January 2011 

Dear NEGC Partner,

We are excited to have ended 2010 on some very positive notes. Our annual meeting, which was held December 1^st, highlighted all of the NEGC activities and provided updates from HRSA, the National Coordinating Center of the seven Regional Collaboratives, and the Newborn Screening Translational Research Network. During this meeting, there were also three breakout sessions (New England Birth Defects Consortium, genetic counselors, and families/advocates) that generated lively discussions and lists of priority areas/issues that will be further discussed in 2011. Also on December 1^st, the new NEGC web site was launched. If you haven’t already, check it out at: www.negenetics.org.  We welcome all feedback, suggestions, and suggestions for resources, “did you know”, events, and links.

Dissemination, Education and Marketing

A poster presentation on “Children with Genetic Conditions: A Guide for the Classroom” was made at NCHPEG in September by Leah Burke, MD. Efforts are underway to put this tool into an electronic format suitable for use on a website. The disorders that have been selected for initial inclusion are: PKU, 22q deletion, sickle cell disease, fatty acid oxidation disorders, and Fragile X. Learn more.

Medical Home and Transition

The Medical Home and Transition Pilot Study is designed to facilitate health care follow through between specialists, primary care providers, and families.  The care planning tool was introduced at the annual meeting of the New England Consortium of Metabolic Programs in November. Discussion has begun around broadening the scope of the care plan for the lifespan. Learn more.

Quality Improvement

Global Vision Technologies has implemented the data registry for the clinics participating in the QI project around children referred for developmental delays.  This project is focused on understanding patient needs, care processes, and needed areas of improvement. Data input at Dartmouth has begun. The other sites are in the IRB submission process. Learn more.

The Metabolic Centers Quality Improvement Learning Collaborative has scheduled the three learning collaborative sessions in 2011, and invitations have been sent out to all metabolic clinicians in New England. Learn more.

Emergency Preparedness

The New England region is preparing for an Emergency Preparedness conference, to be held April 1 at the Warren Conference Center & Inn in Ashland, MA. Guest presenters include William Perry, emergency preparedness consultant to the National Coordinating Center, Stan Berberich, Program Manager of Medical Screening at the University of Iowa, and Hans Andersson, Director of Hayward Genetics Center at Tulane University School of Medicine.

LTFU

Regional LTFU initiativesenable better identification and follow-up of children born with genetic conditions in the New England region.  Partnership building is continuing to develop with Vermont and Rhode Island.  The Hemoglobin subgroup held a meeting that featured national experts on September 16, 2010 titled “Surviving to Thriving: Improving long-term outcomes in sickle cell disease”. This meeting was very well attended and focused on medical home and transition for individuals with Sickle Cell Disease. Guest speakers included Althea Grant, PhD (CDC), Richard Lottenberg, MD (UFlorida), James Eckman, MD (Emory), Kathryn Hassell, MD (UColorado), and Joseph Telfair, DPh, (UNC-Greensboro).

Genetic Workforce study

This study was designed to assess the capacity of the genetic workforce in New England to deal with expanded newborn screening. The final draft report was completed in October, and Robert McGrath, PhD, from UNH’s Department of Health Management and Policy gave a presentation titled “Caring for children with metabolic disorders: early evidence from the genetic workforce project”, in a NEGC/NERGG collaborative session at the NERGG annual meeting on December 2^nd. This project report will be posted to the NEGC web site in the near future.

Legal Issues in Health Information Technology and Exchange

The final draft of “State laws of New England: use and disclosure of genetic and newborn screening information for the purposed of treatment, a registry, and research” was completed in October by Michelle Winchester, JD from UNH’s School of Law. A brief synopsis of this report was presented at the NEGC annual meeting on December 1^st. Click here to read the full report.

NEGC Reports

Two NEGC reports have recently been completed by Peter Antal, PhD, NEGC Project Evaluator. The stakeholder survey offers insights into the performance and next steps for the NEGC. The Project Year Three Evaluation Report covers the NEGC activities from June 1, 2009 to May 31, 2010.

Best wishes for a productive and successful 2011!

Monica McClain
NEGC Project Manager