Sickle cell trait newborn screen results: disclosure and management

Area of Science:

• Medical Genetics
• Public Health
• Neonatal Screening

Background:

• Alberta implemented newborn screening for sickle cell disease (SCD) and sickle cell trait (SCT) in April 2019.
• Reporting SCT results necessitates a clear and effective notification process for healthcare providers (HCPs).

Purpose of the Study:

• To evaluate the effectiveness of the SCT newborn screening notification process in Alberta.
• To assess HCPs' perceptions regarding the disclosure, competence, resources, and coordination of SCT results.
• To compare SCT screening follow-up with cystic fibrosis (CF) screening follow-up.

Main Methods:

• A questionnaire survey was distributed to HCPs in Alberta over one year.
• The survey assessed HCPs' views on disclosing SCT results, their confidence, resource knowledge, and comfort with parental testing.
• Data from SCT screening was compared with data from positive cystic fibrosis (CF) newborn screening results.

Main Results:

• A high percentage of respondents (98% for SCT, 100% for CF) deemed result disclosure important.
• Most HCPs felt competent (95% SCT, 85% CF) and willing (92% SCT, 88% CF) to disclose results.
• Comfort levels were lower for interpreting results (70% SCT, 51% CF) and arranging parental testing (61% SCT, 59% CF).
• Family practitioners showed significantly higher willingness (88%) to arrange SCT parental testing than pediatricians (40%).
• Key themes from comments included the need for clear referral pathways and primary HCP identification.

Conclusions:

• The current SCT newborn screening disclosure process in Alberta is supported by HCPs.
• HCPs generally feel comfortable managing SCT newborn screen results.
• Challenges exist in result interpretation and parental testing coordination, with noted differences between pediatricians and family practitioners.