Role of the Clinical Geneticist
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1 HUMAN GENETICS SOCIETY OF AUSTRALASIA ARBN (Incorporated Under the Associations Incorporation Act) The liability of members is limited RACP, 145 Macquarie Street, Sydney NSW 2000, Australia Telephone: Fax: All correspondence to: PO Box 6012, Alexandria, NSW 2015 ABN No Guidance Title Document Number Publication Date September 2010 Replaces 2002GD01 Review Date August 2014 Clinical Geneticists are physicians who have undergone speciality training in genetics after general professional training in Medicine or Paediatrics (and occasionally other disciplines, such as psychiatry, obstetrics and gynaecology, ophthalmology). The speciality training covers a broad range of sub-specialities such as the genetics of adult and paediatric disorders, cancer, dysmorphology and neuro-psychiatry. Training also includes basic theoretical genetics, counselling theory and practice, laboratory experience and research. Services in Australia are, in general, delivered by metropolitan services with country outreach clinics. What do clinical geneticists do? Clinical geneticists see referred patients for diagnosis, management, genetic testing and genetic counselling. The disorders they investigate are not limited by age group, organ system or sex. Most patients are seen on only one or a few occasions. The process of genetic counselling runs through the work of clinical geneticists and involves the provision of both information and counselling. Information is provided about the features and natural history of the disorder, its genetics, the risk of developing it or passing it on to children, and ways in which the disorder might be prevented or the outcome improved. Counselling involves making that information understandable and useful for decision-making in light of the person's expectations, beliefs, emotional state and family relationships. Implications for other family members are also considered. September 2010 Page 1 of 5
2 Clinical Geneticists work with genetic counsellors and scientists to provide genetic services to the population of a defined geographical region. These genetic services include diagnosis of genetic disorders affecting all ages and body systems, birth defects and developmental disorders investigation of genetic and congenital disorders genetic risk assessment genetic counselling predictive testing for late onset disorders using agreed protocols where appropriate, follow-up and support and co-ordination of health surveillance for specific genetic conditions where appropriate, the offer of genetic services to extended families where appropriate and where sufficient resources exist, maintain genetic family register services liaison with genetic laboratories participation in national networks/collaborations education and training of clinical geneticists, other medical professionals and other health care professionals resource of expertise and information for other specialists, primary care doctors and other health professionals audit and participation in clinical governance within clinical genetics units as per hospital, state and federal regulations and requirements continuing professional development interactions with patient groups research clinical, biomedical, psychosocial and service related management and service development work in support of local Universities representing the speciality through local and national committees development of, advise those establishing screening programmes Many ethical issues arise in the course of genetics practice as a consequence of the predictive nature of some genetic information, the fact that genetic information has significance for both the individual and his or her family, and the sensitive nature of genetic information. There is a need for: confidentiality; formal consent procedures in several settings; careful counselling to ensure that patients understand the consequences of any proposed genetic testing; consideration of possible stigma and discrimination in families and the community as a result of genetic testing; application of guidelines for predictive or carrier testing of children; and appropriate procedures for approaching family members identified as at risk of a genetic disorder. September 2010 Page 2 of 5
3 The clinical geneticist and other healthcare professionals While individually uncommon, Mendelian disorders collectively affect a significant proportion of the patients seen by general and specialist medical practices, and in this context doctors need to recognise and address the genetic and family issues. Yet, most doctors have had little undergraduate or postgraduate genetics education, and do not feel confident to deal with the detail of the genetic issues. Clinical geneticists can assist, but many doctors are unaware of clinical genetics as a medical specialty and the role a clinical geneticist can play in patient management, and have never referred a patient to a clinical genetics service. This situation is likely to change as the genetics component of medical curricula increases and as postgraduate educators focus on genetic topics of relevance in general practice and medical and surgical specialties. Clinical geneticists and genetic testing Clinical geneticists play an important role in the provision of genetic testing, interpretation of test results and explanation of test results to families and doctors. This is because of the novelty and complexity of genetic testing and the associated ethical issues. For some tests, the