Transcript Slide 1

Newborn Screening- who is
doing what and why and where
is it going?????
Sara Copeland, MD
Department of Health and Human Services
Health Resources and Services Administration
Medical Officer, Genetics Services Branch
Public Health and Genetics
HRSA
CDC
NIH
Timeline of Genetics in HRSA
• 1912- Established Nation Children’s Bureau
• 1935 -Establishment of Title V of the Social Security Act
• 1950s, Congress earmarked funds for children with developmental
delays (mental retardation) and congenital heart disease
• 1972-the Sickle Cell Anemia Control Act
• Prompted the MCH program to improve access to genetic services
• 1976- The National Sickle Cell Anemia, Cooley's Anemia, Tay-Sachs
and Genetic Disease Act of
• expansion of MCHB's genetics activities beyond sickle cell disease
programs.
• 1999- NBS Taskforce
• 2000- MCH Heritable Disorders Program authorized
• Implemented in 2004
• 2008- Newborn Screening Saves Lives Act
Genetics Services Branch-Legislation:
• Heritable Disorders Program- Public Health
Services Act- 2000 and 2008
• Congenital Conditions- Prenatally and Postnatally
Diagnosed Conditions Awareness Act- 2008
• Special Projects of Regional and National
Significance (SPRANS)- Title V- Social Security Act
– Genetic Services
– Sickle Cell Disease and Newborn Screening- earmark
– Hemophilia disease
• Sickle Cell Disease and Treatment Program- Sickle
Cell Act
Legislation
• Some specify HRSA, some do not
• NBSSLA is for everyone to benefit from and
contribute to- has been specified who
administers the funds
• Authorization to act does not mean we have
the funding to proceed (appropriations)
Legislation
• Title XXVI of the Children’s Health Care Act of 2000
(Title XI of PHS act)
- Establishes a program to improve the ability of States to
provide newborn and child screening for heritable
disorders.
- Three Sections establishing grant programs and the
Advisory Committee on Heritable Disorders in
Newborns and Children
Provisions of Public Law 110-204
Newborn Screening Saves Lives
Act of 2008
• This statute amends the Public Health Service Act to facilitate the creation of
Federal guidelines on newborn screening
– To assist State newborn screening programs in meeting federal guidelines
– To establish grant programs to provide for education and outreach on
newborn screening and follow-up care once newborn screening has been
conducted
– To reauthorize programs under Part A of Title XI of the Act
Provisions of Public Law 110-204
Newborn Screening Saves Lives
Act of 2008
• The Act reauthorizes and expands the role of the Adv. Committee on
Heritable Disorders in Newborns and Children (ACHDNC)
• Establishes an Interagency Coordinating Committee on Newborn and Child
Screening
• Creates an internet-based information clearinghouse to provide information
about newborn and child screening for heritable disorders
Provisions of Public Law 110-204
Newborn Screening Saves Lives
Act of 2008
• Bill requires the Secretary of HHS
– To ensure the quality of laboratories involved in NBS activities
– To develop a national contingency plan for newborn screening
• Bill gives NIH the authority to carry out research in newborn screening, including
identifying new screening technologies and researching diseases management
strategies for the conditions that can be detected through screening (NIH
program to be known as the Hunter Kelly Newborn Screening Research Program)
Section 1111 (SACHDNC)
• Make systematic evidence-based and peer-reviewed
recommendations that include the heritable disorders that
have the potential to significantly impact public health for
which all newborns should be screened, including secondary
conditions that may be identified as a result of the laboratory
methods used for screening
• Develop a model decision-matrix for newborn screening
expansion, including an evaluation of the potential public
health impact of such expansion and periodically update the
recommended uniform screening panel, as appropriate, based
on such decision-matrix
Funded Programs- Heritable Disorders
Program
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Regional Collaboratives
Effective Follow-up
Newborn Screening Clearinghouse
SACHDNC
Funded Programs- SPRANS
• Genetics
– Genetics Education
– National Coordinating Center for Regional
Collaboratives
– Family History Project
– Prenatal Family History
– Cooley’s Anemia/Thalassemia projects
– National Newborn Screening and Genetics Resource
Center (NNSGRC)
Funded Programs- SPRANS
• Hemophilia
– Treatment and Comprehensive Care Centers
• Sickle Cell and NBS
– Follow-up and community involvement projects
Funded Programs- SCDTP
• Sickle cell disease and treatment programs
– 9 networks
– Comprehensive care for people living with SCD,
evidence based treatment in a multi-disciplinary
setting- including CBO
– 1 coordinating center
Funded Programs- Congenital
