Monash Health’s Dr Kushani Jayasinghe has been awarded the 2022 Richard King Trainee Award, established by the American College of Medical Genetics and Genomics (ACMG) Foundation for Genetic and Genomic Medicine.

This award recognises a trainee’s contribution to high-quality research in ACMG’s official journal, Genetics In Medicine.

Dr Jayasinghe received the award for her article ‘Clinical impact of genomic testing in patients with suspected monogenic kidney disease’, published in Genetics In Medicine in February 2021.

Dr Jayasinghe said, “I am delighted to receive the Richard King Award. Genomic testing in kidney disease is still not routinely implemented into clinical practice. This study shows that genomic testing is clinically useful in terms of providing a diagnosis and has significant management implications for patients.”

“I am very grateful for the many researchers and clinicians who contributed to this study, my mentors who have supported me through my research and training, and Melbourne Genomics, who funded this study,” she said.

Dr Jayasinghe has been a nephrologist at Monash Health since completing her internship in 2011 and runs the renal genetics service at Monash Medical Centre.

This service cares for patients with a suspected genetic kidney disease. The team provide genetic counselling and genetic testing. Often, a genetic diagnosis will provide important information for the management of these patients.

“Once we find a genetic cause, we are able to give specific recommendations for our patients, as well as offering testing to other family members who may also benefit from a genetic diagnosis” said Dr Jayasinghe.

Dr Jayasinghe is also undertaking clinical genetics training at the Royal Melbourne Hospital and has recently completed her doctoral studies on the clinical utility and feasibility of genomic sequencing in kidney disease.

“Genetics is quickly evolving, and is becoming utilised in routine clinical care in many specialities in medicine, such as oncology and cardiology, and now also in nephrology.”

Congratulations to Dr Jayasinghe on this fantastic recognition.