Newborn screening policy development: The Secretary's Advisory Committee on heritable disorders in newborns and children

Abstract

The Secretary's Advisory Committee on Heritable Disorders in Newborns and Children [SACHDNC] was created by Congress and began its work in 2004. The Committee's charge is to advise and guide the Secretary of the federal Department of Health and Human Services regarding the most appropriate application ofchildhood and universal newborn screening tests, technologies, policies, guidelines and programs for effectively reducing morbidity and mortality in newborns and children having or at risk for heritable disordersThis presentation focus on two important areas of policy development important for the LSD community: 1) the use and storage of residual blood spots and 2) the development of evidence-based recommendations for screening newborns and children for genetic disorders. SACHDNC encourages an approach to guidance that maintains the standard uses of the residual blood specimens by newborn screening programs and upholds the core principles of benefiting infants, families and society, protecting privacy and confidentiality, and ensuring the public's trust while recognizing the research value of residual newborn screening specimens and their potential for advancing science and clinical care. SACHDNC believes that national guidance on the retention and use of residual newborn screening specimens would help states to navigate these complex issues. The recommendations related to the retention and use of residual dried blood spot specimens are intended to work in concert with - and not to weaken - longstanding and highly effective state newborn screening programs.When developing its recommendations on the screening panel to the Secretary, SACHDNC considers the nature of the science itself underlying the potential additions of the technology and the heritable conditions to the Recommended Uniform Screening Panel as well as the public health implications of implementation.