Genetics education and training

23.53 The appropriateness of decisions to order genetic testing or counselling ultimately depends on the training and understanding of the referring practitioner about genetics. Submissions and consultations highlighted concerns that medical practitioners, including some specialists, are not sufficiently knowledgeable about ordering genetic tests, interpreting the results of genetic tests, and providing or facilitating the provision of genetic counselling for patients.^[66]

23.54 The Commonwealth Department of Health and Ageing stated that there is a need to better educate health professionals about the ethical and scientific principles involved in genetic testing and information.^[67] It supported proposals to enhance graduate and postgraduate training in clinical genetics, genetic counselling and related ethical issues and continuing professional development programs for health professionals and genetic health service providers.^[68]

23.55 The Medical Practitioners Board of Victoria submitted that there is clearly a need to better educate health professionals about the ethical principles involved in genetic testing and information, given the rapid developments in this area. The Board noted that many doctors, especially older practitioners, are unlikely to be sufficiently informed in this area.^[69]

23.56 The New South Wales Genetics Service Advisory Committee noted that, without additional training, some medical practitioners may have difficulties in interpreting the results of some complex predictive genetic tests and in providing appropriate counselling and support.^[70] Similarly, the HGSA submitted that there is insufficient understanding in the medical profession, outside specialised genetics services, of the wider implications of genetic testing.^[71]

There is a need to improve health professionals’ understanding of the ethical principles involved in predictive testing of currently healthy individuals for later onset disorders, and of the practical consequences that flow from those principles in terms of information giving, counselling and support.^[72]

23.57 Submissions from genetic support groups also raised questions about the genetics knowledge of medical practitioners in specific contexts.^[73] Thyroid Australia Ltd submitted that:

After dealing with close to 2,000 thyroid patients nationwide, we find that many doctors (particularly general practitioners) quite commonly do not test thyroid patients (especially those suffering from hypothyroidism) for antibodies, and these patients are therefore blissfully unaware of the genetic implications of their conditions and believe that they can be ‘cured’. They are also unaware of the risks other members of their families face in developing autoimmune thyroid conditions or other autoimmune conditions. This, I believe, is a sad state of affairs. We frequently are faced with the dilemma of telling people that their thyroid problems are probably genetic in nature, suggesting to them that they contact their doctors for the necessary antibody tests to verify this. I believe it is not the role of a support group to perform this function, but that it falls to doctors to do so.^[74]

23.58 AGSA had similar concerns and submitted that medical practitioners need to increase their genetics knowledge base.^[75] The results of a member survey conducted by the Neurofibromatosis Association of Australia led it to conclude that

there is a need for the better education of health professionals into the full implications of genetic testing and the information generated by it. This needs to extend to education on the impact on the whole family (including extended family), not just the person being tested.^[76]

23.59 Submissions also noted that medical practitioners may be insufficiently aware of relevant resources available to patients affected by genetic conditions, including genetic counselling, clinical genetics services and genetic support groups.^[77] One submission from a patient noted that following diagnosis by her general practitioner

there was no time for counselling about the implications [of the genetic condition] or how to discuss this with family members, implications re life insurance etc. There was no mention of the State’s Clinical Genetics Service. The GP is very thorough in general and there has been no other cause for complaint at all.^[78]

23.60 The submission from AGSA highlighted the important role of genetic support groups and that more medical practitioners need to be aware of this role.

After diagnosis of a genetic condition, we believe it is important that the family is referred to AGSA or a similar genetic support group. We believe we are the ‘third arm’ of genetic services – which is just as vital. AGSA provides the essential information to families on what to expect – day-to-day, from families coping with the same condition. … AGSA has received feedback from many people who have never been referred to us, and have found out about our services through their own research. AGSA is often asked “where have you been?” and “why has nobody ever told us about you?”.^[79]

23.61 Submissions consistently suggested that the main focus of additional genetics education and training for medical practitioners should be on developing the ability to recognise the complex implications of genetic testing and the consequent need for specialised advice and counselling, rather than on skilling-up medical practitioners to provide genetic counselling services themselves.^[80] For example, Genetic Health Services Victoria stated that:

Whilst it is important to increase genetic education at all levels it is not possible to train all doctors to provide genetic counselling. Doctors should be well informed about the availability of genetic services and how to access them and have the ability to explain carrier states, inheritance patterns, the distinction between diagnostic testing and screening programs and the pros/cons of established screening programs. People considering predictive testing should be referred to Genetic Services.^[81]

Implementing new education and training programs

23.62 In the course of the Inquiry, a broad consensus emerged that the answer to many of the concerns raised by new and future uses of genetic information lies in education. In relation to medical practitioners specifically, the Inquiry received many comments about the need for additional education and training programs relating to clinical genetics and ethics.^[82]

