Informational video on Prenatal Testing for Down Syndrome

An informational video on Prenatal Testing for Down Syndrome has been released for distribution. The video is a joint product of the University of Stellenbosch and the Down Syndrome Association, Western Cape, South Africa.


The video is essentially a  decision-aid to be used as a tool to assist pregnant couples in making decisions within the prenatal setting. It is to be used in conjunction with comprehensive genetic counselling.

It provides a detailed description of Down syndrome and the experiences of parents raising a child with this condition. It also explains the invasive testing procedures including amniocentesis, cvs and cordocentesis.


A decision- making tree is presented in order to inform the women or couples of the outcome of each decision.

The DVD is currently available in Afrikaans, English and Xhosa.

The script for this video was developed using guidelines for prenatal genetic counselling as well as information gathered from several focus groups. Parents raising a child with Down syndrome and health care professionals were included in the focus group discussions. The video was launched as a decision-aid in clinics and patients were asked for feedback before making the final edits.


Patients and counsellors have found it extremely helpful. Patients feel it is easy to understand and gives them a real idea of Down syndrome and testing. The only caution is that watching the DVD should be a choice as some couples have opted not to watch it. It must also be used in conjunction with comprehensive genetic counselling.

For further information about the video contact:

Dr Mike Urban, email: urban@sun.ac.za. or Ms Chantelle Scott, email: chantelles@sun.ac.za

Add your voice to the ASAP 56 survey: towards a screening program for late-onset cancer or cardiovascular syndromes

ASP 56 cancer genetics survey image

Would you like to know if you carry a gene that increases your risk of cancer or heart disease?

You are invited to participate in the Adult Screening Anticipatory Program (ASAP) 56 online survey for both healthcare providers as well as the general public.

When conducting clinical Whole Exome or Genome Sequencing, there exists the potential for discovering incidental or secondary findings. Incidental or secondary findings are defined as genetic variants that are unrelated to the initial reason for testing, but that may, nonetheless, have some bearing on the health of the individual. The American College of Medical Genetics and Genomics (ACMG) appointed a Working Group on Incidental Findings in Clinical Whole Exome and Whole Genome Sequencing and established a set of recommendations regarding responsible management of incidental findings.1 The recommendations included a list of 56 genes that predispose individuals to either late-onset cancer or cardiovascular syndromes.

We are interested in understanding healthcare providers’ perspectives on the development of a screening program for these 56 genes compared to the general public’s understanding and opinion.

Healthcare providers included are medical geneticists, genetic counselors, genetic epidemiologists, population geneticists, nurse practitioners, physician’s assistants (PAs), geriatricians, internists, cardiologists and oncologists.

Participants must be 18 or older to participate in the survey and all surveys will be de-identified. The survey consists of a set of 39 questions designed to accomplish the specific aims of the project.

Please click here to start the ASAP 56 survey.

The survey is being conducted under the auspices of The University of Oklahoma, Health Sciences Centre.

Literature cited:

  1. Green, R. C., Berg, J. S., Grody, W. W., Kalia, S. S., Korf, B. R., Martin, C. L., … Biesecker, L. G. (2013). ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genetics in Medicine : Official Journal of the American College of Medical Genetics, 15(7), 565–74. doi:10.1038/gim.2013.73

Principles of Genetic Counselling: Course work at UCT

The University of Cape Town, Division of Human Genetics is offering a 6 month part-time (10 credits, ~ 20 CPD points and optional ethics CPD points) course on the “Principles of  Genetic Counselling: Course work”  starting in July 2013.
This course will involve participants actually physically being on the UCT HSF campus in August;  from the 5th to the 21st,  for a few hours a day.

The plan is as follows: this course was originally a one year course (Principles of Genetic Counselling, 20 credits)  which will now be split into two semester courses to accommodate occasional students.
The other semester course is optional (Principles of Genetic counselling: Applied Learning) and will be run in the second semester of 2014.

The above mentioned 10 credit course forms part of the MSc Genetic Counselling programme which consists of:
Principles of GC: course work                                     (10 credits)
Principles of GC: applied learning                              (10 credits)
Medical Genetics                                                             (24 credits)
Genetic Counselling Practice                                       (40 credits)
Dissertation                                                                        (  6 credits)

What is new, is that the UCT Division of Human Genetics is now offering a 6 month, 10 credit course as a stand-alone course for personal development of Healthcare Professionals, starting in July 2013.

