Educational Tools Which Relate to Adult-Onset Disorders for Which Genetic Testing is Available

Final Report

Prepared for Health Canada by PICEPS Consultants, Inc.,

August 15, 2001

Educational Tools Which Relate to Adult-Onset Disorders
For Which Genetic Testing Is Available: Final Report
87 Pages - (209 KB) in PDF Format

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Table of Contents

Executive Summary

A. Project Background

B. Project Goal & Key Tasks

C. Project Design
1. Literature Review
2. Web Site Review
3. Key Informant Interviews
4. Survey

D. Results
Overview of Educational Tools
Summary of Findings - Key Task Areas
Summary of Key Themes and Issues

Appendix A: Table 1. Educational Tools for Patients
Appendix B: Table 2. Educational Tools for Physicians
Appendix C: Table 3. Web-based Tools
Appendix D: Relevant Literature on Educational Tools for Genetic Testing
Appendix E: Key Informant Package
Appendix F: Email Survey
Appendix G: Members of Canadian Association of Genetic Counsellors who Practice in Cancer Genetics or Adult Onset Disorders
Appendix H: Genetic Risk Assessment Centres
Appendix I: Disease-Specific Organizations & Associations
Appendix J: Professional Genetics Associations Contacted
Appendix K: Cancer Genetics Clinics in Canada

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Executive Summary

Under contract with Health Canada, PICEPS Consultants, Inc. assisted the Working Group on Public and Professional Educational Requirements Related to Genetic Testing of Late Onset Disease by identifying a representative sample of tools used to facilitate the education of patients and primary care providers regarding adult onset disorders for which genetic testing is available.

Key informant interviews, identification and review of the published literature, an Internet search, and surveys of publication first authors and organizations constituted the data collection protocol for this project. The Working Group approved the emphasis to identify educational tools that have been formally evaluated, as well as innovative approaches to educate patients and primary care providers.

The literature review yielded over 170 articles that included descriptions and/or evaluations of educational tools, information aids, multi-media tools, web-based instruction, and brochures. These tools covered areas such as genetic counselling, risk assessment, risk communication, family history taking, and issues concerning the implementation of educational tools in primary practice.

A total of 15 key informant interviews were conducted with individuals from Canada, the United States and the United Kingdom. Key informant interviews were conducted to identify educational tools currently in use or plans to develop tools, barriers associated with the implementation of such tools, and evaluation indicators.

Some 301 organizations and authors of published articles were surveyed to identify any other tools, to obtain copies of tools and/or evaluation reports, and to identify future plans for the development of tools. Email surveys were returned by 66 individuals, 30 of which provided specific information about genetic testing educational tools.

Finally, over 300 web sites pertaining to risk communication, risk assessment, genetic counselling, were identified, and each of these was reviewed to determine: (1), presence of tools or programs to educate patients and/or primary care providers; (2), information regarding the educational tools; (3), access to this information.

Summary of Results

It is extremely challenging to identify educational tools for primary care practitioners and patients regarding genetic testing for adult onset disorders that have gained widespread dissemination and acceptance. We identified 102 genetic testing educational tools that were designed to educate primary care practitioners, patients or both. These tools varied in their scope and their formats (CD, video, paper, audiocassette, Internet-based). Nineteen tools were identified for use with patients (14 of which focus specifically on issues related to testing for breast or ovarian cancer risk); seventeen tools were for use with primary care practitioners (7 of which focus specifically on breast or ovarian cancer risk). The 65 remaining tools were web based with either a specific audience focus or a broad audience application (e.g., public, patients, health care providers), and were disease specific. Of the tools we identified, we determined that most were developed locally, but only a few have been evaluated formally (possibly due to resource constraints).

