MSc (MED) GENETIC COUNSELLING

BY COURSEWORK AND RESEARCH REPORT.

2006

Course Coordinator

Jacquie Greenberg PhD Associate Professor and Genetic Counsellor

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MSC (MED) GENETIC COUNSELLING

TABLE OF CONTENTS

SECTION CONTENT Page

A INTRODUCTION 3

B SIMILAR PROGRAMMES IN SOUTH AFRICA 4

C ENTRY REQUIREMENTS 4

D PROGRAMME DESIGN 4

E PROGRAMME AIMS AND ANTICIPATED OUTCOMES 5

F COURSE OUTLINE 6

G ADDITIONAL COURSE DETAILS AND OPTIONAL EXTRAS 8

H ASSESSMENT OF STUDENT PERFORMANCE 10

I FEES 12

J PROGRAMME AND STUDENT CERTIFICATION 12

L REQUIRED TEXTBOOKS 12

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MASTERS IN GENETIC COUNSELLING COURSE

Offered by the Division of Human Genetics, Department of Clinical Laboratory Medicine, in the Faculty of Health Sciences from 2004.

Course Facilitators : Associate Professor Jacquie Greenberg PhD : Human Genetics Molecular scientist and genetic counsellor with over 25 years experience in Human Genetics

jg@cormack.uct.ac.za

Mr Ronald Smart BSc Hons : Human Genetics Cytogeneticist and genetic counsellor with over 30 years experience in Human Genetics rs@cormack.uct.ac.za

Assisted by : Associate Professor Jennifer Kromberg PhD : Human Genetics : an invited lecturer from Johannesburg who helps on an ad hoc basis with the course. She comes to Cape Town for 2 weeks at a time, 3 times during the year. She established the counselling course at Wits and Griffith University in Brisbane, Australia.

A INTRODUCTION

Genetic counselling is a core activity in medical genetics, which is concerned not only with providing information to the patient and families but also with offering emotional support and counselling to assist individuals to adapt and adjust to the impact and implications of the genetic disorder in the family. This course extends over a minimum of two years (full-time) during which time the student will learn the principles and applications of medical genetics as well as the principles and practices of genetic counselling. At the end of two years the student should have sufficient practical experience to be a competent genetic counsellor. In addition, a research project will be undertaken in the second year and which will be written up as a dissertation [mini-dissertation] of a maximum length of 30,000 words. This will provide the student with an introduction to research methodology, research ethics, protocol writing and grant applications.

There is a major course-work component comprising tutorials, essays, case reports and experiential role-playing scenarios. The student will also learn to apply the acquired genetic information and skills through genetic counselling, while working under supervision. In addition, general genetic exposure will be gained by attendance at departmental meetings, journal club presentations, lay society meetings, scientific seminars, presentations at local conferences, educational meetings and community visits.

It is further envisaged that this programme will prepare genetic counsellors for clinical practice which will include education and management of patients as well as family care. It will also enable them to identify researchable problems, to conduct research and to promote the use of research findings. Post-graduates will be prepared for practising in a variety of settings where they will be equipped to provide leadership in speciality areas and initiate collaborative and consultative relationships within the health services at district, regional and national levels as well as in the private sector.

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This is in line with the National Health Plan and the development of the district health system. It is envisaged that qualified genetic counsellors will be able to take significant leadership and management roles, working closely together with clinical geneticists, thereby developing first world medical genetic services in Africa. There is the added potential that there will be qualified genetic counsellors with the ability to develop an evidence-based practice which could evolve towards doctoral studies in human genetics in the future.

B SIMILAR PROGRAMMES IN SOUTH AFRICA

An MSc (Med) in genetic counselling by coursework and research report is offered at the Division of Human Genetics, School of Pathology, National Health Laboratory Service (formally the South African Institute for Medical Research) and University of the Witwatersrand in Johannesburg. This course has to be followed by one year's internship at an accredited institution, approved of for this purpose by the Health Professionals Council of South Africa (HPCSA). It is envisaged that over time, it may be possible to facilitate sharing of modules between the two institutions offering these similar programmes.

