Key messages

• It has been estimated that at least one in 10 of the patients seen in primary care has a disorder with a genetic component.

• Genetic knowledge, skills and attitudes are important to general practitioners providing support and management to patients and families with, or at risk of, genetic conditions.

Consideration of the family history in, for example, cancer, cardiovascular disease and diabetes, and understanding genetic aspects of antenatal and newborn screening, are particularly important.

• General practitioners have a key role in identifying patients and families who would benefit from being referred to appropriate specialist genetic services.

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[INTRODUCTION]

Rationale for this curriculum statement

The Royal College of General Practitioners in a 1998 report recognised that general practitioners

(GPs) have been involved in the detection and management of genetic diseases for many years and that this role would be likely to increase with advances in genetics.2 A study in general practice published in 2004 indicated that a minimum of one in 10 patients seen in primary care has a disorder with a genetic component.3

Identifying those whose disorders are likely to have a major genetic component may affect management decisions, not only for the patient but also for the family. For instance, single gene disorders, although individually rare, are estimated to affect up to 5 % of the population and cause considerable ill health and premature mortality.4 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’s syndrome and inherited cardiomyopathies and arrhythmias respond to specific forms of treatment, and may cause death if not detected.

Studies indicate that around 25–35% of some common cancers, including breast, bowel and prostate cancers, have a heritable component.5 The identification of genes predisposing to breast, ovarian and colon cancers has led to an increase in the number of people referred to cancer genetics services.6 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.7

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. The RCGP argued that GPs should not be expected to have extensive genetics knowledge but that it was important that they be able to recognise those with genetic conditions, referring appropriately and reassuring patients with concerns about genetic disease, where guidelines suggest their family history places them at population risk only.2

Highlighting the knowledge, skills and attitudes about genetics during training is therefore likely to be of value to GPs providing support and management to patients and families with, or at risk of, genetic conditions, and to prepare for future clinical advances. This includes considering the family history in, for example, cancer, cardiovascular disease and diabetes; considering genetic aspects of antenatal and newborn screening; and ethical and social implications of genetic testing. Although regional genetic services continue to work in partnership with general practice over the care of families with Mendelian and chromosomal disorders, as genetics increasingly shifts to encompass common disorders, GPs are likely to deal with progressively more genetic information.

UK health priorities

Several reports have identified the impact (both realised and potential) of genetics on health care for the UK.2,8,9,10,11 In 2003, the Secretary of State, Alan Milburn, outlined in several speeches the government’s policies and investment programmes to prepare the NHS. These culminated in the publication of a white paper, Our Inheritance, Our Future: realising the potential of genetics in the

NHS.4 It demonstrated that the Department of Health recognised the current and potential benefits that genetics may bring to health care. This was accompanied by further investment in service provision, education and research. It outlined a number of roles for primary care in genetics, including managing patients’ concerns and expectations, identifying conditions, acting as a gatekeeper to specialist care and providing and co-ordinating long-term care. The white 5 paper recognised that GPs are uniquely placed to help patients benefit from genetics due to: their understanding of the long-term, psychosocial aspects of illness; their skills in working with individuals in the context of their families over time; their ability to identify health problems and make appropriate referrals; their skills in co-ordinating the care of the affected patient; and their role in health promotion and prevention. The white paper also recognised the need for genetics education to be better integrated into primary care training.

The principles of identification and management of genetic disorders are recognised in several National Service Frameworks. There are specific references to the role of primary care in:

Cancer:12 the Cancer Plan recognises that primary care teams have a key role in identifying patients at highest risk of an inherited predisposition to cancer, and that they will require clear referral guidelines to help them in this role.

Coronary Heart Disease13 standards 3 and 4 address preventing coronary heart disease (CHD) in high-risk patients. A chapter on ‘Arrhythmias and sudden cardiac death’14 highlights that a good awareness in primary care of inherited conditions that can lead to sudden death is important in preventing some of these deaths’

Long-Term Conditions15 recognises the importance of referral to a geneticist for conditions that are genetic in origin, such as Huntington’s disease.

Diabetes16 standards 5 and 6 recognise that maturity onset diabetes of the young (MODY) and other rare genetic disorders of insulin metabolism may be diagnosed in children and young people.

Renal Services: part 2 chronic kidney disease, acute renal failure and end of life care17 outlines the care pathway for patients with chronic kidney disease and recommends monitoring at-risk populations, including those with a family history or genetic risk of kidney disease.

Children, Young People and Maternity Services: key issues for primary care18 identifies prospective or existing parents with a family history of a genetic disorder, and those who are concerned about familial disease or disabilities, as people who need specialist pre-conception advice, information and support.

The importance of the family history is highlighted in NICE guidelines on epilepsies,19 diabetes,20 colorectal cancer21 and breast cancer.22

Guidelines from both the National Institute for Health and Clinical Excellence (NICE)22 and the Scottish Intercollegiate Guidelines Network (SIGN)23 outline areas (particularly in familial breast and ovarian cancers) where primary care practitioners should be aware of genetic issues in their practice.

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[LEARNING OUTCOMES]

The following learning objectives describe the knowledge, skills and attitudes that a GP requires when relating to patients and families with genetic conditions. Due to the nature of genetic conditions, this curriculum statement should be read in conjunction with the other RCGP curriculum statements in the series. The full range of generic competences is described in the core RCGP Curriculum Statement 1, Being a General Practitioner.

Primary care management

• Be aware that a significant minority of any practice population will include patients who have a genetic condition.

• Describe how to identify patients with a genetic condition, including those who may present with a condition of which there is no family history.

• Describe how to use family history and knowledge of inheritance patterns to identify those patients in the practice population with, or at risk of, a genetic condition.

• Describe local and national referral guidelines and guidelines for managing patients with genetic conditions.

• Describe where to obtain specialist help and advice on inherited conditions.

• Describe the organisation of genetics services.

• Describe how to make appropriate referrals to genetics services.

• Demonstrate how to co-ordinate care with other primary care professionals, geneticists and other appropriate specialists, leading to effective and appropriate care for those with, or at risk of, inherited conditions.

• Describe the support services available for those with a genetic condition (e.g. Contact a Family).

The knowledge base

Symptoms

Patients with genetic conditions may present with a wide variety of symptoms and signs, depending upon the disease they have. Symptoms and signs of some genetic conditions, particularly autosomal dominant conditions, can vary in severity and number between affected patients, even within families (e.g. variability of expression in neurofibromatosis). Anxiety about a family history of a disease, for example breast cancer, is also a common presentation.

Common and/or important conditions

Examples of common chromosome anomalies

• Down’s syndrome.

• Turner’s syndrome.

• Klinefelter’s syndrome.

• Translocations.

Examples of single gene disorders

Autosomal dominant disorders

• Adult polycystic kidney disease.

• Neurofibromatosis.

• Huntington’s disease.

• Hypercholesterolemia.