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

2. Public Health and Genetics
HRSA
NIH
CDC

3. 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

4. Genetics Services Branch-Legislation:
Heritable Disorders Program- Public Health Services Act 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

5. 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)

6. 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

7. 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

8. 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

9. 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)

10. 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
Amongst other specific function, the new legislation requires that the AC:
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;

11. Funded Programs- Heritable Disorders Program
Regional Collaboratives
Effective Follow-up
Newborn Screening Clearinghouse
SACHDNC

12. 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)

13. Funded Programs- SPRANS
Hemophilia
Treatment and Comprehensive Care Centers
Sickle Cell and NBS
Follow-up and community involvement projects

14. 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

15. 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)

16. Programs with overlap between agencies
Hemoglobinopathies
Hemophilia
Heritable Disorders Programs
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

17. Long-term Follow-up NIH CDC HRSA NBSTRN Registry with abstracting
Development of a data system
Data elements from clinical experts in the field
Main body of information will come from clinical follow-up
NBS most important as will be the entry point for most
Registry with abstracting
-CDC Grantees
California
New York
Utah
Iowa
Collecting data based on diagnosis- using common elements to NBSTRN elements
Have already started collecting information
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

18. 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.

19. Hemoglobinopathies RuSH- CDC and NIH SCDTP and Thal and NBS- HRSA
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

20. 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

21. Programs with overlap within HRSA
Effective Follow-up
NNSGRC
Newborn screening clearinghouse
Early and continuous screening through the medical home

22. 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 follow-up 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

23. 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 needs- want to be able to provide some quality measurements

24. 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
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

25. Genetics Services Branch, Medical Officer
Contact Information
Sara Copeland, MD
Genetics Services Branch, Medical Officer