作者: Marshall, Christian R. ; Glazer, David ; Hill, Sue L ; Lunt, Chris ; Ginsburg, Geoffrey S ; Hill, Sue L. ; Rendon, Augusto ; Effingham, Mark ; Page, Angela ; Rehm, Heidi L ; Ali, Raghib ; Hastings Ward, Jillian ; Allen, Naomi ; Scott, Richard H. ; Ginsburg, Geoffrey S. ; Goodhand, Peter ; Marshall, Christian R ; Rehm, Heidi L. ; Scott, Richard H ; North, Kathryn N. ; North, Kathryn N ; Hofmann, Oliver ; Stark, Zornitza

Genomic data from millions of individuals have been generated worldwide to drive discovery and clinical impact in precision medicine. Lowering the barriers to using these data collectively is needed to equitably realize the benefits of the diversity and scale of population data. We examine the current landscape of global genomic data sharing, including the evolution of data sharing models from data aggregation through to data visiting, and for certain use cases, cross-cohort analysis using federated approaches across multiple environments. We highlight emerging examples of best practice relating to participant, patient and community engagement; evolution of technical standards, tools and infrastructure; and impact of research and health-care policy. We outline 12 actions we can all take together to scale up efforts to enable safe global data sharing and move beyond projects demonstrating feasibility to routinely cross-analysing research and clinical data sets, optimizing benefit.

2024-10-01·Nature Genetics

Defining and pursuing diversity in human genetic studies

Article

作者: Lewis, Anna C F ; Lewis, Anna C. F. ; Ho, Calvin Wai Loon ; Thorogood, Adrian ; Thaldar, Donrich ; Gonzlez, Ariana ; Bombard, Yvonne ; Nelson, Sarah C ; Lumaka, Aimé ; Nelson, Sarah C. ; Knoppers, Bartha Maria ; Raven-Adams, Maili C. ; Chandrasekharan, Subhashini ; Kumuthini, Judit ; Liu, Hanshi ; Hernandez-Boussard, Tina ; Raven-Adams, Maili C ; Henriques, Sasha ; Jamuar, Saumya Shekhar ; Nasir, Jamal ; Joly, Yann ; Kaiser, Beatrice ; Muralidharan, Vijaytha ; Costa, Alessia

Calls for more diverse data in genetics studies typically fall short of offering further guidance.Here we summarize a policy framework from the Global Alliance for Genomics and Health designed to fill this gap.The framework prompts researchers to consider both what types of diversity are needed and why, and how aims can be achieved through choices made throughout the data life cycle.

2024-07-01·Nature Genetics

A proposal for an inclusive working definition of genetic discrimination to promote a more coherent debate.

Review

作者: Ryan, Rosalyn ; Kaiser, Beatrice ; Dupras, Charles ; Bombard, Yvonne ; Tiller, Jane ; Uberoi, Diya ; Joly, Yann ; Raven-Adams, Maili C ; Prince, Anya E R ; Moreno, Palmira Granados ; Ahmed, Arzoo ; Chandrasekharan, Subhashini ; Cheung, Katherine ; Valderrama-Aguirre, Augusto ; Bruns, Andreas ; Otlowski, Margaret

Genetic discrimination is an evolving phenomenon that impacts fundamental human rights such as dignity, justice and equity. Although, in the past, various definitions to better conceptualize genetic discrimination have been proposed, these have been unable to capture several key facets of the phenomenon. In this Perspective, we explore definitions of genetic discrimination across disciplines, consider criticisms of such definitions and show how other forms of discrimination and stigmatization can compound genetic discrimination in a way that affects individuals, groups and systems. We propose a nuanced and inclusive definition of genetic discrimination, which reflects its multifaceted impact that should remain relevant in the face of an evolving social context and advancing science. We argue that our definition should be adopted as a guiding academic framework to facilitate scientific and policy discussions about genetic discrimination and support the development of laws and industry policies seeking to address the phenomenon.

100 项与 The Global Alliance For Genomics & Health 相关的药物交易

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100 项与 The Global Alliance For Genomics & Health 相关的转化医学

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