Down Syndrome: National Conference on Patient Registries, Research Databases, and Biobanks - Agenda

Registration and Continental Breakfast

Welcome and Introductions
Yvonne Maddox, NICHD/NIH
Ed McCabe, Linda Crnic Institute for Down Syndrome (LCI)

Speaker Introduction
Yvonne Maddox, NICHD/NIH

Using surveillance Data to Inform Public Health Action: A Centers for Disease Control and Prevention (CDC) Perspective
Sonja Rasmussen, CDC

Speaker Introduction
Michelle Sie Whitten, GDSF

Update
Roger Reeves, John Hopkins University

I. Patient Registry Presentations: Examples of Successful Registries
Moderator: Ed McCabe, LCI

• Genetic Alliance Registry and BioBank: Accelerating Research through Collaboration
  Sharon Terry, Genetic Alliance
• Patient Registries: Examples of Models that Work
  Petra Kaufmann, National Institute of Neurological Disorders and Stroke/NIH
• A Fragile X Registry Toolkit
  Len Abbeduto, Waisman Center
• Creating a Contact Registry as a First Step Toward the Development of a Patient Registry for Down Syndrome
  Stephanie Sherman, Emory University

Overview of Facilitated Discussion
Patricia Adelstein, Consultant

Break

Breakout Session #1
Patient Registry Breakout Groups

Address the following questions:

• Group #1: What are the short-, mid-, and long-term goals of a Down syndrome contact registry from the perspective of various stakeholders (parents, medical care providers, researchers, government)?
  Co-Facilitators: Ed McCabe, LCI, and Lisa Kaeser, NICHD, NIH
• Group #2: Who should “own” and operate the Down syndrome contact registry? Who is responsible for maintaining it? What accountability should there be and to whom?
  Co-Facilitators: Linda McCabe, University of California, Los Angeles (UCLA), and Dana Bynum, NICHD, NIH
• Group #3: What are the issues around the technology/software that should be used for the Down syndrome contact registry? How is consistent and accurate data entry ensured? What issues may arise, and which can be managed/controlled?
  Co-Facilitators: Michelle Livingston, GDSF, and Mary Lou Oster-Granite, NICHD, NIH
• Group #4: What model is best for the Down syndrome contact registry? Does that differ depending on different stakeholders? What model offers the best protections for individuals/families?
  Co-Facilitators: Michelle Sie Whitten, GDSF,and Melissa Parisi, NICHD, NIH

Lunch  

II. Research Database Presentations
How can partnerships between families and scientists facilitate access to records and data for creating a database and advancing research?
Moderator: Mary Lou Oster-Granite, NICHD/NIH 

• Managing Consent/Assent Issues
  Jeffrey Krischer, University of South Florida
• Successful Models for Creating and Managing Databases
  Susana Serrate-Sztein, National Institute of Arthritis and Musculoskeletal Disorders/NIH
• Capture and Utilization of Data for Research at Clinical and Transitional Science Award Institutions
  Elaine Collier, National Center for Research Resources/NIH
• The National Database for Autism Research (NDAR): A Model for Research Repositories
  Dan Hall, National Institute of Mental Health/NIH

Break  

Breakout Session #2
Research Database Breakout Groups

Address the following questions:

• Group #1: What are individuals/families’ concerns associated with participating in a Down syndrome research database and potentially, clinical trials, and how should those be addressed? What outreach and informational efforts are needed to encourage participation, and by whom? Will results from studies that use the data be shared with the families?
  Co-Facilitators: Linda McCabe, UCLA, and Dana Bynum, NICHD/NIH
• Group #2: What issues might arise relating to privacy and confidentiality of information that will be included in a Down syndrome research database? How should issues of consent/assent/permission be addressed?
  Co-Facilitators: Ed McCabe, LCI, and Lisa Kaeser, NICHD, NIH
• Group #3: What interface is most user-friendly and accessible to maximize participation? Who would “own” the Down syndrome research database, and how would it be maintained, particularly if the database grows (internationally)? Who funds the database over the longer term? What costs are associated with this?
  Co-Facilitators: Michelle Livingston, GDSF, and Mary Lou Oster-Granite, NICHD/NIH
• Group #4: What data is essential to include in a Down syndrome research database? What database forums (models) already exist and could be adapted?
  Co-Facilitators: Michelle Sie Whitten, GDSF, and Melissa Parisi, NICHD/NIH

Break  

Dinner

Welcome
Yvonne Maddox, NICHD/NIH, and Ed McCabe, LCI

Recap of previous day’s proceedings
Facilitator: Patricia Adelstein, Consultant

Facilitated Discussion: What are the points of agreement on contact
registries and research databases?  What remains to be resolved?  What are
the next steps to make these tools a reality?
Facilitator: Patricia Adelstein, Consultant

• Models to Build Upon: The NICHD Brain and Tissue Bank
  Melissa Parisi, NICHD/NIH
• Resources for Down Syndrome Research in the National Institute of General Medical Sciences and National Institute on Aging Repositories at the Coriell Institute for Medical Research
  Dorit Berlin, Coriell Institute for Medical Research
• Global Rare Diseases Patient Registry Linked to Biorepositories Database: RD-HUB
  Yaffa Rubinstein, Office of Rare Disease Research/NIH
• The “Translational Nexus”: The Colorado Intellectual and Developmental Disabilities Research Center (IDDRC) Integrated Biobank, Databank, and Patient Registry
  Karl Pfenninger, University of Colorado
• Biotechnology Perspective
  Steve Williams, SomaLogic

Break

Breakout Session #3:
Biobank Breakout Groups

Address the following questions:

• Group #1: What types of research related to Down syndrome make it essential to have a research resource such as a biobank? What tissues would be optimal to collect? What are the challenges with collecting these samples (e.g., procurement, quality control, regulatory issues), and how should these issues be addressed?
  Co-Facilitators: Michelle Sie Whitten, GDSF, and Mary Lou Oster-Granite, NICHD/NIH
• Group #2: What Institutional Review Board issues are likely to arise in collecting tissues from individuals with Down syndrome (consent, etc.), and how can those be addressed? How is the information from the samples protected (confidentiality)? Can we learn from existing brain/tissue banks?
  Co-Facilitators: Linda McCabe, UCLA, and Dana Bynum, NICHD/NIH
• Group #3: What logistical and technological issues arise during maintenance of a brain and tissue bank, and how should those issues be addressed? What are the costs involved with long-term maintenance of a biobank? Can expansion be accommodated? Should there be a centralized biobank, or several “regional” biobanks?
  Co-Facilitators: Ed McCabe, LCI, and Melissa Parisi, NICHD/NIH
• Group #4: What are the best ways to reach out to families regarding donation of tissues to the biobank? Who should conduct that outreach?
  Co-Facilitators: Michelle Livingston, GDSF, and Lisa Kaeser, NICHD/NIH

Lunch

Group Reports and Facilitated Discussion
Facilitator: Patricia Adelstein, Consultant

IV. Next Steps/Action Items
Yvonne Maddox, NICHD/NIH

V. Closing Remarks
Ed McCabe, LCI, and Michelle Sie Whitten, GDSF