Genetic counselling

23.7 The Human Genetic Society of Australasia (HGSA) defines genetic counselling as a communication process that deals with the human problems associated with the occurrence, or the risk of occurrence, of a genetic disorder in a family.

The process involves an attempt by one or more appropriately trained persons to help the individual or family (1) comprehend the medical facts including the diagnosis, the probable course of the disorder, and the available management; (2) appreciate the way heredity contributes to the disorder, and the risk of recurrence in specified relatives; (3) understand the options for dealing with the risk of recurrence; (4) choose the course of action which seems appropriate to them in view of their risk and family goals and act in accordance with that decision; and (5) make the best possible adjustment to the disorder in an affected family member and/or to the risk of recurrence of that disorder.^[4]

23.8 At present counselling is generally performed within a clinical genetics centre or a specialist service such as a familial cancer service. To ensure the effectiveness of genetic counselling, a multi-disciplinary team of professionals often work together. These teams may include clinical geneticists, other medical specialists, genetic counsellors, social workers and other health workers, as appropriate.

Genetic counsellors

23.9 In Australia, genetic counsellors are tertiary trained health professionals with specialist training in genetics and counselling. They are certified by the HGSA to provide genetic counselling in conjunction with a clinical geneticist (a medical practitioner who has undertaken specialist training in clinical genetics). Genetic counselling itself is a relatively new discipline in Australia—the first genetic counsellor received certification from the HGSA in 1991.

23.10 To commence training as a genetic counsellor requires tertiary qualifications, generally in a related discipline such as nursing, science, social work or education. To become an HGSA certified genetic counsellor requires accredited qualifications in both genetics and counselling (Part I) and two years full time equivalent supervised practice (Part II). The HGSA recommends that persons who have completed Part I of the training, and are working towards attaining Part II, should use the title Associate Genetic Counsellor. It also recommends that the title Genetic Counsellor should be used only after attainment of Part II of the certification. The HGSA Board of Censors for Genetic Counselling has established a post-certification program for the maintenance of professional standards for certified genetic counsellors.^[5]

23.11 A growing number of persons have attained Part I of the HGSA training and are working in areas such as research and education. The Australasian Society of Genetic Counsellors, a special interest group of the HGSA, is discussing the use of the title of Genetic Associate for such persons.

Anticipating future need for genetic counselling

23.12 In a submission to the Inquiry, Dr Jennifer Kromberg of the Queensland Clinical Genetics Service remarked:

Genetic tests include prenatal tests, neonatal tests (eg newborn screening), predictive and diagnostic tests. A large proportion of the population will require one or more of these tests sometime during their life. Physicians cannot meet the demand. Therefore if consent to testing is to be adequately informed properly trained Genetic Counsellors who are registered in a regulated profession must be available.^[6]

23.13 As genetic medicine and testing technology develop, there will be an increasing need for genetic counselling and related services. This demand has been recognised by similar inquiries overseas. In Canada, the November 2001 report of the Ontario Provincial Advisory Committee on New Predictive Genetic Technologies noted that:

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 services into current health care.^[7]

23.14 The Committee referred to the potential growth in the number and volume of genetic tests and their accompanying costs. The Committee made recommendations to increase the recruitment and training capacity for genetic service health care providers.^[8]

23.15 Resourcing of all aspects of genetic services in the United Kingdom is currently being examined by the Department of Health, as it is expected that the increasing demand for genetic counselling will not be met by the current or projected resources.^[9]

23.16 In Australia, submissions and consultations to the Inquiry highlighted concerns about increasing demand for genetic counselling.^[10] Submissions confirmed that steps need to be taken now to plan for this increased need.^[11] For example, the Centre for Genetics Education submitted that:

There is wide discrepancy in access to services throughout Australia that requires urgent addressing. It is also essential that the services are resourced appropriately, enabling genetics education of the community and professionals and access to and support for continuing education and training.^[12]

23.17 Similarly, the HGSA submitted that a national approach to clinical genetics services is essential to ensure equity of access, development of outreach services and the provision of culturally appropriate genetic counselling for the Indigenous community.^[13]

However, it will be important to take a broad view in addressing the [need] for more genetic counselling services. The need should be addressed by improving resources for genetic education as well as increasing the number of substantive and training positions for both genetic counsellors and clinical geneticists.^[14]

23.18 The funding of genetic counselling services is a closely related issue, which requires consideration. At present, genetic counselling is mainly provided within the state and territory public health system, for example, by genetic counsellors working in public hospital based clinical genetics services. The Medicare Benefits Schedule (MBS) does not cover genetic counselling by HGSA certified genetic counsellors. Some genetic counselling provided by medical practitioners may be covered by consultation fees. The Queensland Government submitted that the present lack of MBS coverage for genetic counselling may need review.^[15] It has also been suggested that any problems in relation to access to counselling are now more likely to arise from a shortage of paid positions for counsellors in the public health system than from a shortage in the number of people training as counsellors.^[16]

23.19 The Inquiry has concluded that, as genetic medicine and testing technology develop, there will be an inevitable increase in the need for genetic counselling services in Australia. Strategies should be developed now to assess and respond to this increased need.

