This article appears in the following InnovAiT issue: Special issue; Genetics in primary care [View the issue table of contents]
Genetics in primary care practice?
Consultant Clinical Geneticist Director, NHS National Genetics Education and Development Centre
E-mail: peter.farndon{at}geneticseducation.nhs.uk
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Abstract |
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 TOP Abstract The GP curriculum has...Genetics and the patient...How was the curriculum...Resources to support genetics...References |
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Many people expect that future advances in genetic science will result in the availability of tests to identify genetic responses to drug metabolism and susceptibility for common disorders. These are predicted to result in interventions—medical or lifestyle—tailored to a person's genetic make-up. Others are more sceptical. Whatever one's view is about the future, however, it is important to ensure that patients and their families can take full advantage of the benefits that genetic information and testing can offer now.
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The GP curriculum has a statement on ‘Genetics in primary care’. Why? |
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TOPAbstractThe GP curriculum has...Genetics and the patient...How was the curriculum...Resources to support genetics...References |
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Advances in our understanding of genetic factors are increasingly influencing clinical management in many specialties, but the main aim of curriculum statement 6 is to ensure that families with or at risk of significant inherited disorders can be identified and referred as appropriate for specialist opinion.
Primary care is ideally placed to identify families at highest risk of genetic conditions. Indeed, General Practitioners (GPs) have been involved in the detection and management of genetic diseases for many years as recognized by the Royal College of General Practitioners in a 1998 report.
A study in general practice in 2004 indicated that a minimum of 1 in 10 patients seen in primary care has a disorder with a genetic component. How does one identify the families at highest risk?
Patients can be identified when a diagnosis which is known to have a genetic basis is made in themselves or a close family member (for instance Huntington's disease), through a pattern of affected people in a family, or from the results of a genetic test (for instance, carrier status for cystic fibrosis through the newborn screening programme).
The pattern of affected people may suggest one of the single gene disorders (for instance hypercholesterolaemia), or there may be a clustering of cases of common diseases (e.g. cardiovascular disease). The former pattern allows absolute risks of inheriting the condition to be calculated for family members, while the latter adds another risk factor to those known to be associated with the condition. As taking and interpreting the family history are key to identifying some patients with genetic disorders, two articles in this issue focus on these skills.
Genetic conditions can be due to an alteration in one gene, several genes in combination with environmental factors or imbalance of many genes—these are the underlying genetic bases of single gene, multifactorial and chromosome disorders as discussed in the article entitled What causes genetic disorders? on page 544.
Single gene disorders, although individually rare, are estimated to affect up to 5% of the population and cause considerable ill health and premature mortality. Within several common diseases, including heart disease and diabetes, there are subsets of patients whose conditions are due to a mutation in just one gene. Awareness of the inherited basis of these conditions may affect management and treatment. For instance, single gene disorders such as familial hypercholesterolaemia, Marfan syndrome and inherited cardiomyopathies and arrhythmias respond to specific forms of treatment and may cause death if not detected. Appropriate genetic testing may be particularly helpful to identify asymptomatic members who would benefit from prophylactic treatment.
Testing is also available for carrier status for conditions such as sickle cell anaemia and cystic fibrosis. GPs may well be asked to discuss the implications of a person being found to be a carrier through the antenatal and newborn screening programmes.
Taking a family history may identify those families with the highest predisposition to common diseases such as cancer and diabetes; this can influence referral, management and treatment. The identification of genes predisposing to breast, ovarian and colon cancers has led to increased referrals to cancer genetics services. In 2002, around 40% of cancer genetics referrals to clinical genetics departments came direct from GPs, and GPs dealt with an average of one or two consultations relating to family cancer a month.
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Genetics and the patient pathway: the role of primary care |
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TOPAbstractThe GP curriculum has...Genetics and the patient...How was the curriculum...Resources to support genetics...References |
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The NHS National Genetics Education and Development Centre asked colleagues in general practice and hospital medicine what they thought their respective roles were in the pathway for patients with genetic conditions. The results are illustrated in figure 1. GPs felt that their role was to identify and refer patients and to treat and manage the condition when advice had been received from hospital colleagues. They also felt that they had a role in explaining the implications of the genetic condition for the patient and the wider family, offering support and referral as appropriate.
