title: Enhancing the quality and efficiency of newborn screening programs through the use of health information technology.
abstract: A variety of efforts are underway at national, state, regional, and local levels to enhance the performance of programs for early detection of inherited diseases and conditions of newborn infants. Newborn screening programs serve a vital purpose in identifying nonsymptomatic clinical conditions and enabling early intervention strategies that lessen morbidity and mortality. Currently, the programs of most intense focus are early hearing detection and intervention, using physiological techniques for audiology screening and use of newborn dried blood spots for detection of metabolites or proteins representing inherited disorders. One of the primary challenges to effective newborn screening programs to date has been the inability to provide information in a timely and easily accessible way to a variety of users. Other challenging communication issues being faced include the complexity introduced by the diversity of conditions for which testing is conducted and laboratory methods being used by each state's screening programs, lack of an electronic information infrastructure to facilitate information exchange, and variation in policies that enable access to information while protecting patient privacy and confidentiality. In this study, we address steps being taken to understand these challenges, outline progress made to date to overcome them, and provide examples of how electronic health information exchange will enhance the utility of newborn screening. It is likely that future advances in science and technology will bring many more opportunities to prevent and preempt disabilities among children through early detection programs. To take their advantage, effective communication strategies are needed among the public health, primary care practice, referral/specialty service, and consumer advocacy communities to provide continuity of information required for medical decision-making throughout prenatal, newborn, and early childhood periods of patient care.
authors.affiliation: Personalized Health Care Initiative, Office of the Secretary, US Department of Health and Human Services, Washington, DC 20201, USA. gregory.downing@hhs.gov
authors.forename: Gregory J
authors.initials: GJ
authors.lastname: Downing
authors.forename: Alan E
authors.initials: AE
authors.lastname: Zuckerman
authors.forename: Constanze
authors.initials: C
authors.lastname: Coon
authors.forename: Michele A
authors.initials: MA
authors.lastname: Lloyd-Puryear
mesh_terms: D000293:Adolescent; D000328:Adult; D000755:Anemia, Sickle Cell / Q000175:diagnosis / Q000628:therapy; D003266:Continuity of Patient Care; D057286:Electronic Health Records; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening / Q000592:standards*; D017042:Phenylketonuria, Maternal / Q000175:diagnosis / Q000628:therapy; D011247:Pregnancy; D011785:Quality Assurance, Health Care