Experience with Parent Follow-Up for Communication Outcomes after Newborn Screening Identifies Carrier Status

• Published in: The Journal of pediatrics Vol. 224; pp. 37 - 43.e2
• Main Authors: Farrell, Michael H., La Pean Kirschner, Alison, Tluczek, Audrey, Farrell, Philip M.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.09.2020
• Subjects: Anemia, Sickle Cell - genetics; Anxiety - diagnosis; Carrier State - diagnosis; Carrier State - psychology; Cohort Studies; communication; cystic fibrosis; Cystic Fibrosis - genetics; Female; Genetic Carrier Screening - ethics; Genetic Carrier Screening - standards; genetic screening; Health Knowledge, Attitudes, Practice; Humans; incidental findings; Infant; Infant, Newborn; Informed Consent; Male; Neonatal Screening; newborn screening; Parents - psychology; Patient Satisfaction; Physician-Patient Relations; Qualitative Research; sickle cell hemoglobinopathy; Surveys and Questionnaires; sickle cell hemoglobinopathy; genetic screening; CF; cystic fibrosis; IRB; SCH; incidental findings; communication; PCP; newborn screening; ELSI; NBS
• ISSN: 0022-3476; 1097-6833
• DOI: 10.1016/j.jpeds.2020.03.027

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). 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. 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. 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.