Institute of Genetics (IG)

INSTITUTE OF GENETICS &
INSTITUTE OF HEALTH SERVICES AND POLICY RESEARCH
CANADIAN INSTITUTES OF HEALTH RESEARCH

Health Services for Genetic Disease Workshop

REPORT OF THE PROCEEDINGS
September 23-24, 2001

WELCOME AND INTRODUCTION

The Health Services for Genetics Disease Workshop was sponsored by the CIHR Institute of Genetics and Institute of Health Services and Policy Research. This two-day strategic planning workshop was held in Toronto at the Royal Meridian King Edward Hotel, on September 23 - 24, 2001. Approximately 57 participants with diverse backgrounds and involvement in genetics and health services research were invited to attend the workshop. Participants were selected to ensure a broad representation from all the sectors with an interest in health services genetics research, including clinical and medical genetics, social science, health services and policy researchers, as well as, representatives from voluntary organizations, while also taking into account geographical representation.

Rod McInnes, Scientific Director, Institute of Genetics (IG), welcomed the participants and provided a brief update on the CIHR and outlined the projected goals of the Institute's program of research. Tim Caulfield, member of the Institute Advisory Board for the Institute of Health Services and Policy Research (IHSPR), followed up by noting the enthusiasm of this Institute to collaborate with the IG. He commented on the opportunities presented by major initiatives such as the Human Genome Project, to have an impact on health services and health policy, as well as having a major impact on the future of medicine.

The purpose of this workshop was to provide the unprecedented opportunity for the Institutes and representatives from the field of genetics and health services and policy research to collaborate with regard to shaping the future of Clinical Genetics research in Canada. The objectives of the workshop were:

• To gain a better understanding of the current state of research in Health Services for Genetics;
• To facilitate collaboration and networking between Health Services and Genetics researchers;
• To identify opportunities, mechanisms, strategies and priorities that will increase the productivity and impact of Health Services Research for Genetic Disease;
• To identify potential challenges for greater productivity in this area;
• To formulate research questions to be answered.

The workshop was designed to provide a) a brief overview of the current state of genetics health services research. b) a round table discussion on the strengths, weaknesses, opportunities and challenges to the field, c) presentations on the application of health services and policy research to genetics, as well as the ethical challenges for genetic researchers, and d) breakout sessions to examine and discuss the following series of questions related to the areas of genetic services:

• What is the vision or what are the major goals for research in your area?
• What are the principles that should guide research in this area?
• What are the key research questions to be answered in your area?
• What are the deliverables of a national agenda in health services research in genetics?
• What are the infrastructure requirements?
• What are the training and development needs?
• Where are the major opportunities for partnership and collaboration?

OVERVIEW OF FINDINGS IN GENETICS HEALTH SERVICES RESEARCH

Five speakers delivered presentations providing an overview of the current state of genetic health services research with a focus on the findings in the following areas: a) the outcomes and impacts of genetic services on patients and families, b) testing and screening, c) patient databases and linkages, and d) the integration of genetics into clinical practice.

The presentation on outcomes and impacts highlighted findings on the impacts of various scenarios of communication of genetic information to patients and families, including attitudes to testing, barriers and benefits, discrimination, services issues and economics. The presentation on testing and screening, emphasized current issues in this domain and provided a clear differentiation of these two processes. Key challenges in this area include susceptibility testing, the transfer of research to the clinical lab, the legal framework, and the accountability and responsibility for genetic screening and testing. An overview of a number of critical issues related to patient databases and linkages highlighted approaches to assessing health care, the type of databases which can and should be used, issues regarding record linkage, patient-based research, and genetic patient research databases. The final presentation focused on the integration of genetics into primary care. It was pointed out that there is an expanding role in genetics for primary care physicians in a number of areas including, risk assessment, and communication of risk. Opportunities for research were identified in the outcomes of educational, psychosocial, and workload research, as well as in the development and evaluation of innovative models of service delivery.

