nbstrn update ncc/rc pi/pd meeting november 19, 2010 michael watson
TRANSCRIPT
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