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Patient advocacy in newborn screening: continuities and discontinuities
1University of Massachusetts Boston, Boston, Massachusetts, USA. diane.paul@umb.edu
Insights
Patient advocacy groups drove newborn screening for phenylketonuria (PKU) and expanded it. Their public health ethics have shifted due to social changes and industry ties, impacting their strategies and professional relationships.
Area of Science:
- Medical Genetics
- Public Health Policy
- Patient Advocacy
Background:
- Newborn screening programs, initiated in the 1960s for phenylketonuria (PKU), have evolved significantly.
- Patient advocacy groups were pivotal in establishing and expanding these programs, advocating for broader testing panels and supplemental services.
Observation:
- Early advocacy groups operated with a strong public health ethic, exemplified by the National Association for Retarded Children (NARC).
- Over time, this ethic has been influenced by societal shifts and increasing collaborations with pharmaceutical and biotechnology companies.
Findings:
- The history of newborn screening reveals evolving agendas, funding, and rhetorical strategies of advocacy groups.
- Tensions and partnerships with medical professionals have persisted, with their dynamics altered by advocacy groups' growth in numbers, resources, and influence.
- New alliances with industry and new justifications for testing access have emerged, marking a notable shift in advocacy approaches.
Implications:
- Understanding these historical shifts is crucial for navigating the current landscape of newborn screening policy and practice.
- The evolving role of advocacy groups highlights the complex interplay between public health, industry, and patient interests.
- Future directions in newborn screening must consider the impact of industry funding and changing advocacy rationales on public health goals.
Abstract:
In the 1960s, patient advocacy groups were instrumental in efforts to mandate state testing of newborns for phenylketonuria (PKU), a recessively inherited disorder of phenylalanine metabolism. Advocacy groups have continued to actively lobby for the expansion of screening to other conditions detectable in newborns and, currently, for states' adoption of a uniform core screening panel. They have also been generally favorable to the offer of fee-based supplemental screening services. In the early years of newborn screening, groups such as the National Association for Retarded Children (NARC) were strongly imbued with a public-health ethic. This ethic has apparently eroded over time as the result of both broad social changes and the increasing entanglement of such groups with pharmaceutical and biotechnology companies. A history of newborn screening reveals both continuities and discontinuities in the agendas and funding of patient advocacy groups and in their rhetorical strategies. In particular, it demonstrates that there have always been tensions as well as partnerships with medical and other professionals, although the nature and intensity of the former have been affected by advocacy groups' increasing numbers, resources, and cultural authority. It also illuminates differences that have emerged as advocacy groups have informally allied with industry and adopted new rationales in support of access to testing.
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