HEALTH SERVICES AND POLICY RESEARCH AND THE LINK WITH GENETICS

The Health services research is "research which addresses the need for health systems, technologies and tools to promote health, prevent disease and deliver health care effectively for all populations". Taking this into account, and in order to facilitate exploring potential opportunities for health services and policy research, a presentation was given to help define and clarify the characteristics of this type of research and its current application to genetics. It was concluded that there is a requirement for clinical science, population health and health services research in order to understand how best to use the results of basic science to improve the health of individuals and populations.

ETHICAL CHALLENGES FOR GENETIC RESEARCH

Current and future ethical challenges that face genetic researchers was presented to the group and the following requirements for clinical ethical research were identified: social or scientific value, scientific validity, fair subject selection, favorable risk-benefit ratio, independent review, informed consent and respect for potential and enrolled subjects.

GENETIC HEALTH SERVICES

Workshop participants met in four small groups to discuss a number of questions related to the areas of genetic services. The following emerging priorities resulted from those discussions:

• Outcomes research - need evidence of positive impacts of genetic testing, screening, counseling and other interventions;
• Establish national standards and guidelines for partnerships;
• Capacity building - strategies to retain and attract diverse group of researchers into the field, including new investigators and HSRG leaders;
• Education of policy makers, granting agencies, providers and the public. Genetics should be positioned as a priority in health care;
• Develop communications strategy for researchers and key stakeholders;
• Strengthen the funding base and infrastructure, including databases to establish an inventory of research activity - who's doing what, and where is it being performed;
• Promote partnerships and collaboration - develop an alliance strategy and prioritize key partnerships;
• Establish a long-term vision - a view to what will be happening 10 years from now.

OPPORTUNITIES ARISING FROM THE WORKSHOP

Upon closer examination of the priority items emerging in the field, discussions revealed a strong bias towards building and investing in infrastructure to develop Health Services Research in genetics. A strong preference was voiced with regards to supporting a "Big Bang" type study on the impacts and outcomes of genetic health services. In this way, the impact and productivity of HSR in genetics could be increased amongst researchers, policy makers and the public.

The "Big Bang Study" would feature a single or multiple disease approach, be potentially national in scope, multidisciplinary and bring to light multiple outcomes. From a health services perspective, the challenge is to prove whether the field of genetics has a positive impact on health outcomes at the population level. A single "big bang" project could be designed to answer such questions. The issue was raised, however, regarding the associated risk that a single large project may not produce the anticipated results and the alternative to undertake a series of systematic reviews to bring together all of the existing research in the field, and identify key issues for further study was suggested.

Additional concerns were voiced concerning the likelihood that a multiple disease approach could be taken. Diversity in the field of genetics led to a dilemma in selecting one disease by precluding the ability to address some important questions in other areas. For example, the issues in delivering prenatal screening programs are very different from those in testing for breast cancer, as are the populations being affected.

In short, the group proposed a multi-faceted program of research, focusing on either a single disease or multiple diseases that would include relevant interventions such as screening, communications, and treatments that potentially have an impact on health outcomes at the population level. The project(s) would include an environmental scan, research questions around all the associated legal, ethical and policy issues, development of decision aids, and the examination of the quality of life at both the level of the patient and the family.

CONCLUSIONS AND RECOMMENDATIONS

Taking into account the previous discussions, the final session was devoted to firming up the priorities for health services and policy research in genetics and concluded with the following recommendations:

1. Such a model has the potential to highlight a variety of genetic research themes, and has significant potential for multiple partnerships;
2. A need to undertake an environmental scan/inventory of who is doing research in these areas and what it is that they are doing;
3. A need to identify the key players in each area and then bring them together. Mechanisms include sponsorship by the IG of proposal development workshops or formulation grants. Both mechanisms can be useful for capacity building.
4. Given this approach, ensure the development of appropriate peer review panels.

The workshop concluded with Rod McInnes thanking all the participants for their enthusiasm and their extraordinarily useful contributions to advancing health services research in genetics. All the participants appreciated the opportunity to meet and discuss the issues facing clinical genetics research, and found the workshop to be tremendously useful from the perspective of establishing strategic priorities to expand the productivity and impact of health services research for genetic disease.