Enhancing the Quality and Efficiency of Newborn Screening Programs Through the Use of Health Information Technology

Enhancing the Quality and Efficiency of Newborn Screening Programs Through the Use of Health Information Technology Gregory J. Downing, DO, PhD,* Alan E. Zuckerman, MD,† Constanze Coon, PhD,‡ and Michele A. Lloyd-Puryear, MD, PhD§ 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. Semin Perinatol 34:156-162 Published by Elsevier Inc. KEYWORDS health information technology, newborn screening, quality improvement, health information exchange, public health

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ecent developments in science, technology, and public health are poised to have major effect on the future frontiers of programs that conduct newborn screening and interventions of affected children with inherited disorders. Since

*Personalized Health Care Initiative, Office of the Secretary, US Department of Health and Human Services, Washington, DC. †Department of Pediatrics, Georgetown University, US Department of Health and Human Services, Washington, DC. ‡Deloitte Consulting LLP, McLean, VA. §Maternal and Child Health Bureau, Health Resources and Services Administration, US Department of Health and Human Services, Rockville, MD. Address reprint requests to Gregory J. Downing, DO, PhD, Office of the Secretary, 200 Independence Avenue, SW Room 445 F.5, Washington, DC 20201. E-mail: [email protected]

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0146-0005/10/$-see front matter Published by Elsevier Inc. doi:10.1053/j.semperi.2009.12.005

the initiation of state programs in the 1960s, measures to identify patients with clinically unrecognizable diseases and conditions have created one of the most comprehensive national capabilities for early detection, prevention, and mitigation of inherited disorders.1 In recent years, federal and state legislative actions have provided an impetus for testing programs to enhance screening program services and measuring program performance. Under the directive of the newborn Screening Saves Lives Act of 2008, most states have now implemented the 29-test core panel recommended by the Department of Health and Human Services Secretary’s Advisory Committee on Heritable Disease in Newborns and Children.2,3 Uniformity of adoption of the recommended panel has led to an increase in newborn screening test information

Use of health information technology and emphasized the need for health information exchange (HIE) to support management needs of state programs. Of particular interest in public health and relevance to medical practice are early detection programs for hearing impairment (EDHI) and genetic and other congenital disorders using newborn dried blood spots. In looking to the future, there will likely be greater demand for services as new testing platforms emerge, the scientific evidence for screening accrues, and as new intervention strategies unfold for the management of these inherited disorders. Despite rapid growth in attention to newborn screening programs, some of the more daunting challenges remain the collection, archiving, and dissemination of a patient’s screening test information. Unlike newborn screening programs in countries with integrated health systems, the lack of information networks is a major limitation to effectiveness of programs, such as the inability to demonstration completion of screening processes, and verification of the delivery of test results to the patient care providers.4 From a public health perspective, newborn screening programs represent an interesting challenge for information integration at the interface of hospitals, laboratories, primary care practices, referral centers, and patients and their caregivers. In addition, each state government program differs in its laboratory infrastructure and battery of diseases and conditions for which screening is conducted, and this compounds the challenge for designing informatics solutions. At present, communication is further hampered by low levels use of electronic health record (EHR) systems in the ambulatory care settings that provide newborn care. In recent years, increased attention has been directed to improve the capabilities for information, supporting the acquisition of newborn test orders and results.5 The major focus of these activities is on the transmission of laboratory test orders and results to enable health care providers responsible for the initial follow-up. Although there are many other aspects of the patient care scenario, such as patient referral and longitudinal evaluation of patient outcomes that are important, these are all dependent on having completed the initial screening steps. Several key building blocks for integrated newborn screening information management will be unfolding over the next several years that will enable the primary care provider to customize patient care plans according to practice guidelines. First, efforts are underway to establish an information infrastructure that will support electronic transmission of health information across boundaries of organizations and electronic information systems.6 Second, the technical capabilities of EHR systems will be enhanced to enable capture and tracking of a patient’s status in newborn screening programs through the use of interoperability features that enable communication across different technology platforms.7 Third, financial incentives are being used to foster the acquisition of EHR systems by hospitals, laboratories, and primary care settings, and provide for higher service reimbursement rates for the use of these systems in patient care.8 Fourth, EHR systems will be enhanced to offer health care providers decision support capabilities that enable customized manage-

