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Microsoft Word - 7037bbs_3065_co

  1. 1. COURSE OUTLINE Academic Organisation: School of Biomolecular and Biomedical Science Faculty: Faculty of Science Credit point value: 10 Student Contribution Band: Band 2 Course level: Postgraduate Campus/Location/Learning Mode: Nathan / On Campus / In Person Convenor/s: Ms Madelyn Peterson (Nathan) Enrolment Restrictions: Restricted: Course must be listed in Program This document was last updated: 27 April 2006 BRIEF COURSE DESCRIPTION This 10 CP course builds upon the student's knowledge and experience acquired in the laboratory-oriented courses and extends student's knowledge and skills into the clinical environment. The causes and complications of genetic disorders will be presented in the context of diet and drug induction of symptoms and environmental protection capacity of particular mutations. The clinical assessment of genetic disorders will be described and will focus upon the interpretation of statistical information afforded by laboratory measurements and genetic calculations. The current treatments of genetic disorders will be detailed and the possibilities for the future of gene therapies will be discussed.
  2. 2. SECTION A – TEACHING, LEARNING AND ASSESSMENT COURSE AIMS Course Aims The aim of this course is for students to acquire knowledge of the genetic disorders, which are more commonly encountered by practitioners working in the clinical genetics discipline. This course focuses on the clinical presentation of genetic disorders as well as the associated diagnostic tests encountered in a genetic counselling environment. LEARNING OUTCOMES Upon completion of this course students will have an understanding of the: 1. Core knowledge of clinical genetics and associated skills essential for providing effective professional genetic counselling, as required by the certification board of the HGSA, including: • Medical terminology • Incidence and prevalence of genetic disorders, probability in genetics • Autosomal recessive, autosomal dominant & X-linked disorders • Non-Mendelian inheritance and multifactorial inheritance • Population genetics and genetic risk calculation • Inborn errors of metabolism and newborn screening • Neurogenetic disorders • Diagnostic dysmorphology • Cancer genetics • Cytogenetic and molecular DNA analysis • Prenatal screening by ultrasound scan and prenatal diagnostic testing • IVF and Pre-implantation Genetic Diagnosis • Clinical implications of the human genome project • Gene therapy; existing and projected • Clinical genetics, ethics and society (information literacy, critical evaluation, ethical behaviour in social, professional and work environments) 2. Diagnostic challenges of genetic healthcare (information literacy) 3. Teamwork required for effective professional genetic counselling practice (critical evaluation, effective communication, ethical behaviour in social, professional and work environments) The student will also be able to: 4. Evaluate and discuss a family medical health and genetic history (critical evaluation, analysis, effective communication) 5. Evaluate and discuss ethical issues in genetic medicine (analysis, critical evaluation, effective communication) And gain an understanding of professional challenges, such as: 6. Working relationships (effective communication, ethical behaviour in social, professional and work environments) 7. Conflicting ethical issues (critical evaluation) 8. Co-counselling (effective communication) 9. Calculation and communication of genetic risk estimates (analysis, critical evaluation, effective communication) CONTENT, ORGANISATION AND TEACHING STRATEGIES 1
  3. 3. This course builds on the skills and knowledge gained in the first semester, particularly the Advanced Human Genetics courses, and focuses on a range of genetic disorders encountered in genetic counselling practice. It also complements the genetic counselling courses 7084BBS and 7036BBS in developing student skills to the level necessary for the practice of effective professional genetic counselling as required by the accreditation Board of Censors of the HGSA. This is a core course of the 5080BBS program. The formal lecture and case based discussions are efficient methods for the delivery of essential resource material and they provide immediate opportunities for challenging discussion with the presenter in a small class format. These are also the usual methods employed for ongoing education within the profession. Contact Summary The course involves 21 contact hours, which consists of one 3-hour session per week for weeks 1 - 13 of semester 2. This course will be taught by formal lectures and case based discussions. Students are expected to attend all sessions. CONTENT SUMMARY The course content is both relevant and current for the practice of genetic counselling. These topics integrate theory and practice to provide the student with a sound foundation for the further acquisition of clinical skills. Week Lecture Content Readings 1. First Trimester Screening (Nuchal Translucency) Harper p.111 - 129 USS diagnosis of Neural Tube