ASSIGNMENT Case Study:Disease Features Briefly describe the

ASSIGNMENT Case Study:
Helen and her husband are pregnant with their first child. Helen’s midwife asks about any family history of medical conditions. Helen had a cousin Roy with severe neurofibromatosis who had traumatic health problems including seizures, learning difficulties and grossly disfiguring swellings and lumps all over his body. He eventually developed malignant tumours and died in early adulthood. Roy’s siblings are all unaffected and Helen remembers they were all genetically tested and none had any mutations. Consequently Helen doesn’t feel she could have anything to be concerned about herself, being less closely related and never having had any major health problems of any kind. Nonetheless the midwife refers her to a genetic counselor, who discusses with Helen the possibility that she may also have neurofibromatosis even though she appears generally healthy. Helen decides to be genetically tested and is found to have the same mutation as Roy had. Helen and her husband decide to have a pre-natal test and the foetus is found to have inherited the condition. They reluctantly decide to terminate the pregnancy.

Helen’s sister Suzanne decides to see the genetic counsellor too. She has been attending an infertility clinic and is currently receiving clomiphene therapy to help her conceive. After testing she is also found to have the same mutation. She immediately discontinues the therapy as clomiphene greatly increases the risk of multiple pregnancies and she can’t face the thought of terminating several babies or of selective foeticide. She feels angry that the risk of neurofibromatosis has never been discussed with her prior to her infertility treatment.

Additional Notes
Two types of issues relating to genetic diseases are sometimes distinguished. ‘Direct issues’ relate specifically to the particular genetic disease under consideration whereas ‘indirect issues’ in this context refers to issues that are not directly tied to the specific disease per se but that affect people with genetic diseases in general.

For example, neurofibromatosis patients will face certain issues that are specific to neurofibromatosis and are not inevitably experienced by other people with different genetic diseases. Having neurofibromatosis itself might cause you a specific direct problem with job options because of physical disfigurement. That would be a direct consequence of having neurofibromatosis.

Completely independent of the specific direct problems you have from neurofibromatosis, you may also experience additional problems that may be experienced by people with a wide range of very different genetic diseases. These would be considered indirect issues. For example you might be considered unsuitable for a job because an employer does not want to employ anybody at all who has a genetic condition of any kind whatsoever (e.g. because they believe such people will take too much leave or will not perform well etc). These ‘indirect’ issues would not have anything to do with specific problems due directly to neurofibromatosis per se but would equally occur for genetic disorders of various kinds.
Assignment:
Discuss the following with respect to neurofibromatosis and using Helen’s family as an example:

• Disease Features Briefly describe the disease characteristics, including symptoms, onset age, prevalence, biochemical mechanisms (if known), treatment and any other factors you consider particularly relevant.

• Testing What tests are available for neurofibromatosis?

• Genetics Draw a pedigree for the family. Briefly discuss the inheritance pattern of neurofibromatosis. What are the risks of a person having the mutation if her cousin has the disease? Does it make any difference whether or not they are the same gender? What are the probabilities/risks that the children of this person will inherit neurofibromatosis? Discuss the difference between penetrance and expressivity using neurofibromatosis as an example. Is it possible to predict how severely affected a person with a neurofibromatosis mutation will be? What factors may influence this?

• Counselling Discuss how genetic counselling can assist families with genetic disorders in general, the roles it has played in this case study and how further genetic counselling may be able to assist Suzanne and Helen in the future. What options are available for Helen and Suzanne if they decide to try to have children in the future?

• Pharmacogenomics Is it reasonable for Suzanne to believe that she should have received more counseling about neurofibromatosis before commencing IVF therapy? It may help to consider whether the pharmacogenomics issue involving clomiphene therapy is a ‘direct’ issue or an ‘indirect’ issue and, related to this, whether it likely to arise often or be relatively rare. What are some of the main kinds of ‘direct’ pharmacogenomics issues that can occur for genetic disorders in general? Are there any other direct or indirect pharmacogenomics issues that you can think of that might need to be taken into account for neurofibromatosis sufferers and their families?

• Ethical, legal and social issues (ELSI) What are some of the ethical dilemmas that might confront this family in the future? What are some of the social and legal issues the family might encounter and what are some of the ethical and legal issues genetic counsellors need to consider in such situations? Are there potential ethical or legal issues involved for any other health professionals that you can think of? Try to include examples of both direct and indirect issues.

• Other issues Anything else you feel to be relevant to the issues raised by this case study.

ASSESSMENT: 15%

WORD LIMIT: 3000 words

SUBMISSION:

• Assignments should be submitted by 5.00pm Friday 8th August to the assignment submission box. An attached completed and SIGNED Coversheet form (available from the Course Document section of the PHAR 6123 Blackboard site) is mandatory for acceptance of the hardcopy version of assignments.

• An electronic copy of the assignments must be submitted to Turnitin via the link
on the PHAR 6123 site by 5.00pm Friday 8th August.

• Remove the questions and references before submitting to Turnitin.

NOTE THAT AN ACCEPTABLE TURNITIN SCORE IS REQUIRED IN ORDER TO RECEIVE A FINAL MARK FOR THE ASSIGNMENT

MARKING GUIDE:
• The assignment should demonstrate that the student can provide a concise and pertinent summary of the key aspects of a given disease and any relevant tests.
• The assignment should illustrate that the student is able to analyse the basic genetic aspects of a simple inheritable disease, including assessments of disease risks for family members and children.
• The assignment should also demonstrate understanding of the roles of genetic counsellors The pharmacogenomics component of this case study highlights some more unusual aspects of pharmacogenomics that are often overlooked or not recognised. It should be clear from the assignment that the student appreciates and understands the possibilities of indirect pharmacogenomics issues that may need to be taken into consideration.
• Finally the assignment should illustrate that the student understands the main ethical, legal and social issues that can affect patients with genetic conditions and their families.

It is expected that students will use information from journal articles (original as well as reviews) and not just from text books, websites or other secondary sources.

Marks will be broadly assigned according to the following guidelines:
Information content (75%): there should be a high level of information content and appropriate coverage of the 4 areas listed above. Highest marks (55-75) to the assignments demonstrating the greatest awareness and understanding of the issues involved. Average marks (35-54) for being able to state most of the key issues but not demonstrating good understanding of their deeper implications. Lowest marks (<35) for not demonstrating either awareness or understanding of the key issues.
Presentation : (10%) Issues and related implications should be clearly and succinctly summarized and examples (if possible related to neurofibromatosis) provided wherever possible. Highest marks (8-10) to those with good examples and clarity of presentation. Average marks (5-7) to those with examples and clear presentation for most issues. Lowest marks (<5) to those with limited clarity and poor examples.http://www.ukassignment.org/dxygassignment/2012/0207/19262.html
Research of topic (15%): For top marks (10-15) most referenced material should be review articles and original journal articles rather than text books. For average marks (6-9), the number of text book and other sources of information should not exceed the number of original and review articles. Lowest marks (<6) for assignments with the majority of references from text books and online sources.