There is recognition of the need to have harmonised and predictable regulatory procedures for genetic and genomic tests. Such regulatory procedures can ensure coordination between regulatory authorities and provide coherence across jurisdictions for diagnostics and therapies, as well as for data protection and clinical trials.

The regulatory issues in genomic medicine include privacy, data sharing, discrimination, lab and test/device accreditation. There is some overlap between the regulation theme and the Ethical, Legal and Social Implications (ELSI) theme.

A key international group involved in regulation of genomic medicine is the International Medical Device Regulators Forum which came together in 2011 to build on the work of the Global Harmonization Task Force on Medical Devices (GHTF). The IMDRF Management Committee is composed of regulatory officials and provides guidance on strategies, policies, directions, membership and activities of the Forum as well as overseeing Working Groups, which draw upon expertise from various stakeholder groups such as industry, academia, healthcare professionals, consumer and patient groups. The current members of the Forum are: Australia, Brazil, Canada, China, Europe, Japan, Russia, Singapore, South Korea, and the United States of America. The World Health Organization (WHO) and the APEC LSIF Regulatory Harmonization Steering Committee are Official Observers and the Asian Harmonization Working Party (AHWP) and the Pan American Health Organization (PAHO) are IMDRF Affiliate Organizations.


Within the Catalogue of Global Genomic Medicine Implementation Initiatives, less than a third of the initiatives (16/61)* gave some acknowledgement to regulation. The following are summaries of key topics.

Resources on Regulatory Agencies and approaches:

Vokinger KN, Muehlematter UJ, Rosemann TJ. Access to Cancer Precision Medicines in Switzerland: A Comparative Analysis (USA and EU) and Health Policy Implications. Public Health Genomics. (2019). [Epub ahead of print]

Chou AF, Mulvihill J, Kaye C, Mann S, Williams MS, Williamson L. Developing a genetic services assessment tool to inform quality improvement efforts in state genetic service delivery. Genetics in Medicine. 21(4):955-64. (2019)

Regulation of Genetic Tests, Issues in Genetics, National Human Genome Research Institute.

Sarata. A and J. Johnson., Regulation of Clinical Tests: In Vitro Diagnostic (IVD) Devices, Laboratory Developed Tests (LDTs), and Genetic Tests. Congressional Research Service. (2014)

M. Curnutte, Regulatory controls for direct-to-consumer genetic tests: a case study on how the FDA exercised its authority. New Genetics and Society 36, 209-226 (2017).

Guidance for Industry and Food and Drug Administration Staff. In Vitro Companion Diagnostic Devices (2014

IVD medical devices regulation basics. Therapeutic Goods Administration. Department of Heath Australian Government.

European Regulatory Framework for Medical Devices. European Commission.

L. Kalokairinou et al., Legislation of direct-to-consumer genetic testing in Europe: a fragmented regulatory landscape. Journal of Community Genetics 9, 117-132 (2018).

B. Olberg, M. Perleth, R. Busse, The new regulation to investigate potentially beneficial diagnostic and therapeutic methods in Germany: up to international standard? Health Policy 117, 135-145 (2014).

Regulatory Guide. Medical Devices. China Food and Drug Administration.

N. Yamamoto et al., The inclusion of genomic data in the 2015 revision of Japan's Protection of Personal Information Act: protection of wider range of genomic data as our next challenge. J Hum Genet 63, 537-538 (2018).

G. Matthijs et al., Guidelines for diagnostic next-generation sequencing. European Journal of Human Genetics 24, 2 (2015).

S. Roy et al., Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines: A Joint Recommendation of the Association for Molecular Pathology and the College of American Pathologists. J Mol Diagn 20, 4-27 (2018).

E. S. Lander, Cutting the Gordian Helix — Regulating Genomic Testing in the Era of Precision Medicine. The New England Journal of Medicine 372, 1185-1186 (2015).

C. P. Colin Mitchell, Victoria Chico, Elizabeth Ormondroyd, Alison Hall, Susan Wallace, Michael Fay, Deirdre Goodwin, Jessica Bell, Simon Phillips, Jenny C. Taylor, Raoul Hennekam and Jane Kaye, Exploring the potential duty of care in clinical genomics under UK law. Medical Law International 17, 158-182 (2017).

W. L. Lori Knowles, Tania Bubela, Paving the road to personalized medicine: recommendations on regulatory, intellectual property and reimbursement challenges. Journal of Law and the Biosciences, 1-54 (2017).

L. A. Renfro, D. J. Sargent, Statistical controversies in clinical research: basket trials, umbrella trials, and other master protocols: a review and examples. Ann Oncol 28, 34-43 (2017)

* Initiatives from the catalogue that acknowledge Regulation themes

 Africa (1) - Human Heredity and Health in Africa (H3Africa) Initiative

Australia (3) - National Health Genomics Policy Framework, Genetic and genomic healthcare for Victoria 2021, Australian Genomics

Canada (3) - Genome BC - Strategy for Genomics in the Health Sector in British Columbia, Genome Canada, Genome Canada National Initiative for the Clinical Implementation of Precision Health

Europe (2) - Shaping Europe’s Vision for Personalised Medicine-Strategic Research and Innovation Agenda (SRIA), Ubiquitous Pharmacogenomics (U-PGx)

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

France (1) - French Plan for Genomic Medicine 2025 

Qatar (1) - Qatar Genome Programme (QGP)

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

Thailand (1) - Genomis Thailand

United Kingdom (1) - Generation Genome- Annual Report of the Chief Medical Officer 2016

USA (1) - The 2011 NHGRI strategic plan - Charting a course for genomic medicine from base pairs to bedside