23.20 The Commonwealth Department of Health and Ageing is aware of the rapid growth in the field of genetic testing and the potential need for many genetic tests to be accompanied by counselling.^[17] The Department is currently working with States and Territories through the Australian Health Ministers’ Advisory Council (AHMAC) on a number of issues relating to the provision of presymptomatic and diagnostic genetic testing.^[18] In February 2002, the National Public Health Partnership, a sub-committee of AHMAC, established a Public Health Genetics Working Group. In May 2002 an AHMAC Advisory Group on Human Gene Patents and Genetic Testing was established. The AHMAC Advisory Group will advise and make recommendations to AHMAC on matters relating to the planning, management, regulation, provision and delivery of human genetic testing and screening services, for the purposes of the diagnosis, prevention and treatment of human disease and the improvement of human health.^[19]

23.21 The Inquiry considers that AHMAC or National Public Health Partnership working groups may be appropriate forums within which national approaches to the provision of genetic counselling services could be pursued.

Development of genetic counselling as a profession

23.22 Submissions and consultations indicated strong support for the involvement of Commonwealth, state and territory governments in the further development of genetic counselling as a profession.^[20]

23.23 DP 66 noted that, unlike medical practice, nursing or psychology, genetic counselling is not a registered health profession. There is, therefore, no equivalent of provisions in medical practice acts that make it an offence for persons who are not registered medical practitioners to claim to be, or hold themselves out as, medical practitioners.^[21] There is no prohibition on any person, however qualified, holding themselves out as a genetic counsellor or offering genetic counselling services.^[22] Nor are there formal sanctions for breach of ethical or professional standards in genetic counselling.^[23]

23.24 Some submissions suggested that genetic counselling should be a registered health profession.^[24] Associate Professor John MacMillan of the Queensland Clinical Genetics Service submitted that:

Regulation of genetic testing to the public hospital and public health care systems offers the opportunity to ensure it is appropriately available to all who need it and that full informed consent is obtained by an appropriately trained health professional. I believe that such individuals should be part of a profession whose practice is governed by a licensing process or registration board. This would require that Genetic Counsellors (who are not medically trained) become registered with the Professional Registration Boards in each state under an appropriate system. These professionals would also be required to have professional indemnity insurance. Failure to regulate this ‘new profession’ could have serious adverse consequences for patients and families through the provision of misleading or incorrect information concerning the results and interpretation of genetic tests.^[25]

23.25 Dr Kromberg stated that the public needs to have access to expert genetic counsellors, but it also needs to be protected against untrained people who may set themselves up as genetic counsellors.

Genetic Counsellors are being trained at post-graduate level to provide Genetic Counselling services in Australia. However they are not yet recognised as a health profession and professional recognition and regulation are essential. Such regulation would contribute to the progression and much needed expansion of the profession, protect the public, and lead to the development of a standardised, high quality and ethical service.^[26]

23.26 The Centre for Genetics Education submitted that:

It is unacceptable that currently any health professional can call themselves a genetic counsellor without any sanction. This is unacceptable given the complexity of genetic information and the potential damaging outcomes if information is incorrect or incorrectly interpreted.^[27]

23.27 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists submitted that:

In clinical practice our Fellows often need to seek the assistance of Genetic Counsellors for the counselling and support of patients in our care. Currently a number of Ultrasound and IVF practices employ nurses, social workers and scientists who have a genetic counselling graduate diploma. It is essential that this profession is recognised as a health profession and a registration system is developed for its supervision.^[28]

23.28 The HGSA also submitted that genetic counsellors should be required to be registered and to be indemnified for their practice in order to ‘ensure adequate oversight of appropriate practice and enable genetic counsellors to develop their role’.^[29] The Association of Genetic Support of Australasia (AGSA) expressed the view that because counsellors are not registered and have no medical indemnity, a greater (and unnecessary) load is placed on clinical geneticists.^[30]

23.29 In the United Kingdom, the Association of Genetic Nurses and Counsellors is pursuing statutory registration of genetic counsellors through the Health Professions Council.^[31] The Health Professions Council is an independent regulatory body responsible for setting and maintaining standards of professional training, performance and conduct of the 12 health care professions that it regulates. The Council also ensures that registration of professionals is linked to continuing professional development.^[32]

23.30 The primary purpose of registering health professionals is said to be the protection of the public.^[33] The public interest is protected through the powers granted to health registration boards to recognise qualifications and assess the character of persons seeking registration, to discipline health professionals found guilty of unprofessional conduct, and to suspend or place conditions upon those whose capacity to practice is impaired.^[34]

