NBSTRN UpdateNBSTRN Update

NCC/RC PI/PD MeetingNovember 19, 2010

Michael WatsonMichael Watson

Workgroup UpdateWorkgroup Update

Laboratory Workgroup Laboratory Workgroup (Stan Berberich, PhD – chair)(Stan Berberich, PhD – chair)

Mission of this workgroup: The mission of the NBSTRN Laboratories Mission of this workgroup: The mission of the NBSTRN Laboratories Workgroup is to facilitate Workgroup is to facilitate qualityquality research that improves health outcomes research that improves health outcomes while ensuring continuity of newborn screening services and public while ensuring continuity of newborn screening services and public trust.  In collaboration with appropriate stakeholders we will: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 Enable researchers to partner with state NBS programs

Improve access to and facilitate responsible release of newborn Improve access to and facilitate responsible release of newborn dried blood spot specimens dried blood spot specimens

Establish a virtual repository of DBS potentially available for Establish a virtual repository of DBS potentially available for researchresearch

Newborn Screening Translational Research Network 2

NBSTRN Dried Blood Spot Virtual RepositoryNBSTRN Dried Blood Spot Virtual Repository

3

State ParticipationState Participation

Current DiscussionsCurrent Discussions CaliforniaCalifornia IowaIowa New YorkNew York

On HoldOn Hold IndianaIndiana MinnesotaMinnesota MichiganMichigan

Next to ContactNext to Contact FloridaFlorida TexasTexas

4Newborn Screening Translational Research Network

Labs IssuesLabs 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 UpdateWorkgroup Update

Clinical Centers WorkgroClinical Centers Workgroup up (Susan Berry, MD – chair)(Susan Berry, MD – chair) The Clinical Centers Workgroup met jointly with the NCC LTFU The Clinical Centers Workgroup met jointly with the NCC LTFU

Workgroup on October 14-15, 2010 in Bethesda, MD. Discussions at this Workgroup on October 14-15, 2010 in Bethesda, MD. Discussions at this meeting included:meeting included:

Completing datasets that reflect diagnosis, management and evaluation Completing datasets that reflect diagnosis, management and evaluation protocols for:protocols for: metabolic diseasesmetabolic diseases hemoglobinopathies group working closely with CDC, NHLBI, and NICHDhemoglobinopathies group working closely with CDC, NHLBI, and NICHD endocrinopathy work group is planning a meeting to finish their datasets endocrinopathy work group is planning a meeting to finish their datasets

Newborn Screening Translational Research Network 6

Workgroup UpdatesWorkgroup Updates

LSD Pilot ProjectsLSD Pilot Projects Developing the state LSD screening into a pilot project of the NBSTRNDeveloping 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, Disease specific elements identified for Pompe, Fabry, Niemann Pick,

Gaucher, and Krabbe diseasesGaucher, and Krabbe diseases

• Discussions around linking to existing registriesDiscussions around linking to existing registries

SCID NBS Pilot ProjectSCID NBS Pilot Project Subcontract to New York State to fund costs of the laboratory Subcontract to New York State to fund costs of the laboratory

screening to increase numbers in pilotsscreening to increase numbers in pilots NBSTRN supporting administration of meetings, follow-up datasets, NBSTRN supporting administration of meetings, follow-up datasets,

provider network development, ACT Sheet developmentprovider network development, ACT Sheet development

Data entry into the R4S databaseData entry into the R4S database Adapting IT/Informatics tools to pilotsAdapting IT/Informatics tools to pilots BiospecimensBiospecimens

Newborn Screening Translational Research Network 7

Clinical Centers - IssuesClinical 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 UpdateWorkgroup Update

Bioethics & Legal Issues Workgroup Bioethics & Legal Issues Workgroup (Ed Goldman, JD and Jeffrey (Ed Goldman, JD and Jeffrey Brosco, MD, PhD – co-chairs)Brosco, MD, PhD – co-chairs)

Processes for accessing NBSTRN services and resourcesProcesses for accessing NBSTRN services and resources Information resources for web site (e.g., what is the NBSTRN, IRB-101, Information resources for web site (e.g., what is the NBSTRN, IRB-101,

MTAs, model consents) MTAs, model consents) Identifying policies and procedures required for participation within the Identifying policies and procedures required for participation within the

networknetwork Outlining policies for data sharing and accessOutlining policies for data sharing and access

Outlining FAQsOutlining FAQs Discussing ethical and legal implications of NBS research on a national Discussing ethical and legal implications of NBS research on a national

level, partnering with PRIM&Rlevel, partnering with PRIM&R

Newborn Screening Translational Research Network 9

Bioethics - IssuesBioethics - 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 updateWorkgroup update

Information Technology Workgroup Information Technology Workgroup (Peter White, PhD – (Peter White, PhD – chair)chair)

Expanding work groupExpanding work group Outlining website and NBSTRN IT structureOutlining website and NBSTRN IT structure R4S adaptation to NBS pilot studiesR4S adaptation to NBS pilot studies Surveys of state’s and provider’s IT/Informatics capacitiesSurveys of state’s and provider’s IT/Informatics capacities Define requirements and timeline for development of LTFU data Define requirements and timeline for development of LTFU data

collection systemscollection systems Point of Care Data Capture toolPoint of Care Data Capture tool Associated data transfer (e.g., institutional EMRs, industry registries, Associated data transfer (e.g., institutional EMRs, industry registries,

NBSTRN databases)NBSTRN databases) Institutional databasesInstitutional databases Data warehousesData warehouses

Newborn Screening Translational Research Network 11

IT - IssuesIT - Issues

Rare disease patient identifiability Managing low incidence conditions

Tool development FISMA compliance across IT platforms 508 compliance across public sections of

websites

Thanks