Newborn Screening for Military Dependents

1. Newborn Screening for Military Dependents Mary J H Willis Clinical Genetics Department of Defense Representative SACHDNC September 2011

2. Overview • History of Newborn Screening in the Military Health Care System • Newly established contract with PerkinElmer Genetics • Future Directions

3. Military Babies • 120,000 babies born to military families each year, ~1/2 at Military Treatment Facilities, (MTFs). • Local MTFs bound by federal law and so are not obliged to use state lab systems or report positives to state public health departments. Many MTFs however choose to comply with state law. • Military beneficiaries and their physicians are a mobile population, spread world wide.

4. Military Treatment Facilities, (MTF) • 93 world wide, 52 doing deliveries, additional 21 doing newborn care and may sending newborn screening • Located in 31 states, 10 foreign countries • Cuba, England, Germany, Guam, Italy, Japan, Korea, Portugal, Spain, Turkey • Births; • CONUS/HI/AK 62,000 • OCONUS 6500 • Largest Volume Portsmouth; 290 babies/month • Smallest Guantanamo Bay; 13 babies/year

5. Background Dec 02, Official Army policy published requiring MTFs to screen for a minimum of 4 tests and to have written policies and procedures in place. Sept 04, ACHDNC approved the report from the American College of Medical Genetics for universal screening for a minimum of 29 disorders with a consideration for 25 additional disorders Nov 04, Universal screening endorsed by the American Academy of Pediatrics and March of Dimes,. Tricare manual; “Well child care include routine newborn care, …, periodic health screening … in accordance with the American Academy of Pediatrics (AAP) guidelines. Concern for unequal benefits and missing significant numbers of infants with treatable disorders 5

6. Background Sept 04, Navy Perinatal Advisory Board recommended adoption of expanded screening and asked Navy lab community to evaluate options. Nov 04, Navy lab and pathology consultants agreed to establish joint central testing contract for NBS. Expanded screening promoted and deployed widely across Navy MTF’s in 2005-2006. Nov 04, Tricare Management Activity, (TMA) initiated Independent Government Cost Estimate (IGCE) to study option for contracted centralized comprehensive DoD NBS for 53 tests. Dec 04, TMA proposal for centralized funding informally endorsed. 6

7. Background 2005 Integrated Process Team (IPT) to facilitate Military Health Service wide implementation. DoD Health Administration Policy recommendation; Education Plan Newborn registry Centralized contract availability 7

8. Education Plan • IPT Developed: (2006-2008) • Curriculum targeted at provider groups who are involved with newborn care. • Educational tools designed for ancillary audience and parents. • DoD/VA Clinical Practice Guideline Webpage https://www.qmo.amedd.army.mil/Newborn/index.htm

9. Newborn Registry • The ability to integrate NBS information into the registry dependent on the contractor. Placed on hold until contract established • Plans now moving forward to establish a registry, similar to the tracking of mammograms and colonoscopies

10. Solicitation Contract with single civilian lab that uses tandem mass spectrometry or MS/MS screening (53 tests). There should be daily, secure worldwide electronic reporting of results to MTF’s with electronic guidelines for abnormal results. Should be HIPPA compliant and portable between MTF’s. Consultative services should be available at least 5 days a week. Should include screening materials, testing supplies, and overnight specimen delivery (probably including cost of mailing). Should include immediate notification of physician of abnormal results. Should link with DoD-wide birth registry for metabolic data. 10

11. Centralized Contract Presolicitation Notice placed (back) on FedBizOPPS announcing centralized laboratory contract in March 09. Newborn Screening Services Solicitation (SPM2D1-07-R-0002) on the Defense Logistics Agency Internet Bid Board System 8 May 09. Contract Awarded to PerkinElmer Genetics (PEG) 31Jan 2011 Contract in effect 2 May 2011 Action Memo signed by Assistant Secretary of Defense for Health Affairs 1 Jul 2011 11

12. Action Memo • Signed by Jonathan Woodson, M.D., Assistant Secretary of Defense, Health Affairs • Background information, Disorders screened, Contract modification for new disorders recommended by AAP • “…request that each service evaluated its current newborn screening arrangements to determine the clinical and economical impacts…”

13. NBS Contract Overview • Anticipated Five-Year Contract covering CONUS/AK/HI and OCONUS • Contract Pricing • CONUS/AK/HI Customers • $33.64 Includes all shipping costs • OCONUS Customers • $32.09 Does not include the cost of shipping collected specimens to PerkinElmer’s laboratory • Receipt of Specimens and Order Acknowledgement • 24 hours / one business day following the latter of specimen or order receipt • Unsatisfactory Specimens must be reported within 24 hours

14. NBS Contract Overview (cont.) • Result Reporting • 72 hours / 3 business days following the latter of specimen or order receipt • Must be posted to HIPAA-compliant website; MTFs given option hard-copy report • Reports must explicitly document which disorders were screened for and indicate normal or abnormal results • Rescreening Requirements • Re-screening and repeat/confirmatory testing costs are not separately priced

15. NBS Contract Overview (cont.) • Reports for all abnormal results include • quantitative results (and interpretive guidance) for abnormal metabolites • detailed interpretations of the results (including an overview of the results’ significance, possible differential diagnoses, recommendations for additional biochemical testing and confirmatory studies), • and name and phone number of a laboratory representative available if the newborn’s physician or pediatric specialist has additional questions • All results reported to State Government Newborn Screening Programs and NNSGRC, if applicable

16. NBS Contract Overview (cont.) • Consultative Services • PEG provides the availability of its Genetic Counseling Staff twenty-four (24) hours a day, seven (7) days a week • Consultative services include, but are not limited to: • interpretation of screening test results • recommendations for further evaluation • recommendation for initial management • educational support • patient referral management support

17. NBS Contract Overview (cont.) • Training/Education Requirements • Prior to any ordering by an MTF (and throughout the life of this contract) PEG provides MTF staff with training, education and technical assistance regarding • proper sample collection process • sample shipment preparation and packaging • logistical coordination for sample processing • physician education • May be provided at any time in order to • Improve the quality of specimen submission • Decrease sample collection and patient identification errors • Reduce the need for newborn re-screens

18. Previous PEG Users

19. MTFs Utilizing New Contract

20. Interaction with State Programs • Differences between state law and testing performed by PEG • Each MTF must decide if and how to comply • Second screen (MD/Bethesda NH, TX/Brooke AMC) • Additional disorders (NY;SCID, Krabbe/Keller ACH) • Reporting Public health data to states is part of the contract. • State programs should not be asked to follow up positive screens performed by PEG • Babies may be referred to state follow up clinics for further care through Tricare purchased care network

21. Care for Babies with Positive Screen • Each MTF must establish referral pattern. • Depends on the location of the MTF and the type of disorder • Utilized referral patterns already in place • OCONUS; transfer as appropriate. • CF, Hematologic, Endocrine • Military and Civilian • Metabolic • Primarily same physicians utilized by state programs

22. Additions to the Panel • Contract may be re-negotiated as disorders are added to the panel. • SCID • Tricare Manuel Chapter 7 Medicine • Section 2.5 Well Child Care • “Well child care include routine newborn care, health supervision examinations, routine immunizations, periodic health screening and developmental assessments in accordance with the American Academy of Pediatrics (AAP) guidelines.”

23. Questions