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Their opinions highlight that many features of general practice are particularly relevant to genetics. For instance, GPs and their teams are skilled in counselling, screening and health promotion and have a special understanding of the impacts of health and disease on patients and families. Primary care also offers the opportunity for staged counselling—the giving and reinforcing of information over a number of consultations.
GPs are not expected to act as genetics specialists but to develop skills and knowledge in genetics to be able to recognize and refer patients appropriately. In addition, it is important that a GP can feel confident in the use of guidelines (particularly regarding breast and colorectal cancer) to reassure patients with concerns about genetic disease that their family history places them at population risk only.
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How was the curriculum statement developed? |
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TOPAbstractThe GP curriculum has...Genetics and the patient...How was the curriculum...Resources to support genetics...References |
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During the development of the genetics curriculum statement, the need to identify those aspects of genetics which are appropriate for general practice was paramount. The RCGP curriculum statement 6 ‘Genetics in primary care’ was therefore based on findings from an extensive consultation (using a modified Delphi process) with GP trainers, programme directors and geneticists and was informed by the views of GP speciality trainees on how genetics was seen and used in general practice. The process identified what were considered to be the most important knowledge, skills and attitudes. They fell into three themes of genetics in clinical practice: identifying patients, clinical management and communicating genetic information.
From the responses, learning outcomes were identified. Although they were identified through an independent process, they form part of a continuum of genetics education as they build on those developed by the NHS National Genetics Education and Development Centre for medical students and are complementary to those for specialist registrars.
Figure 2 is an overview of how the learning outcomes directly relate to the three themes of genetics in general practice.
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Participants in the survey also identified 17 genetic conditions, which were considered important for GP specialty trainees to understand and be able to manage. They include chromosomal conditions (e.g. Down syndrome), single gene disorders (e.g. adult polycystic kidney disease, haemochromatosis and haemophilia), common disorders with a genetic component (e.g. Alzheimer's disease) and familial cancers (breast and colorectal). The core concepts in genetics useful for general practice were also identified—DNA as the genetic material, how mutations and variants contribute to human disease and how to recognize patterns of inheritance.
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Resources to support genetics education in primary care |
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TOPAbstractThe GP curriculum has...Genetics and the patient...How was the curriculum...Resources to support genetics...References |
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The NHS Genetics Education and Development Centre is working with the Royal College of General Practitioners to support the genetics curriculum statement. An e-GP online programme is being developed, and a book outlining genetics concepts and practical case scenarios will be published later this year. In addition, the Centre's website contains many learning and teaching materials which support the acquisition of the learning outcomes in the curriculum.
Keypoints
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References |
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TOPAbstractThe GP curriculum has...Genetics and the patient...How was the curriculum...Resources to support genetics...References |
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Burke S, Bedward J, Thomas H, et al. Genetic education for non-genetics SpRs: a needs analysis (2005) Birmingham: University of Birmingham.
Burke S, Bennett C, Bedward J. The experiences and preferences of people receiving genetic information from healthcare professionals. Education and Development Centre. (2007) Birmingham:: NHS National Genetics. www.geneticseducation.nhs.uk [date last accessed 30.06.2008].
Cancer Research UK. CancerStats: genes and cancer (2002) London: Cancer Research UK.
Farndon P, Martyn M, Stone A. Curriculum statement 6. (2007) Royal College of General Practitioners www.rcgp-curriculum.org.uk [date last accessed 01.07.2008].
Hopkinson I. Clinical context of genetics in primary care. Presentation at: Reality not hype: the new genetics in primary care. ((2004) www.londonideas.org [date last accessed 06.2008].
Lucassen A, Watson E, Harcourt J, et al. Guidelines for referral to a regional genetics service: GPs respond by referring more appropriate cases. Family Practice (2001) 18:135–40.
NHS National Genetics Education and Development Centre. Medical students: learning outcomes. (2007) www.geneticseducation.nhs.uk/learning/medical.asp [date last accessed 07.2008].
Rafi I, Burton H. Genetics education and the general practitioner. Education for Primary Care (2007) 18:136–39.
Royal College of General Practitioners. Genetics in primary care: a report from the RCGP North West England Faculty Genetics Group. Occasional Paper 77 (1998) London: RCGP.
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