23.63 The issues involved in developing appropriate genetics education and training programs are complex. For example, while some submissions focused on the need for specialised advice and counselling, some genetic conditions can and should be handled by general practitioners. It would be counterproductive to duplicate the present medical establishment by expecting genetic counsellors to deal with all genetic disorders if, as seems likely, a growing number of common conditions come to be identified as having a genetic component. Genetic counsellors cannot be expected to have detailed knowledge of the clinical implications of many genetic conditions; nor can medical practitioners be expected to provide full counselling services. Most genetic counsellors deal with a full range of genetic disorders and there may be a risk of inappropriate counselling because of a lack of knowledge about the clinical condition.^[83]

23.64 Among the approaches to education and training that should be examined are programs to assist medical practitioners in identifying the genetic conditions that should be referred to specialist genetics clinics, and programs by which medical practitioners may enhance their knowledge and skills in genetics and genetic counselling.^[84] The Centre for Genetics Education submitted that it is important to avoid ‘compartmentalisation of genetics in clinical terms’ and that all practitioners need to be educated to apply genetics to their field of speciality.^[85]

23.65 The Department of Health and Ageing submitted that, to address general practitioner education and training needs nationally

it would be necessary to further develop education and training resources for general practitioners to access voluntarily as part of their quality assurance and continuing professional development requirements. An increased emphasis on genetics education in both the undergraduate medical curriculum and in postgraduate training programs would also be required.^[86]

23.66 Professor Nick Saunders and Associate Professor Paul Komesaroff submitted that training of health professionals in ethics, the implications and uses of genetic testing, and genetic counselling, should be an integral part of all undergraduate courses and vocational education programs, and should be an important focus for continuing education programs.^[87]

23.67 The HGSA agreed that ‘the problem of an inadequately skilled workforce’ needs to be addressed by undergraduate and postgraduate education. The HGSA also referred to the need for laboratories to provide interpretation of test results in their reports, as well as the need for consultation between those who order a test and health professionals who can interpret the results properly.^[88]

23.68 In Australia, the bodies responsible for undergraduate medical education include the Australian Medical Council (AMC) and the Committee of Deans of Australian Medical Schools (CDAMS). The functions of the AMC include review and accreditation of courses conducted by medical schools in Australia and New Zealand leading to basic medical degrees.^[89] Sufficient coverage of genetics could be included as a standard for accreditation.

23.69 From 2002, the AMC will be responsible, with the support of the specialist medical colleges, for the accreditation of programs of postgraduate specialist medical education and training, and continuing professional development programs.^[90] In relation to continuing medical education, the Australian Medical Association submitted that:

responsibility for improving the knowledge of medical practitioners in this rapidly expanding area lies with the Colleges. They should be encouraged to give this area high priority in their educational activities.^[91]

23.70 The Committee of Presidents of Medical Colleges (CPMC) provides a forum for interaction between the Colleges, AMC and CDAMS, including on issues concerning educational standards and professional training. The CPMC provides advice to government departments and health ministers on request.

23.71 There was substantial support for the Inquiry’s proposals with regard to enhancing genetics education and training programs.^[92] Submissions noted the importance of emphasising the ethical, legal and social implications of genetics in the development of education and training programs^[93] and of providing mechanisms for community and consumer input.^[94]

23.72 CDAMS highlighted the need for ‘vertical integration’ of programs—that is, the integration of undergraduate medical education with postgraduate and continuing training.^[95] CDAMS also emphasised that its preferred approach to the development of the medical curriculum is to avoid, where possible, adding new stand-alone units or subjects to overcrowded curricula and instead to

design over‑arching frameworks that articulate the essential knowledge, skills, behaviours and attitudes required of students, and which provide a range of options for their integration into pre‑existing curricula structures at each medical school. A curriculum framework should be flexible enough to allow it to be adapted to the particular educational approaches and systems at individual medical schools.^[96]

23.73 The Inquiry has concluded that attention to the further development of genetics education is required across all phases of professional medical education. This conclusion is dictated by the increasing importance of genetics in clinical practice. It also emerges from specific concerns expressed to the Inquiry about the genetics knowledge of medical practitioners and the need for additional education and training programs relating to clinical genetics and ethics. These programs need to be addressed, in an integrated way, to those who are in the process of receiving basic medical education in medical schools, to postgraduates, and to general practitioners and specialists, through continuing professional development programs.

23.74 The Inquiry is also of the view that the HGCA should work collaboratively with key professional and educational bodies to design and enhance education and training programs aimed at improving genetic health services provided by medical practitioners as well as other health professionals.