The day commenced with a welcome and introduction from Mike Dean, as Martin Green was sadly indisposed. The first talk was on Pre-implantation Genetic Diagnosis (PGD) by Alison Lashwood from Guys Hospital. She explained that all centres which carry out this procedure must be licensed and are very highly regulated. There are seventeen licensed centres in the UK, only about four of which are ‘active’, i.e. carrying out a significant number of procedures each year.
PGD requires a large team of people, including geneticists, specialists in IVF, embryology and paediatrics, along with scientists and administrative staff. To be eligible for NHS funding applicants must be under 40 years of age, nonsmokers, of average weight and not have any unaffected children. Successful applicants will be offered up to three cycles of IVF. The cost of self funded IVF is approximately 12,000 per cycle.
The time taken from licence application to the transfer of an unaffected embryo is approximately 12 weeks. This includes three weeks for stimulation of the ovaries, egg collection and fertilisation; and 7-8 weeks for testing the 6 day old embryos, freezing of the embryos whilst testing is completed, preparation of the womb lining, single embryo transfer and pregnancy testing.
If pregnancy is confirmed antenatal care can be provided locally, with paediatric follow up at birth and 18 months. If implantation is unsuccessful it can be repeated using another of the frozen embryos. PGD is now 99% reliable. As of June 2015, 500 single babies, 77 sets of twins and 5 sets of triplets (2 of these sets from early days when multiple embryos were implanted) have been born following PGD, with 90 pregnancies ongoing. PGD offers couples an alternative reproductive option and success rates are continually improving.
Clinical psychiatrist Dr Yoram Inspector then gave an informative and amusing talk on the Psychological Aspects of Familial Polyposis. He stressed the fact that people are different and that the challenge is to listen to the patient, who is the expert, and to individualise treatment. Treat the person not the gut!
He reminded us that we share 90% of our genes with mice, and told us of an experiment in which a mouse was given electric shocks, but had a means of escape and was unaffected by the experience. The mouse was then confined in a cage and given electric shocks. This time it resulted in the mouse becoming ill and developing ulcers. When this was repeated with two mice in the cage, they were relatively unaffected. He said that a traumatised person often finds it difficult to share because of the effect it may have on their friends and loved ones, but everyone needs a second mouse!
In closing, he recommended a new book called Gut by Giulia Enders which discusses the role of gut bacteria and how they can affect the mental state.
There then followed a short presentation by the Registry staff on The Role of the Polyposis Registry, one of whose aims is to look after families and not just individual patients. They also outlined the difference between a nurse practitioner and a nurse specialist.
The nurse practitioner works as an autonomous practitioner liaising with doctors and other health professionals as necessary. They see patients independently in clinic, record consultations on the Registry database, check test results and implement any necessary follow up. They also offer telephone advice and are involved in teaching and assisting with research.
The nurse specialist has two main roles that are genetic counselling and predictive genetic testing; and also taking family histories and identifying and alerting ‘at risk’ family members.
The administrators should not be forgotten, as ‘they are the glue which holds everything together’. Patients can help the staff by taking responsibility for their own treatment and follow up. Each endoscopy appointment costs hundreds of pounds, if you cannot attend please phone and give as much notice as possible, rather than just not turning up!
This was followed by “Question Time, with attendees having written their questions and posting them in a box during the course of the morning.
Professor Sue Clark, Dr Andrew Latchford and Dr Warren Hyer were on hand to give answers, and this proved a very popular session which we all hope will become a regular feature of future information days. Professor Sue Clarke then told us that the London North West Hospital Trust, of which St Marks is a part, has a current deficit of 80m. The new Polyposis app, which is funded by donations to the Polyposis Registry and from PolyPeople, is now being used by over 500 doctors worldwide. She thanked everyone who had raised funds and made donations to the Registry in the last year, and encouraged further fundraising efforts.
Dr Warren Hyer and Jackie Hawkins then gave a short update on “Paediatric Services”, including results from the study of colonoscopy under sedation, which showed 100% of patients were in favour. There followed an “Overview of Current Research Projects” by the research fellows, which included a study of colorectal cancer in Serrated Polyposis Syndrome.
Everyone then went to their chosen workshops. This year they included a PolyQuiz that gave us a chance to see if we had been paying attention during the day or whether we had been asleep!
Kay Neale concluded the day by expressing her thanks to all who had participated, and encouraging everyone to promote awareness of this annual event. We hope you can make it next year keep an eye on the website for details