Following registration on July 1st, registrants will be given access to Vula (a UCT-based closed /restricted access online facility), where reading materials, lectures and assignments will be posted on a regular basis.

We will be physically running this course (face-to-face) at the Division of Human Genetics:

Monday (5/8/2013) to Friday (16/8/2013) (two weeks)  1.30pm to 5.00pm.

In addition, the Communication Skills workshop presented by the Palliative Care Division will running at Health Science Faculty (HSF):

Monday (19/8/2013) to Wednesday (21/8/2013) 9.00am – 15.00pm.

This part of the course will cover general communication skills theory and will include workshops.  It will also include communication with children as well as loss, grief and bereavement.

In addition:
There will be online assessments/tests on Vula, both on the pre-reading matter, which will be uploaded and accessible from July 1st, as well as on the lecture content during August (3 tests) which will be covered in the 3 weeks face-to-face period (5-21 August).  From September till November there will be various assignments and assessments that will need to be completed via Vula (online) which will make up 20% of the final mark, together with the test marks.  Then there will be a final written exam (3 hour) in November 2013 (date still to be confirmed) which will make up 80% of the final mark and for which the participants will need to obtain a 50% pass mark in order to be issued with a certificate indicating that they have successfully completed the course for which they will receive 10 credits from UCT, in January 2014.

During the 6 month period, (July till December 2013) participants will be registered as “occasional students” at UCT,  HSF and will have access to various facilities on the Health Sciences Campus; there will be on and off site access to the Medical Library, regular email notification of lectures on campus and registered students will also have access to and be able to attend CPD accredited  lectures and courses. These could also include CPD accredited lectures/workshops for which Ethics related CPD points will be issued. These will not necessarily be in our Division but the CPD points are issued by the HPCSA and not UCT so it does not matter where they are acquired from.

Broad course outline:
Genetic counselling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease.  This process provides individuals and their families with information about genetic conditions, availability of diagnostic testing, and risks to other family members within a framework of non-directive counselling and ethical principles.

Aim of the course:

Participants will be able to broaden their knowledge of the principles of Genetic Counselling and be given the opportunity to apply the theory that supports Genetic Counselling, in practice.

Course outcomes:

* Describe the purpose of genetic counselling;
* Describe the structure of a genetic counselling session;
* Describe and critically evaluate the range of genetic counselling techniques used in practice;
* Describe the scope of genetic counselling;
* Perform risk assessment of inherited disorders;
* Pedigree drawing;
* Communication skills;
* Discuss ethical considerations in the field of Genetics;
* Discuss different settings in which Genetic Counsellors practice.

The cost of this 6 month part-time course will be about R 5,200.00

Applications for this new UCT course in Genetic Counselling: Course work need to be submitted as soon as possible (course code MZ002LAB09).
Application forms are available from our postgraduate office and the contact person there is Ms Salega Tape at salega.tape@uct.ac.za  Phone 0214066340/6751.
It is she who will be able to tell you about the actual cost of the course and other admin related details.

Course co-ordinator:

Prof Jacquie Greenberg

What it takes to be a Genetic Counsellor in South Africa: Interview with Frieda Loubser

People choose careers for all sorts of reasons depending on what matters most to them and what captures their attention. Skills however are just as important as the right attitude for a certain kind of role and some jobs are simply not for the faint-hearted as is the case of a career in Genetic Counselling.

We have spoken to Mrs Frieda Loubser about her role as Genetic Counsellor in the Western Cape, South Africa to obtain an insider’s view.

What is Genetic Counselling?

Genetic Counselling is unlike most other health science professions involving genetics because it does not entail working at the bench in the lab although a background in the science is critical. Patients are usually referred for counselling by a medical practitioner or health professional.

The profession of Genetic Counselling involves working with individuals and/or families who have genetic diseases or who are at risk for such a disease, or those who want to understand their genetic history and what risks they or their offspring may have of being affected by an inherited disease.

The counselling process involves compiling an accurate pedigree (depicting relevant family medical history), providing genetic testing where necessary, interpreting and explaining results, and supporting families or individuals to cope with results that may be difficult to process.Genetic conditions include birth defects, deafness, mental retardation, sickle cell anaemia, Huntington disease, Downs Syndrome or cancer.Besides support,Genetic Counsellors provide patients and their families with information about their condition, identify resources to assist the family and help them make informed decisions.