157 ment plans in accordance with practice guidelines. Collectively, the integration of these key steps will establish a framework to enhance comprehensive newborn care that supports effectiveness of newborn screening practices of each patient by providing timely access to information, and supporting evidence-based patient management practices. Furthermore, the results of these technical capabilities will contribute toward the improvement in the effectiveness and efficiency of newborn screening programs.

Prospects for Improving Communication Processes and Clinical Decision-Making in Newborn Screening Newborn discharge from the hospital represents the first transfer of care and is a critical time for coordination of care for infants with inherited and congenital conditions. Although most genetic conditions detected in newborns are rare and may be seen only once in a career by most primary care physicians, it is essential that the information from the newborn screen follows the infant in a longitudinal manner. In addition, it is easy for an infant to miss newborn screening when sick or when transferred across health care settings. Currently, officials of many newborn screening programs have no way to know when a child has not been tested. It is widely considered standard of care for primary care providers to assure that testing has been done and the results have been documented. However, the lack of a confirmed laboratory test result does not represent the absence of a disorder. This verification step is often difficult because family members may not remember or know that the infant had screening tests performed. Furthermore, documentation that newborn screening has occurred results should be available for all newborns at the time of their first well-child visit, and these results should be recorded in a standardized place within the medical record by 1 month of age. Assuring completion of newborn screening is critical because it identifies conditions, which may require immediate intervention. Many, like medium-chain dehydrogenase deficiency or congenital adrenal hyperplasia, can be lethal if appropriate management is not begun early. Also, like medium-chain dehydrogenase deficiency and congenital adrenal hyperplasia, the treatment for most condition is well-defined. Effective communication is essential to the well-being of the screen positive infant, the quality of newborn screening programs, and the developing patient and/or family-physician relationship. Collaborative relationships among primary care and specialty providers and their patients and families can be enhanced through electronic HIE. Developing HIE infrastructure in newborn screening programs to support communication processes presently is hampered by the lack of standardization in state practices and in HIE tools. Individual states vary in the tests and target conditions included in their newborn screening programs, the data that are collected on the filter paper test order form or audiology records, and the information and format of their reports to

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158 clinicians. Although complete standardization and uniformity are neither required nor a goal, much progress has been made in accommodating this variability within standard messages, while standardizing terminology and coding to make data from all states easy to access and to understand by clinicians practicing in other states. In addition, HIE can also facilitate the process of educating parents and providers about newborn screening or a particular newborn screen. Parents expect that both pediatric and prenatal providers serve as central sources of information and education about newborn screening. In some states, state legislation requires the primary source of education be the obstetrician; most often state legislation is silent or gives the pediatrician the responsibility of educating parents about newborn screening. Parents want concise, easy-to-read newborn screening materials delivered to them before the birth of their infant, preferably in the third trimester. Providers also want concise, easy-to-read materials that they can use for educating parents and that support their clinical decision-making processes. HIE can deliver educational tools and materials to both providers and parents and families. Guidelines, such as the Health Resources and Services Administration-funded action sheets, are useful for the provider decision-making process9 and currently are being used to accompany the screen-positive newborn screening result in many state screening programs. In looking toward functional benefits of HIE, clinicians can have this information delivered more rapidly. In addition, a clearinghouse for newborn screening information in electronic form for providers and for patients was established by the Newborn Screening Saves Lives Act of 2008 and funded by Health Resources and Services Administration and is being implemented by the Genetic Alliance and the National Newborn Screening and Genetics Resource Center.10 This clearinghouse will facilitate dissemination of guidelines and educational materials to providers and patients and facilitate access to centers of excellence for rare diseases. For newborn screening programs, assuring that all infants are screened requires establishing a denominator of all live births through vital records and sharing information between vital records, immunization registries, hearing screening registries, birth defects registries, and other public health programs to assist with complete data tracking and locating infants for long-term follow-up. For primary care providers, many conditions detected by newborn screening require long-term nutritional services, early intervention services, educational services, and genetic counseling and specialist services that are best ensured through electronic data exchange and integration of that data into a child health profile. Patients will move to other locations, sometimes shortly after birth, and the portability of electronic information is essential to completing the screening process, providing services to individual families, and assuring complete and accurate program assessments within individual states. HIE for newborn screening for both pediatric and prenatal care providers initially means documenting the newborn screen and its results. In addition, it means documenting family history of disorders to ascertain genetic risk factors for current and future pregnancies. The following are crucial points of information exchange that can be derived from the patient’s record:

1. Screen. Both the pediatric (during first office visit) and prenatal (in the hospital before discharge) health care provider should confirm that the newborn screen was performed (some state laws assign screening responsibility to the person attending the birth). Generally, newborn screening will occur because of standing orders from the birthing facility. However, an absent or undocumented screen may be the case as in home births, hospital transfers, adoptions, or parent refusal. Using HIE, charts can be flagged for: X absent screen, noting an opportunity to speak with the parents about newborn screening at the next office visit. If no screen is performed also, it is important to document an absent screen if infant later displays signs of developmental delay, seizures, poor growth, vomiting, recurrent pneumonia, or sepsis; X out of range screening result; and X inadequate screening specimen (ie, collected too early, inadequate specimen, poor drying or application, or illegible patient information) 2. Follow-up and diagnosis. If the screen is out of range, proper follow-up for diagnosis and treatment must be ensured by the pediatric care provider and the state newborn screening follow-up coordinator. HIE can facilitate the necessary care coordination and communication between the subspecialist and pediatrician and document laboratory results, diagnosis, treatments, and any management issues. 3. Family history. Complete evaluation and management of newborns screening results requires consideration of family history information, which can be gathered electronically through the Surgeon General’s family health history tool “My Family Health Portrait” (https:// familyhistory.hhs.gov/) or other family history tools to generate important supplemental data that can be combined with newborn screening.11 The family history acquired by such tools is particularly important for identifying genetic causes of hearing impairment and for assisting genetic counseling for all conditions detected by newborn screening. It is appropriate to collect family history information on all newborns close to the time of newborn screening as a part of the process of starting a lifetime health record. New electronic family health history tools that translate the parent’s family health history into the newborn’s perspective make these data collection a feasible goal and add value for all infants. Just as newborn screening has value for infants who screen normal, so too, family history has value for all infants in setting a baseline for future patient care decisions. The newborn period is an ideal time to establish that baseline data.

Steps to Enhance the Information Exchange for Newborn Screening Momentum has been gaining to enable information about newborn screening test results to be managed electronically.

Use of health information technology In 2007, steps were initiated at the federal level to prioritize information exchange for newborn screening test results for standards harmonization that enable information from various laboratory and patient care information systems to be interoperable.12 Following this work, interoperability specifications have been developed that enable developers of health information technology products to accommodate standards that will enable information to support a broad array of communities, including provider EHRs and laboratory information systems.13 The foundation for information exchange was further enhanced by the development of a common terminology coding and reference resource that includes all tests routinely used in public health screening for analytes, conditions screened for, and associated genetic variants that are used in newborn screening programs.14 In addition, a collaborative effort has been initiated to reach a consensus on the panel of analytes and analyte rations that constitute the complete and informative phenotypic description of each condition.15 Under the American Recovery and Reinvestment Act of 2009 (Health Information Technology for Economic and Clinical Health Act) incentives for meaningful use of certified EHRs will require capabilities in ambulatory and inpatient EHR that will create a large user community with the ability to accept newborn screening data electronically and with motivation to demonstrate meaningful use of EHR by participating in information exchange.16 Health IT standards that support information exchange must be implemented by vendors to have value to end users of the information, and networks for data exchange must be in place with appropriate security and privacy protections and governance for exchange to be feasible. The expansion of capabilities for EHR to accept electronic laboratory results and to send laboratory orders will assure that laboratories that comply with standards will have customers waiting to receive the data. Public health laboratories face special challenges implementing standards due to limitations in the public health informatics workforce. Connection of newborn screening programs and newborn screening laboratories to HIEs is essential for standards based result transmission and should be part of planning for state level HIEs. Medicaid has demonstrated the power of using reimbursement incentives for completing a defined program of screening activities through their Early Periodic Screening Detection and Treatment (EPSDT) program that has been in operation for many years.17 Although newborn screening is already part of the EPSDT program, an enhanced and targeted incentive program for electronic exchange of newborn screening data would enhance adoption and use of electronic information systems. Newborn screening is different from some other components of EPSDT and existing incentive programs for immunizations; it is a process that must be completed rather than a one-time event. Notification of patients and documentation of review of normal results are important components of the program. Some newborn screening activities require retesting outside of the newborn period for hearing impairment or for follow-up of hemoglobinopathies that cannot be clarified in the newborn period.

