Genetic testing refers to specific genes or parts of genes and how those characteristics are passed through generations via DNA. Genomics refers to the entirety of an organism’s genes and analysing vast amounts of DNA data to find variations that impact health, disease, or drug response. Genomics in medicine can also refer to testing all the genes known to be related to a specific disorder e.g. all the genes known to cause intellectual disability or breast cancer.

The report found a 73% increase in molecular test requests over the past 5 ½ years, with more than 660,000 genetic or genomic tests reported during the 2016/2017 financial year.

More than 660,000 genetic/genomic tests were reported over the one-year survey period, which ran during the 2016/2017 financial year.

The field of genetics/genomics is exploring exciting new areas, such as pharmacogenetics – which allows a clinician to look at an individual’s genetic make-up and metabolism in order to prescribe the ideal drug and dosage.

People had genetic tests for a number of reasons, including cancer diagnosis and treatment, looking for inheritable genetic conditions, transplant monitoring, and prenatal screening.

It is also possible through genetic testing to determine which patients will and which won’t respond to a medicine, helping refine and personalise the treatment and to save significant amounts of money on expensive medicines that may not work.

Dr Melody Caramins, a genetic pathologist, explains that the developments in genetic medicine are both a boon to the healthcare sector and a challenge.

While promising a radical improvement in the way we treat patients, the genetics/genomics revolution is also presenting challenges to the medical field.

‘The development of genetic technology has been swift but because it’s moving so rapidly there’s a risk of clinicians not being up to date.

‘That puts a premium on the medical and pathology workforce to help upskill requesting doctors and to integrate these technologies into mainstream healthcare, because the benefits of using these tests responsibly can potentially be enormous.’

The RCPA data shows that GPs were the most frequent users of genomic testing, along with obstetricians, fertility, and foetal medicine specialists: this grouping was responsible for ordering half of the genetic and genomic tests conducted over the last 12 months.

Another way in which genetic/genomic testing is throwing forward challenges is in their funding, although that too has increased in recent years.

‘In 2011, Medicare funding covered about 35% of genetic tests. In the 2016/2017 period that figure rose to 49% of tests being covered by Medicare,’ said Dr Caramins.

‘That increase reflects both the increase in the number of tests being taken as well as the increase in the variety of tests being covered by the Medicare Benefit Schedule.’

The post From science fiction to science fact: the rise and rise of genetic testing first appeared on Know Pathology Know Healthcare.

Pathology Update 2019 is the annual scientific educational meeting for the Royal College of Pathologists of Australasia and the only conference of its kind in Australasia; bringing together pathology professionals from all eight pathology disciplines and world-renowned pathology experts.

This year the event included 11 internationally renowned pathologists in their fields who presented to their colleagues on a variety of topics.

One of the highlights was in the sphere of genetic pathology, with a focus on cancer genomics, a very exciting area of pathology right now. Professor Obi Griffith presented at the Innovations Plenary on ‘Surveying the genomic landscape of tumours and tumour models – the next frontier.’

In a similar vein, Dr Lillian Siu presented the Eva Raik plenary talk on ‘Precision Cancer Medicine – cup half full or cup half empty’.

Not to be outdone, Haematology highlights included four excellent lectures delivered by world-renowned Haematopathologist, Dr Elaine Jaffe, on the classification of lymphoma and potential differential diagnoses in the assessment of potential lymphoproliferative disorders. Dr Jaffe was award RCPA Honorary Fellowship at the Annual Awards and Admission Ceremony.

More generally, Pathology Update covered topical lifestyle sessions on topics from mindfulness, sleep, fad diets, stand-up/sitting down, and managing stress sessions.

Pathology Update 2019’s Charity of Choice was also revealed at the event, going to the Snowdome Foundation.

Snowdome has a mission to improve outcomes for Australian men, women and children living with blood cancers. A total of $7K was raised at the event and you can still donate at https://www.snowdome.org.au/donate/

Dr Debra Graves also celebrated 20 years at the helm of the Royal College of Pathologists of Australasia, serving as the Inaugural Chief Executive Officer.

