Genetic pathology is an exciting, dynamic field of pathology that uses cutting-edge technology to investigate the genomic basis of disease and improve health outcomes for patients by personalising their medical care. Genetic pathologists are trained to analyse and integrate complex scientific data within a clinical context. Becoming a genetic pathologist will provide you with the opportunity to be at the forefront of a rapidly evolving and highly specialised area of healthcare.
Earlier genetic technology made it possible to analyse single genes or at most a few genes in a single test. Now it is possible to read the sequence of all of a person’s genes (exome sequencing) or of their entire genome (whole genome sequencing) in a single test. These more advanced genomic testing options can help provide best possible outcomes for patients and their family by providing information about prognosis or help with choosing treatments.
Genetic pathologists are medical specialists who analyse genetic testing data, interpret the clinical significance of the data for patients and families in their clinical context, report test findings, and liaise with clinicians about complex or clinically urgent results. The role involves dealing with rare conditions and it is often necessary for a genetic pathologist to search the medical literature and relevant databases for the answers to complex questions. genetic pathologists are highly skilled and trained to integrate knowledge of genetics, the testing technology used and its limitations, and clinical features to form a professional opinion.
Genetic pathologists within NSW Health Pathology are located in genetic testing laboratories and work directly with medical scientists and bioinformaticians, and consult widely with other pathologists, medical specialists, general practitioners and genetic counsellors. genetic pathologists are often consulted for advice by other health specialists who have ordered or are considering ordering a range of genetic testing.
The types of tests performed, the clinical applications of various tests, and the role of the genetic pathologist continue to evolve. Technological advances are allowing genetic testing to be offered to a growing number of patients and their families.
To work as a genetic pathologist in Australia you will need to be a registered medical practitioner and have completed training as a genetic pathologist with the Royal College of Pathologists of Australasia (RCPA), which involves 5 years of supervised training in accredited laboratories and successful completion of written and practical examinations.
Please refer to RCPA website for up to date information on the entry and training requirements for becoming a genetic pathologist.
In addition the Royal Australasian College of Physicians (RACP) and the Royal College of pathologists (RCPA) offer a reciprocal training allowing trainees and supervisors to complete Advanced physician training in clinical genetics concurrently with training in genetic pathology:
* Please refer to individual entry requirements for accredited medical courses for more information.