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Genetics education for nurses, midwives and health visitors

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Hilary Burton, MA, BM, BCh, MFPHM; Ann Shuttleworth, BA; Alison Metcalfe, PhD, BSc, RGN.

Hilary-Consultant in Public Health Medicine and trainer and supervisor of specialist registrars in public health medicine, Public Health Genetics Unit, Cambridge; Ann-Freelance Health Journalist; Alison-Research Fellow, School of Health Sciences, University of Birmingham

Significant advances in genetic science have taken place in recent years, including the publication by the Human Genome Project of the finished sequence of the human genome. These advances have major implications for health-care provision, as they make it possible to develop new interventions to detect, prevent, treat and manage conditions with a genetic component.
Significant advances in genetic science have taken place in recent years, including the publication by the Human Genome Project of the finished sequence of the human genome. These advances have major implications for health-care provision, as they make it possible to develop new interventions to detect, prevent, treat and manage conditions with a genetic component.

With increasingly detailed genome maps researchers have been able to find genes associated with hundreds of conditions, including myotonic dystrophy, fragile X syndrome, neurofibromatosis types 1 and 2, inherited colon cancer, Alzheimer's disease, and familial breast cancer. Genetic susceptibility to common multifactorial diseases such as cancer, heart disease and diabetes has also been identified, making it possible to predict disease in certain individuals.

To date, practice in genetics has involved small numbers of specialist medical, nursing and laboratory practitioners. However, as the applications of genetic science in health care increase, a wider range of professionals are likely to become involved in new roles including screening, assessing family history, advising over possible risk, and providing treatments and lifestyle advice tailored to individual patients. The Government has already recognised that genetic medicine will spread from specialist centres into local hospitals, GP surgeries and health centres, and signalled its intention to develop modern genetic health services (Milburn, 2001).

Nurses are likely to have the opportunity to take on many of the new roles in these services. However, most nurses - and other front-line health professionals - are unfamiliar with the science and practice of genetics, and will need access to education on the basic science, its practical applications and some of its ethical, legal and social implications. Current educational provision is insufficient to provide the necessary knowledge and skills.

This paper discusses current genetic education provision, and the implications for nursing practice and nurse education of the advances in genetic science.

The research project
In October 2001, the Public Health Genetics Unit (PHGU), part of the Cambridge Genetics Knowledge Park, was commissioned by The Wellcome Trust, an independent biomedical research charity, to develop a strategy for the education of health professionals in genetics.

The project's first phase was to undertake a needs assessment and review of current educational provision (Burton, 2002). The second phase involved developing a national strategy for the education of health professionals in genetics. This phase, funded jointly by the Department of Health and The Wellcome Trust, is now nearing completion.

The main sources for the needs assessment were published policy documents and literature reviews, other published and unpublished reports, personal contact, and material published on university and other websites augmented by email correspondence where possible. A detailed telephone survey was also undertaken on the provision of postgraduate genetic training and education for nurses (Metcalfe, 2002).

Genetics in nursing practice
Single-gene disorders
Nurses already need knowledge and skills in genetics in a number of clinical areas. Within the sphere of single-gene disorders there are inherited diseases in a wide range of clinical specialties (Table 1). Nurses in these specialties need to know about these disorders and how to identify patients who may be affected. They need to be able to discuss the implications and possibilities with them, and refer to specialist services where appropriate. People living with these conditions, and the families of newly diagnosed babies and young children, are also likely to present to primary care nurses and health visitors, who will be involved in delivering ongoing care and helping patients to manage their conditions.

These areas are of immediate concern, as interventions are already available which may benefit patients, yet research suggests that services are not equipped to offer them. The National Confidential Enquiry into counselling for genetic disorders by non-geneticists (Harris et al, 1999) reviewed more than 1000 patients where genetic events occurred involving potentially avoidable cases of Down's syndrome, neural tube defect, cystic fibrosis, beta thalassaemia and thyroid cancer. It found that clinicians tended to concentrate on current aspects of care, and overlooked the need to provide counselling or record information that patients would need later when making decisions about reproduction or disease prevention.

Other single-gene disorders can lead to high risk of common diseases such as heart disease and some cancers such as colorectal, breast and ovarian cancer. Opportunities now exist for preventive strategies. Drug treatment with 3-Hydroxy-3-Methyl-Glutaryl Coenzyme A (HMG CoA) reductase inhibitors (statins), for example, can reduce the risk of heart disease in those with hyperlipidaemia and may reduce coronary risk in those with familial hypercholesterolaemia (Marks et al, 2000). Increased surveillance, chemoprevention and prophylactic surgery can all play a role in the prevention of colorectal, breast and ovarian cancers. Practitioners therefore need to understand the need to identify at-risk patients through taking family histories, and be able to support them in decision-making along with genetic and other specialist services.

