Newborn genetic testing in the United States and access to needed specialist care, National Survey of Children's Health, 2020: A cross-sectional study.

Newborn screening tests (NST) are important public health procedures with potential to improve quality of life, and decrease morbidity/mortality by identifying metabolic, genetic, enzymatic, and endocrinological diseases/conditions. In the United States (U.S.), Hawaii conducts the fewest NST (28) and Connecticut conducts the most (75). The purpose of this research is to determine if difficulty receiving specialty care for children with genetic diseases is associated with NST determination of the genetic condition. The research hypothesis is that parents/guardians of children with determination of genetic disease from NST are more likely to report no/slight difficulty accessing specialty care versus parents/guardians of children with genetic diseases whose determination was other than NST. This study has a cross-sectional design with National Survey of Children's Health, 2020 data. Data were analyzed for frequency, Rao Scott Chi square, and logistic regression analyses. Of 833 children with genetic diseases, most parents/guardians reported no/slight difficulty in receiving needed specialty care; however, children whose determination of a genetic condition was other than NST were 4.82 times as likely (95%CI: 1.66, 14.02; p = 0.0040) to have difficulty. In analysis adjusted for sex, race, age, premature birth, and birthweight, the adjusted odds ratio was 6.71 (95% CI:1.91, 23.60 p = 0.0031). Parents/guardians of children screened with a positive NST reported less difficulty in receiving needed specialist care as compared with reports of parents/guardians of children with genetic conditions who were diagnosed later. The implication is there would be greater population level benefits realized in the U.S. if NST were expanded in states conducting minimal testing.