Diverse Parental Perspectives of the Social and Educational Needs for Expanding Newborn Screening through Genomic Sequencing.

OBJECTIVE

The aim of this study was to explore the parental views, attitudes, and preferences of expanded newborn screening (NBS) through genomic sequencing.

STUDY

DESIGN

We conducted a semi-structured interview study with English and Spanish speaking mothers who had given birth within the USA in the past 5 years. The interviews explored opinions of expanding NBS, ethical and privacy concerns, and educational and social needs.

RESULTS

All participants were interested in some degree of NBS expansion. However, there were differing opinions about the characteristics of conditions that should be included with less consensus for conditions with low penetrance, those without approved treatment, or onset outside of early childhood. All parents endorsed potential medical utility but also nonmedical utility as a motivating factor including being able to prepare and not being surprised by health issues as they occurred. Most felt that it was important to have some choice about the conditions screened, and many expressed the importance of proper education to make an informed choice and a desire to receive this education in the prenatal period. Responses to the type of education and information needed to make an informed decision varied.

CONCLUSIONS

Parents anticipate value in expanded NBS through genomic sequencing both for medical and nonmedical/personal utility. In order to successfully implement expanded NBS, prospective parents need more and earlier education about the process. These needs may differ by language and culture. Information needs to be easily accessible and to be curated by appropriate experts and stakeholders, including parents representative of the diversity of the USA.