Ministry Reports

Report of The Provincial Advisory Committee on New Predictive Genetic Technologies,

November 2001

---

Executive Summary

During the past decade, science has made enormous advances in understanding the human genome. Sophisticated technologies have permitted human gene mapping on an unprecedented level. The increasing ability to test for genetic predisposition to disease has resulted in optimism that genetic predictive testing will help improve treatments and health care delivery. An understanding of the genetic basis of disease is expected to help everyone better understand disease processes.

Public polls show that people in Ontario are interested in learning more about the new genetic sciences and what they will mean to them. Before embracing these new technologies, governments need to carefully examine their value and their consequences for patient outcomes, legal systems and society.

The Committee

In April 2000, the Ministry of Health and Long-Term Care (MOHLTC) established a Provincial Advisory Committee on New Predictive Genetic Technologies to help Ontario navigate the new frontier of human genetic medicine and science.

The mandate of the Advisory Committee was to develop a policy framework for introducing new genetic predictive testing and services into Ontario's health care system. This framework would help ensure that the provincial health system promotes wellness and improves health outcomes in advance of the appearance of disease.

The Committee would also develop guidelines, principles, broad criteria and advice to guide decisions on how new genetic services should be incorporated into the province's health care system. See Appendix A for Terms of Reference for the Committee.

The multidisciplinary Committee was made up of :

• geneticists,
• a genetic counsellor,
• family physicians,
• genetic researchers,
• laboratory directors,
• academics in law, ethics and medicine, educators,
• a clinical epidemiologist,
• an expert in psychosocial issues, and
• representatives from the Canadian Cancer Society, the Heart and Stroke Foundation, the Huntington Society of Canada, the Ontario Association of Medical Laboratories, the Ontario College of Family Physicians, the Ontario Hospital Association, and the Ministry of Health and Long-Term Care.

The work of the Committee was divided among six areas :

• education,
• evaluation,
• clinical practice,
• psychosocial issues,
• laboratory practice, and
• legal and ethical issues

The sub-committees drew on a broad base of provincial expertise in each of these areas. Membership of the Provincial Advisory Committee and its sub-committees appear in Appendix B.

The Report

This report will help MOHLTC understand recent advances in genetic science. The report also examines the current state of genetic services in Ontario, and anticipates numerous impacts that genetic medicine and technology will have on patients, the physician-patient relationship, the health care system, and society.

Although the effects of genetic science on clinical practice, health services and individuals are still to be seen, the rapid increase in genetic technology requires responsive strategies and an objective assessment of the immediate and future scope of these advances.

The report directs its recommendations to the provincial and federal governments and to non-governmental bodies who can ensure that people in Ontario benefit from genetic science.

Impacts of New Genetic Technology

On Health Systems
Differences in the reliability, accuracy and predictive power of new genetic technologies, as well as clinical and psychosocial impacts, mean that each new technology must be evaluated for its usefulness and impact within a public health system.

The complex nature of each test procedure requires strict laboratory protocols to ensure the test results are accurate, meaningful and can be clearly communicated from physician to patient.

On Clinical Practice
Genetic tests vary significantly in the degree of certainty of developing disease, the risk and reliability associated with the test, the type of treatment required, and the complexity of their management. As the number and type of genetic tests increases, family physicians will encounter increasing indications for these tests and then will need to interpret the results.

Increasing genetic tests will also increase the workload of medical geneticists, other medical specialists and genetic counsellors. New approaches to clinical practice will need to be developed and in order to be fully effective, physicians will need to acquire new knowledge and integrate skills from different fields.

On the Patient
The probabilities and risks of genetic information are difficult concepts to understand and to base decisions on. Careful attention must be paid not only to the clinical information provided to the patient but also to the psychosocial effects which the testing may have on the individual and their families.

Unlike other forms of medical diagnosis, genetic predictive testing spans generations. Testing individuals also tests other family members, including offspring and their offspring. The test for Huntington Disease, for example, is predictive for the individual tested and also for future generations.

On the Public
Advances in biomedical science and new technologies offer an array of new health and reproductive choices. To make informed choices, the public needs reliable information about what is medically necessary and ethically appropriate.

Challenges of New Genetic Technology

Because risk is often determined by complex interactions with other genes and with environmental factors, interpreting the risk or probability of conditions through genetic testing will require a unique educational strategy.

Weighing the costs of providing a test and all the consequent lifestyle changes, surveillance programs, potential psychological, family, ethical and legal impacts against reliance on other sources of information and traditional clinical practices for dealing with disease is a concern. There is a need to guard against controlling disease through the new genetic technologies at the expense of other, known approaches to disease. Other approaches to disease control will need to be considered, including lifestyle changes that apply to the entire population, irrespective of genetic predisposition.

New testing technologies where one small blood or tissue sample can be tested simultaneously for many different disorders will open up new possibilities not previously contemplated.

Predictive genetic testing opens legal and ethical dilemmas that require guidance and decisions based on shared social values in the context of a public debate. It also raises issues that go beyond the provincial realm to areas of federal and international regulation.

Overview of the Recommendations

The recommendations of the Advisory Committee appear in section 3 of this report.

A Permanent Advisory Committee on Genetics
The initial recommendation is that Ontario establish a permanent and more broadly mandated Advisory Committee on Genetics :

• to evaluate new genetic tests for service delivery,
• to determine resource needs and health care service approaches as genetic issues evolve,
• to facilitate the implementation of new genetic tests, and
• to provide advice on educational, legal, and ethical issues relating to genetic testing.

The Need for Evaluation
The recommendations reiterate the importance of developing an evaluation process that builds on the template presented in this report. Before becoming insured services, all new tests should be evaluated for :

• technical accuracy,
• clinical effectiveness,
• usefulness to tested individuals,
• adverse and additional effects,
• expansion potential and cost,
• ethical/legal implications, and
• resource implications.

Genetic Service Issues
Since genetic testing often produces complex results, testing must be part of broader integrated multidisciplinary genetic services that incorporate genetic assessment and counselling, quality testing, psychosocial support and follow-up services, including surveillance, prevention and treatment. Every effort should be made to integrate genetic service into current health care.

Because of the potential growth in the number and volume of genetic tests and their accompanying costs and consequences over the coming decades, the Committee has also made recommendations to increase recruitment and training capacity for genetic service health care providers. Each aspect of genetic services should have quality management guidelines in place.

Ethical and Legal Issues
Ethical and legal issues permeate every phase of predictive genetic testing. Recommendations emphasize the need :

• to ensure privacy and confidentiality and protect patients from discrimination and stigmatization,
• for fully informed consent for genetic testing,
• to ensure quality management in laboratory testing, and
• for governments and regulatory bodies to examine and take steps in the areas of patents, commercial use and direct marketing of genetic testing.

Educational Program
The Advisory Committee recommended developing and promoting a genetics educational program for everyone in Ontario including health professionals and decision-makers to meet public and professional needs. They also recommended developing a specific education program for each new predictive genetic test approved as an insured service.

Until recently, much of the practice of genetics involved diagnosing rare inherited disorders, estimating risk for family members, and providing prenatal diagnosis. There was little need for most health care providers to have any more than a rudimentary knowledge of genetics. Now, there is an urgent need for the Ministries of Education and of Colleges and Universities to review the curricula of secondary and post-secondary schools and incorporate core genetic issues.

Moving Forward
Governments, citizens and scientists are attempting to understand the benefits and the limitations of genetics. This report attempts to assist Ontario in that endeavour with confident caution. The monitoring of developments in genetics and the resulting genetic clinical practice is an ongoing task for all governments.

The full report may be downloaded from the link below.