About the Book
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.
Table of Contents:
1. Introduction
Jennifer B. McCormick and Jyotishman Pathak
2. From Public Resources to Improving Health: How genomic data sharing empowers science and medicine
Laura Lyman Rodriguez and Elena Marie Ghanaim
3. Biobank case example: Marshfield Clinic
Catherine A McCarty and Deanna Cross
4. Multidirectional Genetic and Genomic Data Sharing in the All of Us Research Program
Katherine Davison Blizinsky, Subhashini Chandrasekharan, Sonya Jooma, Jessica Reusch and Kimberly Ann Thomson
5. A community approach to standards development: the Global Alliance for Genomics and Health (GA4GH)
Angela Page, Melissa Haendel, and Robert R. Freimuth
6. Clinical Genomic Data on FHIR®: Case Studies in the Development and Adoption of the Genomics Reporting Implementation Guide
Robert Freimuth, Robert Milius, Mullai Murugan and May Terry
7. Genomics Data Sharing
Judit Kumuthini, Lyndon Zass, Melek Chaouch, Faisal M. Fadlelmola, Nicola Mulder, Fouzia Radouani, Verena Ras, Chaimae Samtal, Milaine Sergaine, Dassen Sathan, Anisah Ghoorah, Raphael Sangeda, Liberata Mwita, Upendo Masamu, Samar Kamal Kassim, Zoe Gill, Zahra Mungloo-Dilmohamud, and Gordon Wells
8. Data Standardization in the Omics field
Judit Kumuthini, Lyndon Zass, Melek Chaouch, Zoe Gill, Verena Ras, Zahra Mungloo-Dilmohamud, Dassen Sathan, Anisah Ghoorah, Faisal Fadlelmola, Christopher Fields, John Van Horn, Fouzia Radouani, Melissa Konopko, Emile Chimusa, Shakuntala Baichoo
9. Data Sharing: The Public’s Perspective
James O'Leary
10. Genetic Data Sharing in the View of the EU General Data Protection Regulation (GDPR)
Pieter De Smet (LL.M.) – Mahsa Shabani (PhD)
11. Genomic Data Sharing and Intellectual Property
Jorge L Contreras
12. Genomic Data Sharing: Case Studies, Challenges, and Opportunities for Precision Medicine
Dimitri Patrinos, Michael Lang and Ma’n H. Zawati
About the Author :
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. 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).
