The role of genetic counsellors has been thrown sharply into focus by the 100,000 Genomes Project and the move towards mainstreaming genomics into every day NHS care.
Technology, practices and patient pathways which are totally new to the rest of the health care community have been routine to genetic counsellors for many years and their knowledge and expertise has been crucial to the pioneering NHS England project, the largest of its kind in the world.
This is certainly true in the West Midlands, where the team from the West Midlands Regional Genetics Service, based at Birmingham Women’s Hospital, part of Birmingham Women’s and Children’s NHS Foundation Trust, have been crucial.
Among them is Peter Marks, a consultant genetic counsellor who is also the current chair of the Association of Genetic Nurses and Counsellors (AGNC).
He is delighted to see the spotlight turned upon the work that he and his colleagues do – and to see their speciality figuring so prominently in NHS future thinking.
“As a regional genetics service we’ve been historically involved with witnessing all the developments in the field, from the earliest chromosome tests, through single gene tests, to gene panels and now the 100,000 Genomes Project,” he said.
“To us, the project feels like the logical evolution to the technology, whereas to other specialities outside of genetics it’s a huge amount of new ideas to get to grips with all at once.”
As well as genetic counsellors the regional genetics service employs clinical geneticists, specialist registrars and nurses and admin support staff, who all work closely with the West Midlands Regional Genetics Laboratory, also based at Birmingham Women’s Hospital.
“I suppose we had an advantage in terms of being prepared for the project.” added Peter. “We’ve already worked on various programmes such as the deciphering developmental disorders (DDD) study, although nothing on this scale.”
Effective counselling, maintains Peter, is pivotal in supporting patients through the process of genomic testing and diagnosis.
“There are particular issues around genomics, such as the sharing of data and cascading to other family members, that we’ve got particular experience of and that we can help others to get to grips with and understand.
“The information that could come back after a test may not just impact the person who has taken part but other family members and it’s about how you talk to them about sharing that information around the family, what responsibility do they have for communicating that information to the other family members?”
And in some cases, of course, there may be additional findings or the results may be inconclusive – all of which needs sensitive handling.
“We could potentially identify things which we weren’t looking for and might well identify things that we don’t yet understand,” added Peter.
“In genetics in the last few years we’ve had to become a lot more comfortable with this idea of uncertainty. We are very used to getting reports that say we’ve found x change in x gene but actually we don’t know what it means.
“To be able to communicate that to patients who want a very clear answer, a black and white answer, when we’re having to say, ‘Well, actually you’ve got the grey answer’ is one of the big challenges we face.”
Peter and his colleagues in the regional genetics service have not only helped to counsel and consent participants in the 100,000 Genomes Project, though.
They have also provided education and training other staff involved in the project and their existing relationships have proved essential in gaining the buy-in of specialities in the 17 NHS Trusts across the region which make up the West Midlands Genomic Medicine Centre.
In his role with the AGNC Peter is determined that his profession will continue to play a central role in the move towards genomic diagnosis and is excited about the prospects that such large scale testing offers for personalised treatment and new drugs and therapies.
“Genetic counsellors are a highly qualified and skilled workforce in a very strong position to make great contributions to the mainstreaming of genomics,” he said.
“For so long we have had to counsel patients and families about conditions that simply cannot be treated. The possibility of treatment is the ‘Holy Grail’ in genetics.
“Now we are seeing developments creeping in which can actually treat some of these patients. Obviously the hope is that the 100,000 Genomes Project will accelerate the rate at which treatments are developed. That would be tremendously exciting.”