Multifactorial diseaseIt is likely that genetic components will be identified in most common disorders including hypertension, coronary heart disease, stroke, Alzheimer's disease, rheumatoid arthritis, diabetes, many cancers, depression, schizophrenia and osteoporosis. These diseases are thought to be determined by multiple genes with each having a small effect in increasing risk, interacting with environmental factors such as diet or smoking. Because of the high prevalence of these diseases, this may have even greater relevance for front-line professionals than single-gene disorders. These practitioners may be involved in identifying at-risk patients, and advising on relevant preventive measures such as lifestyle modification, drug therapies and screening. As genetic testing becomes cheaper and more widely available - currently some tests are even available on the internet such as paternity and other familial tests - professionals may also be called on to help patients decide whether to have tests, interpret their results, discuss genetic risk and offer advice. To do so they will need some understanding of the underlying science and evidence of benefit and be able to communicate this, including the associated uncertainties, to their patients.

Roles in genetic care
Primary care
The primary care team acts as a gatekeeper, referring to specialist services where necessary. The extent to which services are provided in primary care depends at least partly on the willingness and ability of individual organisations to do so. There is already support for GP practices taking on activities such as screening for common recessive conditions, antenatal screening and genetic counselling for those with a family history of cancer (Emery et al, 1999). There is an important role, for example, in providing general advice to concerned patients with a family history of cancer, where this is not at a high enough level for genetic testing to be useful or appropriate. However, mounting GP workloads and pressure from other priorities such as The NHS Plan (DoH, 2000) and National Service Framework targets make it likely that practice nurses will have the opportunity to take on new roles in this area. A number of tasks have been identified, based on research into breast cancer care (Hoskins et al, 1995), that can be carried out in primary care:

- Assessing patients' preconceptions about the aetiology of disease

- Discussing perceptions of risk

- Constructing family pedigrees

- Assessing individuals' risk of developing diseases

- Helping to guide families to appropriate surveillance programmes

- Identifying families eligible for genetic testing and referring to specialist testing centres

- Identifying and referring individuals who may benefit from genetic counselling.

Box 1 provides a case study of a question of genetics posed to a practice nurse.

Antenatal careA growing number of genetic disorders can now be detected by prenatal testing (Advisory Committee on Genetic Testing, 2000), including chromosomal disorders such as Down's syndrome and single-gene disorders such as cystic fibrosis or Duchenne muscular dystrophy.

Some women prefer to discuss concerns about genetic issues with their midwives rather than their GPs. Many find midwives more approachable, and develop a stronger relationship with their midwife throughout their pregnancy. They may also feel less rushed in midwifery appointments, have taken time to be ready to discuss the issue, or have become aware of a genetic issue some way into the pregnancy. In the antenatal booking clinic midwives also discuss areas such as family history and help women to consider whether to take up antenatal screening such as that for Down's syndrome or haemoglobinopathies.

Midwives therefore need to know which conditions can be detected by genetic testing, where to find information to update their knowledge and when to refer women to specialist genetics services. They need to be able to discuss some technical aspects of screening and concepts such as risk, and help women to understand the implications of test results. All this must be carried out with a knowledge of, and sensitivity to, the relevant ethical, legal and social dimensions.

While women considering genetic testing can access formal genetic counselling through specialist centres and organisations concerned with specific conditions, they may wish to discuss these processes with their midwives. Midwives must, therefore, be able to support women using these services, discuss the decision to undertake a test, help them to cope with the result and minimise its adverse effects on the family (Advisory Committee on Genetic Testing, 2000).

The literature review suggested that, like most groups being asked to take on new roles in genetics, midwives need education and training. Investigating the quality of counselling for women considering testing for fetal abnormalities, Marteau et al (1992) found they received little information about the test, condition screened for and implications of results. Khalid et al (1994) investigated midwives' attitudes to screening for Down's syndrome, and found that 46% did not think they had received adequate information on the test, 40% did not feel confident in counselling for the test, and 16% had received no training on prenatal testing. Similar work on knowledge of haemoglobinopathies (Dyson et al, 1996) showed that specific training could improve knowledge.

These findings have significant implications for proposed antenatal and neonatal national screening programmes. These include a new national linked antenatal and neonatal screening programme for haemoglobinopathy and sickle cell disease, which was announced in The NHS Plan (DoH, 2000). Neonatal screening for cystic fibrosis is expected to start this year, while an antenatal screening programme for Down's syndrome and neonatal hearing screening are also being developed in the NHS. All these programmes will need to be supported and implemented by appropriately knowledgeable and skilled practitioners.

Genetics education for nurses, midwives and health visitors
Box 2 discusses how genetic issues affect nurses, midwives and health visitors in day-to-day practice.

A survey of higher education institutions providing pre-registration education revealed that most curricula did not include genetics (Kirk, 1999). Where it was taught it tended to focus on traditional genetics and biology, rather than such aspects as complex diseases, the role of the environment, risk, or ethical, legal and social issues.

A study of post-registration and postgraduate education carried out as part of this research project showed that education in this sector was also limited.

Issues were again raised about students' baseline science knowledge. Most tutors said they had to teach genetics at a very basic level in order that students could participate in the rest of the genetics course. This highlights the need to increase the scientific component of many pre-registration programmes.