159 The effectiveness of newborn screening programs must be assessed on an on-going basis by collecting measures of how HIE can improve screening program performance through reminders and case tracking, referrals through identification of available resources and sharing complete data from previous screening, and longitudinal follow-up by creating a uniform initial database of information gathered at the time of screening. Electronic information capture can track the time between key events and establish available plans of care for emergency management. Comparisons of population data within and between screening programs can help to refine appropriate cutoff values for tests, compare the effectiveness of different testing methods, and assist the evaluation of proposed new tests.

Demonstrating the Value of Integrated Health Information in Newborn Screening: Case Studies on the Management of Maternal Phenylketonuria (PKU) and Sickle Cell Disease (SCD) Inability to access critical clinical information presents a significant problem in the management of patients who require close monitoring during pregnancy.18 In looking to the future, health information technology will enable interactive exchanges among the patients, primary care physicians, and specialists. One approach to demonstrate the clinical value of integrated health information in this setting is to provide an example of a complex obstetrical and pediatric case, such as a pregnancy complicated by maternal PKU. PKU, an autosomal recessive genetic disorder of the phenylalanine hydroxylase gene that affects 1 in 10,000 births that is manifested from reduced phenylalanine metabolism. Most infants of women affected with PKU do not themselves have the disease, but instead are carriers of the disorder. However, if maternal serum levels of phenylalanine are poorly managed during the pregnancy, there are increased risks for spontaneous abortion, microcephaly, congenital cardiac anomalies, poor intrauterine growth, and mental retardation. With optimum nutritional management, pregnancy in women with PKU can result in a healthy infant.19 There are over 3000 women in the United States of reproductive age with PKU and ⬎6000 pregnancies potentially could result in complications associated with maternal serum phenylalanine levels.20 Prenatal care management guidelines recommend that pregnant females with PKU be referred to a metabolic specialist or clinics for counseling regarding risks and outcomes. A hypothetical scenario of a pregnancy complicated by maternal PKU is provided here to demonstrate the users and help them in making decisions based on the information in this case. In the future, HIE will play a major role in supporting an integrated health care management team that includes the patient’s own participation.

