Medical Genetics is the speciality of medicine involved in understanding the interaction between genes and our health. It is one of the most exciting and rapidly evolving fields of medicine!

It is estimated that between 3-7% of the world’s population will be diagnosed with a genetic or hereditary condition. Many genetic conditions are rare, complex, difficult to diagnose and even more difficult to treat.


A medical genetics consultation includes the comprehensive evaluation, investigation, diagnosis, management, and counselling of individuals and families with a known or suspected genetic cause or contribution to their medical condition.

Examples of genetic conditions include (but are not limited to):

Chromosomal conditions, e.g. Down syndrome, Edwards syndrome, Patau syndrome, Turner syndrome or Klinefelter syndrome
Microdeletion / Microduplication syndromes, e.g. 22q11.2deletion (Di George) syndrome, Wolf Hirschhorn syndrome, Cri du Chat syndrome
Single gene conditions, e.g. cystic fibrosis, albinism, achondroplasia
Multifactorial “birth defects” or congenital disorders, e.g. cleft lip and palate, spina bifida, congenital heart disease, or clubfoot.


 A medical geneticist, or clinical geneticist, is a medical doctor who specialises in the field of medical genetics. Medical geneticists complete advanced and specialised training which enables them to evaluate, investigate, diagnose, manage, treat, and counsel individuals of all ages with conditions known or suspected to have an underlying genetic cause.

They have a unique set of skills allowing them to integrate complex information from a person’s family history, medical history, clinical examination, genetic tests results and other specialised investigations, to make a diagnosis or shortlist of possible diagnoses.

They are also skilled at communicating their findings and the implications thereof in a supportive and understandable way. Medical geneticists can suggest and refer you to organisations or support groups and search for any recent breakthroughs, new treatments or clinical trials that may be relevant to you.

Medical geneticists may work independently or as part of a multidisciplinary team of doctors, genetic counsellors, and other allied health care professionals providing comprehensive care for patients and families who either have or are at risk of a genetic condition.