The RCPA’s annual conference, Pathology Update 2021 is now virtual. Taking place from 2-4 July, the conference will provide a robust scientific program filled with exceptional speakers. In this article we highlight presentations from the diverse schedule of home-grown talent that are not to be missed.
On Friday 2 July, Dr Michael Buckley will present in the genetic stream with his presentation, Exomes in Prenatal Testing: An introduction to the PreGen study. The PreGen study was established in 2020 to investigate the clinical utility and cost effectiveness of establishing a genomic diagnosis in the second trimester of pregnancy for foetuses with ultrasound-detected structural malformations. Dr Buckley will explain how rapid turn-around time whole exome sequencing has quickly become an accepted component of clinical genomics practice after being initially developed to provide diagnoses for neonates in intensive care units. This presentation will showcase two case studies of antenatal genomic diagnosis and place these results in the context of the current literature.
On Saturday 3 July, A/Prof Steven Lane will present, Molecular profiling in haematological malignancies – the MOSTLLY study, in the combined genetic and haematology stream. MoST-LLy (Molecular Screening and Therapeutics in Leukaemia and Lymphoma) is the first molecular screening of its kind in blood cancers in Australia and is being piloted across two sites initially with funding provided by the Leukemia Foundation of Australia and Tour de Cure to screen 240 patients, with plans to roll out nationally.
On Sunday 4 July, Dr Ada Cheung and Dr Clare Headland will present in the Chemical stream to discuss, Hormone therapy in trans and diverse patients – guidelines in practice. During the presentation, they will explain that due to a lack of medical research, there are no reliable reference intervals specific to transgender patients in most instances, which could put patients at risk of misdiagnosis. Dr Cheung is an endocrinologist at Austin Health and wrote the first ever set of guidelines to guide doctors in the care of transgender and gender diverse Australians. She explains that it is advisable for a patient to disclose gender identity and gender assigned at birth.
“There are some dangers associated with the non-disclosure of presumed sex at birth, and therefore a number of healthcare situations where disclosure of gender assigned at birth is advisable for safety reasons. For example, an incorrect blood transfusion could cause haemolytic disease of the newborn in a future pregnancy. Another example is misdiagnosis of a heart attack – as hearts are bigger in people whose birth sex is male, their troponin levels are naturally higher. A health professional may potentially misinterpret a troponin result without knowing the person’s birth sex.
“From a laboratory perspective, we know that doctors would prefer to have both available to them to enable interpretation when they may be unsure of which reference interval to use or in the early phase of gender-affirming hormone therapy. I therefore think if there is any doubt on which reference interval we should be using, then we should report on both,” said Dr Cheung.
A pamphlet which explains this issue to patients was launched by the RCPA on International Transgender Day of Visibility.
Speaker presentations will be able to view in real time through the Path Update 2021 platform which will be available to all delegates this week.
