NBSTRN Update NCC/RC PI/PD Meeting November 19, 2010 Michael Watson

Workgroup Update Laboratory Workgroup (Stan Berberich, PhD – chair)  Mission of this workgroup: The mission of the NBSTRN Laboratories Workgroup is to facilitate quality research that improves health outcomes while ensuring continuity of newborn screening services and public trust. In collaboration with appropriate stakeholders we will: Consider and address potential challenges to NBS research Consider and address potential challenges to NBS research Enable researchers to partner with state NBS programs Improve access to and facilitate responsible release of newborn dried blood spot specimens Establish a virtual repository of DBS potentially available for research Newborn Screening Translational Research Network2

NBSTRN Dried Blood Spot Virtual Repository 3

State Participation  Current Discussions  California  Iowa  New York  On Hold  Indiana  Minnesota  Michigan  Next to Contact  Florida  Texas 4Newborn Screening Translational Research Network

Labs Issues   State exposure for making specimens available for research   Can rare disease patient’s identifiability be protected and how?   Security of data in repository?   How are qualifications of investigators to be assessed for accessing web site resources?

Workgroup Update Clinical Centers Workgro up (Susan Berry, MD – chair)  The Clinical Centers Workgroup met jointly with the NCC LTFU Workgroup on October 14-15, 2010 in Bethesda, MD. Discussions at this meeting included:  Completing datasets that reflect diagnosis, management and evaluation protocols for:  metabolic diseases  hemoglobinopathies group working closely with CDC, NHLBI, and NICHD  endocrinopathy work group is planning a meeting to finish their datasets Newborn Screening Translational Research Network6

Workgroup Updates  LSD Pilot Projects  Developing the state LSD screening into a pilot project of the NBSTRN Establishing provider networksEstablishing provider networks Developing diagnostic and long term follow-up criteriaDeveloping diagnostic and long term follow-up criteria Disease specific elements identified for Pompe, Fabry, Niemann Pick, Gaucher, and Krabbe diseasesDisease specific elements identified for Pompe, Fabry, Niemann Pick, Gaucher, and Krabbe diseases Discussions around linking to existing registriesDiscussions around linking to existing registries  SCID NBS Pilot Project  Subcontract to New York State to fund costs of the laboratory screening to increase numbers in pilots  NBSTRN supporting administration of meetings, follow-up datasets, provider network development, ACT Sheet development  Data entry into the R4S database  Adapting IT/Informatics tools to pilots  Biospecimens Newborn Screening Translational Research Network7

Clinical Centers - Issues   NICHD NBSTRN grantees   New technology contracts awarded   New treatment contracts ???   Clinical history grants to award in March   Minimizing impediments to IT/Informatics tools use   Disease specific repositories

Workgroup Update Bioethics & Legal Issues Workgroup (Ed Goldman, JD and Jeffrey Brosco, MD, PhD – co-chairs)  Processes for accessing NBSTRN services and resources  Information resources for web site (e.g., what is the NBSTRN, IRB-101, MTAs, model consents)  Identifying policies and procedures required for participation within the network  Outlining policies for data sharing and access  Outlining FAQs  Discussing ethical and legal implications of NBS research on a national level, partnering with PRIM&R Newborn Screening Translational Research Network9

Bioethics - Issues   Data security   Agreements with NBSTRN users   When in process to allow access to resources   How many levels of password protection for different uses (e.g., accessing repositories, research work group data, external requests for data access)   Industry involvement

Workgroup update Information Technology Workgroup (Peter White, PhD – chair)  Expanding work group  Outlining website and NBSTRN IT structure  R4S adaptation to NBS pilot studies  Surveys of state’s and provider’s IT/Informatics capacities  Define requirements and timeline for development of LTFU data collection systems  Point of Care Data Capture tool  Associated data transfer (e.g., institutional EMRs, industry registries, NBSTRN databases)  Institutional databases  Data warehouses Newborn Screening Translational Research Network11

IT - Issues   Rare disease patient identifiability   Managing low incidence conditions   Tool development   FISMA compliance across IT platforms   508 compliance across public sections of websites

Thanks