Agenda

Newborn Screening Translational Research Network Virtual Repository of Dried Blood Spots

Investigator DemonstrationFebruary 16, 2012

Call in Number: (470) 200-0303Access Code: 682-449-951

Newborn Screening Translational Research Network

AgendaPresenter and Speaker IntroductionsAbout the Newborn Screening Translational Research NetworkTraining Webinar TopicsAbout the Virtual RepositoryResponding to QuestionsInstitution AdministrationRequest AdministrationOrder and Shipping AdministrationQuestion and AnswerNewborn Screening Translational Research Network*


IntroductionsAmy Hoffman, MPHProject ManagerNewborn Screening Translational Research Network (NBSTRN) American College of Medical Genetics (ACMG) [email protected]

Erica Marrari, PMPProject Manager 5AM Solutions, Inc. [email protected] Screening Translational Research Network*


Goals of the Hunter Kelly Newborn Screening ProgramNewborn Screening Translational Research Network*


NBSTRN Mission

The mission of the Newborn Screening Translational Research Network (NBSTRN) is to improve the health outcomes of newborns with genetic or congenital disorders by means of an infrastructure that allows investigators access to robust resources for newborn screening research.

Newborn Screening Translational Research Network*


Scope of WorkNetwork of State NBS Programs and Clinical CentersNational Research informatics systemRepository of dried blood spots (virtual)IRB, consent, policy expertise and supportFacilitate research on new technologiesFacilitate research on effectiveness of treatments and long-term outcomesStatistical leadership and clinical trial design expertiseFacilitate timely dissemination of research findingsRecruit steering committee to make recommendations



NBSTRN OrganizationNewborn Screening Translational Research Network*Key Partners: APHL, Genetic Alliance, Regional Collaboratives, NNSGRC, Federal Agencies (Centers for Disease Control (CDC), Health Resources and Services Administration (HRSA), National Institutes of Health (NIH))Network of ExpertsNICHD Staff:Tiina Urv, Project OfficerKatharine Minker, Contract Officer


Project Time FrameworkYears 1-2 were mainly developmentalIT and informaticsWebsite and contentTools and resourcesBioethical and legal issuesYears 3-5 are implementationPilots to test NBSTRN infrastructureOngoing development and refinementGrantee and contractor collaborations developingNewborn Screening Translational Research Network*


VRDBS OverviewA Centralized, web-based inventory of available DBS specimensAllow Investigators to search and request DBS specimensProvide Administrators with tools to review, approve/deny, and manage requestsProvide State Lab Technicians with ability to track shipmentsProvide Investigator feedbackLoad DBS data from participating States into the central Repository



Value of the VRDBSProvide simultaneous cross-state view of available DBS for participating statesProvide insight into the data elements a state collects (early stage investigators)Provide a single-point to browse the rules and regulations of each stateAutomate the workflow and provide a single point for request managementProvide a secure-web-based tool for State NBS Laboratories to share their data more easily to the research community



VRDBS Onboarding ProcessNewborn Screening Translational Research Network*


VRDBS System RolesNewborn Screening Translational Research Network*

RoleFunctionInvestigatorSearch, Request Letters of Support, Submit Questions to NBS Programs, Submit DBS Request Access to their own data onlyNBSTRN AdministratorManage Registrants, Manage States Access to all States functions/dataState Administrator(Participating States)Respond to Questions, Review and Comment on DBS Requests, Approve/Deny DBS Requests, Manage Inventory Access to own States functions/data onlyState Lab Technician(Participating States)Manage Inventory, Distribute DBS Access to own States data only


VRDBS Workflow Overview Newborn Screening Translational Research Network*


Newborn Screening Translational Research Network*Virtual Repository Demonstration


Question and AnswerPlease use the dialogue box on the webinar to submit questions.Newborn Screening Translational Research Network*


Monthly VRDBS Training DatesNewborn Screening Translational Research Network*

Intended AudienceDateWebinar TopicsInvestigatorMarch 15, 2012, 2:00 PM ETRegistration link: https://www1.gotomeeting.com/register/472180360Search for Dried Blood SpotsRequest Dried Blood SpotsProvide feedback on Dried Blood SpotsState Administrator and State Lab TechnicianApril 19, 2012, 2:00 PM ETRegistration link: https://www1.gotomeeting.com/register/503716536Shipping and Order AdministrationDried Blood Spot AdministrationParticipant AdministrationReview Dried Blood Spot FeedbackInvestigatorMay 17, 2012, 2:00 PM ETRegistration link: https://www1.gotomeeting.com/register/759286233About the Virtual RepositoryHow to Use This SiteResearch Support


Thank YouThank you for attending todays Newborn Screening Translational Research Networks Virtual Repository of Dried Blood Spots webinar

For more information, please visit nsbtrn.org or email [email protected]

NBSTRN is funded by contract HHSN27520080001C from theEunice Kennedy ShriverNational Institute of Child Health and Human Development, National Institutes of Health



