Tag Archives: Genomics

Hear from Prof. Armes on the future of genome sequencing

Prof. Jane Armes, NSW Health Pathology, Australia spoke on “Genome Sequencing as a Diagnostic Aid” at the recent Pathology Horizons 2018 conference in N.Ireland.

In the short interview below filmed  after her presentation, Prof. Armes talks a little bit about her background, where she believes the future of genome sequencing lies, the challenges ahead and gives her thoughts on the Pathology Horizons conference.

About Pathology Horizons

Pathology Horizons is an annual CPD conference, which draws an international audience and is focused on the future of pathology. Delegates learn about new technologies, lines of research and procedural developments that are driving the future of pathology.

Unlike other larger pathology conferences, Pathology Horizons has just one conference stream allowing attendees to network more easily with both speakers and delegates.

Pathology Horizons 2019

The 2019 conference takes place in The Heritage, Queenstown, New Zealand from 8-10 August. Due to the boutique nature of this conference, places are limited. To keep informed of the agenda and when early bird registration opens, pre-register here.


Genome Sequencing as a Diagnostic Aid

There is wide acceptance of the concept of genotype-phenotype correlation in cancers. This concept has been extensively explored in breast carcinogenesis. Early work identified a strong phenotypic signature of breast cancer, which arose in patients with germline BRCA1 mutation. Subsequent data identified four broad intrinsic subtypes of breast cancer, with one being a group of “basal-like” breast cancers, referring to their over-expression of basal cytokeratin markers. Over time, and with transition of intrinsic subtyping to the clinic, the concept of triple-negative breast cancers (i.e., not expressing ER, PR or HER2 by IHC or ISH) evolved as a phenotypic surrogate for “”basal-like” breast cancers. This surrogate was acceptable, given that therapeutic targets available in breast cancer were limited to those directed at the ER/PR pathway and HER2, neither of which were expressed in basal-like breast cancers.

The genomes of several cohorts of triple negative breast cancer have since been analysed. It is clear that they are a heterogeneous group of cancers at the molecular level, with general agreement that some remain true to the basal-like genotype, whilst others have a predominant “immune-activated” or a “mesenchymal” genomic footprint. Still others are nominated “luminal androgen receptor” and are non-basal-like in their molecular profile.

Concomitantly, there has been evolving interest in targeted therapies for TNBC, including targets for basal-like and luminal androgen receptor breast cancers. However, there has been little application of this refined molecular stratification of TNBC in the clinic, possibly due to inaccessibility of genomic analysis for the majority of breast cancers and the fact that the morphological correlates of these TNBC remain under-explored. New technologies, including digital imaging of histology phenotypes, can potentially be recruited to help determine phenotypic subgroups of TNBC relevant to their genotype and therefore their potential targeted therapies. It is possible that these digitally-discovered phenotypes can be applied to stratify TNBC in the routine clinical setting.

Prof. Jane Armes, Clinical Director at NSW Health Pathology in Australia will be discussing further at Pathology Horizons 2018.

About Pathology Horizons

Pathology Horizons is an annual CPD conference that focuses on what lies ahead in pathology. This unique event allows delegates to learn about new technologies, procedural developments and lines of research that are driving the future of Pathology. Unlike other larger pathology conferences, it is a boutique event with only one conference stream. This enables delegates to interact and network with each other as well as with the expert international panel of expert speakers.

Date: 13-15 September 2018

Venue: Lough Erne Resort, N.Ireland

View full agenda
Early Bird ends 31/5/18 – View details on how to register

Development of genomic assays for multi-arm clinical trials in cancer

There are an increasing number of molecular assays being developed to guide patient treatments. There is , however, often a limited amount of material available for analysis. Almac Diagnostics have therefore developed DNA and mRNA next generation sequencing based panels that have been analytically validated to deliver multiple Biomarkers from small amounts of material. An associated comprehensive patient report has been developed to guide the best treatment in oncology trials and eventually in standard clinical practice.

During his presentation at Pathology Horizons 2018 Prof. Kennedy will discuss the challenges to implementing these kind of Biomarker panels in clinical care and how these are being overcome.

Prof. Richard Kennedy is the Medical Director and Global VP of Biomarker Development at Almac Diagnostics and the McClay Professor in Medical Oncology at the Centre for Cancer Research and Cell Biology, Queen’s University of Belfast.

Why attend Pathology Horizons?

The conference is set to be another interesting and extremely informative event with a range of top international speakers demonstrating the power of new technologies, updates on procedural developments and valuable new lines of research – all in a relaxed and open atmosphere! Unlike other larger pathology events, Pathology Horizons is a boutique conference with one conference stream, which allows you to interact and network fully with the delegates and speakers. The conference is also CPD certified and has been awarded with 9 CPD credits by The Royal College of Pathologists.

Other topics from speakers include: 

  • Artificial intelligence and what it means for healthcare
  • Liquid biopsy and what it can do for detecting/treating ovarian cancer
  • Virtual and augmented reality in digital pathology
  • Radiology and pathology integration
  • Genome sequencing as a diagnostic aid

Don’t miss out, secure your place today!

Pathology Horizons 2018                                                                                    Lough Erne Resort, N. Ireland                                                                                        13-15th September

Unique Conference Focused on the Future of Pathology

With two successful Pathology Horizons conferences on opposite sides of the globe under his belt and the third one due to take place next month, Dr. Hugh Cormican, Cirdan CEO opens up about the rationale for staging such an event and what delegates can expect to gain from attending.


Why did Cirdan start Pathology Horizons?

