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I get on with my life as normally as I can: inherited bowel cancer

Joanna’s diagnosis of attenuated Familial Adenomatous Polyposis (AFAP), and the implications for her family.

A diagnosis of attenuated familial adenomatous polyposis (AFAP), an inherited form of bowel cancer, was eventually made in Joanna’s family after she was found to have multiple polyps and subsequently searched for information herself and requested specialist help. As well as having to come to terms with the implications for her own health, her story reflects her motivation to obtain a definitive diagnosis and to ensure her family were also aware of the implications to their health.

Toolkit

  • reflection Point for reflection

    1. Joanna describes how "upset and worried" she felt and says "All this time I had had no counselling on AFAP - no-one even admitted the possibility that I could have the disease". Consider how Joanna must have felt trying to come to terms with the diagnosis and the implications for her own health, and also that of her family. Think about what the social and psychological implications of having, or being at risk of, a genetic condition such as FAP might be. How might you be able to support someone like Joanna?
    2. Joanna’s story reminds us that lay beliefs about inheritance can be strong. For example, Joanna’s half-sister Carol believed she wasn't at risk because she ‘took after her father's side of her family’. It also highlights the importance of not jumping to conclusions about who is affected; although Joanna’s cousin George had symptoms, he was later found not to be a gene carrier.

    Reflect on your experiences as a healthcare professional. Have you encountered a situation where an individual or family have held strong lay beliefs about inheritance? How did you deal with this? Consider what you might be able to do to support an individual or family in this situation.

  • Activities Activities

    1. Re-read the story and from the information given by Joanna, draw her family tree noting down on it any information you think might be relevant clinically. Also note down any other relevant questions you think a healthcare professional might wish to ask about her family’s history.
      • To learn how to draw a family tree or to refresh your skills, go to the Taking and Drawing a Family History serieson the NHS National Genetics Education and Development Centre website.
      • The website also has a series of worksheets which can be used to practice drawing pedigrees using family history information.
      • Once you have had a go at drawing Joanna’s family tree, see below for an example of the family tree and suggested further questions.
    2. Work through the bowel cancer clinical scenario on the NHS National Genetics Education and Development Centre website.
    3. Using the resources signposted in the further information section below:
      • Find out how FAP can be inherited and which gene(s) are involved.
      • In addition to the presence of multiple polyps, what are some of the other clinical features of the condition? How does ‘classic’ FAP differ from ‘attenuated’ FAP?
      • To find out more about FAP, read the following journal article by Half et al 2009; Orphanet Journal.
    4. Joanna describes how “a blood sample was taken and sent off for genetic sequencing” and a gene change was subsequently found in her brother’s DNA confirming the diagnosis of FAP.
      • Read the factsheet entitled >variations in DNA and their effectson the NHS NGEDC website.
      • Go to the Wellcome Trust and the US National Library of Medicine websites to find out more about DNA sequencing and how it is carried out.
      • Test Yourself: Listed below are the basic steps involved in the technique of DNA sequencing. Arrange these in the order that they would be carried out in the laboratory:
        • (a) Carry out DNA sequencing reaction using fluorescently labelled nucleotides.
        • (b) Analyse sequencing results and prepare laboratory report.
        • (c) Separate fluorescently-labelled DNA strands according to their size on a gel (gel electrophoresis) and detect fluorescent signals using a laser.
        • (d) Receive and log patient DNA sample.
        • (e) Amplify the section of DNA to be sequenced by polymerase chain reaction (PCR) to produce many copies for sequencing.
    5. Following her brother’s diagnosis, Joanna visited her GP to request genetic testing. If you were a healthcare professional in this situation, would you know where to obtain referral guidelines for individuals with a family history of a particular type of cancer such as bowel or colorectal cancer; would you know how and where to refer a patient to genetics services; would you know where to find accurate information on what genetic testing might be available?
      • Some of the regional genetics services have referral guidelines which you might find helpful to refer to (some examples include Cancer Genetics Service for Wales; West Midlands Regional Genetics Service; Cheshire and Merseyside Clinical Genetics Service).
      • The British Society for Human Genetics has a directory of regional genetics centres on their website.
      • The UK Genetic Testing Network (UKGTN) website has information for health care professionals, commissioners of services and members of the public seeking non-clinical information about genetic testing services. It includes a range of information about the structure and remit of the UKGTN, and a searchable database of UKGTN laboratories with the relevant tests they provide.
  • quotes Quotes to reflect upon

    "I had noticed a little blood in my stool which happened two days running and then went away...... However, this set alarm bells ringing with my GP and he faxed the colorectal team at my local hospital".