The Universities of Cape Town, Stellenbosch, Free State, Pretoria, Witwatersrand as well as the Medical University of South Africa have programmes from which graduates with an MSc, MSc (Med) and MMed Sc can register as a genetic counsellor, after an appropriate 2 year internship. This internship has to take place in an accredited institution, approved of for this purpose by the HPCSA.

C ENTRY REQUIREMENTS

Minimum qualifications for this course:

BSc (Hons) (preferably in the biomedical sciences) or BA (Hons) equivalent in Social Work, Nursing or Psychology with a basic knowledge of genetics. Some students may be required to complete a prelearning programme and write an entry examination.

Alternate access and recognition of prior learning

MB Ch B ( for doctors who want to specialise in genetic counselling rather than clinical genetics)

A registered nurse and midwife who does not meet the requirements as set out above may be considered for admission if he/she has a four-year diploma in Nursing and Midwifery plus at least one post basic diploma and relevant experience. Such candidates will be expected to submit a full portfolio and curriculum vitae and supporting references, and may be required to complete a pre-learning programme.

D PROGRAMME DESIGN

The programme is modular in design and is residential for the course work components. Students will need to live within commuting distance of the University for the duration of the course work. In future, a distance programme could possibly be developed.

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It is envisaged that this programme will be interdisciplinary in nature for the core modules. Thus it is intended that the programme should have "module exchange" with other course-work master's programmes in the Faculty of Health Sciences, Department of Psychology, as well as the National Department of Health.

The programme will comprise four [4] teaching blocks, equivalent to two full courses, plus a dissertation [mini-thesis/research report] of a maximum of 30,000 words [body of dissertation] not exceeding 60 pages. A module might require qualifying or prerequisite modules and each course will consist of 2 blocks of about 40 contact hours each.

E PROGRAMME AIMS AND ANTICIPATED OUTCOMES

This programme is committed to two broad aims :

To provide academic and vocational training to medical and non-medical genetic counsellors which will enable them to work as professionals in SA, as well as be recognised internationally

To equip students with the necessary skills to enable them to contribute to research and the development of this new and evolving profession.

On completion of this course, students should be able to:

Establish an appropriate relationship with an individual and elicit and interpret that individual’s concerns

Understand and be in a position to interpret complex genetic information while at the same time, be able to convey the relevant genetic information to a client, appropriate to his/her needs

Facilitate decision-making as well as provide psychosocial support

Recognise and maintain professional boundaries at all times

Be conversant with the ethical framework of genetic practice in SA

Assume responsibility for contributing to the advancement of genetics services in SA and for contributing to improvement in the delivery of health care and influencing health policy

Provide leadership and management as well as teaching knowledge and competencies to influence the practice of genetics in SA

Incorporate theories and advanced knowledge into genetic management practice

Identify researchable genetic problems and conduct research studies in advanced genetic practice

Demonstrate understanding of the main approaches and paradigms – both qualitative and qualitative – in health sciences research as well as competence in the research process.

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F COURSE OUTLINE

There will be 2 core components to this course : I : Genetic Counselling Course (LAB505W and LAB506W) and II : Research Training and Research Report (LAB507W).

I The first component has 2 parts : I-1 and I-2 : I-1 Medical Genetics (LAB505W) I-2 Principles and Practices of Genetic Counselling (LAB506W)

I : LAB505W and LAB506W consists of discussions and tutorials given by clinical experts who focus on different genetic conditions/syndromes for the essential medical genetics component (I-1) and takes place once a year, for 2 weeks at a time (about 80 hours contact time per year). I-2 will include tutorials on the principles and practices of counselling and will introduce students to basic counselling skills and genetic counselling (again, about 80 hours contact time per year). Tuition for I-2 will involve discussions and experiential activities, rather than didactic lectures. Reading material will be provided in advance and the students will be expected to participate actively.