All in all the event was a fantastic event for all those attending, helping keep the sector abreast of the latest developments across the field.

All Pathology Update 2019 Post Conference information is available at https://www.rcpa.edu.au/Events/Pathology-Update/Post-Conference

The post Pathology Update 2019: wrap first appeared on Know Pathology Know Healthcare.

The recipients of Australia Day honours were Professor Olaf Drummer, Professor Catriona McLean, Associate Professor Beverley Rowbotham, and Dr Russell Lain.

Professor Olaf Drummer is a forensic pharmacologist and toxicologist and is currently Professor of Forensic Medical Science at Monash University, located at the Victorian Institute of Forensic Medicine, Professor Drummer has published extensively. His main research contribution has been in the field of public health and prevention of drug-related harm.

‘My main field of expertise has been in the field of prescribed and illicit drugs, their impact and how to prevent the harm caused by them,’ said Professor Drummer.

‘It was a great feeling to be recognised by one’s colleagues and peers and to have my achievements recognised.’

Professor Drummer set up a world-leading toxicology lab at Victorian Institute of Forensic Medicine and has appeared in 100s of court cases, providing evidence on the likely effects of drugs. He has a number of research projects underway at present.

Professor Catriona McLean is currently working as Professor and Head of the Department of Anatomical Pathology at Alfred Health in Melbourne. Professor McLean recently received Australia Day honours for a lifetime of achievement and contribution to the health sector, notably to neuroscience and pathology.

Professor McLean’s experience in the health sector includes: publication of over 400 papers; supervision of research students and pathology trainees; membership of multiple scientific advisory committees and the ethics committee of Alfred Health; Chair of Senior Medical Staff at the Alfred; Professor of the Pathology Board of Education for Monash University; Professorial positions at Monash University Central Clinical School and the Howard Florey Neurosciences Institute; Director of the Australian Brain Bank Network and the Victorian Neuromuscular Laboratory service; honorary Pathologist for the Australian and New Zealand Creutzfeldt-Jakob disease (ANZCJD) registry and the Victorian Brain Bank.

‘Having been intimately involved with the health, education, training, and pathology sector for the last four decades, it’s lovely to see that those efforts are valued,’ said Professor McLean.

‘There have been so many fantastic institutions and people I’ve worked with. It’s great to see the work of the pathology sector recognised for the vital role it plays within the health sector more broadly.’

Associate Professor Beverley Rowbotham wears several hats. Besides practicing as a haematologist, Professor Rowbotham is currently the Chair of the National Pathology Accreditation Advisory Council (NPAAC) as well as being the pathology representative on the Federal Council for the Australian Medical Association (AMA).

Whether advising the NPAAC on pathology policy and accreditation, representing pathology before the AMA, or speaking to government and funding bodies, Professor Rowbotham is a passionate advocate for the role of pathology.

‘We’re extremely lucky to have a world-leading pathology sector in Australia. It’s really a jewel in the crown of Australian healthcare.

‘I sometimes liken pathology to an electricity grid. If it goes down, the health system doesn’t work. That’s why I’m such a strong advocate for its role.’

Into the future, Professor Rowbotham plans on developing accreditation standards that focus on patient safety, having recently been reappointed to the position of Chair at the NPAAC.

Dr Russell Lain worked as a practising dentist for twenty years before moving into the world of forensic odontology – with only 21 specialists in his field in Australia.

This has involved Dr Lain travelling around the world to help identify victims in global tragedies by looking at their teeth.

‘Day to day I work at the Sydney Dental Hospital in Surry Hills and do case work in coronial system, but I’ve also been involved in traumatic international events such as the Thai Tsunami and the Bali bombing.

‘I’m also heavily involved in the Unrecovered War Casualties Army, which looks for missing Australian service personnel around the globe of which there are over 20,000,’ said Dr Lain.

‘I was delighted and elated to win Australia Day Honours. It felt like a validation not just of my work but all the people I’ve worked with and their contributions too.’

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