Transcript Slide 1

Genetic Services Branch
NEGC Annual Meeting
April 10, 2014
Joan A. Scott, M.S., C.G.C.
Department of Health and Human Services
Health Resources and Services Administration
Maternal and Child Health Bureau
Division of Services for Children with Special Healthcare Needs
Chief, Genetics Services Branch
Translating Genomics to Health
Roadmap of Federal Agencies Along the Translational Pathway
T1: from
concept to
human studies
T2: from
studies to
guidelines
Clinical
Trials
(Patients)
Basic
Research
T3: from
guidelines to
widespread
practice
Clinical
Practice
Guideline
T4: from
practice into
true benefit
Clinical
Practice
Healthcare
Outcomes
NIH
CDC
DOD/VA
DOD/VA
FDA/CMS
HRSA
AHRQ
Ginsberg GM V 05.28.13
PCORI
Health Resources and Services Administration
(HRSA)
• America’s healthcare safety net - HRSA is the primary Federal
agency for improving access to health care services for people
who are uninsured, isolated, or medically vulnerable.
Maternal and Child Health Bureau (MCHB)
• Provides leadership to improve the physical and mental
health, safety and well-being of the maternal and child health
population which includes all of the nation’s women, infants,
children, adolescents, and their families, including fathers and
children with special health care needs.
ISB
GSB
Genetic Services Branch
Vision
Genetic science is intrinsic to the understanding of health
and well-being throughout the life course of an individual.
Mission
Provide national leadership to improve, expand, strengthen,
and evaluate access to a system of genetic services and the
quality of those services for children, youth, and adults across
their life course.
Legislative Authority
• Title V of the Social Security Act, Section 502(a):
Authorizing funds for Special Projects of Regional
and National Significance (SPRANS) for
⁻ genetic disease testing, counseling, and information
development and dissemination programs
⁻ comprehensive hemophilia diagnostic treatment
centers without regard to age
⁻ the screening of newborns for sickle cell anemia, and
other genetic disorders and follow-up services.
Legislative Authority
• Title XXVI of Children’s Health Act of 2000 “Screening for
Heritable Disorders” enacted three sections of Public Health
Service Act
– Grant programs to improve ability of States to provide newborn screening
and to evaluate effectiveness of screening, counseling or health care
services
– Established Secretary’s Advisory Committee on Heritable Disorders in
Newborns and Children (SACHDNC)
• Amended by Newborn Screening Saves Lives Act of 2008,
2014
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Clearinghouse of newborn screening
Program on laboratory quality
Interagency Coordinating Committee
National contingency plan for newborn screening
The Hunter Kelly newborn screening research program
Legislative Authority
Sickle Cell Disease Treatment Demonstration
Program
• Section 712(c) of the American Jobs Creation Act
of 2004, Public Law 108-357
• Build a model of service deliver to improve sickle
cell care though;
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Coordination of services
Genetic counseling and testing
Bundling of technical services
Training of health professional
HRSA’s National Inherited Blood Disorders
Programs: Comprehensive Chronic Care Models
• Sickle Cell Treatment Demonstration
Program
• SPRANS
– Sickle Cell Newborn Screening Program
New
– Thalassemia Program
– The National Hemophilia Program
New
SCDTDP Regions
•
North Atlantic •
•
Northeast
•
Heartland
•
Southeast
•
Southwest
•
Midwest
•
pacific
Prairie
Sickle Cell Treatment Demonstration Program
• Goals
1. increase the number of providers treating sickle
cell patients in the region;
2. increase the number of providers prescribing
disease-modifying therapies, such as
hydroxyurea; and
3. increase the number of sickle cell patient that
are receiving care from providers with greater
knowledge of how to treat sickle cell disease.
New
Sickle Cell Newborn Screening Program
• Goal
1. Create a national effort to develop, implement, and
maintain a strategy to identify and assess the care
quality and outcomes of individuals with sickle cell
disease;
2. Increase the use of sickle cell educator/counselors
(e.g., community health workers); and
3. Increase the number of patients with care
coordination, follow-up and referral to medical homes
for sickle cell patients.
