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OBJECTIVES: Evidence is mixed regarding the impact of false-positive (FP) newborn bloodspot screening (NBS) results on health care use. Using cystic fibrosis (CF) as an example, we determined the association of FP NBS results with health care use in infants and their mothers in Ontario, Canada. METHODS: We conducted a population-based cohort study of all infants with FP CF results (N = 1564) and screen-negative matched controls (N = 6256) born between April 2008 and November 2012 using linked health administrative data. Outcomes included maternal and infant physician and emergency visits and inpatient hospitalizations from the infant's third to 15th month of age. Negative binomial regression tested associations of NBS status with outcomes, adjusting for infant and maternal characteristics. RESULTS: A greater proportion of infants with FP results had >2 outpatient visits (16.2% vs 13.2%) and >2 hospital admissions (1.5% vs 0.7%) compared with controls; CF-related admissions and emergency department visits were not different from controls. Differences persisted after adjustment, with higher rates of outpatient visits (relative risk 1.39; 95% confidence interval 1.20-1.60) and hospital admissions (relative risk 1.67; 95% confidence interval 1.21-2.31) for FP infants. Stratified models indicated the effect of FP status was greater among those whose primary care provider was a pediatrician. No differences in health care use among mothers were detected. CONCLUSIONS: Higher use of outpatient services among FP infants may relate to a lengthy confirmatory testing process or follow-up carrier testing. However, increased rates of hospitalization might signal heightened perceptions of vulnerability among healthy infants. [ABSTRACT FROM AUTHOR]

BACKGROUND: The risk of psychosocial harm in families of infants with false-positive (FP) newborn bloodspot screening (NBS) results for cystic fibrosis (CF) is a longstanding concern. Whether well designed retrieval and confirmatory testing systems can mitigate risks remains unknown. METHODS: Using a mixed-methods cohort design, we obtained prospective self-report data from mothers of infants with FP CF NBS results 2 to 3 months after confirmatory testing at Ontario's largest follow-up center, and from a randomly selected control sample of mothers of screen negative infants from the same region. Mothers completed a questionnaire assessing experience and psychosocial response. A sample of mothers of FP infants completed qualitative interviews. RESULTS: One hundred thirty-four mothers of FP infants (response rate, 55%) and 411 controls (response rate, 47%) completed questionnaires; 54 mothers of FP infants were interviewed. Selected psychosocial response measures did not detect psychosocial distress in newborns or 1 year later (P > .05). Mothers recalled distress during notification of the positive result and in the follow-up testing period related to fear of chronic illness, but valued the screening system of care in mitigating concerns. CONCLUSIONS: Although immediate distress was reported among mothers of FP infants, selected psychometric tools did not detect these concerns. The NBS center from which mothers were recruited minimizes delay between notification and confirmatory testing and ensures trained professionals are communicating results and facilitating follow-up. These factors may explain the presence of minimal psychosocial burden. The screening system reflected herein may be a model for NBS programs working to minimize FP-related psychosocial harm. [ABSTRACT FROM AUTHOR]

OBJECTIVES: Retaining residual newborn screening (NBS] bloodspots for medical research remains contentious. To inform this debate, we sought to understand public preferences for, and reasons for preferring, alternative policy options. METHODS: We assessed preferences among 4 policy options for research use of residual bloodspots through a bilingual national Internet survey of a representative sample of Canadians. Fifty percent of respondents were randomly assigned to select reasons supporting these preferences. Understanding of and attitudes toward screening and research concepts, and demographics were assessed. RESULTS: Of 1102 respondents (94% participation rate; 47% completion rate], the overall preference among policy options was ask permission (67%]; this option was also the most acceptable choice (80%]. Assume permission was acceptable to 46%, no permission required was acceptable to 29%, and no research allowed was acceptable to 26%. The acceptability of the ask permission option was reduced among participants assigned to the reasoning exercise (84% vs 76%; P = .004]. Compared with assume/no permission required, ordered logistic regression showed a significant reduction in preference for the ask permission option with greater understanding of concepts (odds ratio, 0.87; P < .001], greater confidence in science (odds ratio, 0.16; P < .001], and a perceived responsibility to contribute to research (odds ratio, 0.39; P < .001]. CONCLUSIONS: Surveyed Canadians prefer that explicit permission is sought for storage and research use of NBS bloodspots. This preference was diminished when reasons supporting and opposing routine storage, and other policy options, were presented. Findings warrant consideration as NBS communities strategize to respond to shifting legislative contexts. [ABSTRACT FROM AUTHOR]

Background: Rapid genome-wide sequencing (rGWS) is being increasingly used to aid in prognostication and decision-making for critically ill newborns and children. Although its feasibility in this fast-paced setting has been described, this new paradigm of inpatient genetic care raises new ethical challenges., Objective: A scoping review was performed to (1) identify salient ethical issues in this area of practice; and (2) bring attention to gaps and ethical tensions that warrant more deliberate exploration., Methods: Data sources, Ovid Medline and Cochrane Central Register of Controlled Trials, were searched up to November 2021. Articles included were those in English relating to rGWS deployed rapidly in a critical care setting. Publications were examined for ethical themes and were further characterized as including a superficial or in-depth discussion of that theme. New themes were inductively identified as they emerged., Results: Ninety-nine studies, published in 2012 or thereafter, met inclusion criteria. Themes identified elaborated upon established ethical principles related to beneficence and nonmaleficence (ie, clinical utility, medical uncertainty, impact on family, and data security) autonomy (ie, informed consent), and justice (ie, resource allocation and disability rights). Many themes were only narrowly discussed., Conclusions: The application of rGWS in neonatal and pediatric acute care is inherently tied to ethically charged issues, some of which are reported here. Attention to the ethical costs and benefits of rGWS is not always discussed, with important gaps and unanswered questions that call for ongoing focus on these ethical considerations in this next application of acute care genomics., (Copyright © 2022 by the American Academy of Pediatrics.)

Background: Growing technological capacity and parent and professional advocacy highlight the need to understand public expectations of newborn population screening., Methods: We administered a bilingual (French, English) Internet survey to a demographically proportional sample of Canadians in 2013 to assess preferences for the types of diseases to be screened for in newborns by using a discrete choice experiment. Attributes were: clinical benefits of improved health, earlier time to diagnosis, reproductive risk information, false-positive (FP) results, and overdiagnosed infants. Survey data were analyzed with a mixed logit model to assess preferences and trade-offs among attributes, interaction between attributes, and preference heterogeneity., Results: On average, respondents were favorable toward screening. Clinical benefits were the most important outcome; reproductive risk information and early diagnosis were also valued, although 8% disvalued early diagnosis, and reproductive risk information was least important. All respondents preferred to avoid FP results and overdiagnosis but were willing to accept these to achieve moderate clinical benefit, accepting higher rates of harms to achieve significant benefit. Several 2-way interactions between attributes were statistically significant: respondents were willing to accept a higher FP rate for significant clinical benefit but preferred a lower rate for moderate benefit; similarly, respondents valued early diagnosis more when associated with significant rather than moderate clinical benefit., Conclusions: Members of the public prioritized clinical benefits for affected infants and preferred to minimize harms. These findings suggest support for newborn screening policies prioritizing clinical benefits over solely informational benefits, coupled with concerted efforts to avoid or minimize harms., (Copyright © 2015 by the American Academy of Pediatrics.)