PROJECT ABSTRACT
Project Title:
Enhanced Genetic Services and Newborn Screening Collaborative
in Region 3
Applicant
Name:
Southeastern Regional Genetics Group, Inc.
Project
Period:
October 1, 2004 –
September 30, 2007
Problem:
Region 3
has outstanding but limited genetics expertise and resources, resulting in a
maldistribution of genetics and Newborn Screening (NBS) services within and
between states. Funding inequities exist and the region contains a high
percentage of Health Profession Shortage Areas (HPSAs). Improved linkages
among health professionals and public health programs are needed, as well as
improved access to medical homes.
Goals and
Objectives:
The
overall goal of this proposal is to utilize the unique established regional
genetics infrastructure provided by the Southeastern Regional Genetics
Group, Inc. (SERGG, Inc.) for developing a regional approach to address the
maldistribution of genetic resources and promote the rapid translation of
genomic medicine into public health and health care services. This proposal
is submitted as part of the Regional Genetics and Newborn Screening
Collaboratives coordinated by the Genetics Services Branch of MCHB/HRSA. The
activities proposed in this application are based in part on the
recommendations of the Newborn Screening Task Force and of the Agenda for
Healthy People 2010. We have strong support from both academic and public
health representatives from throughout the region, promising a robust and
effective collaborative effort on this project. We propose to enhance,
improve, and expand the genetics and newborn screening services in Region 3
by the following specific goals. Region 3 is
composed of Alabama,
Florida, Georgia, Louisiana, Mississippi, North Carolina, Puerto Rico, South
Carolina, Tennessee, and Virgin Islands.
Goal 1:
Identify existing gaps in genetics services in Region 3 affecting health and
development of adults with heritable disorders.
Objective
1:
Conduct regional needs assessments with participating state partners
organized by the newborn screening program guidelines a) screening, b)
follow-up, c) diagnosis, d) management, e) program evaluation, f)
informatics.
Objective
2:
Conduct regional needs assessment using focus groups and develop appropriate
survey instruments to be completed by genetic specialists, public health
professionals, other health care providers, and consumers.
Goal 2:
Expand existing regional capabilities and resources, and develop new
regional systems to address gaps identified in genetic services and
maldistribution of genetic resources.
Objective
1:
Develop
and implement a pilot project in Year 1 modeling strategies to reduce
maldistribution of genetic resources at a regional level, with measurable
outcomes and portability to other areas.
Objective
2:
Award
competitive regional small project grants in Years 2 and 3 to projects
addressing an identified need or gap in genetic services; and providing
deliverable and measurable outcomes; and portability to other areas.
Goal 3:
Improve regional communication infrastructure to facilitate information
sharing among providers of genetic services, other health care
professionals, and consumers; and establish collaborative partnerships with
other professional organizations.
Objective
1:
Develop and implement a regional website expanding access to genetic
information, services, and resources for health professionals and patient
family populations in Year 1, and maintain through subsequent years.
Objective
2:
Develop and implement a regional telecommunication infrastructure linking
genetic specialty centers; and providing a forum for project planning,
sharing of expertise, and a mechanism for improving linkage to other primary
and tertiary healthcare providers in Year 1, and maintain through subsequent
years.
Activities:
The SERGG,
Inc. Grant Steering Committee (GSC) will launch the following activities
through various collaborative efforts with participating state partners to
share their expertise and resources within the entire region: a systematic
needs assessment based on Newborn Screening system components, data
collection and evaluation of regional needs assessments, continuing
education for metabolic dieticians, small grant awards to address identified
regional gaps in genetics services, website development to strengthen
regional linkages, and development of a regional telecommunication network.
Healthy
People 2010 Objectives:
This
project will address the main outcomes of the Agenda for Healthy People
2010. We will develop methods for substantial consumer input during our
initial needs assessment activities and focus groups, to ensure that
families are engaged and empowered as satisfied decision-making partners in
advocating for and receiving health and related services for a child who has
or is at risk for chronic physical, developmental, behavioral or emotional
conditions. Healthy People 2010 Objective 16.23 is specifically applicable
to the stated purpose of this proposal: “To increase the proportion of
territories and states that have service systems for children with special
health care needs to 100%”. All program goals and their objectives will
ultimately increase access to genetic services for children with special
health care needs, either through direct involvement of families, or through
enhancement of professional ability to provide services.
Coordination:
Communication by
conference call and e-mail exchanges among Region 3 professionals, including
both public health and genetic specialists, over the past three months has
resulted in a consensus to submit one collaborative proposal. Eight
southeastern states and two territories will partner to conduct regional
needs assessments through SERGG, Inc. and develop interventions utilizing
shared expertise. Linkages via telecommunication conferences and regional
meetings will strengthen partnerships, and involve rotating leadership
roles. Partners within each state will include public health agencies and
academic institutions providing genetic services. Opportunities to
implement innovative projects within the region through small grant awards
will enhance collaboration with individuals or agencies in the region.
Integration within SERGG, Inc. will also enable collaboration with consumer
representatives.
Evaluation:
Process
evaluation measures will be built into each goal and objective of the
project. The Grant Steering Committee will have primary responsibility for:
developing and maintaining a database to prioritize regional needs,
evaluating and funding pilot and small grants for appropriate outcome
measures, and ensuring efficacy of telecommunication linkages for sharing
expertise.
Annotation:
The
purpose of this project is to establish partnerships in Region 3 to assess
maldistribution of genetic services in the region, and develop effective
interventions through shared resources and expertise. Innovative approaches
to resolving gaps in genetic services will be encouraged through competitive
small grants awarded to regional partners. A Region 3 genetics
telecommunication infrastructure, including a website and teleconferencing
ability, will be established to enhance communication among collaborators,
and improve access to information for health care professionals and
consumers. This regional collaborative framework will be based within the
SERGG, Inc. organization, which offers an established collegial
infrastructure appropriate to support such an effort, as well as the
potential for continuation of benefit to the public health beyond the life
of the project.