• Expected to work with SCDTDP
Thalassemia Program
New
• Goal
1. Create a national effort to identify and assess the
needs of individuals with thalassemia;
2. Propose a model protocol for improving the
delivery of thalassemia care;
3. Implement strategies for increasing access to
specialty providers; and
4. Implement strategies for ensuring that thalassemia
patients have access to primary care providers
who can address non-disease specific issues.
Legislative Authority
• Newborn Screening Saves Lives Act of 2008,
reauthorized in 2014
– Programs to support States
– Advisory Committee
– Clearinghouse of newborn screening and quality
improvement
– Program on laboratory quality
– Interagency Coordinating Committee
– National contingency plan for newborn screening
– The Hunter Kelly newborn screening research program
NBSSLA of 2014: New Activities
• Programs to support States achieve timeliness
• Advisory Committee
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Provide TA for those nominating conditions
Make recommendations regarding timeliness
Vote on conditions within 9 months
Secretary has 120 days to adopt or reject
• Reports
– GAO report on timeliness in 2 years
– Secretary report in one year, then every two years
• Research amendment
– Research on NBS blood spots human subjects research
– Secretary 6 months for draft changes to Common Rule, final
in 2 yrs.
NBSSLA of 2014: New Activities
• Research amendment
– Research on NBS blood spots human subjects research
– Secretary 6 months for draft changes to Common Rule, final
in 2 yrs.
• March 9 meeting at NIH
• March 24 SACHRP meeting voted on
recommendations to OHRP
http://www.hhs.gov/ohrp/sachrp/
• May 11-12 DACHDNC meeting
• Stay tuned for informational webinars for State
programs
Recommendations for timely NBS
A. To achieve the goals of timely diagnosis and treatment of screened
conditions and to avoid associated disability, morbidity and mortality, the
following time frames should be achieved by NBS programs:
1. Presumptive positive results for time-critical conditions should be
communicated immediately to the newborn’s healthcare provider but
no later than five days of life.
2. Presumptive positive results for all other conditions should be
communicated to the newborn’s healthcare provider as soon as
possible but no later than seven days of life.
3. All NBS tests should be completed within seven days of life.
B. In order to achieve the above goals:
1. Initial NBS specimens should be collected in the appropriate time
frame for the newborn’s condition but no later than 48 hours after
birth, and
2. NBS specimens should be received at the laboratory as soon as
possible; ideally within 24 hours of collection.
Additions to the Recommendations
• The Committee encourages States to track their progress in
achieving each recommendation and support strategies
that show progress in a transparent way.
• In order to support States with limited budgets, the
Committee also encourages the Secretary to develop a
grant program to further assist States in meeting the
Committee’s recommendations.
• States are encouraged to have 95% or more of newborns
meeting the timeliness goals by 2017 and to communicate
their progress to a national data resource to be determined
by DHHS.
Heritable Disorders Program: GSB Newborn
Screening Activities
• Staff the Discretionary Advisory Committee on
Heritable Disorders in Newborns and Children
(DACHDNC)
• Establish grants
– Support state newborn screening programs
– Increase awareness and provide education for broad range
of stakeholders
– Increase access to and coordinate services
Grant Programs to Support State NBS
• Critical Congenital Heart Disease (CCHD)
Demonstration Program
• Long-term Follow-up Program: Demonstrate a
plan for assessing the feasibility of
establishing LTFU in a primary care setting
• Severe Combined Immunodeficiency (SCID)
Newborn Screening Implementation Program
Grant Programs to Support State NBS
• Timeliness of newborn screening
New
– ASTHO working State Health Officers
– APHL CoIIN on timely NBS with 8 states
• HRSA-15-098 Improving Timeliness of Newborn
New
Screening Diagnosis
– Facilitate strategies and coordinate QI projects to improve
timeliness of newborn screening, diagnosis, and treatment
in at least 20 state newborn screening programs.