Defects. Prenatal diagnosis 2. AD: polycystic kidney diseases. Marfan AR: CF, Harper p.10 – 15, p.21 haemoglobinopathies, haemochromatosis. X-linked: FraX, – 47, p.321 – 329, X inactivation, carriers, Bayes Theorem 3. History of Medical Genetics, Medical terminology Risk appreciation, Ethics 4. Cancer Genetics. General principles. Retinoblastoma. Harper p.331 – 343 Genetics of common cancers: breast, ovary, bowel. Interpreting BRCA and HNPCC gene test results. Impact of gene patenting 5. Population genetics. Incidence & prevalence of genetic Harper p. 257 – 268, disease. Gene frequencies, Hardy-Weinberg equilibrium. p.33 - 37 Consanguinity & high risk populations Epigenetic regulation of genetic loci, dynamic mutations 6. Normal & abnormal development. Malformations, Harper p.87 – 97, p.301 deformations & disruptions. Teratogenic agents. Maternal – 303, p.308 – 311, disease & fetal development. NTDs, clefts p.345 - 354 7. Diagnostic dysmorphology: assessing the dysmorphic Harper p.87 – 97 child. Microdeletion syndromes 8. Neurogenetics. Diseases of the central nervous system & Harper p.161 - 207 spinal cord. Neuromuscular disease. Ethics 9. Chromosome analysis & abnormalities. FISH, Prenatal Harper p.61 – 76, diagnosis & Mosaicism. Terminology. Clinical interpretation of translocations. IVF & PGD 10. Sex chromosome abnormalities and disorders of sex Harper p.306 – 311, differentiation. Confidentiality & access to records. p.146 – 147, p.373 -374 Medical record keeping. 11. Non-Mendelian genetics. Imprinting & UPD. Harper p.313 – 319, Mitochondrial disease. p.26 - 27, p.75, p.47 – Metabolic disorders, Newborn screening 49, p.165 - 166 12. Genetics of deafness Human genome program Harper p.77 – 86, p.259 developments. Gene therapy. Ethics - 264 2
  4. 4. Week Lecture Content Readings developments. Gene therapy. Ethics - 264 13. Multifactorial inheritance. Genetics of common diseases, Harper p.51 – 59, p.203 susceptibility genes. Autism. Pharmacogenetics – 207, p.265 - 279 ASSESSMENT Summary of Assessment Item Assessment Task Length Weighting Total Relevant Due Day and Marks Learning Time Outcomes 1. Take Home Test 15% 15 1-6 Thursday of Week 11, 4pm 2. Counselling Skills 15mins 30% 30 7, 8 Week 13 during Assessment extra contact hours 3. Final Exam 180mins 55% 55 1 - 14 Scheduled End of Semester 1 Exam Period Assessment Details The take home test will examine student’s ability to apply analytical skills to clinical problems. The counselling skills task will test the student’s ability to present clinical genetic information verbally and the final examination will test the student’s ability to retain, analyse, problem-solve and present relevant information on specific genetic topics. Take Home Tests are to be submitted in hardcopy via Postgraduate Assignment Box 5, Level 1 Science 2 (N34). Detailed information relating to assessment items will also be posted on the 7037BBS Learning@Griffith website. Return of Assessment Items Students will be notified via Learning@griffith when assessment has been completed. Assessment items will be available for review or collection during the Convenor’s student consultation time (see below or Learning@griffith website for details). Otherwise marked assessments will be returned to students during contact sessions or, if completed after week 13, they may be collected from the office of Trish O’Keeffe, Postgraduate Liaison Officer, BBS school (N34_1.12) during office hours. Students may only collect their own assessment items. Assessments may be posted back to students when a self addressed stamped A4 envelope is provided. The course convenor is not responsible for non-delivery of mail. Notification of Availability of Feedback on Assessment Results of the Take Home Test will be returned to students by Thursday of Week 13 of Semester 2 and the Counselling Skills assessment results will be posted on the Learning@Griffith website Gradebook link by Friday of Week 14. Students may also make an appointment with the convenor to discuss feedback on assessment items. GRADUATE SKILLS Assessed Practised Graduate Skills Taught 3
  5. 5. Effective communication (written) Effective communication (oral) Effective communication (interpersonal) Information literacy Problem solving Critical evaluation Work autonomously Work in teams Creativity and innovation Ethical behaviour in social / professional / work environments Responsible, effective citizenship Professional Skills The course content has been designed, in accordance with the Human Genetics Society of Australasia training guidelines and in consultation with experienced genetic counsellors and clinical geneticists to facilitate the acquisition of knowledge and skills that are considered foundational for the student as a potential genetic counsellor. TEACHING TEAM Course Convenor Convenor Details Nathan Campus Convenor Madelyn Peterson Email Office Location N44_3.21 Phone 07 3735 5066 Fax 07 3735 7773 Consultation times Tuesdays 2-4pm Additional teaching team members Dr K. Gibson (Clinical Geneticist, Queensland Clinical Genetics Service) Dr M. Gattas (Clinical Geneticist, Queensland Clinical Genetics