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PKU Patient Care Scenario Jane was diagnosed at birth with PKU through newborn screening and is planning to become pregnant in the near future. Jane and her husband, John, consult with a genetic counselor to discuss their family health history. The counselor informs the couple that if John is a PKU carrier, their child has a 50% chance of having PKU. John is tested and learns that he is indeed a carrier. This information is captured electronically as a family health history pedigree for both Jane and John.21 In a detailed history taken by the counselor, it is noted that as a child, Jane was on a phenylalanine-restricted diet, but has not been monitoring her serum phenylalanine levels as an adult. In consultation with her gynecologist, Jane is referred to a nutritional counselor and an obstetrician who specializes in high-risk pregnancies. The nutritional counselor helps adjust Jane’s diet to achieve an optimal serum phenylalanine level of 100 to 250 ␮mol/L before conception to ensure normal cognitive development of the fetus. Jane monitors her serum phenylalanine 3 times a week using a portable handheld device that automatically populates her personal health record (PHR) set up through her home computer. Once pregnant, Jane receives standard prenatal care management under the guidance of her obstetrician, including maternal and fetal monitoring. She tests her blood glucose level and weight weekly at home using a portable blood glucose monitoring device and a scale that updates her PHR with data on blood glucose level and weight, respectively. Jane’s key micronutrient levels are also monitored every 6 to 8 weeks within an ambulatory setting and included in her EHR. At 40 weeks, Jane goes into labor and is admitted to the hospital. The obstetrician on-call accesses her health record to see most up-to-date clinical information, including serum phenylalanine level and blood glucose level. At term, Jane delivers a healthy infant and as part of standard neonatal care a heel-stick blood spot is sent for newborn screening, including a test for PKU. As a preventative measure, the infant= s nutritional support is provided using a phenylalanine-restricted diet at birth. At the 3-week neonatal visit, the pediatrician accesses his EHR and sees the hospital discharge summary, newborn screening test results, as well as the pertinent information about Jane’s PKU and associated serum phenylalanine levels during pregnancy. The test results show that James does not have PKU but is a carrier. Even though James does not have PKU, postnatal management of the infant includes a neurological assessment of at 4 to 8 weeks as well as neuropsychometric evaluations at 1 year, 4 years, 8 years, and 14 years of age as his mother has PKU. As illustrated by this case, significant effort is expended managing the diets of women with PKU planning to get pregnant or are pregnant to provide sound evidence for clinical decision-making during pregnancy. Ideally, as in Jane Smith’s

case, a phenylalanine-restricted diet is started before conception. However, in women who are already pregnant, a rapid lowering of the blood phenylalanine level is required. Patient management strategies aim to maintain blood phenylalanine concentrations within the target range of 100 to 250 ␮mol/L before and throughout the pregnancy, together with adequate maternal nutrition and appropriate weight gain.22 In cases where serum phenylalanine levels were not controlled for the entire pregnancy, an echocardiogram of the newborn is required. To ensure appropriate follow-up care for the infant, it is important for information about the mother’s phenylalanine levels during pregnancy be included in the infant’s EHR. Current patient management strategies for PKU mothers and their infants result in large volumes of patient data that need to be available in both the ambulatory care setting and the hospital in a timely fashion. This information needs to cover the mother as well as the unborn child from preconception through birth and beyond. This complex information flows between specialists, obstetrician, birth center, and postpartum care providers, such as pediatricians, creates challenges that can be addressed through the use of electronic HIEs to transfer health records, laboratory results, surgical notes, and order requests among the care providers. In addition, weight monitoring performed by the patient at home through a PHR and electronic information exchange could provide pertinent patient data to the physician on a real-time basis (Fig. 1). Use of these systems has been shown to allow for more effective and efficient reporting of abnormal results as communication occurs real-time with laboratories and hospitals, resulting in quick turnaround and fewer errors.23

SCD Patient Care Scenario SCD is an autosomal recessive group of genetic disorders characterized by the presence of sickle hemoglobin in red blood cells. Heterozygotic individuals are carriers; carrier status is generally thought of as a benign, asymptomatic state. Homozygous and some compound heterozygotic individuals have symptomatic disease. Four genotypes—sickle cell anemia (HBSS), sickle hemoglobin C disease, and 2 types of sickle ␤-thalassemia (S␤⫹-thalassemia and S␤°-thalassemia)—account for most SCD in the United States. Genes for SCD are common in persons of African, Mediterranean, Middle Eastern, and Indian ancestry and persons from the Caribbean and parts of Central and South America. Taken as a group, SCD is the most prevalent group of disorders identified by newborn screening, with over 2000 affected infants born in the United States each year.24 This is a hypothetical scenario highlighting the benefit of an EHR containing newborn screening information to guide future diagnosis and treatment. Alex was a 16-year-old star of his high school’s trackand-field team. During practice that afternoon Alex developed significant pain in his legs with running and then collapsed on the field. Alex was taken to the local emergency room where staff accessed his medical history

