New England Consortium of Metabolic Programs
Susan Waisbren, PhD
Project Leader

Activities to evaluate and improve practice models in newborn screening follow-up for metabolic disorders

1. The Benchmarks for Fairness evaluation system provides an approach to assessing newborn screening reform. Adapted from work done by Norman Daniels, from the Harvard School of Public Health, the Benchmarks focus on equity in financing, efficiency in allocation of resources and autonomy for consumers. Three workshops, with over 20 participants at each, were held the first year of the grant. Then, over 60 stakeholders including newborn screening program directors, providers from the metabolic centers, personnel from screening laboratories, pediatricians, obstetricians, nurses at maternity wards, prenatal educators, genetic counselors, parents and others were contacted.  On-line resources for each New England state and other relevant websites were reviewed for information on newborn screening education and practices.  The March of Dimes and other advocacy organizations were consulted.  Finally, published and unpublished studies as well as educational and informational materials produced by each state were reviewed.  During the second year of the grant, a follow-up meeting was held that provided an opportunity for stakeholders with diverse responsibilities and interests to comment on the preliminary data. Currently revised benchmarks with indicators specific to newborn screening and follow-up are being developed along with a manuscript that will describe this novel assessment method.
           

2. Publication of article on survey results from pediatricians. (Gennaccaro M, Waisbren SE, Marsden D.The.Knowledge Gap in Expanded Newborn Screening: Survey results from paediatricians in Massachusetts.J Inherit Metab Dis. 2005;28(6):819-24.)  Survey results from 190 pediatricians indicated that:
14% unaware of expanded newborn screening
42% reported feeling less than prepared talking about test results with families
54% indicated a lack of information about metabolic disorders
73% preferred information sent in postal mailings
34% preferred grand rounds
33% preferred educational seminars
32% preferred websites.
< 30% included email.
The majority of pediatricians preferred unsolicited periodic mailings including short reviews and brochures.  This survey forms the basis for continued efforts in improving follow-up for expanded newborn screening.

3.Transition to Adult Care: The New England Consortium and a Subcommittee from NERGG will be working together to develop a program for teens and young adults with metabolic disorders. Focus groups with stakeholders will be held and a “tool kit” will be Working with parent network – Snowy Owl

4. Other activities of the New England Consortium
Through the New England Consortium in collaboration with the National Genetics and Newborn Screening Collaboratives, and the Society for Inborn Metabolic Disorders, detailed treatment protocols are being developed.  In addition, through the Consortium, 
a summer camp experience for children with PKU and other metabolic disorders will continue for its 8th year, a new teen challenge program will be organized, and collaboration on long-term follow-up for children identified by expanded newborn screening will continue.

http://www.childrenshospital.org/newenglandconsortium/