An accurate assessment of the risk of genetic disease is an integral part of the genetic counselling process and the counsellor’s skills therefore include risk calculations based on the mode of inheritance of the condition and the family history.

Genetic counsellors play a critical role in educating individuals about genetic diseases and how genetics influences their lives.

Frieda Loubser website photo

Photo: Frieda Loubser, Genetic Counsellor in South Africa

Why did you decide on this career on how are Genetic Counsellors trained in SA?

Frieda Loubser was one of the first students to graduate with an MSc degree in Genetic Counselling in South Africa.

“If you have a keen interest in science and genetics in particular, but you would like to work with people, genetic counselling is an intellectually challenging, interesting and rewarding career” says Frieda.“It can be an emotionally demanding job, but it is also very satisfying to support a patient/couple/family to make informed choices and adapt to their own challenges”.

Training is currently provided as a Masters degree at the University of Cape Town and at the University of the Witwatersrand.  The training involves course-work over two years, as well as being immersed in clinical exposure at teaching hospitals, and then a research dissertation in an area pertinent to genetics and genetic counselling in particular.  Upon graduation, the student is expected to do a year’s internship, before formal registration with the Health Professions Council of South Africa (HPCSA).

Many counsellors have joined the training programme (at UCT) after a BSc degree and Honours degree in Genetics.  However, those with psychology as part of their undergrad and postgrad may be at an advantage.  There is a move to consider attracting more trainees with subjects in the humanities.

How do you feel about your job security?

Currently, there are no Department of Health Genetic Counselling posts in the Western Cape.  Frieda has been employed on an annual contract basis for 6 years through different funding sources. She currently works part-time at the historic Groote Schuur and Red Cross Children’s hospitals and is one of the few Genetic Counsellors in private practice. Her practice is based at Christiaan Barnard, Panorama and UCT Private Hospitals.

Not all health care practitioners know of the profession or the role that genetic counsellors can play as a complimentary service to their medical management.  Kwazulu-Natal is the only province with a Department of Health genetic counselling post.  Genetic Counsellors in Gauteng are employed by the National Health Laboratory Services.

The Genetic Counselling process is complex enough without additional challenges and funding for posts is an urgent concern. Further financial investment to support the work of those currently practicing is critical.

What motivates you to persist in these trying circumstances?

“I have a passion for the work that I do and I know it makes a huge difference for families who live with a genetic condition.   Given the rapidly evolving nature of the field of genetics, Genetic Counsellors will have an increasingly important role to act as an interface between the genetic laboratory, the patient/family and other health professionals,” says Frieda.

The need for genetic counsellors will increase as technology improves to make genetic testing more affordable and to improve accuracy of predicting risk. Perhaps you would like to consider a career in Genetic Counselling?

Support for Genetic Counselling services in the Western Cape

by Frieda Loubser, Mardelle Schoeman, Nakita Verkijk and Jacquie Greenberg

BACKGROUND

1 in 19 South Africans are estimated to have a genetic disorder with a further 1 in 59 people suffering from the teratogenic consequences of intrauterine exposure to infections, drugs or toxins. The range of genetic disorders commonly encountered in this country includes prenatal, paediatric and adult onset conditions such as chromosomal anomalies (Down syndrome), single gene disorders (Cystic Fibrosis, Haemophilia A/B,  Huntington Disease), multi-factorial conditions arising from genetic and environment factors (Spina Bifida)  and the teratogenic effects of infections, drugs and toxins, particularly alcohol.  Affected individuals span all ages from the foetus and newborn baby to children, adolescents and adults and nearly all clinical disciplines encounter patients affected by genetic disorders.

Genetic counsellors fulfil a valuable role of informing patients and parents of their own risks and the risks for other family members regarding the genetic condition in their family.  These risks include cancer risks and recommended increased surveillance or risk-reducing options, as well as recurrence risk for future pregnancies and related options such as genetic testing and management (depending on the diagnosis of the genetic disorder) in order for families to make informed decisions regarding their healthcare and reproduction.

Genetic counsellors are health care professionals registered with the Health Professions Council of South Africa (HPCSA) with specialised degrees (MSc in Genetic Counselling) and experience in the areas of medical genetics and counselling.  Their work includes analysing family history information, interpreting information about specific disorders, discussing the inheritance patterns, assessing and calculating the risk to individuals and reviewing available options for testing or management with families. The results of genetic tests are often complex, with important predictive and familial implications. Genetic counsellors are trained to translate complex information into a language that patients can understand and use to make important decisions.  Genetic counsellors also act as an interface between the genetic laboratory, the patient/family and other health professionals. In addition to informative counselling, genetic counsellors provide supportive counselling to help individuals and families cope with and adapt to their circumstances.

