Judith Livingston

Integrating genetic services into public health--guidance for state and territorial programs from the National Newborn Screening and Genetics Resource Center (NNSGRC).

aDepartment of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, Tex., bDepartment of Pediatrics and Medical Genetics, University of Wisconsin, Madison, Wisc., cMaternal and Child Health Bureau, Health Resources and Services Administration, Rockville, Md., dDepartment of Pediatrics, UCLA School of Medicine, Los Angeles, Calif., eCenter for the Society, the Individual and Genetics, UCLA, Los Angeles, Calif., fNational Newborn Screening and Genetics Resource Center, Austin, Tex., USA

Becoming Better Health Care Providers: Outcomes of a Primary Care Service-Learning Project in Medical School

SUMMARY Medical educators have begun to embrace service-learning as a method for teaching medical students to be more socially responsible, patient-oriented practitioners. However, research documenting the learning outcomes of service-learning in medical education is limited. In this paper, written documents generated through evaluation of a mandatory, structured community service-learning experience were analyzed qualitatively to discover the diverse learning outcomes among 24 students who participated in the experience. Preliminary findings indicate that students developed skills and attitudes directly related to competencies of concern in most U.S. medical programs. These preliminary findings may help other programs articulate learning outcomes for their service-learning programs. Further, these preliminary findings may stimulate more systematic research (qualitative and quantitative) in this area.

Proximity of pediatric genetic services to children with birth defects in Texas

BACKGROUND Families of children with major structural malformations often benefit greatly from genetic services. However, these services may not be readily available in all areas. The purpose of this study was to use data from a statewide birth defects registry and geographic information system methodology to compare the spatial distribution and to summarize the distance of pediatric clinical genetic service providers in relation to residential addresses of children with selected birth defects in Texas. METHODS Live-born children delivered between 1999-2004 in the Texas Birth Defects Registry with major structural defects and chromosomal anomalies were selected by a clinical geneticist according to diagnosis code. Mothers address at delivery of the case infants was geocoded as was the location of offices where clinical geneticists in Texas see pediatric patients. Using geographic information system tools, the authors then computed distance from each case mothers residence to the location of the nearest office where pediatric patients can be seen by clinical geneticists, summarized these distances, and graphically plotted the location of each case in relation to the nearest provider. RESULTS Nearly 25,000 Registry cases met the criteria for selection for geocoding. Of those, 22,875 (91.8%) were successfully geocoded to street level. CONCLUSIONS Although 82% of addresses were within 30 miles of the nearest pediatric genetic clinic, 14% lived 31-100 miles from the nearest facility, and 4% of case families would need to drive more than 100 miles, including some who live in midsized cities, indicating geographic disparities in access to these necessary services.

Newborn intensive care survivors: a review and a plan for collaboration in Texas

BackgroundNeonatal intensive care is a remarkable success story with dramatic improvements in survival rates for preterm newborns. Significant efforts and resources are invested to improve mortality and morbidity but much remains to be learned about the short and long-term effects of neonatal intensive care unit (NICU) interventions. Published guidelines recommend that infants discharged from the NICU be in an organized follow-up program that tracks medical and neurodevelopmental outcomes. Yet, there are no standardized guidelines for provision of follow-up services for high-risk infants.The National Institute of Child Health and Human Development Neonatal Research Network and the Vermont Oxford Network have made strides toward standardizing practices and conducting outcomes research, but only include a subset of developmental follow-up programs with a focus on extremely preterm infants. Several studies have been conducted to gain a better understanding of current practices in developmental follow-up. Some of the major themes in these studies are the lack of personnel and funding to provide comprehensive follow-up care; feeding difficulties as a primary issue for NICU survivors, families, and programs; wide variability in referral and follow-up care practices; and calls for standardized, systematic developmental surveillance to improve outcomes.FindingsWe convened a one-day summit to discuss developmental follow-up practices in Texas involving four academic and three nonacademic centers. All seven centers described variable age and weight criteria for follow-up of NICU patients and a unique set of developmental practices, including duration of follow-up, types and timing of developmental assessments administered, education and communication with families and other health care providers, and referrals for services. Needs identified by the centers focused on two main themes: resources and comprehensive care. Participants identified key challenges for developmental follow-up, generated recommendations to address these challenges, and outlined components of a quality program.ConclusionsThe long-term goal is to ensure that all children maximize their potential; a goal supported through quality, comprehensive developmental follow-up care and outcomes research to continuously improve evidence-based practices. We aim to contribute to this goal through a statewide working group collaborating on research to standardize practices and inform policies that truly benefit children and their families.

The Nurse Champion Model for Advancing Newborn Screening of Critical Congenital Heart Disease

Critical congenital heart disease (CCHD) is the leading cause of death in infants younger than age one year in the United States. Early detection and timely intervention can significantly reduce newborn morbidity and mortality. In Texas, nurse champions provided leadership to develop an educational program to screen newborns for CCHD using pulse oximetry. Results demonstrated the value of nurse champions in creating an effective educational program. Nurses are positioned to educate and advocate for universal CCHD newborn screening.

Tracking clinical genetic services for newborns identified through newborn dried bloodspot screening in the United States—lessons learned

To determine how US newborn dried bloodspot screening (NDBS) programs obtain patient-level data on clinical genetic counseling services offered to families of newborns identified through newborn NDBS and the extent to which newborns and their families receive these services. These data should serve to inform programs and lead to improved NDBS follow-up services. Collaborations were established with three state NDBS programs that reported systematically tracking genetic counseling services to newborns and their families identified through NDBS. A study protocol and data abstraction form were developed and IRB approvals obtained. Data from three state NDBS programs on a total of 151 patients indicated that genetic services are documented systematically only by metabolic clinics, most often by genetic counselors. Data from 69 endocrinology patients indicated infrequent referrals for genetic services; as expected higher for congenital adrenal hyperplasia than congenital hypothyroidism. Endocrinology patients were often counseled by physicians. While systematic tracking of genetic counseling services may be desirable for quality assurance of NDBS follow-up services, current systems do not appear conducive to this practice. Clinical records are not typically shared with NDBS programs and tracking of follow-up clinical genetic services has not been generally defined as a NDBS program responsibility. Rather, tracking of clinical services, while recognized as useful data, has been viewed by NDBS programs as a research project. The associated IRB requirements for patient-related research may pose an additional challenge. National guidance for NDBS programs that define quality genetic service indicators and monitoring responsibilities are needed. US experiences in this regard may provide information that can assist developing programs in avoiding tracking issues.

Perceptions of Mexican American Clients Receiving Genetic Services in South Texas

Objectives: The objectives of this study were to assess the perceptions among medically indigent Mexican American clients in South Texas receiving genetic services, and the effects of these perceptions on the utilization of genetic services. Methods: Using a qualitative ethnographic approach, 16 caretakers of children with genetic conditions and 7 prenatal clients were interviewed. Interview data were analyzed using the NUD*IST 4 computer program. Results: Clients reported challenges with understanding and utilizing genetic services due to language and communication barriers, poverty, cultural differences, and system issues. Conclusion: Client perceptions of genetic services were influenced by experiences with other biomedical providers and traditional healers, and by anxieties precipitated by unfamiliar concepts and approaches to medical care. Recommendations are made to improve provision of genetic services.