A couple want to have children but there’s a history of cystic fibrosis in the family; who do they talk to about the risks? A man in his 30s is anxious about the threat of Huntington's disease and needs advice on whether to undergo tests; who can help him make the right choice?
Genetic healthcare is a complex and sensitive area, and until recently there’s been a dearth of fully-qualified nurses or genetic counsellors able to counsel and communicate with patients. But thanks to the research of Heather Skirton, Professor of Health Genetics in the School of Nursing and Midwifery, new skills and European competencies have been established, to effectively create a stamp of assurance for patient care.
“Genetics affects people’s health from conception to death,”
“And for those people with concerns about genetic conditions it is a really complex situation, bringing together family needs, with physical, mental and emotional health both in the present and the future. So it seemed madness that until recently the work of genetic counselling was done with no assessment or evaluation of a practitioner’s capabilities.”
During the 1990s, Heather helped to establish the genetic counselling profession in the UK, and as a recognised expert, was invited to teach health professional genetic counselling skills at the annual European School of Genetic Medicine, aligned to University of Bologna. It was here that the concerns of the continent’s counsellors and nurses prompted the call for change.
“The overwhelming impression was that they were very under-supported in their national setting and there was no rigour in terms of who undertook these tasks. You had people who were eminently qualified in a laboratory environment, but who had had no training in communication. I became aware of the need for a coherent system in Europe, so that those nations that did not have a critical mass of nurses and counsellors to make a national system could still have a supporting framework of competency-based registration.”
Heather was invited onto the EU’s Framework Programme 7 EuroGentest project, which was already running, to standardise and harmonise genetic testing across Europe. From 2005 she led the process of developing a series of core competencies that could be applied to health professionals in primary, secondary and tertiary settings in all European countries.
This took the form of a five-stage study to ascertain the views and opinions of experts in the field of genetics and genomics from a wide range of European countries. The competencies were submitted for scrutiny to members of the Board of the European Society of Human Genetics, before being presented to representatives of 43 national genetics professional societies from 37 European countries for feedback. The resulting agreed framework is now in place across Europe, comprising 18 competencies in areas such as communication, interpreting genetic results, and psychological assessment, and covering all of the professions. It’s also informed the development of masters programmes, including here in Plymouth, which runs the only course in Europe to offer a postgraduate certificate in genetic healthcare for specialist nurses.
Heather is now the inaugural chair of the new European Board of Medical Genetics which oversees the registration and accreditation process for genetic counsellors, nurses, medical geneticists and laboratory scientists. She said:
“The work we’ve done has effectively established a Quality Assurance programme for Europe, and provides an opportunity for professionals to have their own competence assessed by external experts. But crucially, this is about patient care and providing the best support and guidance for people that we can.”