Magister of Medicine in Medical Genetics

Purpose

This is a professional qualification allowing registration with the HPCSA as a medical specialist in the field of Medical Genetics. The purpose of this qualification is to enable the successful candidate to function as a specialist Medical Geneticist within the medical and academic community as well as society at large.

Rationale

This Qualification will be aimed at enabling the graduate to apply the principles of preventative health within the realm of Medical Genetics at the level of a medical specialist. The needs of the public in respect of this modern aspect of healthcare will be addressed by this qualification. The need for this training has been set out in the "National Policy Guidelines for the Management and Prevention of Genetic Disorders, Birth Defects and Disabilities" as published by the National Department of Health. The Health Professions Council of South Africa (HPCSA) approved the establishment of the speciality of Medical Genetics on 17 August 2007 and this qualification is required to allow registration in that field of medicine.

The admission requirements stipulate an MBChB or equivalent degree.

Recognition of Prior Learning

This is a professional qualification with little scope for Recognition of Prior Learning (RPL). All applicants must be registered as a medical practitioner with HPCSA and without this specific prior learning in place, the candidate will not be eligible.

Access to the Qualification

Candidates must

• Have successfully completed and been awarded a MBChB degree (or equivalent).
• Be registered with the HPCSA as a medical practitioner in the category "Independent Practice".
• Have completed their internship and community service obligations.
• Have two years experience as a medical officer/general practitioner.
• The following factors can place an applicant at an advantage:

> At least twelve months experience in Paediatrics and/or Obstetrics and Gynaecology and/or Internal Medicine. This experience should be obtained in a level 2 or higher facility.

> Applicants resident and working in the Free State, Northern Cape or areas immediately adjoining the Free State where the nearest Faculty of Health Sciences is that of the University of the Free State.

All components are compulsory.

A period of practical internship will have to be done as determined by the Health Professions Council of South Africa or other relevant professional body, before the learner can be awarded the qualification.

Range

• The outcomes are to be in keeping with "Human Genetics Policy Guidelines for the Management and Prevention of Genetic Disorders, Birth Defects and Disabilities" of the National Department of Health and enable successful implementation of the policy.
• Formal genetics and basic sciences including structure and function of genetic material.
• Classical and non-classical inheritance patterns including segregation analysis.
• Genetic epidemiology, population genetics and mathematical equations such as Bayes' theorem.
• Basic embryology and effects of teratogens.
• Cytogenetics.
• Molecular genetics.
• Cancer genetics.
• Biochemical genetics.
• Genetic screening.
• Prenatal diagnoses, including pre-implantation diagnoses.
• Predictive, pre-symptomatic or susceptibility genetic testing.
• Legal and ethical aspects of Medical Genetics.

1. Obtain a detailed and focused genetic history including family, antenatal, perinatal and medical/surgical history.
2. Provide appropriate genetic counselling to the patient and his/her family.
3. Care for patients with Medical Genetic conditions and birth defects, including the rare conditions.
4. Perform effective genetic counselling in different settings including cross-cultural counselling.
5. Conduct research in the field.

Assessment Criteria associated with Exit Level Outcome 1

1.1 Interpret pedigree information and perform genetic risk assessment. 1.2 Perform a comprehensive clinical and dysmorphological examination. 1.3 Write patient reports. 1.4 Perform procedures necessary to make a genetic diagnosis, including skin biopsy, fetal examination, taking of buccal smears etc. 1.5 Make genetic assessments of individuals and their families which include the taking of a detailed and directed family history, constructing a family pedigree, performing a comprehensive clinical examination and interpretation of clinical signs.

Assessment Criteria associated with Exit Level Outcome 2

2.1 Communicate effectively with patients, family members, other healthcare workers and colleagues. 2.2 Act as the patient's advocate, advisor and guide within the discipline of Medical Genetics. 2.3 Act in accordance with high ethical standards and sensitivity towards consultants and their family in all settings.

Assessment Criteria associated with Exit Level Outcome 3

3.1 Interpret Medical Genetic test results including karyotyping, molecular testing, biochemical screening and linkage analysis. 3.2 Offer care for all conditions commonly occurring in Medical Genetics.

Assessment Criteria associated with Exit Level Outcome 4

4.1 Apply knowledge in selection/co-ordination of special investigations and interpreting their results. 4.2 Distinguish between genetic screening and genetic diagnostic tests. 4.3 Use computer databases in syndrome diagnosis, risk calculation and obtaining relevant information for patient care. 4.4 Judge when to seek the help of other specialists and sub-specialists. 4.5 Understand and application of therapeutics applicable to Medical Genetics (including gene therapy and enzyme replacement).

Assessment Criteria associated with Exit Level Outcome 5

5.1 Produce an article for publication in a peer reviewed journal. 5.2 Present research findings at a national or international congress/seminar. 5.3 Appropriate computer skills including a good understanding of Bioinformatics.

Integrated Assessment

The assessment will be integrated in terms of the type of questions asked and be clinically orientated. The critical exit question is "will the candidate be able to function as an independent Medical Genetics specialist within the medical community and society at large?"

Two examinations will be conducted, each with multiple components. Part 1 will have two 3-hour written papers and part 2 will have 2 3-hour papers, an OSCE and 3 clinical cases. The outcomes that will be examined are set out under the Qualification Rules.