Cirdan has been involved in the diagnostics industry and particularly pathology since the company started in 2010. We have attended a lot of conferences and it’s very clear to us that technology and the diagnostics sector is going through huge change now, probably more than there has ever been. We found that a lot of the conferences that we attended tended to be very focused and very specific. There didn’t seem to be a forum or event focused on the future of pathology that allowed people to stand back and look at the wider picture. We didn’t see anything that highlighted what the implications for the industry are and what the implications for people like ourselves, who are a key supplier to that industry in terms of informatics systems would be. We felt that there was a gap there and that is why we set up Pathology Horizons.

Who is Pathology Horizons aimed at?

It’s aimed at all the key stakeholders in the diagnostics market, for example pathologists, laboratory managers, medical scientists and people who are suppliers to that market, including informatics companies. To date the conference has drawn a broad a mix of all disciplines interested in pathology within the diagnostics market and we would like this to continue. It’s an inclusive event, where all stakeholders can come along and share their views. We are interested in hearing their opinions on how change in the sector is going to manifest, what we need to be thinking about for the future and what the impacts of this change are likely to be.

How has the Pathology Horizons conference been received in the world of pathology?

We have received a very positive reaction so far. The people who have attended Pathology Horizons conferences have been forthcoming with praise. We started the conference on a small base and are looking to grow this and every year attendance has grown. We make the talks available online on our website for people who for whatever reason have been unable to attend the conference. We’re delighted with the extent and breadth of people who have shown interest and want to come along. Now, we’re in the very fortunate position that instead of going hunting for people to give a talk, people are coming to us offering to give presentations. I think that’s a very positive sign for the conference and the direction it’s heading in.

How have you managed to secure such a high-calibre of speaker year after year?

We hound them until they say yes. No, seriously, we attend a lot of conferences throughout the world, some we exhibit at and some we go to for our own educational or learning purposes. Therefore, we get to hear a lot of speakers give talks and see what they’re doing. If we feel they can add value to the conference and have a novel or interesting topic to share, we add them to a potential speakers list and invite them. Thankfully we’ve had a great response so far and hope this continues.

What’s planned for Pathology Horizons 2017 in Cairns?

Pathology Horizons is back in Australia this year and digital pathology is a particular area of interest there. Therefore, the conference is probably more biased towards digital pathology than it has been in previous years. We are getting a lot of interest in the subject and it is an area previous conference delegates have wanted to hear more on. Digital pathology is something that I personally have had a view on for many years. I was always of the belief that it didn’t make practical or economic sense for pathology. I held this view right up until last year. I now think that digital pathology is worth the investment. Considerable investment is needed in infrastructure i.e. hardware and software to be able to implement digital pathology in a lot of labs and I felt that it wasn’t above the gain line in terms of the work that was required. It is definitely now above the gain line. There have been some seismic changes in that the FDA have now approved it for clinical and diagnosis purposes and one of the speakers will be talking specifically about that and the impact that this has had. As well as looking at other aspects of the industry there are clearly more talks aimed at digital pathology this year.

What can delegates expect to take away from the conference?

Hopefully some surprises, some new thoughts and ideas. The conference will make delegates consider things that they hadn’t previously been thinking about or preparing for and how these will impact upon their profession. They will then leave better placed to prepare for these changes and in a position of knowledge to find out more.

The conference will provide an opportunity to network not only with other delegates but with the speakers. We just have one conference stream, so everyone will have the opportunity to get involved, give feedback and ask questions. At Pathology Horizons, everyone is part of the discussion on the future of pathology.

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Prof. Leslie Burnett will be talking ‘Genomics’ at Pathology Horizons 2017

Wprof-leslie-burnette are delighted to announce that Professor Leslie Burnett will be speaking at the Pathology Horizons 2017 Conference in Cairns this August.

Prof. Burnett will be presenting on:

“Bringing Genomics into Mainstream Medical Practice”

Prof. Burnett believes the introduction of clinically accredited Whole Genome Sequencing and the increasing availability of genomic  technologies is heralding a new era for modern medicine.

According to Dr. Burnett, these transformative techniques are more than new tests: their implementation offers huge potential for improving patient care and preventative health but challenge existing systems of test requesting, patient consent, result reporting, and clinical consultation.

In his presentation Dr. Burnett will describe the scope and range of medicine that are already being changed through the ready availability of genomics, and will provide examples of some of the surprisingly simple solutions that are being developed to support the introduction of genomics into medical practice.”

Prof. Burnett is Chief Medical Officer of Genome.One, a wholly owned subsidiary of the Garvan Institute of Medical Research. He is a passionate teacher and communicator about the genetics and genomics revolution.

Read more on Prof. Leslie Burnett

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Prof Anthony Gill to speak “Morphologomics” at Pathology Horizons 2017

We are delgill_photograph192-252ighted to announce that Prof Anthony Gill will be part of our speaker panel for the Pathology Horizons Conference in Cairns, Australia from 10th – 12th August.

He is one of many experts who will discuss the future of pathology at this  annual event.

Prof Gill’s talk titled,

“Morphologomics – Challenges for Surgical Pathology in the Genomic Age”

discusses how basic morphological approaches in the diagnostic surgical pathology laboratory have not changed in more than 100 years while other pathology disciplines, from haematology to genomics, have undergone tremendous automation practices. Prof. Gill will introduce and discuss the concept of ‘Morphologomics’, that is omics approaches critically reimagined and reappraised from the viewpoint of classic morphology.

Prof. Gill’s research mainly focuses on translating advances in knowledge gained at the basic science level into clinically useful diagnostic tests including classic morphology.

Prof. Gill is a Senior Staff Specialist in Anatomical Pathology at Royal North Shore in Sydney.

See Anthony Gill’s bio and read an abstract of his talk.

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