APPENDIX 1 — POLICY DOCUMENTS REFERENCE MATERIAL
The following is a selection of policy documents from various jurisdictions, including Canada, the United Kingdom,
the United State, Australia, and New Zealand, that make specific recommendations related to resource allocation for
predictive genetic testing, or serve as context setting documents for resource allocation for new medical technologies.
We have not included technology assessments for specific tests (e.g. CCOHTA, “A Clinical Systematic Review of
BRCA1 and BRCA2 Genetic Testing for Breast and Ovarian Cancers” (2006) 20 Technology Overview 1). We have
also not included a comprehensive list of relevant literature, e.g.:
 Burke, Wylie and Nancy Press, “Genetics as a Tool to Improve Cancer Outcomes: Ethics and Policy” (2006) 6
Nature Reviews Cancer 476.
 Gail H. Javitt, “Policy Implications of Genetics Testing: Not Just for Geneticists Anymore” (2006) Advances in
Chronic Kidney Disease 13 (2): 178-182.
 Brenda Wilson, “The challenge of Developing Evidence-based Genetics Health care in Practice” (2006) 5
Familial Cancer 55.
 Mita Giacomini, Fiona Miller and George Browman, “Confronting the ‘Gray Zones’ of Technology
Assessment: Evaluating Genetic Testing Services for Public Insurance Coverage in Canada”” (2003) 19:2
International Journal of Technology Assessment in Health Care 301.
Australia
Medical Services Advisory Committee, Funding for New Medical Technologies and Procedures: Application and
Assessment Guidelines, Department of Health and Aging, Canberra 2005, online:
http://www.msac.gov.au/internet/msac/publishing.nsf/Content/C1F4569D79E542FACA257161001F1389/$File/g
uidelines.pdf
 Describes the process for case-by-case assessment of new medial technologies, including the primary criteria of
clinical need, safety, effectiveness and cost-effectiveness.
Canada
Health Technology Assessment Task Group on behalf of the Federal/ Provincial/ Territorial Advisory Committee on
Information and Emerging Technologies, Health Technology Strategy 1.0, Final Report (June 2004), online:
http://www.hc-sc.gc.ca/hcs-sss/alt_formats/iacb-dgiac/pdf/pubs/2004-tech-strateg/2004-tech-strateg_e.pdf

Explores expansion beyond traditional notions of HTA in Canada for emerging technologies —clinical
effectiveness, impact on providers, service improvement to patients, economic impact— to include the
technology life cycle and the health system’s major stakeholders.
Ontario Ministry of Health and Long Term Care, Predictive Genetic Tests and Health Care Costs: Final Report
Prepared for the Ontario Ministry of Health and Long Term Care (2002), online:
http://www.health.gov.on.ca/english/public/pub/ministry_reports/geneticsrep02/chepa_rep.pdf
 Examines the potential effect of new predictive genetic test services on health care costs. Offers a general
framework that identifies key factors determining the cost impact of a predictive genetic test service and
suggests how the choices of health system decision makers influence costs.
Ontario Provincial Advisory Committee on New Predictive Genetic Technologies, Genetic Services in Ontario:
Mapping the Future, Ontario Ministry of Health and Long Term Care (2001), online:
http://www.health.gov.on.ca./english/public/pub/ministry_reports/geneticsrep01/genetic_report.pdf
 Examines responsive strategies and an objective assessment of the immediate and future scope of these
advances. The evaluation of predictive genetic tests must take many criteria into consideration, including:
technical accuracy (analytical validity), clinical effectiveness (clinical validity), usefulness to tested
individuals (clinical utility), adverse and additional effects, and expansion potential and cost (social utility).
New Zealand
National Health Committee, National Advisory Committee on Health and Disability, District Health Board Decisionmaking about New Health Interventions: A Background Paper (2006), online:
http://www.nhc.govt.nz/publications/PDFs/dhb-decisions-new-health-background-paper.pdf

A review of the criteria for new technology assessments out in the 2002 report (below) with the finding that
only clinical effectiveness and cost were being considered in hospital decisions.
National Health Committee, New Technology Assessment in New Zealand, (2002), online:
http://www.nhc.govt.nz/publications/PDFs/newtechnologyassessment.pdf

Proposed that the five prioritisation principles would be suitable to guide decisions on whether to
adopt a new technology: clinical effectiveness, cost, equity, Māori health, and acceptability.
United Kingdom
Lord Carter, Report on the Review of NHS Pathology Services in England (2006), online:
http://www.dh.gov.uk/PublicationsAndStatistics/Publications/PublicationsPolicyAndGuidance/PublicationsPolicy
AndGuidanceArticle/fs/en?CONTENT_ID=4137606&chk=J4t5ZX

