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Nurse education: how genetics can inform our practice

Alison Foster
Independent Health Writer

In September 2008, the Nursing and Midwifery Council (NMC) agreed the principles for the revised standards of pre-registration nurse education. One of the main principles accepted was that nursing should be a degree profession across the UK, although in Wales this was adopted in 2004.

The NMC has now drafted the revised standards. However, the detail of the curriculum is not within the remit of the NMC, as it is the responsibility of the higher educational institutions. Universities now have to redesign their programmes to ensure that they meet the
new standards.

Our genes play a key part in determining who we are. Genes are the fundamental unit of inheritance. They are spiral lengths of deoxyribonucleic acid (DNA), containing information for building proteins. Proteins control the structure and function of all cells.

Genes are packaged inside chromosomes. Most cells have two copies of every chromosome and we each have two copies of virtually all genes, because we inherit one copy of each chromosome from our parents. The working draft  of the human genome - the genetic information in human cells - was unveiled in 2000. Any genome is a collection of DNA sequences, long strings of the chemical “letters” A, T, G and C (adenine, thymine, guanine and cytosine). Our DNA is a window to evolution and recent human history as it demonstrates the adaptations of man to his environment over time. There have been huge advances in gene sequencing and, since the Human Genome Project got under way in 1990, it has become cheaper.

Genes play a part in a variety of diseases. In a few conditions, such as cystic fibrosis, a mutation in a single gene is sufficient to cause disease. In the majority of diseases, however, such as diabetes and asthma, the influence of our genes is much more subtle. Our genes interact with the environment or a particular trigger, for example, lifestyle change, that results in a disease condition becoming established. Genetic differences have a mix of costs and benefits. This can be illustrated in the case of the haemoglobin gene, which has a number of known mutations. Carrying one altered copy of the gene can help to protect against malaria, but carrying two can lead to diseases including sickle-cell anaemia or thalassaemia. Cancer cells have aberrant genomes and develop as a result of pre-susceptibility, exposure to chemicals and
certain environments.

Once a gene is linked to a particular condition, it may lead to the development of a genetic test. Cystic fibrosis is a case in point, and tests are available to detect both the disease and the carrier state.

However, 20 years after the gene was identified, treatments aimed at specifically targeting the protein remain elusive.1 Therapies have improved, but prevention of the condition is yet to be achieved. Research into this area may eventually lead to appropriate treatments.1

Similarly, future research looking at how our genes affect our responses to drugs could eventually lead to an era of personalised medicine. An example is the enzyme complex in the liver known as cytochrome P450, which determines how we metabolise drugs. Some types of P450 reduce the effectiveness of antidepressants, while others diminish the response to painkillers like codeine. Another example is the use of the drug trastuzumab, which is effective for those breast cancer patients who have a specific receptor that responds to this drug. It has proved not to be effective if the receptor is not present, so will only work in certain people. Its use and distribution led to a public outcry, with the claim that postcode lotteries determined access to treatments.

The bacterium Neisseria meningitidis normally lives harmlessly as a commensal in the nose, but when conditions are right this organism can proliferate to cause meningitis. Research has shown that smokers are more likely to succumb to meningitis because of the effect that smoke has on the organism and the balance of the environment. Similarly, some gut
microbiota appear to affect the risk of obesity.1

Understanding the genetic structures of micro-organisms will allow us to understand and eventually prevent these illnesses from occurring.

Medical education: a comparison
The responsibility for setting standards for medical students lies with the General Medical Council (GMC). Their publication Tomorrow's Doctors states that doctors must have an understanding of genetics.2 These standards were reviewed in 2009. The standards set in 2003 remain current for existing medical training, but the revised document puts a greater focus on the importance of genetics. The Human Genetics Commission (HGC) states, “We believe that understanding the use of genomic tools for diagnosis, stratification of patients and choice of treatment in common diseases should form an important part of the undergraduate medical curriculum.”
In the NHS, doctors order about 70-80% of genetic tests. With the need for the drive towards world-class commissioning and a focus on quality standards, it is essential that doctors have a detailed knowledge of genetic disease risk and the complexity of disease states.

Education for nurses
The National Genetics Education and Development Centre (NGEDC) was set up in Birmingham in 2004, following the 2003 Genetics White Paper.3 It was established to address the educational needs of health professionals with the aim of incorporating genetics into core curricula and continuing professional development.

Professor Maggie Kirk, Leader of the Genomics Policy Unit at the NGEDC, described current genetic education as patchy. As a result, the NGEDC with Skills for Health has developed an educational framework, setting out learning outcomes. This framework provides national occupational standards for genetics. These standards can be used in the training and ongoing development of nurses and other health professionals. The framework is currently under review to ensure that the standards are in line with the developments in healthcare education and remain relevant to the future healthcare needs of patients and clients.

It is evident that nurses and midwives will need a thorough grounding in the principles of genetics in order to be equipped to provide high-quality healthcare in the future. An understanding of genetics will enable nurses to provide individualised and effective care. Genetic education will provide the vital knowledge underpinning care management plans. Those who elect to specialise in particular areas will need to consider what extra specialist knowledge they will need to fulfil the requirements of these roles. These issues are relevant to all those practising as nurses and midwives, so educational provision needs to be available not only during the pre-registration courses but throughout the careers of nurses and midwives.

This article has argued for the importance of genomic and genetic education to be considered within nursing educational programmes. Detailing the different aspects involved in genetic research highlights how important an understanding is, as it affects our practice in so many ways. One key area is the way in which we communicate with patients, carers and clients.
Genetics helps us to understand how drugs interact differently, the importance of family history taking, and most importantly our values and attitudes towards patients when considering genetic influences. The concern is that since the detail in curricula is the responsibility of individual educational institutions, provision will remain inconsistent and inadequate across parts of the UK.

1. Wellcome Trust. Genes, genomes and health. Big Picture Issue 11. London: Wellcome Trust; 2010. Available from:
2. General Medical Council (GMC). Tomorrow's Doctors. London: GMC; 2003.
3. Department of Health (DH). Our inheritance, our future: realising the potential of genetics in the NHS. London: DH; 2003.

National Genetics Education and
Development Centre

NHS Evidence - genetic conditions

UK National Screening Portal
(provided by the UK National Screening Committee)

PEGASUS (Professional Education for Genetic Assessment and Screening)
(PEGASUS provides education and training in
antenatal and newborn screening)

British Society for Human Genetics (BSHG)
(provides a directory of UK genetic centres)