Background: Familial hypercholesterolemia (FH) is an inherited disease which causes premature atherosclerotic cardiovascular disease. However, less than 10% of individuals with FH have been identified.
Objective: To assess parental perspectives for inclusion of FH on routine newborn screening (NBS) and to highlight potential benefits, harms, and ethical concerns.
Methods: Telephone interviews of two groups were conducted: 1) parents of children diagnosed with FH, and 2) parents of children diagnosed with a genetic condition through NBS. Stratified purposive sampling was used to ensure adequate representation. The 11 telephone interviews were conducted in 30-min sessions guided by a semi-structured interview script. At the beginning of the interview, participants were educated on the NBS process and FH. The interviews were transcribed verbatim, and a thematic analysis was performed in multiple steps.
Results: All interviewees indicated that they would be interested in having their child be screened for FH on the newborn screen. Reasons supporting screening during the newborn period included knowing their child's diagnosis, the ability to screen family members for FH, incorporation of lifestyle changes, and access to preventive care. Negatives surrounding screening during the newborn period included increased stress or anxiety, knowledge, stigma, and the delay from diagnosis to initiation of pharmacotherapy for FH.
Conclusion: While these interviewees were in favor of NBS for FH, further education of parents and clinicians is needed to ensure proper implementation. The results of this study may be useful to formulate family notification and care protocols for newborns diagnosed with FH and other diseases.
Keywords: Children; Cholesterol; Coronary Artery Disease; Dyslipidemia; Population Health; Universal Screening.
What is already known on this subject? Familial hypercholesterolemia is a common inherited disorder that predisposes to early cardiovascular disease, but most affected individuals are not diagnosed. Childhood cholesterol screening is an effective but underutilized diagnostic tool. Previous studies report parents find childhood cholesterol screening acceptable, but it is not known if screening newborns would also be acceptable.What does this study add? Interviewees found screening newborns for familial hypercholesterolemia acceptable and would agree to screen their own newborn. The ability to screen other family members and access to early treatment were important factors in their decision to screen. Education of clinicians about familial hypercholesterolemia was an important concern raised by interviewees.
© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.