MSc (MED) GENETIC COUNSELLING
BY COURSEWORK AND RESEARCH REPORT.
Associate Professor and Genetic Counsellor
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
G ADDITIONAL COURSE DETAILS AND OPTIONAL EXTRAS ...........................................8
H ASSESSMENT OF STUDENT PERFORMANCE...............................................................10
J PROGRAMME AND STUDENT CERTIFICATION .............................................................12
K HOLIDAYS .........................................................................................................................12
L REQUIRED TEXTBOOKS...................................................................................................12
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
Mr Ronald Smart BSc Hons : Human Genetics
Cytogeneticist and genetic counsellor with over 30 years experience in Human Genetics
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.
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.
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
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-
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.
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  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
• 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.
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.
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.
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.
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
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
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
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),.
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
These 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 course
The 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.
Ad hoc tutorials and lectures on Human Genetics i.e. BSc (Hons) in Biomedical Sciences
programme at UCT
As 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.
All 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 Meetings
The 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.
Visits to specialist clinics will be arranged during the year. Students will be notified of the dates and
times once these have been confirmed.
Visits to community resources
At 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.
Students 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.
It 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
These 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.
5 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
In 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.
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 project
There 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
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
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% .
The fee structure is to be determined in accordance with the university guidelines for modular
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.
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 TEXTBOOKS
BAKER D, SCHUETTE JL AND UHLMANN WR,(1998) A Guide to Genetic Counselling", New
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”