– $1.8 M
– 1 Cooperative agreement
– Project period 9/1/2015 – 8/31/2018
Grant Programs
Grant Programs to Support State NBS
• Clearinghouse of Newborn Screening
Information – Awarded Genetic Alliance
Aim: Increase awareness of newborn screening
• Newborn Screening Data Repository &
Technical Assistance Center – Awarded APHL
Aim: Measure performance of newborn
screening
NewSTEPs
 NewSTEPs is the Newborn Screening
Technical assistance and Evaluation
Program
 NewSTEPs is partnering with newborn
screening programs throughout the U.S. to:
Provide technical assistance and resources
Collate and summarize data in aggregate form
Develop opportunities for quality improvement,
locally, regionally, and nationally
National Data Repository
for Newborn Screening
Purpose: Provide tools to state newborn screening
systems to adequately evaluate, analyze, and benchmark
the performance of their tests and the quality of their
newborn screening programs
NewSTEPs Data Repository
• MOUs - 46% of NBS programs have fully ratified
MOUs (or are close to ratifying) –
• Categories within repository
– State Profiles (disorders screened, policies,
etc)
– Quality Indicators (MOU required)
– Case Level Data (MOU required)
Quality Indicator Data
• 8 Quality indicators developed vetted by
the NBS community
• Track state progress over time
• Upload tools available (many LIMS
vendors developing export queries for
available data)
Purpose of the Newborn level
data collected within NewSTEPs
“To provide an accurate characterization
of the frequency of newborn screening
disorders in the U.S., along with timing of
screening and diagnostic activities”
Systematic definitions helpful at local
AND national levels
Site Visit Reviews
• Part of the on-going technical assistance
provided by NewSTEPs – at no cost to state
• Not regulatory
• At the invitation of the state, a site visit is
scheduled and experts chosen depending on
program needs
• Reviews all aspects of the newborn screening
system—lab, follow up, expert care for infants
diagnosed
• Two states visited to date: both made
improvements in NBS program activities as
result
Legislative Authority
• Title V of the Social Security Act, Section 502(a):
Authorizing funds for Special Projects of Regional
and National Significance (SPRANS) for
⁻ genetic disease testing, counseling, and information
development and dissemination programs
⁻ comprehensive hemophilia diagnostic treatment
centers without regard to age
⁻ the screening of newborns for sickle cell anemia, and
other genetic disorders and follow-up services.
Regional Genetics Service Collaboratives (RCs)
Provide a regional infrastructure of public health genetics to
improve, expand, and evaluate access to a system of genetic
services and the quality of those services to improve health
outcomes for children, youth and adults across their lifespan.
National Coordinating Center - ACMG
1.
2.
3.
4.
5.
NEGC: New England Genetics Collaborative
NYMAC: New York-Mid-Atlantic Consortium
SERC: Southeast Regional Collaborative
Region 4: Region 4 Genetics Collaborative
Heartland: Heartland Regional Genetics and
Newborn Screening Collaborative
6. MSGRCC: Mountain States Genetics
Regional Collaborative
7. WSGSC: Western States Genetic Services
Collaborative
National Genetics Education and Consumer
Network (NGECN)
• Led by Genetic Alliance
• Goal: Build a network of partnerships and tools
that improve consumers’ education about and
access to genetic services, as well as improve
the quality of those services
• Focus on consumer engagement in the RCs,
supporting consumer-focused initiatives and
groups, and public education
How do we evaluate what we’re doing?
• What are we doing?
• How well are we doing it?
• Is anyone better off because of it?
Going Forward
• What are the gaps that a public health
approach can address?
• What are the failures in the market that
HRSA can help address?
• Who needs genetic services that aren’t
getting it?
Contact Information
Joan A. Scott, M.S., C.G.C
Chief, Genetics Services Branch
301-443-8860
[email protected]