What is a medical geneticist?

A medical geneticist is a medical doctor who specialises in the field of medical genetics. Medical geneticists are experts in the evaluation, diagnosis, investigation, management, and counselling of genetic conditions.

Medical geneticists combine information obtained from your personal and family history, clinical examination, specialised investigations, additional resources and databases, and genetic testing, to establish a diagnosis or differential diagnosis, and formulate a management plan. They are also skilled at communicating their findings and the implications thereof in a supportive and understandable way and can suggest and refer you to relevant organisations or support groups.

What training or qualifications does a medical geneticist have?

Following their undergraduate medical degree, internship and community service, a medical geneticist completes a minimum of 4 years specialist registrar training at a tertiary level hospital. They complete a national examination before being admitted as a Fellow of the College of Medical Geneticists (FCMG) of South Africa, and a Master of Medicine degree before registration as a specialist medical geneticist with the HPCSA.

Can I book an appointment, or do I need to be referred by a healthcare worker?

You may request an appointment with Dr Liani or be referred by a health care worker. Due to the complexity of genetic conditions, most types of consultations will require you to provide a referral letter, previous medical summaries, reports and copies of relevant investigations. Upon booking an appointment you/your referring healthcare worker will be informed about the documentation required to ensure you get the most out of your first consultation.

Who will benefit from consulting with a medical geneticist?

You will benefit from a consultation if there is a concern for an underlying genetic cause or contribution to your/your child’s condition which necessitates a comprehensive diagnostic evaluation (history, clinical examination, review of medical reports, previous test results) and further genetic counselling. If you/your child were already diagnosed with a genetic condition, you may still benefit from speaking with a medical geneticist about the diagnosis, implications, management, prognosis and recurrence risk thereof.

What should I expect from my first consultation with a medical geneticist?

Depending on the complexity of the consultation, your first consultation will range between 60-90 minutes. The session is structured into:

  • An introduction with discussion around the reason for the consultation and your expectations
  • Exploration of a relevant three-generation family history
  • Reviewing your personal medical history (if an infant or child: pregnancy, birth and developmental history)
  • A clinical examination (where appropriate)
  • Discussion of findings, differential diagnosis or diagnosis, and recommendations for further genetic testing (where appropriate)
  • Where further genetic testing is recommended, the benefits, limitations and costs thereof will be discussed with you
  • Where a diagnosis is made, the cause, implications, management, and recurrence risk will be discussed with a follow up plan.
I have already had genetic testing, should I still see a medical geneticist?

Ideally a genetics professional should be involved when a decision regarding the appropriateness and choice of genetic testing is undertaken. Possible outcomes of testing and their implications should be discussed before testing is pursued. If you have already undertaken genetic testing, there is still a lot of value in seeing a genetic professional.

Whether the result is positive, negative or uncertain, the result requires interpretation in the context of your personal and family history, with a discussion around further implications and recurrence risk. Genetic testing is complex, and there is not one test that can test for everything. In some cases, testing of other family members or a different genetic test may be recommended.

How much does genetic testing cost and is it included in the consultation fee?

Should further genetic testing be recommended, the type of test, its benefits, limitations, costs, possible outcomes, and implications will be discussed with you. You are under no obligation to undertake further genetic testing. Any additional testing or procedures are not included in your consultation fee and is billed separately by the laboratory or practice rendering the service.

Do you offer telehealth consultations?

Consultations are best conducted in person, though telehealth consultations may be possible when no clinical examination is required, and when patients do not live within an easy travelling distance of our consulting rooms. We recognise that medical genetics is a highly specialised field with only a few specialists limited to major cities within South Africa. If you reside in an outlying area, please contact us to enquire regarding the availability and appropriateness of a telehealth consult.

Do you consult after-hours and on weekends?

By special arrangement extended consultation hours on certain weekdays and Saturday mornings may be possible.

Any other questions?

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Alternatively, you can send us an email or give us a call on: 021 939 7790 / 060 436 1638