Conditions
• Evidence based information and services to
parents receiving a positive diagnosis for a
prenatally or postnatally diagnosed condition
(i.e. dwarfism, spina bifida, down syndrome,
trisomy)
Programs with overlap between
agencies
• Hemoglobinopathies
• Hemophilia
• Heritable Disorders Programs
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Long term follow-up
NBS Clearinghouse
NBS Quality Measures
Evaluation of NBS effect
• Health Information Exchange
– HRSA/NLM Guidance for Sending Newborn Screening Results
Using HL7 Messages and Universal LOINC Codes
• http://newbornscreeningcodes.nlm.nih.gov/nb/sc/constr
uctingNBSHL7messages
Long-term Follow-up
• NIH
-NBSTRN
-Development of
a data system
-Data elements
from clinical
experts in the
field
-Main body of
information will
come from
clinical followup
-NBS most
important as will
be the entry
point for most
• CDC
-Registry with
abstracting
-CDC Grantees
California
New York
Utah
Iowa
-Collecting data
based on diagnosisusing common
elements to NBSTRN
elements
-Have already started
collecting
information
• HRSA
-Priority 2 projects
-NEGC
collecting follow-up
data via the NBS
program
-Minnesota/Region 4
Collecting data- using
doc site, have license
and are entering data
Data points used are
common to both CDC
and NBSTRN
Predicting the future of LTFU….
• Eventually based on the data points
assembled, will have one network of data
collection
• Likely will not be ONE program, but hopefully
linked systems that communicate (why
MEANINGFUL USE is so important as is
messaging systems)
• Not sure who will fund it, but unlikely to have
competing systems- one system of collection,
but different uses of the data.
Hemoglobinopathies
• RuSH- CDC and NIH
– At this point, seems to
be basic surveillance
– Number affected and
basic outcome data
• SCDTP and Thal and
NBS- HRSA
– Development of best
practices
– Development of
networks
– Linkage between PCPs,
CBOs and academic
center
– Entering data on
outcomes
Hemophilia
• CDC- has common data
set that collecting
• HRSA funds treatment
centers
Will be joining programs to develop
networks and decrease the duplication
of effort, get better data collection and
development of best practices
Programs with overlap within
HRSA
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Effective Follow-up
NNSGRC
Newborn screening clearinghouse
Early and continuous screening through the
medical home
Effective Follow-up
-Focuses on HIE
-Means to develop
information exchange
-Proof of concept, that
data transfer can work
from the public health
departments to labs or
PCPs etc.
-Not a long-term followup system
-Likely will not be
ongoing, more of
developmental project
Early and continuous
screening
-Not necessarily based
on NBS screening
-Means to improve
overall screening for
developmental
problems in medical
home setting
NNSGRC
-Will be changing since
introduction of
Clearinghouse
-Focus will be
development of a state
program resource
center
-Will be working to
develop new systems
for quality assessment
of programs, expand
the program visits,
revise the PEAS and
work with CDC for a full
NBS system quality
enhancement program
-Currently houses the
NNSIS- will be moved
to own program in 2012
Newborn screening
Clearinghous
-Existence is legislated
-Focus will be
development of a
provider and consumer
resources
-For next couple of
years will be working
with HRSA to gather
information about what
new NNSIS will look
like- but will not
HOUSE the NNSIS
-No newborn
screening patient
information will be
linked to this site
NNSIS- National Newborn
Screening Information System
• Is currently housed in the NNSGRC
• Is voluntary and will remain so- reporting about state
incidence etc.
• We need to update and upgrade this system
– Upgraded system will be developed- implemented in FY 2012
– Will be separate from other systems, not housed in any other
program
• Will have several tiers of access
– State access
– Federal CQE access (voluntary)
– Public face- only aggregate data to meet the legislative needswant to be able to provide some quality measurements
Upcoming Programs
• ICC- Interagency Collaborative Committee on NBS
– Legislated in NBSSLA
– Will include all major HHS entities
• Federal agencies will make up the membership
– Will provide guidance for Secretary of HHS
– Will work with SACHDNC
– Will be shared delegation by CDC and HRSA
• NBS CQE Program
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Voluntary program to enhance quality of NBS SYSTEMS
Collaboration with CDC NSQAP and PT programs
Will include pre and post analytical systems
Outgrowth of NNSGRC program evaluation
Needs to be shaped by state needs
Hope to be able to get certification that impacts CHIPRA and Medicaid
reimbursement
Contact Information
Sara Copeland, MD
Genetics Services Branch, Medical Officer
301-443-8860
[email protected]