Service) Dr J. McGaughran (Clinical Geneticist, QCGS) Dr J. McGill (Metabolic Geneticist, Royal Children’s Hospital) Dr S. Withers (Clinical Geneticist, Griffith Medical School) Dr Stephen Sinnott (Radiologist, so+gi – Specialised Obstetric & Gynaecological Imaging) Dr Bridget Sutton (Radiologist, so+gi – Specialised Obstetric & Gynaecological Imaging) Ms J. Bryan (Cytogeneticist, Mater Hospital) Dr D. Sherrin (Embryologist, Queensland Fertility Group) Professor John Pearn (Geneticist, Medical Historian & Ethicist, University of Queensland) COURSE COMMUNICATIONS The course convenor will communicate regularly with students via the course website. Students should check Announcements on Learning@Griffith on a regular basis, as this will provide the major mechanism for communication with the student body for this course. Students are expected to attend face-to-face classes and interact with the lecturer within these times. Students will be encouraged to raise issues that require clarification at these contact sessions. The course convenor is available for student consultations on Tuesdays 2-4pm and it is recommended that an appointment during that time is confirmed by email. 4
  6. 6. Students are encouraged to make use of these consultation times to address concerns or clarify course requirements or teaching and learning issues. Students may also contact the course convenor via email. Students are advised to limit email communication to issues that require a short and definitive answer. If the issue requires discussion students are advised to visit the course convenor during consultation times. TEXTS AND SUPPORTING MATERIALS Prescribed texts Harper, P.S. (1998) Practical Genetic Counselling (5th Edition), Butterworth and Heinemann rd Kingston, H. (2002) ABC of Clinical Genetics (3 Edition), BMJ Books Recommended reading nd Gelehrter TD, Collins FS, Ginsburg D (1998) Principles of Medical Genetics (2 edition), Williams and Wilkins Other recommended readings, HGSA bibliography (p72-73 HGSA Guidelines for Certification in Genetic Counselling) Website: Further readings will be provided to students in lectures. SECTION B – ADDITIONAL COURSE INFORMATION Students should refer to the Learning@Griffith website for further information about this course, including referencing guidelines, further reading/additional references and assignment cover sheets, etc. 5
  7. 7. SECTION C – KEY UNIVERSITY INFORMATION ACADEMIC MISCONDUCT Students must conduct their studies at the University honestly, ethically and in accordance with accepted standards of academic conduct. Any form of academic conduct that is contrary to these standards is academic misconduct, for which the University may penalise a student. Specifically it is academic misconduct for a student to: present copied, falsified or improperly obtained data as if it were the result of laboratory work, field trips or other investigatory work; include in the student's individual work material that is the result of significant assistance from another person if that assistance was unacceptable according to the instructions or guidelines for that work; assist another student in the presentation of that student's individual work in a way that is unacceptable according to the instructions or guidelines for that work; cheat; (Cheating is dishonest conduct in assessment); plagiarise (Plagiarism is knowingly presenting the work or property of another person as if it were one's own.) Visit the University’s Policy on Academic Misconduct for further details. KEY STUDENT-RELATED POLICIES All University policy documents are accessible to students via the University’s Policy Library website at: Links to key policy documents are included below for easy reference: Student Charter Academic Standing, Progression and Exclusion Policy Student Administration Policy Policy on Student Grievances and Appeals Assessment Policy Examinations Timetabling Policy and Procedures Academic Calendar Guideline on Student E-Mail Health and Safety Policy UNIVERSITY SUPPORT RESOURCES The University provides many facilities and support services to assist students in their studies. Links to information about University support resources available to students are included below for easy reference: Learning Centres - the University provides access to common use computing facilities for educational purposes. For details visit Learning@Griffith - there is a dedicated website for this course via the Learning@Griffith student portal. Student Services facilitate student access to and success at their academic studies. Student Services includes: Careers and Employment Service; Chaplaincy; Counselling Service; Health Service; Student Equity Services (incorporating the Disabilities Service); and the Welfare Office. Learning Services within the Division of Information Services provides learning support in three skill areas: computing skills; library skills; and academic skills. The study skills resources on the website include self- help tasks focusing on critical thinking, exam skills, note taking, preparing presentations, referencing, writing, proof reading, and time management. 6