OBJECTIVES

The United Kingdom report on “Clinical Genetics Services into the 21st Century” (1996) recommends that 8 genetic counsellors are required per 1 000 000 of the population.  The suggested Genetic Service plan for SA recommends 2 Genetic Counsellors per million, which is in keeping with the WHO and the USA National Society of Genetic Counsellors recommendations, translating to 11 Genetic Counsellors in the Western Cape.  As a realistic immediate goal however, it recommends 9 genetic counsellors for the 2012-2014 period in the Western Cape.

COST

R 280 000 per annum per Genetic Counsellor (similar to a clinical psychologist)

CURRENT SITUATION

Genetic Counsellors in the Western Cape:

Genetic Counselling Interns (1 year internship following MSc degree before registering with HPCSA):

  • 1 at UCT (Groote Schuur and Red Cross War Memorial Children’s Hospital) on DST NRF funding.
  • 1 at Tygerberg on DST NRF funding.

All of these contracts will expire by the end of April 2013 after which there is no foreseeable renewal.

Therefore, there is no immediate sustainable funding for a genetic counselling service.  This is an unstable situation in which genetic counsellors – who form an important part of the clinical genetics service – remain in temporary employment. This leads to a lack of job security, career path, and demoralisation. The predictable consequence will be loss of all our carefully trained genetic counsellors, which would be tragic indeed.

BENEFITS / DELIVERABLES

The clinical genetics team at the Division of Human Genetics at UCT provides services to Groote Schuur Hospital and Red Cross War Memorial Children’s Hospital as well as Outreach programmes to LSEN (Learners with Special Education Needs) schools and outreach clinics in the Western Cape area. Clinics include cardiac-genetic clinics, paediatric genetic clinics, pregnancy counselling/foetal medicine clinics, general adult genetic clinics, cancer-genetic clinics and neuro-genetic clinics.   A similarly diverse range of patients are served by the clinical genetics team at Tygerberg Hospital. Genetic counsellors have been involved with multi-disciplinary clinics including Haematology clinics, Neuro-muscular clinics and Cystic Fibrosis clinics.  As the capacity of the genetic counselling service increases, waiting periods for clinics will decrease (some clinics currently have a 4 month waiting list) and commitments to genetic and other clinics will become permanent, enabling long-term planning.

A hand-full of full time genetic counsellors will enable teaching, facilitation and co-ordination of our MSc Genetic Counselling course (one of only 2 in SA), allowing us to accept more students and also to train registrars in genetics, hereby increasing our capacity to improve genetic services in the Western Cape and South Africa.

Genetic counselling enables individuals and families to understand the diagnosis, cause and management of their diagnosis.  Family members can make informed reproductive decisions and this includes primary prevention of birth defects, such as the reduction of neural tube defects by informing women of the benefits of taking folic acid pre-conceptionally and during the first trimester of pregnancy.

Cancer genetic counselling specifically has shown huge benefit in reducing morbidity and mortality by identifying at-risk family members and offering increased surveillance and risk-reducing options.

Genetic counsellors are well equipped to refer for appropriate genetic testing in a practical and cost effective way thereby reducing the costs of tests to patients, medical aids and the department of health.

IN SUMMARY

Genetic counselling is a process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. 

The current crisis regarding the lack of financial support for genetic counselling services needs urgent attention.

Genetic Counselling in South Africa: what is the status quo?

The beautiful country of South Africa, with a population of 51 million, lies at the tip of the African continent. The South African (SA) Department of Health (DOH) has committed itself to (1) increase life expectancy (2) decrease maternal and child mortality (3) combat HIV and AIDS and decrease the burden of disease from TB and (4) strengthen health system effectiveness. These priorities are not surprising given that life expectancy has dropped, the mortality rate for children under 5 has increased and that HIV/AIDS and TB remain critical challenges.

Genetic counsellors fulfil the valuable role of informing patients and parents of their own risks and the risks for other family members regarding the genetic condition in their family.  These risks include cancer risks and recommended increased surveillance or risk-reducing options as well as recurrence risk for future pregnancies and related options (depending on the diagnosis of the genetic disorder) in order for families to make informed decisions regarding their healthcare and reproduction.

