PROJECT
ABSTRACT
Project Name:
The
Region 4 Genetics Collaborative: A regional approach to improve the health
of children and families with heritable disorders in Illinois, Indiana,
Kentucky, Michigan, Minnesota, Ohio and Wisconsin
Applicant Name:
Michigan Public Health Institute
Project Period:
October 1, 2004 – September 30, 2007
Problem: The
provision of optimal services to children with heritable disorders requires
experts in new technologies and best practice models to share information
with each other. Currently no forum exists within the region for states to
share and thereby maximize the use of available newborn screening and
genetic resources.
Goals and Objectives:
Goal 1: Implement universal screening and confirmatory testing of
newborns for inborn error of amino acid, organic acid and fatty acid
metabolism.
Objectives:
(a) Achieve
uniformity of testing panel by MS/MS to maximize detection of affected
newborns within the region by 2007; (b) improve overall analytical
performance by 2005; (c) set and sustain lowest achievable rates of false
positive results by 2007; (d) improve and standardize confirmatory testing
and short-term follow-up by 2007.
Goal 2: Reduce
inequities in access to clinical genetic services.
Objectives:
(a) Improve
geographic access to ‘supersubspecialists’ through exchange clinics by 2005;
(b) improve geographic access through formalizing long distance consultation
by 2005; (c) improve geographic access through telemedicine approaches by
2007; (d) decrease problems related to access by age through exploration of
issues of transitions to adulthood by 2006; (e) increase dissemination of
expert knowledge through regional visiting professorships by 2007; (f)
increase dissemination of expertise through sharing of patient-oriented
resources by 2006.
Goal 3: Utilize
a regional approach to improve public health infrastructure for supporting
optimal diagnosis, follow up and management of children with heritable
disorders and birth defects.
Objectives:
(a) Establish by 2005 a regional collaborative forum to identify and address
common concerns and issues related to genetic and newborn screening service
systems administered by state agencies; (b) conduct by 2005 a systematic
assessment of the needs and gaps as well as strengths of state genetic and
newborn screening service systems within the region; (c) develop a regional
coordinating plan by 2005 that will articulate ways for states to share
expertise, best practice models and existing materials identified for each
of the focus areas; (d) implement the plan to share expertise and practice
models and facilitate technical assistance among states by 2007.
Methodology: The
project will focus on sharing expertise that exists within the genetic
service systems within the region (lab, clinical and public health) in order
to create a better distribution of expertise throughout the region. This
will take place through face-to-face meetings, videoconferences, training
for laboratory personnel, supersubspecialty consultations and the sharing of
resources through the Internet and will specifically address newborn
screening using MS/MS; access to expertise related to specific genetic
disorders; and public health strategies related to professional and public
education, newborn screening systems, long term NBS follow up and outcomes,
child health data systems, access to services for underserved populations
and implementation of medical homes. A working group to address
community-based collaborations and family support issues will be established
and the project advisory board will include 3 family members in order to
ensure family input on all aspects of the project.
Healthy People 2010 objectives:
16-20.
Ensure appropriate newborn blood spot screening, follow-up testing and
referral to services.
16-22.
Increase the proportion of children with special health care needs who have
access to a medical home.
Coordination:
The Region 4 Genetics Collaborative includes key partners from each of the 7
state health agencies in Illinois, Indiana, Kentucky, Michigan, Minnesota,
Ohio and Wisconsin; as well as Mayo Clinic; University of Wisconsin;
University of Michigan; and family members. Collaborative working groups
also include representatives of hospitals, public health agencies,
universities, clinicians and family members from across the region.
Evaluation: The
evaluation will track and assess progress toward achieving the
Collaborative’s objectives and desired results; systematically identify
opportunities for improving the Collaborative’s design and operations; and
ensure that these opportunities are acted on and are succeeding in reducing
barriers and maximizing program effectiveness.
Annotation:
The Region 4 Genetics Collaborative will provide
opportunities for public health professionals and health providers across
the region to share expertise and best practice models. This will result in
improved geographic distribution of genetics expertise throughout the region
and will decrease the practice of “reinventing the wheel.” Activities
include training and educational opportunities for regional lab personnel in
order to achieve a uniform testing panel and improve overall analytical
performance of MS/MS testing; development of a network to exchange clinical
expertise that will reduce inequities to genetic services; and creation and
implementation of a regional plan to address public health infrastructure
issues.
