To address its task, the committee solicited public input online through a questionnaire and several listening sessions, analyzed information obtained from reviewing current literature and other publicly available resources, and undertook information-gathering activities, such as inviting experts and experts by experience to share perspectives during virtual and hybrid public sessions.

Community Input and Engagement

Public participation is a cornerstone value that supports ethical decision making; enhances legitimacy, transparency, and justice; and builds trust. Therefore, providing opportunities for those personally or professionally affected by newborn screening to share their views was essential to ensure that the recommendations developed by the committee were responsive to the needs of the system. To this end, the committee and National Academies staff worked with a civic engagement consultant to design and conduct a process to solicit input from individuals interested in or affected by newborn screening through an online questionnaire and virtual listening sessions.

The questionnaire and listening sessions were promoted to people across the United States. In addition to sharing information about the engagement activities through National Academies communication channels and the study website, the committee and staff reached out to associations, organizations, and other groups interested in or affected by newborn screening. Nearly 30 groups helped share the committee’s call for input to their networks. The aim was to obtain input from individuals reflecting a wide range of NBS experiences in the United States.

This multiperspective engagement process enabled the committee to gain insights from parents, parents of children with a rare disease, persons with a rare disease, disease advocates, health administrators, health care providers, health researchers, health industry representatives, NBS laboratory professionals, NBS follow-up professionals, public health professionals, payors, privacy advocates, specific underserved communities, and the general public. A total of 667 participants were involved in the engagement activities.

The committee’s core questions to participants were: How can we strengthen today’s NBS system? What changes would you like to see in the future? Participants shared their perspectives on current NBS strengths and challenges, as well as short-term and long-term opportunities to strengthen newborn screening in the United States. Altogether, the input highlights several tensions and seemingly contradicting positions, reflecting the range of key actors, groups, and communities that have strong stakes in newborn screening, as well as the fact that decisions about the

role and operation of newborn screening in the United States involve moral, political, health-related, and practical considerations.

Two key engagement opportunities were undertaken:

• Questionnaire (April 18–May 26, 2024): An online questionnaire available in both English and Spanish was open for public input for 38 days. The questionnaire was developed using Alchemer, a feedback and data-collection platform. The questionnaire had general questions on newborn screening, as well as targeted questions depending on the respondent’s self-identified connection to newborn screening. Limited demographic questions were asked of respondents at the end of the questionnaire for the purpose of understanding and reporting who participated. All questions, including demographic questions, were optional. A total of 570 questionnaire responses were included in the analysis.
• Listening Sessions (May 1–June 11, 2024): Six facilitated virtual listening sessions were held with individuals professionally or personally affected by newborn screening, involving 97 people. Two of these sessions were convened with the assistance of organizations to support participation by groups whose voices might otherwise be less heard.
  • NBS laboratory and follow-up professionals (May 1)
  • Rare disease patients, families, and advocacy organizations (May 5)
  • Health administrators, payors, and health care industry (May 6)
  • Health care providers (May 13)
  • Spanish-speaking parents of rare disease patients (May 23): This session was conducted in Spanish and convened with assistance from the Akari Foundation, which educates and empowers the Hispanic community on rare diseases.
  • Families with children 2 years of age or younger, who are eligible for Medicaid, or lack insurance altogether (June 11): This session was convened with assistance from REACHUP, Inc., a Florida-based organization that advocates for and mobilizes resources to help communities achieve equality in health care and positive health for families.

Each session was up to 2.5 hours long. Most of each session was spent in small group discussion to ensure that participants were able to share their views and hear from others.

Further details on the methodology and analysis, the description of who participated in the questionnaire and listening sessions, and the results can be found in the publicly available paper, What We Heard:

Engagement Summary on Newborn Screening in the United States.¹ Findings from the engagement process were integrated into the committee’s report.

Literature Review

Members and staff drew on relevant articles from peer-reviewed journals, reports, statements, websites, and other literature sources to complement committee expertise and other sources of information gathering. Strategies to identify literature relevant to the committee’s charge included searches of bibliographic databases, including PubMed, Scopus, and Pro-Quest Research Library, to obtain articles related to newborn screening. Search areas included those related to public health ethics; practices, operations, and guidance around newborn screening; screening technologies; communication, engagement, and education; near-term and longer-term diagnosis and follow-up care; retention and use of NBS dried blood spot samples and data; informed consent; rare disease research; and others. In addition, committee members, speakers, sponsors, and other interested parties identified or submitted articles, reports, and statements on these topics. Committee members and staff also analyzed federal guidance and procedures related to newborn screening from agencies including the Health Resources and Services Administration and the Centers for Disease Control and Prevention. The committee’s collection of background and reference information was updated throughout the study process.

Public Meetings and Webinars

Sessions at meetings held over the course of the study enabled the committee to obtain input from a range of additional experts. The committee’s first public meeting was held virtually in January 2024 and provided an opportunity for the committee to discuss the focus, goals, and timeline of the study. The committee held public sessions in March, May, and October 2024. Speakers who provided input to the committee are listed below. Sessions with invited speakers and experts included the following:

• Perspectives on the study context and goals from the sponsoring organization, state NBS programs, and child health or rare disease organizations (January 2024)
• Presentation and discussion on the roles and perspectives of federal partners in the NBS system (March 2024)

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¹ Susanna Haas Lyons Engagement Consulting. 2024. What We Heard: Engagement Summary. Newborn Screening in the United States. The full paper, paper summary in English, and paper summary in Spanish are available at https://www.nationalacademies.org/our-work/newborn-screening-current-landscape-and-future-directions (accessed December 4, 2024).