Qualitative and/or quantitative evaluation studies have been done on 13 of the 36 educational tools that were not Internet-based. Evaluation studies ranged from informal, in-house evaluations (focusing on end-user satisfaction or ease of implementation) to more formal evaluations that have been published in the peer-reviewed scientific journals (or are in process of being published). Outcome measures have included the impact of the tool on: i) factors influencing patient decision-making (e.g. knowledge of genetics and genetic risk, decision uncertainty, screening attitudes, and risk perception and comprehension); ii) factors influencing physician uptake and use (e.g. physician satisfaction, perception of how tool worked in practice); iii) appropriate decision-making (e.g. referrals) among physicians; and iv) time taken to decisionmaking for physicians. Behaviour change (e.g., changes in screening behaviour, contacting relatives) are also important indicators to measure the efficacy of tools, but there appears to be little evidence that these indicators have been used as outcome measures in the evaluation studies conducted to date.

Summary of Key Themes and Issues

The following points are offered as key issues and considerations for the Working Group on Public and Professional Educational Requirements Related to Genetic Testing of Late Onset Disease as they discuss further any plans for the development, implementation and/or evaluation of educational tools with regard to genetic testing for late onset disorders.

1. Many key informants and survey respondents expressed interest in being made aware of the long-term plans that the Health Canada Working Group has with regard to the development, implementation and/or evaluation of educational tools for genetic testing for late onset disorders.

2. A “gold standard” genetic testing educational tool for either primary care practitioners or patients does not exist.

3. Most educational tools are developed locally; much of the work does not appear in the published, peer-reviewed literature and/or does not have widespread dissemination.

4. There are very few and limited evaluation studies to assess the design, implementation, efficacy or effectiveness of genetic testing educational tools.

5. Family history taking tools are often developed for research purposes (e.g. in genetic testing clinics) and not for educational purposes. The Working Group should consider how such tools might differ and/or overlap with regard to their respective purposes, their design and their implementation.

6. In comparison to other disease sites, there appears to be a much greater number of educational tools that have been developed for breast/ovarian cancer risk. This is also supported by survey responses, the literature review, the web site review, and the key informant interviews.

7. In addition to innovations in the development of tools per se, that there are also innovative approaches to genetics education more broadly. One such example is the Community Genetics and Ethics Project (CGEP) which takes a community development approach to the education of primary care practitioners and the public in general. This approach involves 3 phases that include i) intensive retreats for professional groups (clergy, policy, physicians, medical students); ii) recruitment of more professionals using phase 1 participants as gatekeepers, and iii) community forums. This project has been evaluated using pre- and post-test comparisons of knowledge. Focus groups are also conducted 6 months after the session to assess what the participants have done with their information.

8. There appears to be a need for carefully designed, easy-to-use educational tools for primary care practitioners that take into consideration their non-expert level of knowledge about genetics, the time required to train physicians, and the ease with which the tool can be implemented into a primary care setting. The tools should provide educational information about genetics, regardless of the disease site.

9. As primary care becomes a more common point of entry by which people are referred to genetic testing, in addition to knowledge about human genetics, physicians need to be aware of the types of concerns and questions their patients may have (e.g., psychosocial issues).

10. Educational efforts oriented towards physicians need to take into account both physicians in-training and practicing physicians. The development of tools for primary care practitioners needs to be accompanied by a commitment to genetics education in medical schools. Continuing medical and nursing education may comprise promising avenues for educating primary care practitioners about issues related to genetic testing for late onset disorders. This approach may facilitate appropriate referrals for high-risk cases, and may help to ease any discomfort of primary care practitioners in discussing issues related to genetic testing for late onset disorders.

11. The successful development of educational tools for primary care providers requires, in part, clarification of the role that is appropriate for the primary care provider in the provision of patient advice concerning genetic testing for late onset disorders.

12. It is challenging to use existing tools for different populations (including disease-site characteristics and patient/public demographic criteria such as SES, age, location).

13. A number of position papers and resource documents were identified as a result of the key informant interviews, the surveys and the web site reviews. These documents provide insight into various issues related to genetic testing for late onset disorders, and some are an additional resource for the identification of web-based educational tools.

14. There is an increasing number of private and public initiatives involved in the development, design and/or implementation of tools to assist in the education of primary care practitioners and patients about genetic testing for late onset disorders.

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Educational Tools Which Relate to Adult-Onset Disorders
For Which Genetic Testing Is Available: Final Report
87 Pages - (209 KB) in PDF Format