Its purpose was “To advise Ministers, in the context of current resource constraints, on the timeliness,
reliability, capacity and efficiency of current pathology services in England, benchmarked against international
standards and the feasibility of and benefits arising from wide-scale service reconfiguration, innovation and
modernisation and involvement of the independent sector.”
UK Genetic Testing Network, Framework for Delivering the UK Genetic Testing Network (2006), online:
http://www.genetictestingnetwork.org.uk/gtn/UKGTN-information/framework.html

Examines the “gene dossier” approach to the review of new predictive genetic tests, which requires
laboratories and users of the service, who wish a test to be considered for adoption to provide information on
information on disease prevalence, test characteristics, utility and validity of the test.
Parliamentary Office of Science and Technology, “NHS Genetic Testing,” (2004) 227 postnote, online:
http://www.parliament.uk/post/home.htm
 Describes the movement from ad hoc adoption of genetic tests in to clinical use, and the trend towards
formalization of the assessment process for the UK Genetic Testing Network.
National Translational Cancer Research Network, “Introducing Molecular Diagnostic Tests to the NHS: Mapping the
Process,” Meeting Report (2005), online: http://www.ntrac.org.uk/News/events/MDT_108/FinalReport.pdf
NHS, UK Genetic Testing Network Steering Group, Procedures and Criteria for the Evaluation of Genetic Tests for
NHS Service, (2003), http://www.genetictestingnetwork.org.uk/gtn/UKGTNinformation/dossier/dossier/mainColumnParagraphs/00/document/BACKGROUND%20INFORMATION,%20GE
NE%20DOSSIER.pdf
 An explanation of the gene dossier approach for placing all relevant information in front of the evaluation
panel, emphasizing the seriousness of the condition, the prevalence of the condition, the purpose of the test,
the complexity of the test, the context in which the test is to be used, the characteristics of the test – its
clinical sensitivity, specificity and predictive value, the utility of the test, ethical, legal and social
considerations, and the cost of the test.
NHS Executive and the Human Genetics Commission, Laboratory Services for Genetics, Report of an Expert Working
Group (2000), online: http://www.dh.gov.uk/assetRoot/04/07/82/29/04078229.pdf
 Explores the development of a mechanism for the evaluation of proposed genetic tests, noting the assessment
process must include analytical validity, clinical utility, clinical validity and cost effectiveness.
United States
Secretary’s Advisory Committee on Genetic Testing, National Institute of Health, Enhancing the Oversight of Genetic
Tests: Recommendations of the SACGT (2000), online:
http://www4.od.nih.gov/oba/sacgt/reports/oversight_report.pdf

SACGT identified four criteria— analytical validity, clinical validity, clinical utility, and social
consequences— that can be used to assess the benefits and risks of a genetic test. The importance of these
criteria was confirmed in the public comment process. Tests might be organized into categories such as “high
risk” and “low risk.” while acknowledging that this would not be a simple or straightforward task.
Categorization would depend on the consideration of a combination of factors, including test characteristics,
availability of safe and effective treatments, and the social consequences of a diagnosis or identification of
risk status.
National Office of Public Health Genomics, Centers for Disease Control and Prevention, ACCE Model System for
Collecting, Analyzing & Disseminating Information on Genetic Tests (2000), online:
http://www.cdc.gov/genomics/gtesting/ACCE/fbr.htm

Sets the framework for the evaluation of different disorders based on the components of analytical validity,
clinical validity, clinical utility, and related ethical/legal/social issues. The key goal of this effort was to
facilitate the appropriate transition of genetic tests from investigational settings to use in clinical and public
health practice.
National Human Genome Research Institute, Promoting Safe and Effective Genetic Testing in the United States: Final
Report of the Task force on Genetic Testing (1997), online: http://www.genome.gov/10002393#SAFETY
 Called for the creation of the SACGT, above, noting providers and consumers cannot make a fully informed
decision about whether or not to use genetic tests unless their benefits and risks have been assessed.
Other International Resources
European Commission, 25 Recommendations on the Ethical, Legal and Social Implications of Genetic Testing (2004),
online: http://ec.europa.eu/research/conferences/2004/genetic/pdf/recommendations_en.pdf.
Ingo Haertel, Phil Jackson and Barbara Slater, “Policy Decision Making in the Field of Biomedicine,” Health
Technologies and Decision Making, The OECD Health Project (2005).
 Emphasizes a need to move from static to dynamic assessments, noting a key objective is to generate real-life
evidence by which health planers, health funders and clinicians’ decisions about a certain technology can be
justified by long-term clinical evidence, rather than a focus on evidence only at the end of the R & D cycle.
OECD, OECD Workshop Vienna 2000 on Genetic Testing: Policy Issues for the New Millennium (2000).