Genomic Data Sharing

Genomic Data Sharing

Case Studies, Challenges, and Opportunities for Precision Medicine

1st Edition - November 1, 2022

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  • Editors: Jennifer Mccormick, Jyotishman Pathak
  • Paperback ISBN: 9780128198032

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Genomic Data Sharing: Case Studies, Challenges, and Opportunities for Precision Medicine provides a comprehensive overview of current and emerging issues in genomic data sharing. In this book, international leaders in genomic data examine these issues in-depth, offering practical case studies that highlight key successes, challenges and opportunities. Sections discuss the eMERGE Network, Undiagnosed Disease Network, Vanderbilt Biobank, Marshfield Clinic Biobank, Minnesota Authorization, Rochester Epidemiology Project, NIH sponsored biobanks, GINA, and Global Alliance for Genomics and Health (GA4GH). In addition to these perspectives from the frontlines, the book also provides succinct overviews of ethical, legal, social and IT challenges.Clinician investigators, clinicians affiliated with academic medical centers, policymakers and regulators will also gain insights that will allow them to navigate the increasingly complex ethical, social and clinical landscape of genomic data sharing.

Key Features

  • Covers both technical and ELSI (ethical, legal, and social implications) perspectives on genomic data sharing
  • Includes applied case studies of existing genomic data sharing consortia, including the eMERGE Network, Undiagnosed Disease Network, and the Global Alliance for Genomics and Health (GA4GH), among others
  • Features chapter contributions from international leaders in genomic data sharing


Active researchers, basic and translational scientists, clinicians, postgraduates, and students in the areas of genetics, human genomics, pathology and bioinformatics; medical students, pediatricians; internal medicine physicians and residents; genetic counselors, and genetic counseling students; clinical and laboratory genetics trainees (residents and fellows); law students and legal professionals; students and professional in biomedical ethics, research ethics, public policy, and regulatory practice

Table of Contents

  • 1. Introduction
    Jennifer McCormick and Jyotishman Pathak
    2. Consortium example: eMERGE Network
    Rex Chisholm and Maureen Smith - both at Northwestern University
    3. Consortium example: Undiagnosed Disease Network
    Isaac Kohane – Harvard and Euan Ashley – Stanford
    4. Biobank example: Vanderbilt
    Ellen Clayton and Dan Roden - both at Vanderbilt
    5. Biobank example: Marshfield Clinic
    Cathy McCarty - Univ of Minnesota Duluth and Murray H Brilliant - Marshfield Clinic
    6. State Law: Minnesota Authorization and the Rochester Epidemiology Project
    Walter Rocca - Mayo Clinic
    7. US Regulatory frameworks: Convergence of HIPAA and NIH Data sharing Policy
    Laura Lyman Rodriguez - NIH
    8. US Regulatory frameworks: GINA
    Sharon Terry - Genetic Alliance
    9. An international alliance: Global Alliance for Genomics and Health (GA4GH)
    Robert Freimuth – Mayo Clinic, Melissa Haende – Oregon Health and Sciences University
    10. Security: Whose perspective matters?
    Brad Malin,- Vanderbilt, Mark Rothstein – University of Louisville, Mark Williams - Geisinge
    11. Data governance: What does it mean and who are the stakeholders?
    Barbara Koenig – UCSF, Christopher Chute Johns Hopkins, James Cerhan – Mayo Clinic
    12. Concluding Chapter
    Jennifer McCormick and Jyotishman Pathak

Product details

  • No. of pages: 360
  • Language: English
  • Copyright: © Academic Press 2022
  • Published: November 1, 2022
  • Imprint: Academic Press
  • Paperback ISBN: 9780128198032

About the Editors

Jennifer Mccormick

Dr. McCormick is an interdisciplinary academic having completed a doctorate degree in molecular and cellular biology, postdoctoral fellowship in biological chemistry, masters’ degree in public policy, and NIH Center of Excellence in ELSI Research fellowship. She conducts empirical studies examining the policy implications and ethical challenges of translating research into clinical care and public health. Much of her work focuses on the ethical, legal, political, and social implications of medical record and genomic data sharing, the challenges to protecting participants’ privacy and confidentiality in the era of ‘big data’, and the ethical complexities presented by translating genomic research findings into clinical and public health domains. She has also been involved in initiatives aimed at enhancing human participation in research and promoting professionalism and social responsibility in biomedical research. She lectures frequently on topics related to research and translational research ethics, translational genomics, and social responsibility and policy. She has published on topics related to research ethics consultation, genetic and genomic research and biobanking, human research participant engagement and protection, and challenges in translational research. Beyond Sputnik: US Science Policy in the 21st Century (Neal, Smith, and McCormick) is considered one of the first general textbooks on national science policy and is used in science policy training and fellowship programs.

Affiliations and Expertise

Associate Professor, Department of Humanities, Penn State College of Medicine, Hershey, PA, USA

Jyotishman Pathak

Dr. Pathak is the Frances & John L. Loeb Professor of Medical Informatics and the Chief of Division of Health Informatics at Weill Cornell Medicine, Cornell University, New York. Prior to joining Weill Cornell, he was the Professor of Biomedical Informatics at Mayo Clinic in Rochester, Minnesota (2007-2015) where he led two major NIH/HHS funded initiatives—the Electronic Medical Records and Genomics (eMERGE) and Strategic Health IT Research Project (SHARP) projects—which have pioneered techniques for high-throughput phenotyping from the electronic medical record. His research interests and expertise lie in developing and applying informatics methods for data mining and phenotype extraction from electronic medical records (EMRs), and their applications in pharmacogenomics, comparative effectiveness research, and population health research, particularly focusing on mental health disorders. Throughout his career, he has led and collaborated across multiple investigators in several NIH/DHHS consortiums, including, most recently at Mayo, as the Co-PI of eMERGE and PI of PCORI Learning Health Systems Clinical Data Research Network, and currently at Weill Cornell, as the Co-PI for the PCORI New York City Clinical Data Research Network (NYC-CDRN) and the PI for NIH Big Data to Knowledge (BD2K) R25 Training and Education Program on Biomedical Informatics (BD2BMI).

Affiliations and Expertise

Frances and John L. Loeb Professor of Medical Informatics and Chief, Division of Health Informatics, Weill Cornell Medicine, Cornell University, NY, USA

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