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Education in human genetics and genetic medicine

The public expects high quality health services provided by appropriately trained, skilled and knowledgeable health professionals. This is particularly relevant to human genetics because new discoveries occur on a daily basis.

What training is available to health professionals?

To meet the challenges of genetic medicine into the future, our medical students, the doctors of tomorrow, must have a thorough understanding of genetic issues so they can develop their professional skills in this area. Accordingly, the relevant professional Colleges and Societies provide a national approach to education in human genetics and its medical applications.

To ensure that medical students achieve appropriate standards in core issues related to human genetics, the Human Genetics Society of Australasia (HGSA) has published a set of genetics learning objectives titled Core capabilities in genetics for medical graduates[1]. The NHMRC encourages all medical schools to address the HGSA core standards in their curricula.

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How are clinical genetics services delivered in Australia?

In Australia, the majority of genetics services are delivered through specialised clinics in public hospitals, where there is access to clinical geneticists and genetic counsellors. Because of the ever-increasing amount of information becoming available about genetics, there is a need to involve an increasingly wider range of clinical health professionals such as general practitioners, specialists and nurses. A team approach is necessary because genetic problems are not isolated to any particular individual, but invariably affect the family as a whole since DNA is shared by members of the same family.

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What clinical genetic services are available in rural communities?

Outreach clinical genetic services are provided in a number of rural centres, where genetic counsellors work alongside visiting specialists from the major genetic clinics. Resource limitations and increased demand mean that new ways to give rural patients and families timely and appropriate advice and counselling are constantly being sought. The delivery of genetic services via the internet, or telemedicine (called eHealth), is being explored with this in mind.

Another issue is the provision of genetics services that take into account multicultural and Aboriginal and Torres Strait Islander cultural issues as well as rural challenges.

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What laboratory genetics services are available in Australia?

There is a mix of public and private laboratories providing pathology services in Australia. Most DNA work, particularly for less common genetic conditions, is undertaken through public hospitals. Compared to traditional pathology services, genetics testing provides an additional challenge since the focus on an individual patient can often broaden to include family members due to the familial nature of genetic testing information. Intensive counselling may also be required for patients and/or family members at risk.

The potential for Direct-to-Consumer (DCT) DNA testing, which allows health professionals to be bypassed, adds another challenge to laboratory genetics services in Australia (see the NHMRC topic on Direct to Consumer DNA testing [2]).

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Why is it important to educate our future medical doctors and other health professionals?

The changing and challenging scenes described above, as well as continuing new developments in genetic medicine, make it essential that the next generation of health professionals – medical doctors, nurses, counsellors, scientists and others – are well grounded in the principles of modern genetics. By understanding the basics, they will be able to continue their ongoing professional education and so provide up-to-date advice and patient care in an area that is having a major impact on health services.

The importance of educating the next generation of health professionals was highlighted in recommendation 23-4 of the 2003 Australian Law Reform Commission/Australian Health Ethics Committee report, Essentially Yours – the Protection of Human Genetics Information in Australia [3].

A practical outcome of the above report is the recent development and publication of Core Capabilities in Genetics For Medical Graduates by the Human Genetics Society of Australasia (HGSA) [1]. The HGSA has shown leadership and taken an important step forward in developing these core competencies that include knowledge, skills and professional attitudes on the subject.

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References

  1. HGSA. Core capabilities in genetics for medical graduates
  2. Direct to Consumer (DTC) DNA tests
  3. Australian Law Reform Commission/Australian Health Ethics Committee. Essentially Yours – the Protection of Human Genetics Information in Australia

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