A Common Framework of Principles for direct-to-consumer genetic testing services
Page last updated : 4 August 2010
Launch of the Principles - 4 August 2010
On 4 August 2010, the Human Genetics Commission published a Common Framework of Principles for direct-to-consumer genetic testing services.
The Principles
The Principles will promote high standards and consistency in the provision of genetic tests amongst commercial providers at an international level. They will identify areas where individual providers, professional organisations, regulatory bodies, and/or national jurisdictions should have defined measures in place, and the nature of those measures. The Principles are proportionate and will protect the interests of consumers when considering purchasing genetic tests yet they will allow the industry to continue to grow.
The Principles apply to all situations where it is possible for a consumer to purchase a test without prescription by a qualified medical professional, including tests that are ordered directly by a consumer or a non-medical intermediary acting on the consumer’s behalf. As well as genetic tests for health purposes, the Principles cover ‘lifestyle’, nutrigenetic and ancestry tests and tests that provide information about genetic relationships.
The Principles cover all aspects of direct-to-consumer genetic testing services including the marketing of tests, counselling and support, consent, data protection, the laboratory analysis of biological samples and the levels of support that should accompany the genetic test results. In addition, they will place an expectation on the test provider to supply easily understood, accurate, appropriate and adequate information to consumers about genetics and the role of genetics, environmental factor and lifestyle choices in determine health, diseases and other genetic traits. Claims made by test providers in promotional material and on websites, about the clinical validity of tests, will need to be supported by relevant evidence, published in peer reviewed scientific literature and test providers will be expected not to overstate the value or significance of genetic tests.
Development of the Principles
The Principles were developed by an HGC-led international working group including representatives from the direct genetic testing industry, clinical and molecular geneticists, genetic counsellors, experts in regulation and those with experience in offering support to individuals with genetic conditions. HGC Commissioners provided guidance during the development of the Principles.
Working group members
• Dr Frances Flinter (Lead) – Consultant Clinical Geneticist and Caldicott Guardian, Genetics Department, Guy’s and St Thomas’ NHS and Foundation Trust and HGC Commissioner
• Dr Mark Bale, Deputy Director of Health, Science and Bioethics Division, Department of Health
• Professor Julia Black – Department of Law, London School of Economics
• Dr Paul Debenham – Director of Technology and Innovation, LGC and HGC Commissioner
• Dr Rob Elles - Director of Molecular Genetics, National Genetics Reference Laboratory and Regional Molecular Genetics Service, Manchester
• Stuart Hogarth - Research Fellow, Centre for Biomedicine and Society, School of Social Science and Public Policy, Kings College London
• Alastair Kent – Director, Genetic Interest Group and HGC Commissioner
• Professor Ingileif Jónsdóttir- Head of Infectious and Inflammatory Diseases, deCODE genetics, Iceland
• Stephen Moore – General Counsel, Navigenics, California
• Dr Christine Patch - Genetic Counsellor Manager at Guy’s and St Thomas’ NHS Foundation Trust.
• Dr Ron Zimmern – Executive Director, Foundation for Genomics and Population Health
The Consultation
The HGC held a consultation on a draft of the Principles from the 8 September 2009 and to the 6 December 2009.
Responses to the consultation were invited from any individual or organisation with an interest in direct-to-consumer genetic testing.
Click here to download a copy of the consultation document or alternatively if you wish to be sent a copy of the consultation or have any questions please email PrinciplesConsultation@dh.gis.gov.uk or telephone 020 7972 4148.
The working group met on 5 February 2010 to consider responses to the consultation. Click here to read the meeting papers for this meeting.
Click here to read the minutes from the first working group meeting.
Direct genetic testing workshop
The Principles were developed after an international meeting, in London in June 2008, highlighted considerable agreement by stakeholders for the need for common guidelines to address the gap in regulation and to take account of the international market for direct-to-consumer genetic tests. The meeting was attended by regulators, academic and clinical experts and the genetic testing industry. The following topics were discussed at the workshop and these discussions helped determine the development of the Principles:
• Clarification – of which tests will fall under the framework
• Information – a requirement for the public to be provided with adequate, accurate and appropriate information regarding genetic tests available to consumers.
• Clinical validity and utility – the principles will expect test providers to put into the public domain the research into the clinical validity and utility of the tests they provide
• Quality Assurance – the principles will expect that the laboratories which perform these genetic tests to have appropriate quality assurance procedures in place
• Standards – the standards that genetic tests should meet before they are marketed to the public will be outlined in the Principles and these standards may be stratified with different standards being applied to different tests
• Data protection and consent – appropriately informed consent and confidentiality of individuals personal and genetic data will be expected in the principles
• Involvement of a qualified medical practitioner – the requirement for a physician to be involved in some or all of these tests will be included
If you wish to learn more about the work of the HGC in this area you can read the minutes from the Direct Genetic Testing Seminar and our reports Genes Direct (2003) and More Genes Direct (2007). Alternatively, you can contact the HGC Secretariat on 020 7972 4148 or email hgc@dh.gsi.gov.uk