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Figure 1 Electronic information exchange supporting coordinated prenatal, postpartum, and infant care.

through an EHR system. Documented in his medical history were the results of his newborn screening test indicating that Alex was a carrier of SCD. There was no history of SCD in the family and Alex’s parents had no memory of Alex’s newborn screen. After consulting the medical history, emergency room staff was able to promptly treat Alex appropriately. For some conditions like SCD or cystic fibrosis, newborn screening can identify newborns who are carriers. Sharing this information with families is critical. Parents should consider that they both may be carriers, which would have implications for future child planning issues. Similarly, children should have information that they are carriers, especially as they enter adolescence. Communicating this information in a way that it can be used is challenging but important. Finally, as indicated in the discussed case being a carrier is not always benign, and therefore this information needs to follow the child throughout his or her life, emphasizing the need for transportable and easy accessible health information— both for the parents/patient as well as the physicians For example, children with SCD are at risk for exertional rhabdomyolysis. As newborn screening expands, it is likely that more will be learned about the association between being a carrier and the development of specific conditions. Primary care providers should assure that any identified carrier state is well-marked in the child’s medical record and that a review be made annually of new information, regarding the relationship between that carrier state and health outcomes. An electronic prenatal record should be the first area of clinical automation in many practices due to the greater need for information exchange during a finite period in obstetrics

compared with other clinical areas. This record should seamlessly tie in with the EHR of the mother as well as the EHR of the newborn. By facilitating electronic exchange during this critical period in the life of both mother and baby, a major impact can be made on the ability of all providers to make good care decisions through the availability of comprehensive clinical information.

Conclusions In looking to the future, opportunities for implementing newborn screening programs will continue to proliferate but will be constrained in their effectiveness and limited by costs without the ability to integrate, deliver, and apply information across an increasingly decentralized health care delivery setting. The implications of the policy and infrastructure development today will be reflected in the years to come by new and more effective communications among clinicians and with patients. Obstetrical practices will benefit from more comprehensive prenatal diagnostic and clinical management information available within their offices and at delivery centers. Information management will be aligned to enable consultants and primary care providers to be linked in supporting patient care management and decision-making. For pediatricians, newborn screening information and other supporting information from the pregnancy and postnatal period will be available at the first patient care visit. Patients and their caregivers will have PHRs and other tools to facilitate communications with their health care providers. In the end, more information, managed in timely and useful ways, will

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162 be structured electronically to help in the care delivery system. For newborn screening programs of the future, the benefits of early detection, longitudinal follow-up, and development of new interventions for rare conditions will likely come from the use of EHR systems and virtual registries to support research and outcomes. Although the infrastructure and technology to support information exchange are unfolding, the capacity to evaluate the effectiveness of interventions for rare diseases will also expand. Further, the integration of genetic risk, prenatal testing, and postnatal management will be important facets of integrated health maintenance programs that foster prevention and early intervention. Finally, the HIE framework will enable new approaches for evidence development, guiding the use of appropriate dietary, medical, and behavioral interventions; underpin the use of clinical decision support that accommodates individualized treatment regiments and lifestyle management; and provide patient and family support for applications of medical knowledge.

References 1. Arn P: Newborn screening: Current status. Health Aff Millwood 26: 559-566, 2007 2. Newborn Screening Saves Lives Act of 2008 (HR 3825). Public Health Service (PHS) Act, 42 U.S.C. 300b-10. Report No. 110-570 3. Watson M, Mann M, Lloyd-Puryear M, et al: Newborn screening: toward a uniform screening panel and system. Genet Med 8:1s-250s, 2006 4. Hsieh SH, Hsieh SL, Chien YH, et al: Newborn screening healthcare information system based on service-oriented architecture. J Med Syst (in press) 5. Downs SM, van Dyck PC, Rinaldo P, et al: Improving newborn screening laboratory test ordering and result reporting using health information exchange. J Am Med Inform Assoc (in press) 6. US Department of Health and Human Services: Nationwide Health Information Network (NHIN): background and scope. Available at: http://healthit.hhs.gov/portal/server.pt?open⫽512&mode⫽2&cached⫽ true&objID⫽1142. Accessed October 20, 2009 7. Brinner KA, Downing GJ: Advancing patient-centered pediatric care through health information exchange: update from the American Health Information Community Personalized Health Care Workgroup. Pediatrics 123:S122-S124, 2008 (suppl 2) 8. US Government Printing Office: American Recovery and Reinvestment Act of 2009. Available at: http://www.gpo.gov/fdsys/pkg/PLAW111publ5/content-detail.html. Accessed October 14, 2009 9. American College of Medical Genetics (ACMG): Newborn screening ACT sheets and confirmatory algorithms. Available at: http://www.