    "At the colonoscopy it was found that I had multiple polyps....I came home clutching a booklet I had been given about polyps in the bowel. This told me that that it was unusual to have more than two polyps and very rare to have more than five. I looked up multiple polyps on the internet. I saw that multiple polyps in the colon were connected to genetic disease. This was the first time I had heard of Familial Adenomatous Polyposis".

    "The consultant informed John that the polyps showed severe dysplasia. He almost certainly had attenuated FAP and would need to have his entire colon removed to avoid bowel cancer....I visited my GP to request genetic testing. This GP was most unhelpful. He seemed not to listen to any of my concerns about myself in the light of my brother and made comments like “just because your brother has this it doesn’t mean you have it too".

    "All this time I had had no counselling on AFAP - no-one even admitted the possibility that I could have the disease. I had turned to the internet for information and became an expert on the subject".

    "I also expressed my concerns that I had to request gene testing myself from my GP even after informing him about my brother’s diagnosis, that I had no-one with whom to discuss this disease and its implications and that I was not asked about other family members".

  • Further Information Further Information

How does this story relate to professional practice?

  • cogs Nursing Competencies

    [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]

    One of the main issues in Joanna’s story is the importance of healthcare professionals being able to identify clients who might benefit from genetic services and information, including recognising the importance of family history in assessing predisposition to disease, recognising the key indicators of a potential genetic condition and taking appropriate action to obtain expert help and support from genetics specialists (NCG1).

    Joanna’s brother, John, underwent genetic testing which identified a gene change and confirmed the diagnosis of FAP. Subsequently, Joanna was tested and says "confirmation that I also had the mutated gene took only two weeks". Her story illustrates the importance of understanding the uses of genetic testing, and also the impact that genetic testing and genetic information can have on an individual and, as in Joanna’s case, on her extended family (NCG 5).

    Joanna says "all this time I had had no counselling on AFAP - no-one even admitted the possibility that I could have the disease. I had turned to the internet for information and became an expert on the subject". This quote not only highlights that there was a lack of support for Joanna in helping her to come to terms with the psychosocial consequences of her genetic condition, but also reminds us that the ongoing care needs, and the expertise of patients with enduring genetic healthcare needs should be recognised (NCG 8).

  • cogs Midwifery Competencies

    Content relating to the midwifery competencies in genetics will appear here shortly.

  • cogs 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

    Whilst the GP made a prompt referral to the colorectal team for further investigation based on Joanna’s clinical symptoms, he failed to recognise that she (and other family members) was at risk of having an underlying genetic condition even though her twin brother had subsequently been diagnosed with AFAP. Joanna says "I had to request gene testing myself from my GP even after informing the local consultant about my brother’s diagnosis...I was not asked about other family members". This highlights clearly the importance of healthcare professionals being aware of the importance of taking a family history (GP-3b) and being able to use family history and knowledge of inheritance patterns to identify those patients with, or at risk of, a genetic condition (GP-1c).

    Joanna’s brother was genetically tested and diagnosed with FAP before Joanna. She was finally referred to a geneticist who "was delighted with the family tree and was 99½% certain that I had FAP". She was subsequently referred to a specialist consultant and says "confirmation that I also had the mutated gene took only two weeks". The above points not only demonstrate the importance of making appropriate referrals to genetics services for specialist help and advice (GP-1e; GP-1g), but also remind us of the uses (and limitations) of genetic testing (GP-3e). In this case, a gene change had already been identified in Joanna’s brother; however, it is important to remember that it is not always possible to determine the underlying cause of a genetic condition (GP-6c).

    In a situation such as Joanna’s, it is important for GPs to be aware of the need to ensure that systems are in place to follow up patients who have, or are at risk of, a genetic condition and have chosen to undergo regular surveillance (GP-4b) for example: endoscopy for colon cancer; also to be aware that preventative measures exist for some genetic conditions (GP-4c) for example colectomy for APC mutation carriers.

  • cogs Learning Outcomes for Medical Students

    We have linked this story to the learning outcomes in genetics for medical students based on curriculum statements developed in 1990 and 1996 and published in ‘Teaching Medical Genetics to Undergraduate Medical Students’ (British Society for Human Genetics/Joint Committee on Medical Genetics, 2003; www.bshg.org.uk/documents/official_docs/Undergrad.doc).

    Several of the healthcare professionals that Joanna encountered failed to make the connection between her clinical symptoms and the possibility that she, and other family members, might be at risk of inherited bowel cancer and did not ask her about her family history. This highlights the importance of healthcare professionals being able to identify patients with, or at risk of, a genetic condition, and specifically, being able to take and interpret a family history and being aware of examples of clinical indicators that suggest an inherited predisposition to cancer (MS3).

    Her story provides an example of the uses of genetic testing, and also highlights the importance of recognising when it is important to obtain genetic information and advice and knowing when and how to make relevant referrals to specialised genetics services (MS5; MS6).

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