Dr Jonathan Roberts discusses how genetic counselling may develop in the new age of genomic medicine.
When I tell people, I am a genetic counsellor I get three responses. First, someone might make the following joke; “What, does that mean you counsel genes?”. Second, someone may choose to share their family history with me. Third, and most commonly, somebody asks; “Err, what is a genetic counsellor?”
It’s a good question, and one we address fully in a new online course – What is Genetic Counselling? – developed by the Society and Ethics Research and Advanced Courses and Scientific Conferences teams. But here’s the short answer: Genetic counsellors are healthcare professionals, who are trained in medical genetics. They also have advanced training in counselling and communication skills. Genetic counselling can be described as the support people receive when they have, or are at risk of having, a hereditary condition. We have three genetic counsellors in Connecting Science: myself, Dr Christine Patch, and Dr Anna Middleton.
Before we go into what the future might hold for genetic counsellors, I want to go back and explain a little about how the discipline of medical genetics emerged and how the profession of genetic counselling developed from this. The 19th and first half of the 20th century saw the modern day revival of the eugenics movement. Eugenics is the belief that some groups of people are superior to others, based on their genetics, and eugenic policies aim to eliminate people viewed as inferior from the population (the most horrific example of this being the Holocaust). However, many countries, including the UK and the USA, had eugenic policies that continued well into the 20th century.
The post-war period saw a number of developments in science and attitudes as understanding of genes and human heath advanced – for example, in 1959 the cause of Down’s syndrome was found to be due to the presence of three copies of chromosome 21. At the same time, pre-natal testing became more available, and in 1967 abortion was legalised in the UK. This meant that genetics became part of reproductive care in the NHS and, given the history, you can see why people may have been a little nervous.
Enter genetic counsellors, a profession that sought to be an antidote to eugenics. It did this by adopting some important ethical principles, which included patient-centred care, informed consent, and non-directiveness (the patient supported to use their own judgement rather than rely on that of others). In short, genetic counselling sought to empower patients.
As we move into the ‘genomic era’, genetic counsellors are still empowering patients. But the ecology of healthcare is changing, whole genome sequencing is coming fast, and it is likely that it will soon be a routine part of healthcare. As healthcare changes, our profession also needs to evolve, and as such there is a pressing need for research to provide an evidence base for genetic counselling. Society and Ethics Research will be at the forefront of this research. We have a strong connection to the Clinical Genetics team at Cambridge University Hospital NHS Foundation Trust, and we are researching innovative ways of improving patient care with them. Our latest project is ‘the Music of Life’, for which we developed six short films that explore the metaphor of genes as music. We are investigating if these are useful for patients and counsellors as a way of understanding and starting discussions about genetic terminology.
Connecting Science is at the forefront of the genomic training of genetic counsellors in the UK, delivering events, networks, and resources to support us to stay at the cutting edge of our profession.
So, what is the future of genetic counselling? All we really know is that it is exciting and that it is being shaped by the work from Connecting Science. My advice: watch this space!