NEGC Annual Meeting: April 7-8, 2016
Hilton Garden Inn, 100 High Street, Portsmouth, New Hampshire
Click on links below for slides.
Videos are available for many of the presentations
(closed captions are available; click on "CC")
Medical Home Work Group
- Overview of activities, Greg Prazar, MD
Education and Outreach Work Group
- Overview of GEMSS Usage, Leah Burke, MD
- GEMSS Training Materials for Higher Education Classes: From Creation to Evaluation, Erika Baril, MA, CCC/SLP
- GEMSS Action Group
Health Care Access and Finance Work Group
- Overview of activities, Meg Comeau, MHA
- "I Have a Complaint" - What the Maine Bureau of Insurance can do about it, Violett Hyatt, RN
Transition Work Group
- The Transition Stages of Transition, Susan Waisbren, PhD
- Defining Co-morbidities in Adults with Inborn Errors of Metabolism, Farrah Rajabi, MD
- NCC Care Coordination Work Group, Megan Lyan, MPH
Quality Improvement Work Group
A moment of remembrance for Sondra Solomon, Leah Burke, MD
Programmatic and Ethical Implications of Integrating Next Generation Genomic Sequencing into State NBS Programs, Aaron Goldenberg, PhD, Assoc.Professor of Bioethics, Case Western Reserve University
Video recording / Slides
NewSTEPs: A View of Newborn Screening Nationally and Regionally with an Eye to the Future, Thalia Wood, MPH, Association of Public Health Laboratories
Genetic Metabolic Center for Education, Mark Korson, MD
Future Models of the NCC/RC Network, Celia Kaye, MD, PhD; Chair, Regional Support Services Model work group
Education & Outreach Work Group
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
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.
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
Monica McClain, PhD NEGC Co-Director
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
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
Education & Outreach Work Group (agenda)
- Overview and Updates - Leah Burke, MD; Christine Giummo, CGC, Ann Dillon, OTR/L
- Analysis of GEMSS Survey - Andy Gray, UNH LEND Trainee
- QI data from Developmental Delay Registry from - Monica McClain, PhD
Advisory Committee meeting (agenda)
- NEGC 2013 Stakeholder Survey - Peter Antal, PhD
- Genomics and the Electronic Health Record - Marc Williams, MD
- Implementing a Whole Genome Sequencing Clinical Research Study - Janet Williams, MS, LGC
- Genetics in Primary Care Institute - Natalie Mikat-Stevens, MPH
Hilton Garden Inn, Portsmouth, NH
View pictures of the Event here
- Medical Home & Transition Work Groups
- Education & Outreach Work Group
- Health Care Access and Finance Work Group
- Quality Improvement Work Group
- Streamlining Care for VOE in the Pediatric Emergency Department; Patricia Kavanagh, MD; HRSA Sickle Cell Disease and Newborn Screening Program, Boston Medical Center
- Laboratory and Clinical Challenges of Whole Genome/Exome Sequencing; David Miller, MD, PhD; Children's Hospital Boston
- Implications of Genome Sequencing on Public Health: Promise and Pitfalls; Susan Hahn, MS, CGC; Hussman Institute for Human Genomics; University of Miami
- NewSTEPS: Newborn Screening Technical assistance and Evaluation Program; Marci Sontag, PhD; Colorado School of Public Health and Chilldren's Hospital Colorado
- NCC Updates; Alisha Keehn, MPA, NCC Project Manager
- Genetic Alliance Updates; Sharon Romelczyk, MPA, National Genetics Education & Consumer Network
The NEGC held a very successful annual meeting. Click on the presentations below.
- Carol Orton, RN, UMass, Boston nursing program (Medical Home/Transition work group)
- Bill Kubicek, Next Step (Medical Home/Transition work group)
- Tara Biaga, MS, Genetic Alliance (DEM work group)
- Patricia Kavanagh, MD, MS, Boston Medical Center (LTFU work group)
- Meg Comeau, MHA, The Catalyst Center (general meeting)
- Peter Antal, PhD, NEGC Evaluator (general meeting)
All agreed that we had the benefit of more time, more space, and more stakeholders with varied expertise. The NEGC staff would like to thank everyone who participated!
We continued to work with New England Regional Genetics Group (NERGG) on a collaborative session on Transition during their annual conference on December 1-2, 2001.
- Carl Cooley and Susan Waisbren were featured speakers. Dr. Waisbren's presentation, Transition as a Psychological Rite of Passage, reflects her current think about why transition is so difficult, and why it presents an opportunity!
- Deanna Holt and Mallory Cyr provided the young adult perspective, and folks from CMHI presented on Got Transition! (photo)