First comprehensive medical genetic and genetic counselling service in private practice

Posted on 7 June 2021

Mediclinic Panorama is the first private hospital in South Africa to offer a comprehensive medical genetic and genetic counselling service. Such a service has become an essential offering for our patients as the evolution of this science has evolved.  

The decoding of the first human genome took place more than 20 years ago and has given rise to the genetic and genomic era of medicine. Improved understanding of the underlying genetic contribution to disease has led to the development of more comprehensive and affordable diagnostic, preventative, and even therapeutic approaches for many genetic conditions.

Many lifestyle and common disorders related to certain environmental exposures such as cancer, diabetes, heart disease, and psychiatric disorders, also have genetic factors contributing to the disease. Apart from these common conditions, it is estimated that 3-7% of the general population will be diagnosed with a purely genetic condition. Many individuals with rare genetic diseases may go undiagnosed for many years and receive several misdiagnoses, before receiving a definitive diagnosis- a journey often referred to as the “diagnostic odyssey.”

Specialists wanting to optimally diagnose and manage their patients are turning to new diagnostic genomic investigations. Examples include the application of broad cancer gene panels to determine whether their patient has an underlying genetic predisposition to cancer, and whole exome sequencing for the diagnosis of rare diseases. Knowledge about the cause of the condition, not only influences the management of the patient, but also offers preventative and screening options to their immediate family members. The interpretation and correlation of genetic test results with a patient’s presenting features often remain complex and require assistance from a genetic professional.

Mediclinic Panorama is home to Dr Liani Smit, a medical geneticist, and Dr Chantelle Scott, a genetic counsellor. They are based at the Panorama Centre for Surgical Oncology (PACSO) and together they offer comprehensive medical genetic and genetic counselling services for individuals with known or suspected genetic diseases. They also offer advice to specialists in any of the other medical fields with regards to when genetic testing is appropriate. The aim of this service is to help patients navigate the uncertainty and complexity of genetic conditions with accurate information, compassion, and support.

Dr Liani Smit has a special interest in paediatric, adult, and prenatal genetics, including rare diseases and foetal anomalies. She offers comprehensive diagnostic consultations to individuals of all ages with known or suspected genetic diseases. Dr Liani is passionate about shortening the diagnostic odyssey for patients with rare diseases.

“The role of the medical geneticist is evolving alongside advances in genetics and genomics,” says Dr Smit. “Traditionally, the speciality of medical genetics is associated with dysmorphology assessments and the diagnosis of genetic syndromes. While this is still integral to the assessment and diagnosis of many individuals with known or suspected genetic diseases, the scope of the medical geneticist extends much broader today. Medical geneticists combine clinical acumen with the use of advanced phenotyping tools, cost-effective approaches to genetic and genomic investigations and interpret these findings within the context of the individual’s clinical features and family history. Medical geneticists formulate comprehensive management and treatment plans, liaise with international specialists, and assist with the coordination of multidisciplinary follow up of patients with complex genetic diseases.”

Dr Chantelle Scott is a general genetic counsellor offering services to patients with conditions within various medical specialities. She does, however, have a special interest in cancer and prenatal genetics.  She offers genetic counselling consultations to adults with known genetic conditions or cancer diagnoses, as well as couples who are expecting or planning a pregnancy.

“I think the most confusing thing about the role of a genetic counsellor is the word ‘counsellor’,” says Dr Scott. “Perhaps it would have been better to use the word advisor, as a genetic counsellor looks at a person’s clinical diagnosis in combination with the person’s family history to give advice on which genetic testing might be appropriate to establish the risk of developing or having a baby with a particular genetic condition. Once these risks have been established or a diagnosis is made, the genetic counsellor provides information on the genetic condition, explains the inheritance patterns and risks related to family members and/or recurrence risks as well as the management options. The genetic counsellor also provides psychosocial support in dealing with the risk and diagnosis of a genetic condition.”

This dynamic duo is not only committed to patient care but also passionate about genetic education of medical professionals. “Our aim is for every healthcare professional to recognise the value of integrating genetic and genomic medicine and counselling services into their clinical practice as part of the patient’s optimal and holistic care.”

 



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