Projects 2007-2008
Expanded Newborn Screening: If we offer it, will they come?
Principal Investigator: H. Gene Hallford, M.A.
Position: Clinical Instructor
Institution: OU Health Sciences Center, Department of Pediatrics, Section of Genetics
Project Summary:
With the advent of reliable and cost-effective testing for phenylketonuria in the 1960s, states have required newborn screening (NBS) for a growing number of heritable, but treatable disorders. NBS has become a standard element of newborn care. Today, more than 4 million newborns are screened each year for a variety of heritable disorders. Recent advances in technology make it economically feasible to screen for more than 50 disorders, requiring no more than one blood spot from each child, which is universally available. The number of disorders screened for, however, varies widely between states; Arkansas and Kansas offer less than five while the District of Columbia offers 53. Adoption of screening for additional disorders is subject to the will of state lawmakers, healthcare providers and public opinion. Within the Heartland region, three states have not yet implemented the expanded screening panel; Arkansas, Kansas and Oklahoma, though Kansas is poised to pass the legislation and begin this testing next year. This project proposes to hold Town Hall-style meetings in Arkansas and Oklahoma to accomplish the following goals: 1) provide information about the potential benefits of implementing expanded newborn screening to young adults, likely to use these services; 2) identify misunderstandings, areas of concern and barriers to the support and implementation of expanded newborn screening; 3) provide information about genetic testing, genetic counseling and related services that are available within the state; and, 4) identify misunderstandings, areas of concern and barriers preventing the full utilization of available genetic services.
Town Hall Meetings: Expanded Newborn Screening: If We Offer It, Will They Come? Slides from presentation at 2007 Annual Heartland Meeting in Oklahoma City.
Genetic Testing for Maple Syrup Urine Disease in Mennonite Communities
Principal Investigator: Charlotte L. Phillips, PhD
Position: Associate Professor
Institution: University of Missouri-Columbia
Project Summary:
Maple Syrup Urine Disease (MSUD) is a recessive genetic disorder resulting from defects in the branched chain a-keto acid dehydrogenase complex (BCKAD). Infants with classic MSUD appear normal at birth, but can die within 2-3 weeks if untreated. Although generally rare (1:200,000 births), the incidence of MSUD in certain Mennonite communities is quite high (1:150 live births), and results from a specific defect (Y438N) in the BCKAD E1a subunit gene. Early detection and treatment are critical to favorable prognosis for MSUD patients, yet there is no commercial or state DNA testing available. Though newborn screening by MS-MS is available in 5 of the 8 Heartland states, it requires testing be delayed until branched chain amino acids accumulate, increasing an infant's risk of neurological damage.
We have successfully demonstrated the benefit of DNA testing in identifying MSUD infants prior to clinical onset in two Missouri Mennonite communities. We propose to improve our DNA based carrier and newborn diagnostic test for the Y438N E1a allele, and to expand and provide testing to identify families at risk for MSUD and to diagnose affected infants prior to development of clinical disease by: 1) identifying Mennonite communities and families at risk for MSUD through contacting and surveying regional Metabolic Genetic Clinics and Mennonite communities in the Heartland States, 2) coordinating genetic counseling and access to carrier testing and newborn screening by collaborative efforts between the University of Missouri and the Heartland State Medical Genetic Clinics via telemedicine, and 3) providing pilot screening and testing of 150 at risk individuals for the Y438N E1a allele and evaluating two DNA diagnostic methodologies to improve the efficacy, cost, and speed of testing.
Heartland MSUD Pilot Project in AP News
Charlotte Phillips Maple Syrup Urine Disease (MSUD) project has been written up by the Associated Press news. Articles have appeared in the Columbia Daily Tribune and on line.
Maple Syrup Urine Disease in Mennonites slides from presentation at 2007 Heartland Annual Meeting in Oklahoma City.
Heartland Multi-State Teratogen Education Project
Co-Principal Investigators: Beth Conover, MS and G. Bradley Schaefer, M.D.
Positions: Genetic Counselor and Medical Director
Institution: University of Nebraska Medical Center, Munroe Meyer Institute
Project Summary:
The region served by the Heartland Genetics and Newborn Screening Collaborative has limited access to teratogen information and services. There is currently only one state with a Teratology Information Service (TIS), and even in that state minorities and women of lower socioeconomic status do not always access the TIS. We plan to increase access to information on hazardous exposures in pregnancy and breastfeeding for women in the Heartland Region. An emphasis will be made on targeting under served populations, filling gaps in services, and addressing currently unmet needs. The plan includes:
- Producing a notebook of teratology fact sheets,
- Offering this notebook to all public health clinics in the Heartland Region through a mailing list obtained from state genetics coordinators
- Publicizing the phone number of the local Teratology Information Service, or the OTIS 800 number that routes calls to a TIS volunteering to cover that state
- Evaluating the project via a survey sent to recipients of notebook./fact sheets
- Updating the Heartland web site to include information on regional and national teratology services
- Presentation of the model and evaluation results at the next Heartland regional meeting as well as at the next OTIS national meeting.
The timeline for completion is one year.
Teratogen Resource Project slides from Heartland Multi-State Teratogen Education Project presentation at 2007 Annual Heartland meeting in Oklahoma City.