role of the clinical geneticist may reduce as testing becomes more accessible and familiar, as technologies become standardised and robust, as interpretation of test results becomes easier, and as the clinical implications of test results become clearer. Complexity will increase, however, for testing that assesses disease susceptibility resulting from variation in multiple genes, especially as the test information must be combined with environmental and lifestyle information before it can be useful for management. Follow-up, support, co-ordination of health surveillance and services to extended families As in any other medical speciality, there is strong consensus that clinical geneticists will follow those affected individuals for whom ongoing input is believed to significantly influence their diagnosis and management. This is good medical practice. In addition, and possibly in contrast to other tertiary care physicians, clinical geneticists clearly have a responsibility to offer services to extended family members who may be at risk (or who have concerns about their risk) of developing a disorder or of transmitting it to their children. This is reflected in the geneticist s role in thinking about families rather than patients. Family involvement is the essence of the service which geneticists provide. Contact with relatives is made with the consent and co-operation of the index patient/family. September 2010 Page 3 of 5
4 It is within the role of the clinical geneticist to be available to support families at times of distress and also to facilitate their decision making processes. However, geneticists do not act as substitutes for other more focused supportive community services. Clinical geneticists strongly agree with the concept of health surveillance and care pathways and will participate in these activities. Some geneticists also undertake a co-ordinating role, especially if linked to a special service or research interest in a specific genetic disorder. Distinction needs to be made between the main role of the geneticist as provider of clinical genetic services, and the circumstances when specially qualified geneticists may chose to act as providers of medical care to those with particular genetic disorders. Education Clinical geneticists provide talks / lectures / seminars to a variety of health professionals. The need for genetic knowledge and information permeate almost all branches and professional levels of medicine as well as other disciplines such as ethics, social science, the law, media, insurance etc. Access to the internet exposes patient groups and the lay public to genetic information which can serve to confuse as well as to inform. Clinical geneticists recognise that they have responsibilities in the area of education and readily accept that their position may be best suited to translate some of the complex scientific concepts inherent to genetics into more understandable information. This is relevant when discussing how developments in the molecular area, in particular, are applicable to patient care - a role which geneticists would regard as one their core tasks as health professionals. It is proving increasingly difficult to respond to all requests, and therefore clinical geneticists must prioritise the educational demands made upon them and agree how to respond. Many Departments are actively involved in developing courses for different consumer groups and this collective approach will help to make the most efficient use of limited time and resources and also will allow development of specific skills. Research In a rapidly developing speciality where there are far more questions than answers, research forms an inherent part of the clinical geneticist's role. There is unanimity amongst practitioners that participation in research is essential to good clinical practice and that research activity should be broadly defined and not restricted to grant funded or laboratory projects. Legitimate research activities include clinical delineation and study of natural history, biomedical, psychosocial, service delivery etc. and can all be performed either individually or in collaboration. Given the value that Clinical Geneticists place on research activities, there needs tobe consideration to this in the definition of clinical geneticists roles. There is a danger that current staffing and funding levels, as well as the limitation of time in the current training programme for advanced specialist trainees, could lead to the sacrifice of this essential activity to the detriment of patient care. September 2010 Page 4 of 5
5 Conclusion Clinical genetics is a relatively new specialty and therefore many of our medical colleagues and health administrators have a poor or erroneous understanding of the exact role and function of a clinical geneticist in the health care system. Geneticists therefore have to continue to explain what our responsibilities are and what training is required to perform the varying and challenging roles in this particular speciality. Current workforce issues mean that too little time is allocated to teaching and research (see figure below which is based on Victorian data but is likely to reflect the situation in other states). In effect, as a result, Australia is falling behind in terms of research. Current increases in medical workforce graduates will lead to an increasing stress on the workforce to maintain under- and post-graduate education to an appropriate level September 2010 Page 5 of 5
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