Whole Genome Approaches to Complex Kidney Disease

Event Details

Cross-cutting Questions

1. What are the technologies that will be most useful for human genetics over the next 3-5 years?
2. What populations, clinical samples, and phenotypic information do we need to most effectively identify susceptibility genes for complex glomerular diseases?
3. How can we best use existing repositories and databases to extract information about kidney disease?
4. How can we analyze, interpret and share the massive datasets that will be generated by whole genome/exome approaches?
5. What are the relevant ethical, legal, and social issues now and what is on the horizon?
6. How can we enhance public access to genetic information and help individuals understand the concept of genetic susceptibility in general and their own genetic profiles in particular?
7. Which professionals will counsel individuals about their genetic risk for kidney disease, and what resources and training do they need?
8. How might genetic susceptibility information be integrated into nephrology and primary care practice to improve patient outcomes and reduce the burden of chronic kidney disease?

Steering Committee

Barry Freedman, Wake Forest Baptist Medical Center
Linda Kao, Johns Hopkins Bloomberg School of Public Health
Matthias Kretzler, University of Michigan
Martin Pollak, Harvard University
John Sedor, Case Western Reserve University
Andrey Shaw, Washington University in St. Louis - Co-Chair

NIH

Jeffrey Kopp, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) - Co-Chair
Michael Flessner, NIDDK
Paul Kimmel, NIDDK
Rebekah Rasooly, NIDDK
Sara Hull, National Human Genome Research Institute - Co-Chair
Cheryl Winkler, National Cancer Institute

Agenda

February 11, 2012

7:30 a.m. - 8:00 a.m.

Registration and Continental Breakfast

8:00 a.m. - 8:05 a.m.

Introduction
Robert Star, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Jeffrey Kopp, NIDDK

8:05 a.m. - 8:45 a.m.

Population Genetics to Personalized Medicine: An Icelandic Saga
Kari Stefansson, deCode, Iceland

8:45 a.m. - 9:00 a.m.

Discussion

Session I: Resources

9:00 a.m. - 9:30 a.m.

U.S. Studies and Repositories: Opportunity and Challenge
Linda Kao, The Johns Hopkins University

9:30 a.m. - 9:45 a.m.

Discussion

9:45 a.m. - 10:15 a.m.

European Studies and Repositories: Opportunity and Challenge
Gerjan Navis, University Medical Center Groningen, The Netherlands

10:15 a.m. - 10:30 a.m.

Discussion

10:30 a.m. - 11:00 a.m.

Break

11:00 a.m. - 11:30 a.m.

NCBI Databases of Genetic Variants—What Is Available and How Is It Best Used?
Wendy Rubinstein, NIH/NLM/NCBI

11:30 a.m. - 11:45 a.m.

Discussion

Session II: Study Designs

11:45 a.m. - 12:30 p.m.

Overview of Whole Genome Study Designs to Find Genes Contributing to Complex Diseases
Steve Rich, University of Virginia

12:30 p.m. - 12:45 p.m.

Discussion

12:45 p.m. - 1:30 p.m.

Lunch

Session III: Sequence and Analysis

1:30 p.m. - 1:45 p.m.

Introduction to Exome Studies: Approaches, Analysis, and Problems
Andrey Shaw, Washington University in St. Louis

1:45 p.m. - 2:15 p.m.

Rare Variant Analysis: Aggregation Methods
Suzanne Leal, Baylor College of Medicine

2:15 p.m. - 2:30 p.m.

Discussion

2:30 p.m. - 3:00 p.m.

Lessons From Genetic Analysis Workshop 17: Aggregation, Machine Learning, and Data Mining Approaches
Joan Bailey-Wilson, NHGRI

3:00 p.m. - 3:15 p.m.

Discussion

3:15 p.m. - 3:45 p.m.

Rare Variant Analysis: Design and Analysis Strategies
Xihong Lin, Harvard University

3:45 p.m. - 4:00 p.m.

Discussion

4:00 p.m. - 4:30 p.m.

Filtering and Integration of Exome Data Sets
Jamie Teer, National Institutes of Health Intramural Sequencing Center

4:30 p.m. - 4:45 p.m.

Discussion

4:45 p.m. - 5:00 p.m.

Break

5:00 p.m. - 5:30 p.m.

Data Annotation to Identify Actionable Variants
Ben Solomon, NHGRI

5:30 p.m. - 5:45 p.m.

Discussion

5:45 p.m. - 6:15 p.m.

Group Discussion-Issues in Data Analysis: What are the Challenges?
Andrey Shaw, Washington University in St. Louis
Cheryl Winkler, National Cancer Institute

Session IV: Ethical, Legal, and Social Issues

6:15 p.m. - 6:45 p.m.

Data Sharing: Access and Confidentiality
Laura Rodriguez, NHGRI

6:45 p.m. - 7:00 p.m.

Discussion

7:00 p.m. p.m.

Adjourn for the day

February 12, 2012

7:30 a.m. - 8:00 a.m.

Continental Breakfast

8:00 a.m. - 8:30 a.m.

Consent Issues: What Do Subjects Need to Know and How Do We Tell Them?
Julie Sapp, NHGRI

8:30 a.m. - 8:45 a.m.

Discussion

8:45 a.m. - 9:15 a.m.

Communicating Research Information to Subjects: Research Results and Incidental, Actionable Findings
Ben Berkman, NHGRI

9:15 a.m. - 9:30 a.m.

Discussion

9:30 a.m. - 10:00 a.m.

Ethnicity and Community: Impact of Genetic Findings and Disclosing Results
Malia Fullerton, University of Washington

10:00 a.m. - 10:15 a.m.

Discussion

10:15 a.m. - 10:30 a.m.

Break

10:30 a.m. - 12:00 p.m.

Breakout Groups

1. Cohorts: What data/samples should we collect from what populations?
   Linda Kao, The Johns Hopkins University
   Martin Pollak, Harvard University
2. ELSI: What is the optimal way to conduct whole genome research?
   Sara Hull, NHGRI
3. Incorporating genetic data into nephrology practice: What might the future look like and what is the research agenda?
   John Sedor, Case Western Reserve University

12:00 p.m. - 1:00 p.m.

Plenary Discussion and Working Lunch

Reports From Cohorts, ELSI, and Nephrology Practice Groups

1:00 p.m.

Adjournment
(NEPTUNE meeting begins)