According to the Southern Africa Society of Human Genetics there are less than 30 formally trained/certified genetic counsellors in the country.  The global scientific community is generating genomic data at an increasing pace and where previously the technology divide was leaving Africa behind the developed world the genomic information divide is becoming an ever increasing hurdle. This is also ironic given the significant genetic diversity of the South African population in particular.  The importance of the role of Genetic Counsellors cannot be underestimated and at the moment is unfortunately neglected and living on the fringes of medical practice.

Apart from the obvious heritable conditions we now know about, and establishing your risk for these on the basis of family history, or being able to do a genetic test, and providing genetic counselling as to minimise risks, or dealing best with the problems one has already got (by the luck of the genetic draw), the role of counsellors is set to increase remarkably according to researchers at the Division of Human Genetics at the University of Cape Town.

The three main urban centres in SA do currently benefit from comprehensive genetic services and offer fully integrated clinical, counselling and laboratory facilities, as well as specialist academic training. They provide outreach clinics within their provinces and others. Research on many of the genetic conditions of specific concern to the country is still being undertaken and SA is also host to the South African Bioinformatics Network (SANBI) that delivers biomedical discovery appropriate to both the international and African context.

In 2008 there were five genetic service facilities in South Africa. Johannesburg hosted the largest facility at the National Health Laboratory Services(NHLS)/University of the Witwatersrand and the remainder were at the Universities of Cape Town, Stellenbosch, Free State (in Bloemfontein) and KwaZulu Natal (in Durban). Paediatricians with a special interest in human genetics held informal genetics clinics at the Universities of Pretoria and Limpopo (in Polokwane).

The shortage of trained genetic professionals leaves much of the population without access to appropriate services, despite recognition of the role of genetics in monogenic disorders and common multifactorial diseases such as cancer, diabetes and heart disease. Initially trained nurses were key providers of genetic services but competing needs, worsened by the HIV epidemic, have resulted in attrition of posts for both nurse counsellors and medical geneticists. Moreover, there is no provision for the emerging profession of genetic counselling which, in the multilingual and multicultural society of SA, demands indigenous language speakers to convey complex genetic concepts.

Health care in the future is going to be much more in tune with what your genetic constitution is, and how this responds to the environment (i.e. what you eat, drink and are exposed to) in terms of whether certain predispositions to diseases will be exposed.  It will no more be pertinent just to the obvious genetic conditions, but to the much more prevalent chronic diseases, including diabetes, hypertension, cardiac diseases, cancers, psychiatric diseases, amongst others.  Reasonably simple genetic tests will be available for how we metabolise different substances, and as well as why we respond differently to different drugs.

To allow African countries to participate in the genomic revolution, the Human Heredity and Health in Africa (H3Africa) initiative was launched with the goal of developing a large-scale genomics research programme in Africa to study genetic diversity in health and disease in African populations. Researchers from African and non-African countries are currently involved in researching aspects of the human genome in relation to human origins, diversity and disease susceptibility. South African universities participating in this initiative include Western Cape, Cape Town, Witwatersrand, Pretoria, Limpopo, Rhodes and Stellenbosch.

When considering the World Health Organisation (WHO) recommendations, genetic services in South African are currently understaffed by 90%, and further employment opportunities are urgently required. Despite the shortfall and requirement for further financial support the training of professionals continues and comprehensive genetic testing facilities are still available. The services are not only utilised by patients in SA but also by patients from Southern and Central Africa.

Apart from the few outreach clinics provided by the academic centres there are currently no genetic services available in the rural areas. Referrals can however be made to the tertiary care level from the secondary and primary levels.

In the near future, whole genome sequencing data will be readily available for the public at a relatively low cost and there is an urgent need to improve genetic literacy in sub-Saharan Africa. Genetics and the interpretation of complex data will be pertinent to practically everybody.  Genetic information however is reasonably complex to understand, and Genetic Counsellors will be in demand.

Acknowledgements:

GCNewsSA would like to thank Mrs Frieda Loubser, Genetic Counsellor, for her invaluable support and Professor Jacqui Greenberg for her persistent enthusiasm and encouragement

References:

  1. Beighton P., Fieggen K., Wonkam A., Ramesar R., Greenberg J. The University of Cape Town’s contribution to medical genetics in Africa – from the past into the future S Afr Med J 2012;102(6):446-448.
  2. Kromberg J.G.R, Sizer E.B., Christianson, A.L. Genetic services and testing in South Africa J Community Genet June 2012