Nexxus Scotland

Cathy Watt, Genetic Counsellor, Ferguson-Smith Centre for Clinical Genetics, Yorkhill Hospitals

Q: So, for those of us who don't know - what does a Genetic Counsellor actually do?

A: Genetic counselling has various aspects to it including education, research and service development but the focus of the service are the patients who have been referred to discuss their family history of disease.    

Counsellors meet with individuals to discuss the likelihood of an inherited predisposition to particular illnesses within a family. We discuss the pattern of inheritance, the impact of the illness, possible screening methods and interventions. We also discuss genetic testing ie identifying the particular gene fault or chromosomal abnormality. Genetic Counselling aims to empower individuals and their families to choose health care decisions which are appropriate for each individual.

Inevitably the initial consultation will have a ripple effect and we can see other family members if they wish. We also provide continuing support for the individual and their family as required.

At present, I am site specific to cancer so meet people concerned about a family history of the disease, providing information on risk, determining whether or not follow-up at a specialist surgical clinic is required and where possible offer mutation analysis. For those at increased risk of cancer it's important to promote a healthy lifestyle and ensure appropriate extra screening so we work closely with surgical colleagues throughout the region to ensure the correct patients receive the correct screening. Genetic testing also identifies individuals who are not at increased risk of cancer.

Q: Tell us about a typical day (or is there no such thing?)

A: Working in the health service means no day is typical - which makes this work so enjoyable and interesting!

Certain days are taken up with clinics and the subsequent work generated by patient consultations. Different people have different concerns so each consultation is different.  Outwith clinics a telephone call from a patient may necessitate prompt action, so altering the course of the working day.

A patient may live in the West of Scotland but their relatives may not and if they wish to be referred to their own regional genetics service we can arrange it. This means we can be liaising with colleagues in Scotland, throughout the UK and beyond, to co-ordinate care for a family. Likewise we also work closely with clinical scientists in the laboratories at home and abroad. 

Q: So what's taken up most of your time recently?

A: Earlier this year we set up an undergraduate module on genes and cancer for nurses and allied health professionals with the University of Paisley.   The module focuses on the rapidly developing field of cancer genetics in clinical genetics and aims to introduce, or extend, an individual's knowledge of the hereditary aspect of common cancers such as breast, ovarian and colorectal plus unusual cancer syndromes.

My colleagues and I also organised the UK and Eire Association of Genetic Nurses and Counsellors (AGNC) two day spring conference in Glasgow which was attended by 140 delegates. For the scientific part of the programme we aimed to provide a platform to highlight some of the excellent work done here in Scotland. We focused on two main areas - the genetics of common disorders eg heart disease, asthma and epilepsy and an overview of triplet repeat disorders. The conference also seeks to promote good practice and new developments in the field of genetic counselling.

Q: What's on the cards for the next few months?

A: In August 2006 the Scottish Executive published "Review of Genetics in relation to healthcare in Scotland" outlining plans for investment in the regional genetic services. Then the Scottish Executive Genetic Services Review Committee was set up, charged with the task to determine how to use this investment to the best advantage for patients and families in Scotland. The committee is looking at different areas including clinical genetics, laboratories, education, research and patient and public involvement. As a member of this committee I find this aspect of my work both interesting and challenging.

The Scottish Genetics Education Network (SCOTGen) was set up to develop e-learning modules for genetics education in Scotland for nurses and allied health professionals. This is a collaborative approach between universities in Scotland and members of the regional clinical genetics services and will be officially launched in Edinburgh in October 2007.

On the clinical front my colleagues and I aim to ensure that appropriate patients are offered the opportunity to participate in research. We are hoping to join the IMPACT study looking at targeted screening for prostate cancer for men in families where there is a known genetic mutation in BRCA 1 and BRCA 2. For this study we'll work with surgical colleagues in urology and it's satisfying to develop new links outwith genetics. We aim to start recruitment to IMPACT over the coming months.

Q: What would you do if you weren't doing this job?

A: I came into genetic counselling through nursing. Prior to that I undertook business and management studies at university but eventually realised this was not for me.

I really enjoy my work so don't see myself elsewhere. This work has afforded me lots of opportunities including studying for an MSc in Medical Genetics at Glasgow University and now participating in developing genetic services in Scotland. I'm fortunate too in that the counselling aspect of this work is so very rewarding.

For more information contact Cathy

T : 0141 201 0802, E: cathy.watt@yorkhill.scot.nhs.uk