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Sickle cell trait newborn screen results: disclosure and management

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Abstract

This study aims to evaluate the notification process of sickle cell trait (SCT) identified by newborn screening in Alberta. On April 1, 2019, Alberta began newborn screening for sickle cell disease (SCD) and elected to report sickle cell trait (SCT). For 1 year, healthcare providers (HCPs) were sent a questionnaire which addressed the perceived importance of disclosing the SCT results, whether HCPs felt competent in disclosing the result, knowledge of available resources, and comfort with coordinating and interpreting testing for the newborn’s parents. As a control, we collected data from HCPs receiving positive cystic fibrosis (CF) newborn screen results. A total of 107 out of 203 SCT questionnaires were returned and 41 of 66 CF questionnaires were returned. Respondents felt it was important that the results be shared with families (98% and 100%, respectively). Most respondents felt competent (SCT: 95%; CF: 85%), and willing to disclose the result to the family (SCT: 92%; CF: 88%). Fewer respondents were comfortable interpreting the results (SCT: 70%; CF: 51%)), and willing to arrange parental testing (SCT: 61%; CF: 59%). Family practitioners were significantly more willing to arrange SCT parental testing (88%) compared to pediatricians (40%) (OR = 5.3; CI 1.9, 15.4; p < 0.001). HCP comments revealed two themes: referral to another HCP for follow-up and identification of the primary HCP. Results support this disclosure process, and HCPs felt comfortable following up with SCT newborn screen results. The study identified challenges such as pediatricians being less comfortable ordering parental testing and the ordering HCP not always being the primary care provider.

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Authors and Affiliations

  1. Newborn Screening Laboratory, Alberta Precision Laboratories, 4B2.04 WMC, University of Alberta Hospital, 8440 112 St., Edmonton, Alberta, T6G 2H7, Canada

    Margaret Lilley, Stephanie Hoang, Pamela Blumenschein, Iveta Sosova, Lauren Macneil, Ross Ridsdale & Susan Christian

  2. University of Alberta, Edmonton, Alberta, Canada

    Ann-Marie Peturson

Authors
  1. Margaret Lilley
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  2. Stephanie Hoang
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  3. Pamela Blumenschein
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  4. Ann-Marie Peturson
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  5. Iveta Sosova
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  6. Lauren Macneil
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  7. Ross Ridsdale
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  8. Susan Christian
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Correspondence to Margaret Lilley.

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The authors declare that they have no conflicts of interest.

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Ethics approval was obtained through the University of Alberta Health Ethics Research Board (Pro00089510).

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Participants were provided with an introductory letter that preceded the survey. Consent was implied by the completion of the survey.

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Lilley, M., Hoang, S., Blumenschein, P. et al. Sickle cell trait newborn screen results: disclosure and management. J Community Genet 12, 137–142 (2021). https://doi.org/10.1007/s12687-020-00489-x

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  • DOI: https://doi.org/10.1007/s12687-020-00489-x

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