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Experience with Parent Follow-Up for Communication Outcomes after Newborn Screening Identifies Carrier Status
Michael H Farrell1, Alison La Pean Kirschner2, Audrey Tluczek3
1Mayo Clinic Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN; Center for Patient Care and Reactions Research, Medical College of Wisconsin, Milwaukee, WI.
Insights
Newborn blood screening (NBS) follow-up for sickle cell hemoglobinopathy and cystic fibrosis carriers is effective, though some parents experience dissatisfaction and misconceptions. Patient-centered approaches can mitigate these harms.
Area of Science:
- Genetics and Genetic Diseases
- Public Health
- Pediatrics
Background:
- Newborn blood screening (NBS) identifies infants with carrier status for genetic conditions like sickle cell hemoglobinopathy and cystic fibrosis.
- Understanding parental experiences and potential psychosocial impacts of receiving carrier status results is crucial for effective public health follow-up.
Purpose of the Study:
- To interview parents of infants identified with heterozygous status for sickle cell hemoglobinopathy or cystic fibrosis via NBS.
- To assess parental recall of NBS results, satisfaction with the disclosure process, and associated psychosocial outcomes.
Main Methods:
- A multiyear sample of parents of infants with carrier status for sickle cell hemoglobinopathy (n=426) and cystic fibrosis (n=288) were interviewed using a structured script.
- Recruitment strategies were employed to minimize bias.
- Data collected included recall of results, appraisal of provider explanations, satisfaction, anxiety levels, and misconceptions.
Main Results:
- A significant proportion of parents had no recollection of being informed of NBS results (27.5% and 7.8%).
- Negative appraisals of provider explanations and dissatisfaction with learning about NBS results were reported by some parents (8.6%-13.2%).
- Misconceptions about infant disease risk were present, and anxiety levels were low but higher in the sickle cell hemoglobinopathy group. Parental factors and NBS results predicted outcomes.
Conclusions:
- Patient-centered public health follow-up is effective for informing parents about NBS carrier status.
- While psychosocial complications were uncommon, the identified harms necessitate mitigation strategies to improve the parent experience.
- Addressing parental understanding and providing clear communication are vital for positive outcomes.
Objective:
To conduct interviews with a multiyear sample of parents of infants found to have heterozygous status for sickle cell hemoglobinopathy or cystic fibrosis during newborn blood screening (NBS).
Study Design:
Interviewers with clinical backgrounds telephoned parents, and followed a structured script that blended follow-up and research purposes. Recruiting followed several steps to minimize recruiting bias as much as possible for a NBS study.
Results:
Follow-up calls were conducted with parents of 426 infant carriers of sickle cell hemoglobinopathy, and 288 parents of cystic fibrosis carriers (34.8% and 49.6% of those eligible). Among these, 27.5% and 7.8% had no recollection of being informed of NBS results. Of those who recalled a provider explanation, 8.6% and 13.0% appraised the explanation negatively. Overall, 7.4% and 13.2% were dissatisfied with the experience of learning about the NSB result. Mean anxiety levels were low but higher in the sickle cell hemoglobinopathy group (P < .001). Misconceptions that the infant might get the disease were present in 27.5% and 7.8% of parents (despite zero actual risk for disease). Several of these data were significantly predicted by NBS result, health literacy, parental age, and race/ethnicity factors.
Conclusions:
Patient-centered public health follow-up can be effective after NBS identifies carrier status. Psychosocial complications were uncommon, but harms were substantial enough to justify mitigation.
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