Background: Familial hypercholesterolaemia (FH) is an inherited condition that substantially increases the risk of premature atherosclerotic cardiovascular disease (ASCVD). Despite effective therapies, many affected individuals remain undiagnosed. Incorporation of FH testing into newborn screening (NBS) is a potential strategy to increase detection. This study explores the attitudes of expectant parents toward NBS for FH. Methods: Expectant parents attending Obstetrics and/or Obstetric Medicine clinics at a tertiary referral centre were invited to participate in a semi-structured interview in person or via telephone. The interview explored views on screening children for FH in general, preferred timing of screening, opinions on integrating FH screening into routine NBS, acceptability of genetic testing in children and newborns, willingness to engage in family screening and any potential impact on participation in routine NBS programmes. Participants were also invited to discuss concerns and benefits. Results: All participants (n = 22) supported screening children for FH with the majority (n = 19, 86%) preferring screening during the newborn period, and all but one (n = 21, 95%) supporting adding FH to routine NBS. All participants (n = 22, 100%) considered genetic testing for FH acceptable for children, 21 (95%) considered it acceptable for newborns. All participants would partake in extended family screening and none indicated that including FH genetic testing would reduce their willingness to engage in routine NBS. Concerns raised by participants included administering lipid-lowering therapy to children and potential post-diagnosis stress and anxiety. All participants reported that a diagnosis would not affect parent–child bonding. Key perceived benefits raised by participants included early diagnosis and prevention of heart disease, family screening, and broader health system and community advantages. Conclusions: Expectant parents demonstrated strong support for FH NBS and indicated no negative impact on uptake of routine NBS. Further work is needed to address parental concerns and guide implementation strategies.
Bachmeier et al. (Sun,) studied this question.