Portsmouth, NH
Day 1:
Education & Outreach Work Group
"Parent Voices", Ann Donahue Dillon, UNH Institute on Disability
Summary: The meeting began with an update on the Genetics Education Materials for School Success (GEMSS) website, which now features 37 conditions and gets roughly 15,000 hits a month worldwide. This past year we enhanced content for autism, updated content about communication, made it easier to find certain topics, created a promotional video, and became mobile-optimized. Leah invited Ann Dillon and her group of enthusiastic parent volunteers to share the work they did in disseminating GEMSS. They even created a model slide set that could be adapted by other parents in the future.The group had a good discussion about adding “DNR” (do not resuscitate) content to the website, and also about sustainability. One project for the coming year will be finalizing a “Rare Toolkit” on IEP/504 Plans, with Global Genes.
Medical Home Work Group
Summary: This was the first face-to-face meeting of our redesigned work group. Kudos to Jill Rinehart and Marinell Newton for driving through a Vermont blizzard to get there! Dr. Prazar began with an overview of the webinar series on care coordination developed by the group. (Webinars are archived here.) Our primary partners thus have been pediatric improvement programs in ME, NH and VT. However, engaging the other NE states is on the wish list so this was a topic for discussion. Finally, the group focused on helping children with complex and behavioral issues, previously identified as being a challenging area for physicians.
Health Care Access & Finance Work Group
"Health Policy and Advocacy Workshop", Gabrielle Orbaek White, Community Catalyst
Summary: This group planned their agenda to include an educational piece, work time, and brainstorming. Meg welcomed Gabrielle Orbaek White, from Community Catalyst in Boston, to present on Health Policy and Advocacy. This was a perfect fit for the group, which included not only Family Voices representatives who routinely advocate for CSHN, but two young adults heading to DC the following week in their own advocacy journeys! After lunch, the group finalized its survey and the dissemination plan. Recall this is the group’s 2nd survey of NE families of children with genetic conditions, regarding coverage and access to health care. We expect to disseminate it in Aug/Sept 2015.
Transition Work Group
"Regional and National Update", Susan Waisbren, Children's Hospital Boston
"Adult Health Issues", Farrah Rajib, Children's Hospital Boston
"Emotional Intellience on the Go", Elizabeth Donovan, Bodimojo
Summary: After reviewing what’s happening with transition in the region and nationally, Susan introduced Dr. Farrah Rajabi, Children’s Boston, who provided an update on the Health Survey for Adults. This has been a project of the work group for the past two years and now has data to report. They are still recruiting! Susan then welcomed guest speaker Liz Donovan from Bodimojo. Dr. Donovan introduced her app, part of an innovative approach to obtaining quantitative data regarding “light touch” wellness interventions. The possibility of using this model to measure a successful transition generated a great deal of interest, particularly from folks at Next Step who are tech savvy and innovative themselves. More to come! In planning for the future, we determined to “do what we do well”, an idea endorsed by John Moeschler.
Quality Improvement Work Group
Summary: Seven clinical sites were represented at the QI meeting, including some who have collected data for the QI data registry project for years, and some who are gearing up to collect data. Each of the sites gave a status update, prompting discussions ranging from how to define a term to what is the feasibility of doing the work. The consensus was to continue doing what we’re doing, and to plan a follow up session at the Consortium of Metabolic Programs annual meeting, hosted by Susan Waisbren, in the fall.
Day 2:
NEGC Advisory Committee Meeting
Summary: Our Advisory Committee focused on the national context for HRSA, National Coordinating Center (NCC), and the Regional Collaborative (RC) system. Recall that in June 2015, we began year 4 of a 5 year funding cycle. Our charge now is to prepare for the next 5-year funding cycle, in a healthcare environment that is changing rapidly:
Alternative payment models will grow
Less care will be provided in hospitals and physicians’ offices
Precision medicine initiative is coming of age
We were asked by Joan Scott, HRSA, and David Flannery, NCC, to consider these questions:
How do you define genetic services?
What genetic service need is not being met?
How might this need be met?
How might regional care center models figure into the process?
Although still under development, we can anticipate:
Reduced funds but what remains is similar
Change in NCC work groups (addition of Public Health and Direct Care Services, no longer able to support
Medical Home and Transition work groups in the same manner)
Increased focus on quantitative health outcome data
Opening Remarks
Monica McClain, PhD NEGC Co-Director
Plenary Session
ELSI Considerations and IRB Responses to
Genomic Sequencing in the General Newborn Population
Caroline Weipert, MS; Brigham and Women’s Hospital
Meghan Towne, MS, CGC ; Manton Center
Living with Distinction:
The Psychosocial Correlates of Genetic Disorder Related Stigma
Sondra Solomon, PhD
"Welcome to Holland": the Impact on Parents of a Diagnosis of CCHD
Joanna Fanos, PhD
HRSA Updates
Joan Scott, MS, CGC
National Coordinating Center/Regional Collaboratives Updates
David Flannery, MD
Work Group Chair Reports
Wrap-up and Closing Remarks
Monica McClain, PhD and John Moeschler, MD NEGC Co-Directors
NERGN Annual Meeting, May 16-17, 2019
NEGC Annual Meeting: April 7-8, 2016
A moment of remembrance for Sondra Solomon, Leah Burke, MD
