Foundations of Clinical Practice examinations pre-release

Examination on 17 July 2013, 10.00 – 12.15

• Candidates are permitted to bring up to 10 sheets (20 sides, A4 size paper) of notes into the examination. Candidates are not permitted to bring laptops or textbooks into the exam.

Scenario for pre-release
You are an FY1. Your cousin, Joanne Moore, is 38 years old and has been trying for a baby for the last 2 and-a-half years and was overjoyed to find out recently that she is 6 weeks pregnant. However, this news coincided with the recent discovery that Joanne’s 4 year old nephew has been diagnosed with Duchenne Muscular Dystrophy (DMD). Elaine (Joanne Moore’s younger sister) found out 2 weeks ago that she is a carrier of the faulty gene and it is likely that their mother (now deceased) was also a carrier. Shortly after this Joanne makes an appointment to see her GP, Dr Bidwell, and discovers that DMD is a progressive muscular wasting disease which only affects boys. Sufferers usually die in their twenties.  Her GP tells her that the first step will be to find out if she herself is a carrier. Joanne Moore is seen in the medical genetics clinic of Northwick Park Hospital. The following week she is told that she is a carrier for the DMD gene defect. She telephones her older sister, Helen, who emigrated to New Zealand 5 years previously. Helen is unaware of the recent diagnosis of DMD in her nephew.

Helen has had a few failed relationships but has recently got engaged. She is 41 and wants to start a family as soon as possible. Helen tells Joanne that she does not want to know if she is a carrier for the DMD gene. She says she is fit and well and that she ‘does not want to be tied down by the findings of genetic tests’.

Following her positive test for DMD carrier status, Joanne Moore is referred to see her obstetrician. The obstetrician discusses two different types of prenatal diagnostic testing, chorionic villus sampling (CVS) and amniocentesis. He discusses the various risk factors associated with each.

Joanne Moore is worried about the risks the diagnostic tests present to her unborn child, an important risk being that of miscarriage (around 1-2% for CVS and 1% for Amniocentesis).

The obstetrician explains that they will also be able to test for Down’s syndrome as part of the prenatal testing. Joanne Moore has a godson with Down’s syndrome with whom she is very close. She feels uncomfortable about the idea of antenatal testing for Down’s syndrome. Joanne is very concerned and so she makes an appointment to see her GP again. 

After the second appointment with her GP, it is agreed that Joanne should go back to see a genetics counsellor to discuss the proposed antenatal testing for DMD and Down’s syndrome. Genetics counselling involves helping people make decisions about genetic illness when faced with difficult choices. The professional ethos of genetic counselling is to ensure that genetics information is delivered in non-directive way so that the individual is able to make a fully autonomous decision.  After the genetics consultation Joanne discusses everything with her husband. She explains to him how different her consultation with the genetics counsellor was when compared to her consultation with the obstetrician. She told her husband that she felt understood and felt more at ease with the issue of termination and did not feel that it was the only option.

Joanne decides to have an amniocentesis when she is 14 weeks pregnant. A week later her obstetrician tells her that her baby does not have DMD but does have Down’s syndrome. Joanne is in a state of shock. She tries to make an appointment with her usual GP. Unfortunately Dr Bidwell is on holiday for 3 weeks and Joanne Moore is booked to see Dr McGregor, another GP in the practice.

Joanne Moore tells Dr McGregor that she is not sure whether she can cope with a baby with Down’s syndrome. She tells Dr McGregor about her godson whom she is very fond of. However, she is already 38 years old and her partner is 48. She says she is worried about who would look after their child if they weren’t around.

A few weeks later Joanne Moore is having an urgent dating scan at the Chelsea and Westminster hospital. As the obstetrics registrar, Dr Ball, is scanning Joanne Moore he says that her dates are correct and that the fetus had a heartbeat, ‘but we’ll just have to wait and see if it will be ok.’ Dr Ball turns to the ultrasonographer and says under his breath ‘In this day and age you’d think that people would stop having such risky pregnancies’.

Reading:
Screening tests for you and your baby. 2012. DOH
http://www.nhs.uk/Conditions/pregnancy-and-baby/Documents/STFYAYB_72pp_Sept12-1.pdf

Ash, A and Barlevy, D. Disability andGenetics: A Disability Critique of Pre-natal Testing and Pre-implantation Genetic Diagnosis (PGD). 2012
http://onlinelibrary.wiley.com/doi/10.1002/9780470015902.a0005212.pub2/full      

Kong, WM and Dawson, A: Chapter 15 Ethical Issues in the Genetics of Complex Disorder [pdf], pp209-307 in ‘Neurogenetics of Stroke’ Sharma P. and Meschia J ed, Springer (2012)

GMC. Personal Beliefs and Medical Practice 2013
http://www.gmc-uk.org/Personal_beliefs_and_medical_practice.pdf_51462245.pdf

Herring, J: Conscientious objection [pdf] in Medical Law and Ethics 3rd ed, Oxford (2010), Chapter 6, section 10.11; pp298-299.

Sladden J. How to be a good relative.  BMJ Career Nov 2004
http://careers.bmj.com/careers/advice/view-article.html?id=521

Paling J, (2003) Strategies to help patients understand risks. BMJ 27; 327: 745-748.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC200818/ Select PDF format

S D Edwards. Disability, identity and the “expressivist objection”.  J Med Ethics 2004;30:418-420 doi:10.1136/jme.2002.002634
http://jme.bmj.com/content/30/4/418.full

Salinsky J. and Sackin P: What are you feeling Doctor? [pdf] Identifying and avoiding defensive patterns in the consultation. 2000 Radcliffe Medical Press, pages xv-xv111 and 37-8 and 45-55
This chapter is from a book that was written to describe the work done by a Balint group of doctors. The focus of the work was on the doctor's contribution in the study of the doctor-patient relationship, including doctors' defences. The work included the intellectual and emotional aspects of the doctor in the doctor-patient relationship. It crossed the divide between the personal and professional and was a new study at the time.

Thistlethwaite J.E. & Ewart B.R. Valuing diversity: helping medical students
explore their attitudes and beliefs.  Medical Teacher, Vol. 25, No. 3, May 2003, pp. 277–281
http://informahealthcare.com/doi/pdfplus/10.1080/0142159031000100346

Oliver R, M.J. (1998) Theories in health care and research: theories of disability in health practice and research, British Medical Journal, 317,pp.1446–1 449.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1114301/

Ethics and law course material:

1. Year 2 ethics on Blackboard  – load CE8 courses and click on Year 2 Medical Ethics (2011-12)
2. Year 2 Medical Ethics study guide 2011-2012
3. E-lectures: (i) consent, (ii) confidentiality, (iii) children, (iv) mental capacity act and select Ethics & Law.
4. Year 3 face-to-face lecture: consent, confidentiality and children: e-lecture programme
5. Background to clinical specialities face-to-face sessions: End of Life Law, Mental Capacity Act, Law quiz

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