ACMGACMG**Thank you for joining the Newborn Screening Translational Research Networks demonstration of the Virtual Repository of Dried Blood Spots. We will begin our presentation shortly. All of the phone lines are in listen only mode so you may use the dialog box on the webinar for any questions or comments.ACMGToday were going to introduce you to our speakers, give a brief overview of the Newborn Screening Translational Research Network, and give a high level overview of the Virtual Repository and the functions available to the State Administrators and Technicians. These include responding to questions, institution administration and request administration. Well leave some time at the end of the hour for questions and answers.ACMG**ACMGYour presenters for today are myself, Amy Hoffman, the Project Manager of the Newborn Screening Translational Research Network, and Erica Marrari, the Project Manager at 5AM Solutions, the subcontractor were working with to develop the Virtual Repository. ACMG**ACMGAs part of the Newborn Screening Saves Lives Act the Hunter Kelly Newborn Screening Program was developed. This program focuses on the improvement of current newborn screening tests, as well as development of new tests for current conditions and the addition of new conditions to the newborn screening panel. Also included in the program is development of diagnostics, treatments, and disease management tools throughout the lifespan.

One of the key components of this program is the Newborn Screening Translational Research Network or NBSTRN. The NBSTRN is a contract from NICHD to the American College of Medical Genetics (ACMG).

*ACMGOur scope of work is defined by the contract and includes 9 specific goals.

The target audience for our tools and resources is researchers, grantees and investigators conducting research related to newborn screening.

ACMG**ACMGThe NBSTRN is organized into a Coordinating Center staffed by ACMG employees.We have an advisory Standing Committee and four main workgroups. Workgroups are voluntary and consist of national experts, clinicians, consumers, and partner agency representatives.Our workgroups meet semiannually and have regular conference calls.Key partners in our efforts include the Association of Public Health Laboratories, Genetic Alliance, the Regional Genetic Collaboratives, the National Newborn Screening and Genetics Resource Center, and several federal agencies.

ACMG**ACMGThe NBSTRN is currently in the fourth year of the contract. Our first two years focused on building our infrastructure including our network of experts, our website, our tools and resources, and we also focused on several bioethical and legal issues.

The latter years of the contract are focused on the implementation of our resources. We continue to develop and refine the tools and resources as our pilots are beginning. We are also developing collaborations with grantees and contractors who are beginning to utilize the NBSTRN resources and infrastructure. ACMG**ACMGAs mentioned on a previous slide, one of the key tools we are charged with developing is a repository of dried blood spots. We have chosen to do this in a virtual manner through the Virtual Repository of Dried Blood Spots or VRDBS.

The VRDBS is a centralized, web-based source to access specimens for newborn screening related research and program development. This virtual repository is designed to represent information about the available dried blood spot specimens in a consistent and virtual manner to allow investigators to search for and request dried blood spots (DBS) from states participating in the virtual repository. All specimens remain in control of the state public health programs and requests for specimen use is approved at the state level.

For public health departments of the participating states, the virtual repository provides the ability to review and manage sample requests, generate orders, track shipments, and view investigator feedback regarding the samples they have received.

ACMG**ACMGDried blood spots from infants that have confirmed, diagnosed conditions for rare genetic diseases are among the most difficult to acquire for those investigators committed to improving the pace of progress of translational research. DBS are at the core of discovery-oriented scientific research. Finding and acquiring quality dried blood spots is one of the largest obstacles Investigators face as they strive to advance medical genetics science and improve patient care. The VRDBS provides an innovative way to facilitate the finding and sharing of DBS for research and the advancement of science, without compromising dried blood spot integrity or use.

NBSTRN**ACMGState participation in the virtual repository happens through a structured onboarding process.

The first step isACMG**ACMGThere are four main roles within the Virtual Repository. During todays demonstration, we will be focusing on the State Administrator who can respond to questions submitted by investigators, review specimen requests submitted by investigators, share comments on a request with other states, and approve or deny specimen requests submitted by investigators.

Other roles in the VRDBS include the investigator and the NBSTRN Administrator. Next months VRDBS demo will focus on the investigator role in more detail, such as searching for and requesting specimens, as well as providing feedback on the specimens that were received.NBSTRN**ACMGThis diagram shows you the high level workflow of the application. Step one, the investigator registers with the system. Step two, the investigator searches the system for specimens from either the general population or from archived specimens that are diagnosed for a specific condition. Three, the investigator submits their request. Four, the contributing states then review the request. Five, for each approved request, contributing states configure the order for shipment and send it out. Six, the investigator records the quality of the shipment received in the system so that contributing states can review the feedback., and returns any remaining specimens, if required by the state. NBSTRN**ACMGAnd now, Erica Marrari will go into more detail of the VRDBS functionality. ACMG**ACMGACMG**ACMGThe slides used in these webinars will be posted on nbstrn.org as soon as possible. If you would be interested in a more detailed demonstration of the VRDBS for your colleagues or your state program, please contact us. ACMG**

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