Issue #118
October 2021
Supervision and performance of genetics and genomic testing

Genetic and genomic testing is a rapidly growing field of science and medicine, including laboratory medicine, with huge benefits (and risks) for patients and the public. Dr Michael Dray, President RCPA explains that the RCPA has recently developed a position statement in order to provide information to pathologists, clinical scientists, clinicians, other health care providers, regulatory and administrative bodies, governments, and the broader community about the skills required to oversee the performance and supervision of genetic and genomic tests.

“In order to minimise risk to patients and ensure laboratories are operating at the highest level of clinical and scientific governance, it is the RCPA’s position that all laboratories conducting genetic and genomic testing should have both a pathologist and clinical scientist present, with a scope of practice in their particular disciplines of pathology.

“Pathologists are specialist medical practitioners who study the cause of disease and the ways in which diseases affect our bodies. Genetic Pathology is a separate specialty of pathology in Australasia, reflecting the specialisation available in genetic testing, especially in germline testing which is performed to see if a person has a gene mutation that is known to increase the risk of developing cancers and other health problems. Genetic and genomic testing is increasingly an integral part of the routine practice of all branches of pathology. Genetic testing is the basis of personalised medicine and is increasingly a contributor to improved patient outcomes. Genetic Pathologists and other cross-disciplinary pathologists who specialise in genetic testing complement the existing pathologist workforce, to diagnose and monitor complex disease using molecular testing methods.

“Because pathologists are the medical specialists who specialise in laboratory testing, they have the skills required to supervise genetic and genomic testing with responsibility for individual test results for clinical purposes. Pathologists are also able to bridge the gap between science and patients via assisting requesting clinicians and are therefore an essential component of genetic and genomic testing,” said Dr Dray.

Genetic testing is the basis of personalised medicine and is increasingly a contributor to improved patient outcomes. The range of tests covered by genetic and genomic testing is extensive and continuing to expand at a rapid pace. This includes looking for an increasingly broad range of genetic abnormalities in both germline and somatic (changes in cancers) genetic settings, and also using a wide variety of technologies.

“In addition to pathologists, clinical scientists, including molecular scientists, play a key role in regulatory compliance and quality management of genetic and genomic tests. They can also offer advice on testing and result interpretation to clinical colleagues and play a key role in the training of laboratory staff including pathologists. The clinical utility of genetic and genomic testing relies on supervising pathologists working with appropriately trained clinical scientists in attaining the theoretical, practical and clinical standards required,” said Dr Dray.

To view the position statement visit:



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