Background: Expanded newborn screening generates incidental results, notably carrier results. Yet newborn screening programmes typically restrict parental choice regarding receipt of this non-health serving genetic information. Healthcare providers play a key role in educating families or caring for screened infants and have strong beliefs about the management of incidental results.
Methods: To inform policy on disclosure of infant sickle cell disorder (SCD) carrier results, a mixed-methods study of healthcare providers was conducted in Ontario, Canada, to understand attitudes regarding result management using a cross-sectional survey (N = 1615) and semistructured interviews (N = 42).
Results: Agreement to reasons favouring disclosure of SCD carrier results was high (65.1%–92.7%) and to reasons opposing disclosure was low (4.1%–18.1%). Genetics professionals expressed less support for arguments favouring disclosure (35.3%–78.8%), and more agreement with arguments opposing disclosure (15.7%–51.9%). A slim majority of genetics professionals (51.9%) agreed that a reason to avoid disclosure was the importance of allowing the child to decide to receive results. Qualitatively, there was a perceived “duty” to disclose, that if the clinician possessed the information, the clinician could not withhold it.
Discussion: While a majority of respondents perceived a duty to disclose the incidental results of newborn screening, the policy implications of these attitudes are not obvious. In particular, policy must balance descriptive ethics (ie, what providers believe) and normative ethics (ie, what duty-based principles oblige), address dissenting opinion and consider the relevance of moral principles grounded in clinical obligations for public health initiatives.
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Funding The study was funded by the Ontario Ministry of Health and Long-Term Care. The study sponsor had no role in the study design, data collection, analysis or interpretation, writing of the report, or in the decision to submit the article for publication. Sponsors’ support of this work should not imply endorsement of the conclusions, for which the authors retain sole responsibility. FAM is supported by a New Investigator Award from the Institute of Health Services and Policy Research of the Canadian Institutes of Health Research (80495). RZH is supported by a CADRE postdoctoral fellowship from the Canadian Institutes of Health Research and the Canadian Health Services Research Foundation. JL holds a Canada Research Chair in Human Genome Epidemiology. JCC is supported by the Sydney G Frankfort Chair in Family Medicine. YB was supported by Apogee-Net, a network funded by the Canadian Institutes of Health Research.
Competing interests None.
Provenance and Peer review Not commissioned; externally peer reviewed.
Ethics approval This study received approval from the Hamilton Health Sciences Research Ethics Board.
▸ Additional supplemental tables 1–4 are published online only at http://jme.bmj.com/content/vol35/issue10