In summary, there will be 2 major teaching blocks a year, for 2 weeks at a time each (about 80 hours contact time per year per module), comprising tutorials/discussions and experiential role-playing scenarios. For the rest of the year the student will learn to apply the acquired genetic information and skills through genetic counselling, while working under supervision.

II : LAB507W consists of the research training and dissertation [mini-thesis/research report] of a maximum of 30,000 words, not exceeding 60 pages and the project needs to involve compulsory contact with patients/clients.

I GENETIC COUNSELLING COURSE : (LAB505W and LAB506W))

As this is a hands-on course, it is expected that students will be in the department during working hours to meet the requirements of their internship. They will be allocated desk-space in an area where computer facilities are available. They will attend all genetic clinics where patients/families are counselled, initially as observers, but later as their competence grows, as supervised counsellors. Each student will be allocated to a particular clinic/counsellor/genetic nursing sister. Teaching and mentoring takes place at the clinics and at post-clinic consultations. Students are expected to start writing counselling letters to patients from the beginning of the course, and to be present when telephonic follow-up is done with patients by counsellors/genetic nursing sisters. All students are expected to fulfil departmental duties allocated to them for the full duration of the course. It is expected that students will be counselling, under supervision after 6 months, on straightforward cases, and increasingly taking on complex cases. By the end of the course, students should be competent counsellors able to handle situations such as Advanced Maternal Age, previous pregnancy resulting in Down syndrome, Neural Tube Defects, positive triple screens, Mendelian inheritance, initial counselling for fetal anomalies and increasingly more complex cases as time progresses.

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Students are also expected to write four essays of 10-15 pages each.

Upon the completion of the course in genetic counselling the candidate should have developed the following skills and attitudes.

Skills : The purpose of the genetic counsellor is to provide information and support to families at risk of having, or individuals with, birth defects or inherited disorders. As genetic knowledge and the extent and sophistication of laboratory diagnostic procedures have expanded, so has the demand for genetic counselling and education to help families and individuals who have to deal with the many complex issues raised by genetic disease.

As clinical genetics is particularly time-consuming and requires extensive preparation, continued follow-up in addition to direct patient contact and disease management are being provided by genetic counsellors. These individuals have to be qualified professionals, trained to synthesise information and to develop the ability to communicate it clearly, non-directively, and without personal bias to people from different educational, socio-economic, cultural and ethnic backgrounds.

Attitudes :

To become a sensitive, non-judgemental and non-directive genetic counsellor, individuals must be able to recognise personal limitations and seek guidance and supervision where appropriate. They should also :

1. develop the ability to present information to patients accurately and non-directively and to explore options rather than advise.2. be willing to participate in educational activities for healthcare and other professionals as well as the lay public.3. become a self-directed learner.4. understand the significance of research and to participate in research projects where appropriate.

Genetic counsellors need to be trained to :

1. comprehend the medical facts, including the diagnosis, probable course of the disorder and the available management.

2. become sufficiently familiar with the components of a medical record in order to be able to find specific data and to recognise what is most likely to be pertinent to the genetic issues.

3. develop knowledge of medical terminology, format and content of medical and genetic histories.4. consult with a designated clinician regarding the subjects' medical data.5. recognise when referrals are appropriate both in relation to referral source and the nature of the

problem and to ensure that the patient understands the reason(s) for the referral.6. construct a pedigree appropriate to the genetic problem at hand, to calculate recurrence risks and to

recognise significant gaps in information and/or misinformation.7. carry out genetic counselling whilst working closely with a clinical geneticist and to draft summary

consultation letters to patients and referring physicians, usually under the guidance of a clinical geneticist.

8. become familiar with and to develop a working facility with a wide variety of sources of genetic data; e.g. birth defects atlases and other texts, audiovisual materials, computer-assisted diagnoses as well as current literature searches (Medline, Current Contents, McKusick Catalogue),.

