Dr Emma Tonkin is a senior research fellow within the Genomics Policy Unit (GPU) at the University of Glamorgan. She is currently looking at the role nurses and midwives play in providing genetics information to individuals and families.
TONY* is married with children. He has been hospitalised many times throughout his life because of a genetic condition and is now afraid of going back into hospital because staff often don’t know enough about his illness.
Lesley* suffered a heart attack at just 33 and tragically her son died aged 23 of the same condition; an inherited form of high cholesterol.
Genetic conditions are often thought to be rare, but Tony has the most common inherited blood disorder (sickle cell disease) and the condition in Lesley’s family also affects one in 500 of the population.
We know that genes also play a role in most common diseases including stroke, asthma and cancer.
In fact by the age of 60, six out of 10 people are likely to have developed a disease that is at least in part genetically determined.
Every day, science provides us with a better understanding about our genes, what they do, their role in health and illness and how they are affected by our lifestyles and the environment in which we live.
These scientific advances are changing healthcare.
Genetic information can be used to make a more accurate diagnosis for some people, provide more personalised predictions of disease risk, develop new screening tests, drugs, therapies and better targeted treatments to improve patient outcomes.
What this means is that health professionals need to know about genetics. They need up-to-date education to offer care and support to patients and their families and to incorporate new advances into healthcare services.
Nurses and midwives play a central role in the NHS and outnumber doctors by more than two to one.
They are often best placed to spend time talking to individuals and families to help them understand their personal health situation.
My work focuses on the specific knowledge, skills and attitudes in genetics that this group of health professionals needs to have.
I work with universities across the UK to improve the teaching of genetics to the next generation of nurses and midwives.
Genetics is often taught with a focus on the “complicated science” and sometimes this makes it difficult to understand how this is relevant to patient care.
The work I do moves away from this by keeping patients and their families at the centre of genetics education.
Working with colleagues at Plymouth University and Genetic Alliance UK we have developed a website, Telling Stories, Understanding Real Life Genetics (www.tellingstories.nhs.uk).
Using the personal experiences of more than 100 people, the website illustrates the implications of living with a genetic condition and how nurses and midwives can make a positive difference in the care they provide.
Before I moved to the University of Glamorgan I was a laboratory scientist.
The role I took up with the GPU in 2005 offered a very different challenge. I love the work we do but it is a gradual process. We know that it may take some time before we reach the UK’s 660,000 nurses and midwives but the difference it can make to the lives of people such as Tony and Lesley is important.
As Tony says at the end of his interview: “As long as you get some sort of educational understanding … that would please me.”
*Names have been changed. Their stories can be found at www.tellingstories.nhs.uk
Follow Emma’s work on Twitter @emmattonkin and @GlamorganGPU or contact her for more information email@example.com
This article first appeared in the Western Mail‘s Health Wales supplement on 24th September, 2012, as part of the Welsh Crucible series of research profiles.