Ethical, Legal & Social Implications

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There has been much consideration of the ethical, legal and social issues related to genetics and genomics and in particular during and since the Human Genome Project in the 1990s and early 2000s.

In 2013, Yim & Chung[1] published a review of the major conventions, resolutions, declarations and guidelines related to genetics and genomics issued by international public organizations. Since 2013, updates and other reports have continued to be released and these international agreements and texts set the expectations and provide guidance.

HumGen International is a database on ethical, legal and social issues in human genetics and it maintains a database of international laws and policies (GenBiblio). A list of some of the key international documents is available here and a full list of the codes and policies guiding data sharing in particular can be found in Appendix 1 of the Framework for Responsible Sharing of Genomic and Health-Related Data (GA4GH).

Issues

Within the Catalogue of Global Genomic Medicine Implementation Initiatives, around half of all initiatives (31/61)* gave some acknowledgement to ELSI themes and this included a mix of all initiative types (policy frameworks, demonstration projects, population-specific studies and complete integration plans). The following are summaries of the topics.

[1]Yim, S.-H., & Chung, Y.-J. (2013). Introduction to International Ethical Standards Related to Genetics and Genomics. Genomics & Informatics, 11(4), 218–223. http://doi.org/10.5808/GI.2013.11.4.218

Capps B, Chadwick R, Joly Y, Lysaght T, Mills C, Mulvihill JJ, et al. Statement on bioinformatics and capturing the benefits of genome sequencing for society. Human Genomics. 2019;13(1):24.

* Initiatives from the Catalogue that acknowledge ELSI themes

Africa (2) - Human Heredity and Health in Africa (H3Africa) White Paper, Human Heredity and Health in Africa (H3Africa) Initiative

Australia (6) - National Health Genomics Policy Framework, Australian Genomics, Australian Genomics Health Futures Mission, Genetic and Genomic Health care for Victoria 2021, NSW Health Genomics Strategy, Queensland Genomics

Canada (3) - Genome Canada Strategic Plan 2012-17, Genome Canada, Genome BC - Strategy for Genomics in the Health Sector in British Columbia

Denmark (2) - GenomeDenmark platform, National Strategy for Personalised Medicine 2017-2020

Europe (1) - Ubiquitous Pharmacogenomics (U-PGx)

Finland (1) - Improving Health through the use of Genomic Data

France (1) - French Plan for Genomic Medicine 2025

Global (1) - The International Cancer Genome Consortium for Medicine (ICGCmed) Whitepaper

Italy (1) - National Plan for Public Health Genomics

Mexico (1) - Promotional Consortium of the National Institute of Genomic Medicine - National Institute of Genomic Medicine (INMEGEN)

Middle East (1) - Centre for Arab Genomic Studies

New Zealand (1) - Genomics Aotearoa

Qatar (1) - Qatar Genome Programme (QGP)

South Korea (1) - Genomic Medicine in Korea: Plan and Infrastructure - Genome Technology to Business Translation Program

Spain (1) - CIBERER (Center for Network Research on Rare Diseases)

Switzerland (1) - Swiss Personalized Health Network (SPHN)

Thailand (1) - Genomics Thailand

United Kingdom (3) - Building on our inheritance - Genomic technology in healthcare - A report by the Human Genomics Strategy Group, The 100,000 Genomes Project Protocol, Generation Genome - Annual Report of the Chief Medical Officer 2016

USA (2) - The 2011 NHGRI strategic plan - Charting a course for genomic medicine from base pairs to bedside, All of Us (Precision Medicine Initiative)