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9. determine whether the client/family might benefit from contact with community agencies e.g. social services, specific genetic support groups, and be able to make appropriate referrals.

10. anticipate situations where follow-up on the genetic counselling session is required/advisable eg telephone calls, reminder of appointments, referral to other health care professionals such as social workers, psychologists, psychiatric clinics, family planning clinics, lay societies etc.

11. develop awareness and an understanding of the legal, moral and ethical issues in particular cases related to genetics in general and certain genetic tests and as well as genetic screening programmes.

12. work in a multidisciplinary team.13. be aware of current and developing technologies in all areas of genetics.

II RESEARCH TRAINING AND RESEARCH REPORT (LAB507W) :

A major goal of this programme is to train students to conduct research in the field of human genetics and genetic counselling. Towards this end, students will be trained and gain experience in working in an academic environment where they will be encouraged to develop, carry out and report on research. They will be required to produce a dissertation [mini-thesis/research report] of a maximum of 30,000 words, not exceeding 60 pages, towards the end of their second year of registration.

G ADDITIONAL COURSE DETAILS AND OPTIONAL EXTRAS

M.Sc. Tutorials/Lectures/DiscussionsThese will be in 4 main teaching blocks (March/April and July/August) ; 2 covering essential Medical Genetics and 2 on the Principles and Practices of Genetic Counselling. Each block will take place at fixed times, for a maximum of 2 hours at a time and are intended to be discussions rather than didactic lectures. An attempt will be made to co-ordinate the two modules but it may not always be possible.

Topics for the genetic counselling courseThe course as a whole will deal with all aspects of medical genetics which have relevance to future genetic counsellors. It will cover the clinical aspects of certain common genetic disorders, Mendelian and non-Mendelian inheritance, embryology, teratogens, risk calculation, population genetics, bioinformatics as well as tutorials and essays in cytogenetics, biochemical and molecular genetics. It will also cover prenatal diagnosis and the laboratory techniques used in medical genetics (diagnostic tests and genetic screening programmes). The course will also deal with the principles and practices of genetic counselling. The theoretical component will include tutorials on the principles and techniques of counselling, communication skills, social, cultural and ethical aspects of genetic disorders. Topics will include basic skills in obtaining a family history, making counselling assessments, dealing with death and dying, grief counselling, awareness of value systems, understanding human behaviour and feelings, developing an awareness of self and others as well as, ethical and medico-legal issues such as termination of pregnancy, reproductive options and adoption, the issues of genetic screening vs diagnostic testing. The practical component will include ‘hands-on’ psychology fundamentals as well as genetic counselling training, with case reports, and counselling assessments.

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Ad hoc tutorials and lectures on Human Genetics i.e. BSc (Hons) in Biomedical Sciences programme at UCTAs this is a MSc course, students are expected to have a background in Human Genetics. However, it is not obligatory to have Human Genetics Honours as a qualifying degree for this MSc course. Students who have other qualifying degrees may wish to attend the lectures and tutorials given by members of the Division of Human Genetics in the MBChB course, Department of Health courses for Genetic Nursing sisters as well as the BSc (Hons) in Biomedical Sciences course to enhance their core knowledge in human genetics, where these tutorials/lectures fit in with their schedules.

Topics for the Techniques Course A five week techniques course is offered as part of the BSc (Hons) programme in the Biomedical Sciences. Students who have no laboratory experience must attend this course which will cover general laboratory practice and include :

Tissue/Cell Culture and Histology, Cytogenetics :- chromosomes and nomenclature, amniocentesis, tissue culture, karyotyping, FISH analysis, and chromosome banding techniques. Molecular Genetics : - PCR and mutation detection techniques.

