Understanding sickle cell carrier status identified through newborn screening: a qualitative study

Area of Science:

• Genetics and Public Health
• Medical Screening Policy
• Communication in Healthcare

Background:

• Newborn screening (NBS) panels are expanding, leading to more incidental carrier results.
• Carrier status is typically considered clinically benign but can be misunderstood by parents.
• The inclusion of sickle cell disorders in NBS highlighted policy challenges with incidental carrier results.

Purpose of the Study:

• To investigate consumer and provider attitudes toward incidental carrier results from newborn screening.
• To inform policy development regarding the disclosure of carrier status.
• To understand the complexities surrounding the interpretation of carrier results.

Main Methods:

• Qualitative interviews with healthcare providers, advocates, and parents of carrier infants.
• Focus groups with new parents and individuals from the sickle cell community.
• Analysis of diverse perspectives on the clinical significance of carrier status.

Main Results:

• Most lay and provider participants viewed carrier results as clinically insignificant.
• Some consumers expressed persistent uncertainty and doubt regarding carrier status.
• Informed individuals and providers presented varied and sometimes conflicting views on clinical significance.
• Providers offered an equivocal assessment of clinically symptomatic carrier status based on research.

Conclusions:

• Multiple, often conflicting, interpretations of carrier status exist, challenging clear communication.
• Inconsistent messaging from screening programs regarding sickle cell carrier status exacerbates communication difficulties.
• Disclosure policies for incidental infant carrier results must address the complex realities of interpretation and communication.