10.

11. 12.

13.

14.

15.

16. 17.

18.

19.

20. 21.

22. 23.

24.

acmg.net/resources/policies/ACT/condition-analyte-links.htm. Accessed October 14, 2009 Genetic Alliance: Pioneering HHS HRSA Grant Funds Establishment of First National Newborn Screening Clearinghouse. Available at: http:// www.geneticalliance.org/ws_display.asp?filter⫽pr.clearinghouse. Accessed October 14, 2009 US Surgeon General’s “My Family Health Portrait”. Available at: https:// familyhistory.hhs.gov/. Accessed October 14, 2009 Glaser J, Henley DE, Downing G, et al: Personalized Health Care Workgroup of the American Health Information Community. Advancing personalized health care through health information technology: an update from the American Health Information Community’s Personalized Health Care Workgroup. J Am Med Inform Assoc 15:391-396, 2008 US Department of Health and Human Services: Office of the National Coordinator for Health Information Technology, Newborn Screening AHIC Detailed Use Case December 31, 2008. Available at: http:// healthit.hhs.gov/portal/server.pt/gateway/PTARGS_0-10731_8481230_0-18/NBSDetailedUseCase.pdf. Accessed October 14, 2009 US National Library of Medicines. Newborn Screening Coding and Terminology Guide, Data Standards for Electronic Reporting. Available at: http://newbornscreeningcodes.nlm.nih.gov/. Accessed October 14, 2009 Region 4 Genetics Collaborative: MS/MS Data Project. Available at: http://www.region4genetics.org/msms_data_project/data_project_home. aspx. Accessed October 14, 2009 Blumenthal D: Stimulating the adoption of health information technology. N Engl J Med 360:1477-1479, 2009 US Department of Health and Human Services, Health Resources and Services Administration: The Early Periodic Screening, Diagnosis, and Treatment (EPSDT) Program. Available at: http://www.hrsa.gov/epsdt/. Accessed October 14, 2009 Miller DW, Yeast JD, Evans RL, et al: Missing prenatal records at a birth center: a communication problem quantified. AMIA Annu Symp Proc 535-539, 2005 Rouse B, Lockhart L, Matalon R, et al: Maternal phenylketonuria pregnancy outcome: a preliminary report of facial dysmorphology and major malformations. J Inherit Metab Dis 13:289-291, 1990 Krishnamoorthy U, Dickson M: Maternal phenylketonuria in pregnancy. The Obstetrician Gynaecologist 7:28-33, 2005 Feero WG, Bigley MB, Brinner KM: New standards and enhanced utility for family health history information in the electronic health record: an update from the American Health Information Community’s Family Health History Multi-Stakeholder Workgroup. J Am Med Inform Assoc 15:723-728, 2008 Maillot F, Cook P, Lilburn M, et al: A practical approach to maternal phenylketonuria management. J Inherit Metab Dis 30:198-201, 2007 Electronic information exchange is critical to closing the gap in health care reform. Available at: http://www.pitchengine.com/atlantawomen sspecialists/electronic-information-exchange-is-critical-to-closing-the-gapin-health-care-reform/24068/. Accessed September 23, 2009 National Newborn Screening and Genetics Resource Center. Available at: http://genes-r-us.uthscsa.edu/. Accessed October 20, 2009