SupervisionAll students will be expected to attend 1 hour individual supervision a week for various aspects of genetic counselling. At six monthly intervals the supervisor will meet with each student to discuss progress and to provide feedback. The aim of supervision is to provide opportunities for students to review their patient interventions objectively, and to seek opinion from a mentor. The process is designed to be supportive and instructive for the student rather than judgmental or critical.

General Departmental events as well as Support Groups MeetingsThe official Human Genetics Journal Club is at 11am on a Monday morning ; the objective is to keep staff and students up to date with research and academic developments. It is a forum for general discussion and learning. Students are expected to attend and to present at this forum during each year.Human Genetics/Health Sciences Seminars, technical journal clubs as well as informal discussion groups are expected to be attended on a regular basis, where these fit in with the students' schedules.The Southern African Inherited Disorders Association (SAIDA), Retina South Africa (RSA) and Muscular Dystrophy Foundation (MDF) - students are expected to attend support group meetings once every two months and write at least one article for the SAIDA or RSA or MDF newsletters per year.

Genetic Counselling Clinics The Human Genetics clinical personnel attend genetic clinics regularly with occasional follow-up of patients at other times and students need to attend as many of these as possible. Clinics take place on a Monday afternoon, Tuesday morning and afternoon, Wednesday morning and afternoon and every first Thursday morning of the month and the first Friday morning of the month. They will learn skills and techniques in counselling, initially by observation and then by doing their own interviewing and counselling. They will attend a case consultation meeting that takes place on a Monday morning at noon and present their cases, informally, there too.

Specialist ClinicsVisits to specialist clinics will be arranged during the year. Students will be notified of the dates and times once these have been confirmed.

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Visits to community resourcesAt least six community resources should be visited (could include community outreach clinics, specialised schools and institutions) and brief written reports must be submitted following these visits.

EssaysStudents are expected to write 4 essays in total, of 10-15 pages each, on topics assigned by the tutor/lecturer responsible, during the course of the two years.

Log booksIt is essential to keep a record of the patients seen, including name, date of birth, age, referring diagnosis, final diagnosis, counselling undertaken and student’s role with the patient (observer or counsellor). It should be signed on a weekly basis by the clinician/counsellor involved with the case.

H ASSESSMENT OF STUDENT PERFORMANCE

Course work, essays, case reports and project reports all count towards assessment of taught modules. Students are expected to attend all taught sessions. Any students whose performance is not satisfactory, could be required to withdraw from the course. The log of all cases seen, that has been signed on a weekly basis by the clinician/counsellor involved with the case, will also be assessed at the end of the course.

Counselling assessmentsThese will assess genetic counselling skills and will take place during the latter part of the first year and then again in the second year of the course. Students will be assessed in a counselling situation, at least two of which will be with actual patients and the rest might be in a role-playing scenario.

Case reports5 case reports will be prepared and submitted to the supervisor/s over 2 years. The cases for reporting will be selected at the genetic clinics, and the students will be required to prepare the reports according to the specified format. These reports will be marked and will contribute to the year mark for the counselling course.

Due PerformanceIn order to qualify to write the final exams, a DP is required. At least 80% attendance at all activities is required to obtain a DP. For the Principles and Practices of Genetic Counselling module, a minimum average of 50% per year is required for the counselling assessments in order for a student to pass. There will be 2 assessments in the first year of study and 2 assessments in the second year. Students who do not pass this component of the programme will not be permitted to write the final examination.

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Examinations

Genetic Counselling Course : : One exam will be written mid year and 2 at the end of the first year on the Medical Genetics components. - 80%Four essays will be written during the first year - 20%

A viva will take place at the end of the first year and the student must pass to proceed to year two.The theory around genetic counselling will be evaluated as a written exam (2 exams) at the end of year two – 35%There will be 4 assessments in total. A minimum average of 50% is required/year – 35%Year mark : Log book : At least 100 cases – 10% Year mark : 5 case reports – 10%Year mark for letter writing, administration and patient follow up – 10%A viva will take place at the end of the second year related to the genetic counselling assessments as well as the medical genetics component.

