Advisory Committee – Summary
October 5, 2012
Durham, NH
Participants: 23 attended (5 by phone). Included representation from each New England State, young
adults, service providers, families, and public health. Please see the meeting minutes for details.
Next Steps

Make a list of and outreach to multiple identified groups re: GEMSS resource (special educators,
early educators, school nurses, physicians, family groups,etc.)

Dr. Smith to share experiences on transition work with Judy Shaw

Continue discussion around identifying major transition points across the lifespan and role that
the NEGC can take on in supporting improvements in each area. Potential focus on continuity of
services, with awareness of differing interpretations from children and parents.

HAF group - as work expands into second stage of research coordinate data collection efforts
with advisory council members and major groups from each state in the region

NEGC/LEND: committee will define their next steps then outreach to Advisory Committee
members and other groups to seek additional supports as needed

Continue to develop inclusion methods for effective youth participation: defining youth roles,
helpful supports, accessibility, training. If NEGC provides grants in the future, consider role of
youth involvement in the grant review

Deborah Masland would like guest speakers to help some of her groups

Consider expanding Committee membership to include insurers, big employers, racial, ethnic,
and income groups, individuals with genetic conditions

Consider how we can engage in national discussion on cost and quality - how do we make the
case that investment for services can reduce cost and add quality?

Recognizing that many conditions that are not "observable" may not get much attention, what is
the NEGC's role in improving public awareness and directing attention?
Overview of activities from the last grant cycle (ending May 31, 2012)
Monica McClain provided an overview of Innovative Projects, for which the advisory committee
reviewed applications last June.

New paradigm of integrated home care management for adults with sickle cell; 18 adults
recruited; panel presentation last week at national meeting

Living with Lynch Syndrome, May 11, 55 attendees

Assessing Implications of Affordable Care Act; included recommendations

In addition 3 Community and Family Network Grants were awarded for $2500 each.
Although grants have been deferred this year, group discussed their importance. HRSA may have
changed recommendations on what can be funded – this needs to be revisited.
Genetic Workforce Study

Phase 1 consisted of survey of those caring for individuals born with genetic conditions; asked
questions about time spent for care coordination, time spent, insurance company efforts.

Phase II is a national web-based survey effort reaching out to geneticists and care teams;
received over one hundred responses.
Next Five Years
There are now 6 work groups, two of which are new.
Education & Outreach (formerly Dissemination, Education and Marketing)

Work group developed GEMSS: Genetics Education Materials for School Success
(www.gemssforschools.org). Covers 8 conditions with 3 pending; plan is to add more. Also plan
to expand content (for example, add aspects of transition).
Discussion: group suggested ideas for dissemination, including:

Early education venues (head start; early intervention through Family Voices; state early
childhood advisory councils)

Physician venues (state AAP meetings; doctors’ offices)

School nursing venues (state meetings)

Family organizations

Special education associations (per state)
Medical Home & Transition generally meet together but have separate activities as well.

Joint project: clinical report by AAP, et al, on transition published in Pediatrics contains an
algorithm on transition. Goal is to apply the algorithm to 5 conditions, starting with sickle cell.

Carol Orton: developing concept of school nurse as transition navigator
Discussion:

Hopefully work being done on transition, such as Bright Futures and AAP updating schedule of
what should happen at each visit, will convince insurance about the importance of the work.

Transition can cause apprehension for doctors and for families as well as youth. Even careful
language from doctors can be misinterpreted. Suggestion made to use the term “continuity”.

Would be helpful to think of transition more broadly, across the lifespan, from a developmental
perspective. “Problems don’t go away when you are 28 years old.”
o
Transition is different for children vs. parents. Materials developed should cue the
provider to address both aspects.
Quality Improvement

Project with general genetics clinics intends to improve satisfaction and outcomes for families
and clinicians working with children with developmental delay (up to 1/3 of new referrals).

In addition, Learning Collaborative focusing on PKU and MCAD was established with metabolic
programs in NE, and is developing agreement on issues/needs, processes, and data collection.
Also seeking to get ABMG board to recognize that this is a quality improvement activity.
Health Care Access and Financing – new this year

Seeks to address the gap in current state-based health care approaches which typically do not
incorporate a sufficient understanding of needs of individuals living with genetic conditions

Will conduct a 2 stage research study to assess family perspectives on services they have
coverage for (or not) in each of the major essential health benefit categories

Will create policy analysis & educational materials to inform decision makers and help shape
each New England state’s approach to implementing the ACA
NEGC Leadership Education in Neurodevelopmental and Related Disabilities – new this year

This activity is in line with HRSA’s aim to support workforce development through LEND
programs. Goal is to identify opportunities to collaborate around genetic issues.
In addition there are Special Projects:

Long Term Follow Up

Emergency Preparedness

Public Health Capacity: Critical Congenital Heart Disease (CCHD)
Wendy Smith, Chair, led discussion on where the committee wants to go in the future.
The NEGC has begun taking steps to include youth/young adults on the Advisory Committee.
Representatives from Next Step, discussed why it is important and how it might work.

Next Step’s Face Forward conference is driven by youth task force that plans agenda.

Next Step is now incorporating Youth Advisory Board (YAB) model into Face Forward.

o
Organization, such as NEGC, considers what they want to know from youth perspective.
o
Youth discuss, develop a response, and send two delegates to the advisory meeting.
o
Adult mentor accompanies them to explain and support.
Benefits to organization include meaningful engagement around important topics; benefits to
youth include increase in confidence, leadership & technical skills.
Discussion:

Identified resource: APRIL - Association of Programs for Rural Independent Living (grassroots
initiative for people with disabilities) http://www.april-rural.org/

Hearing directly from youth and young adults is extremely valuable.

Sometimes young people “don’t want to make a big deal of it”, but it is an issue of equality –
wanting to have the same experience as their peers. They may need an ally to help.

Action is more likely if the disease is better understood. The harder it is to see, the harder it is
to get services.
Other general discussion –what are we missing

Grants even on a smaller scale are of interest.

Membership has been expanded to include more roles, such as genetic counselor.
o
May want to consider adding insurers, big employers, politicians
o
More representation from people with genetic disorders – adult and youth
o
Encourage voices from different developmental stages. Don’t overlook intersection of
race/class/ethnicity and access to care.

Consider global challenges in health care. Emphasis is on a few costly diseases (including
diabetes and asthma) and rare conditions are “lost”. How do we get that voice known?
o
Telling personal stories is important.
o
Discussed effective fundraising and the need to change public perception
o
As a group we need to make a case that this investment reduces cost and adds quality.