technologies, as was the perception of a parental responsibility to participate. Our results suggest that integrating WG/ES into NBS in an untargeted manner might reduce public participation in NBS and challenge the moral authority that NBS programmes rely upon to ensure population benefits.…”

“…The questionnaire included background information on the principles of screening and the varied effects of NBS (for example, early diagnosis and treatment, reproductive-risk information, false-positive results and overdiagnosis) followed by quizzes, a discrete choice experiment and a reasoning exercise. The questionnaire was developed by a multidisciplinary team on the basis of our preceding qualitative studies 19,25 and a review of the literature, [26][27][28][29][30][31] and was pretested through face-to-face cognitive interviews (over three rounds with n ¼ 16) and piloted with members of the internet panel (n ¼ 87) to assess comprehension, face and content validity.…”

“…As a population screening programme offering demonstrable, life-saving clinical benefits to affected infants, 6 public support is critical for achieving the clinical benefits that NBS programmes seek for the population. Historically, NBS programmes have enjoyed high levels of public and parental support [19][20][21] and participation. 22,23 The unrestricted use of WG/ES might challenge the support upon which these programmes rely, as the scope and scale of incidental health information generated could shift the balance of clinical benefits and harms as well as the presumed obligation of parents to participate.…”