Dissertation on research projectThere is a supervised research project on an original topic acceptable to the student and supervisor in the field of medical genetics and genetic counselling. Students are encouraged to develop and plan a project reflecting their own interests but the ongoing research work in the Division of Human Genetics should be taken into account when the projects are considered. This will be submitted as a mini-dissertation/research report at the end of the 2nd year of the programme and will be examined according to the guidelines for post-graduate courses [two examiners, at least one external to the university].

The student will be expected to use their acquired skills in medical genetics and counselling to carry out this project. It is intended that the practical aspect of the project will be completed in the first 8 months of the second year. Ethics approval will need to be obtained through the UCT Research Ethics Committee (URC) before the commencement of the project. A suitable project proposal will therefore have to be submitted in time for the November meeting of the URC, during the first year of the course. A detailed protocol for the project will need to be submitted for approval to Departmental Research Committee before the proposal goes to the URC and finally, the Higher Degrees Board of the Faculty of Health Sciences needs to approve the project.

The project will be written up in a form approved of by the supervisor and will be submitted for examination not later than 12 months after completion of the course work in the second year. The dissertation/research report will be of a maximum of 30,000 words (body of dissertation, excluding references), not exceeding 60 pages. The dissertation will make up 34% of the final mark and the research proposal should be submitted to the UCT research committee by the end of the first year of the course and the research will take place in the second year and make up 50% of the course in the second year.

Students will be expected to give an oral presentation of their research project to the Division of Human Genetics in the second half of year two, as well as to the Post Graduate Students forum at UCT once their project has been completed and the written mini-dissertation/research report has been submitted.In summary : the two components each make up 33% of the final mark (total of 66%) and the written dissertation makes up the remaining 34% .

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I FEES

The fee structure is to be determined in accordance with the university guidelines for modular programmes.

J PROGRAMME AND STUDENT CERTIFICATION

Qualified genetic counsellors have to register with the HPCSA in order to practice in SA. The requirements are the successful completion of the MSc(Med) degree and two years practical experience in genetic counselling, under supervision. One student year may be included in this requirement and so genetic counsellors with a MSc in Genetic Counselling are required to complete one further post qualification year of practical genetic counselling, under supervision, in order to register. The training provided during these 2 years must be under the supervision of a Genetic Counsellor or a registered Clinical Geneticist as outlined in the registrations requirements laid down by the Professional Board.

The intern genetic counsellors are expected to attend approved genetic counselling clinics where they will learn the skills, techniques and facts required for genetic counselling. Altogether 200 counselling consultations should be seen and documented ; these must represent a wide spectrum of genetic conditions and various modes of inheritance. A log book has to be presented for assessment at the end of the 2 years (or one year in the case of a MSc in Genetic Counselling graduate but some of the cases could have been seen during the course of the Masters course).

At all times it must be noted that genetic counselling is a profession and as such, whenever genetic counsellors are at clinics or booked to see clients, their dress and conduct should be appropriate for their professional status.

K HOLIDAYS

There will be a 2 week break in July/August when there will be no tutorials and students are not required to be in the Division during that time. There will be a 2 week break in December from the 16 th

till the first working day in January. Study leave can be given at the discretion of the supervisors of the students but clinic attendance is mandatory throughout the year.

L REQUIRED TEXTBOOKSBAKER D, SCHUETTE JL AND UHLMANN WR,(1998) A Guide to Genetic Counselling", New York, Wiley-Liss, HARPER PS (1998) Practical Genetic Counselling.5th ed. Oxford, Butterworth Heineman.WEIL Jon (2000) Psychosocial Genetic Counselling Oxford University Press. THOMPSON AND THOMPSON (2001) Genetics in Medicine 6th ed. Harcourt Publishers Ltd. PRITCHARD D AND KORF B (2003) Medical Genetics at a glance. 1st ed . Blackwell Science Ltd. EGAN Gerard “The Skilled Helper”

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