EASAC-FEAM project on Direct-to-Consumer Genetic Testing

1. Introduction 

Developments in genetics facilitate the predictive screening of disease. But tests for complex disorders, of questionable value, are being offered direct to the public through the internet. This project, the first collaboration between the academies’ networks EASAC and FEAM, aims to inform policy-makers and the public about the balance between encouraging responsible testing and protecting against unsound testing. Focusing on the EU, the project involves and strengthens those European academies with fewer policy advisory activities. As the policy issues associated with expanding genetic testing have increasing relevance for developing countries, the project will also provide a starting point for future global cooperation between academies. 

2. EASAC and FEAM

EASAC (www.easac.eu) – the European Academies Science Advisory Council - was formed in 2001 by the national science academies of the EU Member States to enable them to collaborate with each other in giving advice to European policy-makers. EASAC covers all scientific and technical disciplines and has major Programmes in Energy, Environment and the Biosciences. Recent projects in the Biosciences have covered a range of topics, for example in Synthetic Biology, Nanosafety, and Infectious Diseases.  

FEAM (www.feam.eu.com) – the Federation of the European Academies of Medicine – was formed in 1993 with the objective of promoting cooperation between the national academies of medicine and of extending to the political and administrative authorities of the EU the advisory role that the academies exercise in their own countries on matters concerning medicine and public health. Recent Statements have described FEAM work on the EU Clinical Trials directive and on Mental Health policy issues.  

3. Summary of proposal approved for funding by IAP

Developments in genetic science are leading to an expanding potential for predictive screening of disease. Current methods in public health services enable the specific diagnosis of treatable diseases including cancers. But other tests, of questionable value, are being offered for complex disorders where interpretation of the result is more challenging. Tests are being offered through internet-based companies selling direct-to-consumer (DTC) and this provision is anticipated to grow rapidly world-wide.

European policy-makers and the public need to be informed about the opportunities, scientific uncertainties and risks of predictive genetic screening. The project goal is to enable academies to communicate about the policy needs to achieve a good balance between the increased use of responsible testing and protection against unsound screening; in particular, to form a view on developments in DTC genetic tests. This project focuses on issues for the policy-maker and public, extending analysis and discussion beyond the professional genetics community and aims to build relationships between national and EU levels and to strengthen the smaller academy policy advisory capacities. Outputs will also be a resource to stimulate subsequent global evaluation and discussion.

The scope of the project will include:

(i) Clarification of likely scientific developments and current approaches to DTC genetic testing – collaboration among EU academies to build national analysis and communication.

(ii) Assessing literature on EU-wide scale on public attitudes to testing, including DTC genetic testing,  and identifying present gaps in communication to the public about new technologies in consumer genomics and implications for personal health.

(iii) Building academy competences in evaluating policy needs for support and governance of research and innovation between the national and EU levels.

(iv) Assessing the option for coordinated registries to provide validated information on tests and implications for different populations.

(v) Generating recommendations on international options for Regulatory Agency action on direct access test provision. Clarifying what control is possible in the internet age.

 4. Outline work plan

Phase 1 January-June 2011 – Project initiation and preparation of scientific framework:

(i) Preparation of detailed project plan and identification of EU academy contacts by project secretariat in liaison with EASAC and FEAM offices.

(ii) Interdisciplinary Working Group established by nomination of experts from academies of EASAC and FEAM.

(iii) First Working Group meeting to refine work plans and issue open call for evidence (published on EASAC, FEAM and academy websites). Iterative discussion with the academies to assess their national policy needs and identify their key policy-maker contacts. Scoping of scientific, regulatory and consumer dimensions for the project outputs.

(iv) FEAM scientific session, “Genetic diagnostics and personalized medicine” as part of FEAM annual meeting in Rome (6-7 May 2011): key presentations relevant to consideration of DTC genetic tests by Professors Propping, Zimmern and Brand.

(v) Contacts made to take account of previous relevant work by others (in particular, Leopoldina Working Group, European Society of Human Genetics, UK Human Genetics Commission and Regulatory Agency initiatives, see subsequent sections on background developments).

(vi) Contact initiated with Academies outside EU to alert them to this project and explore their interest in cooperating in future work.

Phase 2 July-December 2011 – Evaluation of evidence and identification of policy issues:

(i) Further (2) meetings of Working Group and consideration of other evidence including exploration of current variation in experience across EU. Continuing discussion between Working Group and the academies to evaluate the current situation and confirm policy needs.

(ii) Initial Working Group drafting of project report.

(iii) EASAC-FEAM initiation of contact with EU policy-makers and clarification of options for global extension of work - that is, further discussion with Academies from outside EU to ascertain options for subsequent project application.

Phase 3 January-June 2012 – Completion of recommendations and dissemination:

(i) Final Working Group meeting.

(ii) Working Group completion of project report; discussion by the academies and independent peer review by EASAC-FEAM nominated experts.

(iii) EASAC-FEAM Publication of report, associated media and other communication activities - including provision of material and information as tools to individual academies to enable them to deliver sustained impact and strengthen their national capabilities. This key deliverable is intended to be useful for policy-makers and the public. Publication of material on the websites of the different participating academies from EASAC and FEAM will provide wide and continuing communication (and enhance smaller academy capacity).

(iv) EASAC-FEAM/academy discussion of project findings with EU policy-makers (including European Commission and European Parliament) and exchange of information with the academies on progress made at the EU level.

(v)EASAC-FEAM/academy provision of resource and advice on strategy for global follow-up – clarification of proposed renewed bid to IAP involving academies from countries outside EU.

(vi) EASAC and FEAM identify “success factors” to inform possible future collaborations between the networks.

5. Proposed key areas for Working Group discussion

• Compiling information on current status and expected developments in Member States – attitudes to genetic testing and to DTC provision.
• Identifying relevant key scientific advances in genetic testing for predisposition to disease.
• Identifying relevant key scientific advances in personal genome sequencing for health purposes.
• Discussing implications of advances in science and technology for consumer access to genetic testing for predisposition to disease.
• Reviewing current developments in Regulatory Agency views on DTC genetic tests.
• Clarifying issues for establishing clinical validity, utility, registries of tests etc. Issues for managing provision of information (company advertising etc), for professional training and access to professional support etc.
• Developing recommendations for EU policy-makers (European Commission and European Parliament).
• Considering mechanisms for communicating benefits and risks relating to DTC testing to the general public.
• Exploring potential implications of DTC genetic tests for developing countries.
• Identifying issues for international cooperation in policy development.