Doing better for our patients: Reflections on genetic pathology emergencies

DR LAUREN AKESSON
Genetic Pathologist and Clinical Geneticist
Melbourne Pathology, Royal Melbourne Hospital, University of Melbourne

There is a lot to be learned from seeing how other laboratories approach genomic testing. Dr Lauren Akesson had the privilege of visiting Radboud University Medical Centre in Nijmegen, the Netherlands, at the end of her genetic pathology training, during which time she was exposed to emerging genomic technologies such as optical genome mapping and long read sequencing, and how these are being implemented in the clinical setting.

At the same time, our approach to genetic testing is evolving. Gone are the days when genetic testing occurred over months to years. The barriers to urgent genetic testing are rapidly falling and results can now be achieved in days, hours, or even minutes. Dr Lauren Akesson will explore the implementation of urgent genetic testing for genetic pathology emergencies with examples in paediatrics, the prenatal setting, oncology, and transplant medicine. Just imagine what we can achieve next!

Dr Lauren Akesson is a dual trained genetic pathologist and clinical geneticist, with a background in paediatrics and a PhD in cystic fibrosis. In the midst of establishing a clinical career as a physician and a pathologist, Lauren has maintained an active role in research as part of Australian Genomics, SpliceACORD, and other clinical research projects, publishing several case reports illustrating novel applications of clinical genomic testing and contributing to larger research programs. She is dedicated to quality patient care as a Genetic Pathologist at Melbourne Pathology and in private practice as a Clinical Geneticist. Lauren holds honorary appointments at both the Royal Melbourne Hospital and the University of Melbourne and is keen to continue contributing to research as her career evolves.