Paul’s story about the dominantly inherited familial adenomatous polyposis.
Paul’s story is about his FAP – an autosomal dominant condition which means multiple polyps in the bowel, that can lead to bowel cancer. Paul tells about the implications FAP has had on himself, his immediate and extended family. He also tells us of how he has gone on the develop an information and support website for people who have FAP in their family.
Point for reflection
- Paul says that they were dealt with as a family. What has been your experience of working with patients within such a context? Did you encounter any problems? If so, what were they?
- How could you support the family?
Visit www.fapgene.org.uk and discuss what areas of the website you consider might be of interest to:
- yourself as a health professional
- an individual with the FAP gene mutation and
- a family relative, at risk from the FAP gene mutation
Quotes to reflect upon
“We found she looked on us as a family not just as a patient or something, and we felt totally at ease.”
“…the genetics side was brilliant at the clinic, but there was nothing written down. It was all told to you and you had to try and remember, and I think my wife and myself, it just passed over us a lot of it. We just thought ‘oh that’s interesting’. It might be genetic, but there was nothing to read, to understand the implications to our family…”
“And when we went to the clinic afterwards and met the Professor, he didn’t look down on us and he was nice. The area was nice. The receptionist brought us a coffee and we felt at ease. But I think the word ‘counsellor’ sort of, we said we don’t need counselling you know. It’s not a counselling as such is it? They’re more of a friend. That’s how we found them.”
“…there’s different people who are actually interested in the website and that gives me a boost on a dark day.”
”The consultant who checks my stomach he said: ‘You know more than I do!’ And in a way you feel, ‘Hold on. You should know more than me!’”
How does this story relate to professional practice?
[We have linked this story to the Nursing Competences in Genetics (NCG) for nurses, midwives and health visitors. Further information on the competence frameworks can be found here]
Paul’s story describes the effect of FAP has had on both his close and extended family. This highlights NCG 1 which describes the importance of identifying those who might benefit from genetic services, information and the importance of family history in assessing risk.
NCG 7 is very relevant for this story. Having searched the Internet, Paul was not satisfied with the information available to those affected by FAP, therefore he built an information and support resource! In addition, both the clinical and nursing staff that cared for him supported this work and they consider the website useful to pass onto other patients and clients!
Content relating to the midwifery competencies in genetics will appear here shortly.
Learning Outcomes for GPs
We have linked this story to the learning outcomes for GPs listed in the Royal College of General Practitioners Curriculum Statement 6 ‘Genetics in Primary Care’, which describes the knowledge, skills and attitudes that a GP requires when relating to patients and families with genetic conditions. Further information on these learning outcomes can be found at: www.rcgp-curriculum.org.uk/PDF/curr_6_Genetics_in_Primary_Care.pdf
Paul had suffered symptoms for many years before he was eventually referred to a specialist and a possible genetic link was identified. Using their knowledge of family history and inheritance patterns, it is important for GPs to be able to identify those patients in the practice population with, or at risk of, a genetic condition (GP-1c). They should be familiar with local and national referral guidelines and also guidelines for managing patients with genetic conditions (GP-1d) and be aware of how to make appropriate referrals to genetics services in order to ensure timely and effective primary care management for someone like Paul (GP-1g).
Although he received information from the genetic services, Paul talks about the way in which this was communicated to him and comments ‘there was nothing to read, to understand the implication to our family’. To aid patients in making informed decisions and choices about their care, GPs should be able to communicate genetic information in an understandable and comprehensible way (GP-2b). This person-centred approach should also be extended to include an awareness by GPs of how genetic information impacts not only on the patient but also on their immediate and extended family (GP-2c).
Paul describes how two of his three adult children decided to undergo genetic testing straight away but the third only decided to be tested after his brother and sister had received their results and he realised the implications. This illustrates that GPs should be aware of the ethical aspects of managing patients and families with genetic conditions being aware in particular that patients and families may have differing views towards genetic information (GP-8b). Paul describes the feelings of guilt he felt when his daughter was diagnosed with FAP reminding us of the emotional impact a genetic diagnosis can have on a patient and their family, particularly associated with guilt about ‘passing on’ a condition (GP-8d). Following testing, Paul’s sons were found to be unaffected. In such cases, GPs should be aware that reassurance is the appropriate action for patients at population risk (GP-3f).
For conditions such as FAP, patients may chose to undergo surveillance procedures such as endoscopy. In providing a comprehensive approach to primary care, GPs need to ensure systems are in place to follow-up such patients (GP-4b). They should also be aware that preventative measures, such as colectomy for APC mutation carriers, exist for some genetic conditions (GP-4c).
Paul talks specifically about the need for health professionals such as GPs to have more knowledge and a better understanding of genetic conditions. GPs should be aware that genetics is a rapidly evolving area and appreciate the importance of keeping up-to-date with clinical advances and their implications on ethical debate and service planning (GP-9).
Learning Outcomes for Medical Students
Content relating to the learning outcomes in genetics for medical students will appear here shortly.