Natasha Bonhomme

Surveys are used to gather a range of data on newborn screening (NBS) processes. We describe the development of a survey about parents’ NBS experiences, in the United States, informed by cognitive pretest interviews among parents with varying NBS test results (true-positive, false-positive, normal). Cognitive pretest interviews were conducted following a semi-structured script and notes were taken to identify problematic survey items. The study team met weekly to discuss pretest feedback, draft changes, and generate revised items. Pretests indicated that parent experiences with NBS are varied and NBS screening procedures are not well understood. Substantial modifications were made to survey questions concerning NBS testing and result communication. Pretesters often associated NBS with other tests/exams/scales—APGAR scores, Ages and Stages questionnaires, and genetic testing during pregnancy. Some pretesters recalled receiving NBS blood spot results during their hospital admission, an uncommon practice, and few recalled knowing results would be provided to them or their pediatrician in the first few weeks of life. Thorough explanations regarding NBS procedures and expectations were embedded within the survey to enhance and improve interpretation of survey questions. Future NBS experience surveys should utilize cognitive pretesting to capture divergent experiences and improve response validity.

Newborn screening (NBS) is a public health service available to all babies born in the United States (US). NBS is one of the first experiences families have in the US healthcare system with a new baby. A positive experience with NBS can give families a strong start to their child's health care and build trusting relationships with providers. A lack of easily accessible NBS education for families can exacerbate health inequalities through negative interactions with the healthcare system. Expecting Health, a maternal and child health education and advocacy initiative of Genetic Alliance, partnered with RTI International to implement an online survey assessing needs and preferences around NBS‐related health education, with a particular interest in those of families living within medically underserved areas (MUAs). A total of 500 participants completed the survey, including 200 participants living in MUAs. The results of the survey showed that, compared with US families living outside of MUAs, families living in MUAs are generally less aware of NBS and do not receive NBS education at the optimal time (i.e., before birth), which could indicate they experience inequities in NBS education. While families across different geographic areas seem to have similar preferences in terms of content for NBS education, the results show that some distinct communication methods are needed to reach families living in MUAs. To bridge the gap in NBS education to families living in MUAs, the Expecting Health team built an online NBS educational module, using preferred communication methods—specified through the survey—for families living in MUAs.

Newborn screening is a process-based public health service. Newborn screening staff and families alike are essential to maintaining the timeliness of the screening process. Newborn screening education must be accurate and accessible. Past newborn screening conferences have highlighted gaps in best practice and evidence-based guidance on newborn screening education. Sharing successful strategies across programs mitigates the scarcity of resources by cutting costs and reducing the burden of work. These factors illustrate the need for an education framework to guide newborn screening education efforts. The Newborn Screening Education Best Practices Framework responds to these issues by outlining guidance for newborn screening education approaches. Experts in the fields of newborn screening, genetics, and bioethics as well as previous research on best practice guidelines have contributed to the development of this framework. The framework outlines a process for users to evaluate newborn screening education approaches as best practices. This framework reviews best practices using a two-step approach, looking at guiding questions, implementation of the newborn screening issue, and evaluation. The framework helps the user define the characteristics of the newborn screening issue, intended audience, and practical steps to implementation, and then decide whether or not it can be used as a best practice.

There is a growing support for the stance that patients and research participants should have better and easier access to their raw (uninterpreted) genomic sequence data in both clinical and research contexts. We review legal frameworks and literature on the benefits, risks, and practical barriers of providing individuals access to their data. We also survey genomic sequencing initiatives that provide or plan to provide individual access. Many patients and research participants expect to be able to access their health and genomic data. Individuals have a legal right to access their genomic data in some countries and contexts. Moreover, increasing numbers of participatory research projects, direct-to-consumer genetic testing companies, and now major national sequencing initiatives grant individuals access to their genomic sequence data upon request. Drawing on current practice and regulatory analysis, we outline legal, ethical, and practical guidance for genomic sequencing initiatives seeking to offer interested patients and participants access to their raw genomic data.