23.31 AGSA stated that registration of genetic counsellors would be desirable in that it would encourage:

•  

  • Greater recognition of the profession

  • Genetic counsellors to be responsible for their own practice (with the backup of indemnity insurance)

  • Development of agreed minimum standards of practice that are universally accepted

  • Improvement of professional standards

  • Genetics units to be more proactive in training of counsellors, with the view to achieve finite goals put forward by a registering body

  • Achieving a certain level of independence for genetic counsellors in practice, without compromising professional standards

  • Relief of part of the clinical burden on geneticists, so that they may be used in other capacities, though this is not a replacement for ongoing medical supervision of genetic counsellors

  • Greater international recognition and acceptance of locally trained and registered genetic counsellors, which would encourage an exchange of expertise in the field, and benefit the profession in general.^[35]

23.32 Regulation of health professions has important competition policy implications. The National Competition Council has noted that overly restrictive or anti-competitive regulation can impose major and unnecessary costs on consumers and may contribute to the severe shortages of many health professionals, particularly in rural and regional Australia.^[36]

23.33 The Queensland Government noted that the integration of genetic counselling into established health professions should not be overlooked in a drive to establish genetic counselling as a recognised health profession. It stated that ‘registration is only one of a number of potential options to ensure appropriate standards are in place to protect the public’.^[37]

23.34 The Inquiry has reached no concluded view on whether a statutory registration scheme for genetic counsellors is desirable. A comprehensive assessment of the advantages and disadvantages of a registration scheme for genetic counsellors would be a major task—and one unsuited to the context of the present Inquiry.

23.35 However, in the Inquiry’s view, Commonwealth, state and territory governments need to examine closely all options for the further development of genetic counselling as a health profession. This examination should focus on measures to recognise the importance of genetic counsellors in building a bridge between emerging genetic science and the psychosocial needs of individuals who are, or may come to be, affected by genetic disorders. In this context, the development of clear standards of professional ethics would be desirable. There is also a need to protect the public from substandard genetic counselling services and, in particular, from persons who are not appropriately trained, qualified and supervised, holding themselves out to be genetic counsellors.

Delivery of genetic counselling services

23.36 The need for genetic counselling will vary depending on the particular genetic test involved and the context of testing. Genetic counselling may be required both before and after predictive or presymptomatic tests,^[38] following a positive genetic carrier test, and following an abnormal result on a prenatal diagnostic or screening test.^[39] However, where the testing is purely diagnostic, the provision of appropriate information prior to testing may be sufficient.^[40] If the result is positive, discussion of implications for relatives is essential. Some predictive tests may need skilled multi-disciplinary teams to deal with different aspects of the patient’s medical and social care.^[41] For example, internationally accepted protocols for presymptomatic testing for Huntington’s disease include provision of psychosocial support.

23.37 Madelyn Peterson and Dr Jennifer Kromberg noted that, while Queensland Health currently funds the provision of psychosocial support in Huntington’s disease testing, funding is not available to support individuals referred for predictive tests for other adult-onset neurodegenerative diseases or familial cancers, which raise similar psychosocial issues. They noted, for example, that genetic testing for familial cancer genes ‘generates potentially life-altering information about self, whether the result is positive or negative’. Such genetic tests will potentially necessitate decisions about prophylactic surgery, chemo-prevention trials, dietary and other health modifications, additional medical surveillance and insurance or privacy issues.^[42]

23.38 Other genetic tests may have fewer or less complex implications for the individuals tested and their families. Some predictive testing, where the penetrance of the gene is low, may be considered analogous to other tests used in clinical practice, such as the measurement of blood pressure or serum cholesterol,^[43] and may not necessitate counselling.

23.39 The United Kingdom’s Human Genetics Commission (HGC) has provided a useful comparison of tests of low and high ‘informational impact’ or significance for the individuals being tested—who therefore will have different needs in relation to counselling.^[44] The HGC has stated that there are a large number of tests that are of low informational impact:

This includes ‘genetic’ tests which result in limited information about inheritance (for example ABO blood grouping tests) or those which give information about acquired ‘somatic’ mutations (for example tumour genotyping in a pathology laboratory) which does not necessarily have any impact for genetic relatives. However, even here judgement is required, as ABO testing could readily reveal non-paternity and tumour genotyping may have important implications for treatment options and prognosis.

At the other end of the spectrum there are a number of genetic tests that might be considered to have high significance (or informational impact). There are genetic tests for conditions that potentially have a major impact on the health of the patient and possibly for the patient’s blood relatives. They also have wider implications in that the information that they disclose could affect the patient’s financial and employment prospects as well as affecting their social relationships. Examples of tests in this category include tests for late-onset genetic disorders or for fetal abnormality …^[45]