A range of providers do offer education in aspects of genetics that are relevant to nurses, midwives and health visitors, and their professional bodies have recognised that they have learning needs in this area. There is also much easily accessible on-line educational material on genetics aimed at a wide range of people, including health professionals. These can be accessed through various websites (Box 3). Box 4 lists some planned and existing provision. However, despite this activity, there is no coherent strategy to promote and co-ordinate the development of educational initiatives for front-line health professionals. Initiatives often depend on the enthusiasm of individuals with a special interest in genetics, and often have difficulty in attracting funding.

A UK-wide strategy for genetic education
The second phase of the project, to formulate a UK-wide strategy to develop understanding and competence in genetics across a range of health professions, began in September 2002. A draft document for consultation is due to be published later this year. A key feature of the process was a series of stakeholder workshops for target professionals, including doctors, nurses, midwives and health visitors, dietitians, pharmacists and health service managers. Educational expertise was provided by the Open University Centre for Medical Education and the perspective of the general public was provided in consultation with the Genetic Interest Group, an umbrella group of organisations concerned with genetic disease.

The workshops were used to gain a broad consensus on educational requirements and consider how this education should be provided at all levels from undergraduate to continuing professional development. The process of education will be complex and will need to be sustained over many years until it is thoroughly absorbed into educational curricula.

The breadth and depth of material, from basic science to the ethical, legal and social aspects of genetics, and the need to target professionals at various stages of their careers, mean that a range of methods will be required to support formal and informal learning. These will need to include a detailed assessment of learning needs. The role of electronic or web-based resources, the development of material to support genetics in the curriculum, and the teaching roles and educational resources required for more specialised genetics courses or modules are all important aspects.

Information to support clinical practice, and other less formal learning opportunities will also be critical to the ability of non-specialist professionals to provide advice on genetic conditions.

Current opportunities and barriers to education in genetics are a major factor. For midwives, the need to develop education as part of antenatal and neonatal genetics screening programmes will be an early opportunity to enhance genetics education. However, difficulties arise from the many competing NHS priorities and the current content overload, all with its own imperative, in professional curricula. Delivery of genetics education is also hampered by the lack of experienced teachers.

As practitioners at the forefront of existing genetics services, nurses, midwives and health visitors are key groups in this strategy process, and will need to be actively involved in the development of appropriate genetic education. Whatever the outcome, a major programme is likely to be needed to raise awareness about the importance of genetics in health across the full range of professional groups, and adequate resources will need to be available to develop appropriate educational programmes.

- Anyone wishing to contribute to this important national work is invited to email the project leader on

Information about the project can be obtained from the Public Health Genetics Unit at

Advisory Committee on Genetic Testing. (2000) Prenatal Genetic Testing. London: Department of Health.

Burton, H. (2002) Education in Genetics for Health Professionals: Report to the Wellcome Trust. Cambridge: Public Health Genetics Unit.

Department of Health. (2000) The NHS Plan: A plan for investment, a plan for reform. London: The Stationery Office.

Dyson, S.M., Fielder, A.V., Kirkham, M.J. (1996) Midwives' and senior student midwives' knowledge of haemoglobinopathies. Midwifery 12: 1, 23-30.

Emery, J., Watson, E., Rose, P., Andermann, A. (1999) A systematic review of the literature exploring the role of primary care in genetic services. Family Practitioner 16: 4, 426-445.

Harris, R., Lane, B., Harris, H. et al. (1999) National Confidential Enquiry into counselling for genetic disorders by non-geneticists: general recommendations and specific standards for improving care. British Journal of Obstetrics and Gynaecology 106: 7, 658-663.

Hoskins, K.F., Stopfer, J.E., Calzone, K.A. (1995) Assessment and counselling for women with a familial history of breast cancer. Journal of the American Medical Association 273: 7, 577-585.

Khalid, L., Price, S.M., Barrow, M. (1994) The attitude of midwives to maternal serum screening for Down's syndrome. Public Health 108: 2, 131-136.

Kirk, M. (1999) Preparing for the future: the status of genetic education in diploma-level training courses for nurses in the UK. Nurse Education Today 19: 107-115.

Marks, D., Wonderling, D., Thorogood, M. et al. (2000) Screening for hypercholesterolaemia versus case finding for familial hypercholesterolaemia: a systematic review and cost-effectiveness analysis. Health Technology Assessment 4: 29.

Marteau, T.M., Slack, J., Kidd, J., Shaw, R.W. (1992) Presenting a routine screening test in antenatal care: practice observed. Public Health 106: 2, 131-141.

Metcalfe, A.M. (2002) A Survey of Higher Education Institutions' Provision of Education on Genetics for Post-registration and Postgraduate Nurses, Midwives and Health Visitors in England, Wales, Scotland and Northern Ireland. Birmingham: University of Birmingham.

Milburn, A. (2001) Speech by Rt Hon Alan Milburn, the Secretary of State for Health at the International Centre for Life, Newcastle-upon-Tyne. Available at: Accessed July 2003.
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