New Zealand | Pathology Horizons

Dr. Louise Harewood is the Scientific Lead for the Genomics division of the Precision Medicine Centre (PMC) in Belfast, Northern Ireland. The PMC is a new clinical laboratory that brings together high-throughput genomics, digital pathology and big data analytics in a fully integrated fashion. The aim of the centre is to accelerate the translation of potentially relevant diagnostic, prognostic and therapeutic findings into clinically actionable information by applying state-of-the-art technology in a clinical laboratory environment.

Louise has a strong genomics background, based largely around structural rearrangement and copy number variation detection, 3D nuclear organisation and genome regulation. Before joining the PMC, she held a position as an independent postdoc in the Innovation lab at the Cancer Research UK Cambridge Institute, a post created for her to enable continuation of a previous postdoc project and to bring in and develop new techniques within the building.

Talk Title: Cancer Genomics: A Precision Medicine Centre Perspective

Genomic abnormalities play a pivotal role in cancer diagnostics and prognostics, as well as helping to guide treatment choices for individual patients. Although genomic techniques to detect single gene mutations have long since been established in the clinical diagnostic workflow, many other actionable or diagnostic abnormalities, such as structural or copy number variants, continue to be detected by other methods (e.g. FISH, array based methods or cytogenetics) with many different tests often being required for a single patient.

Whilst genomic sequencing techniques, such as whole genome sequencing, can provide all of this information, they have historically been hindered by high costs, long turnaround times and a lack of suitable bioinformatic analysis tools. This, however, is rapidly changing: – per base sequencing costs have dramatically reduced and sequencing has entered the realms of affordability for many clinical labs. Library preparation and sequencing protocols continue to be improved and made more amenable to automation. There are also a host of computational analysis tools now available on the market with others being continually developed.

The time is approaching when large-scale genomic analyses will be able to replace the multiple individual tests that are currently undertaken for clinical diagnostic purposes in many labs. The generated data will not only allow treatment to be more accurately tailored to individual patients, but also provide vital information about cancer subtypes, risk stratification and provide a vast collection of data that can be re-mined as new biomarkers are discovered.

In this talk, Dr. Harewood will discuss some of the approaches that they are investigating within the PMC with the aim of bringing new genomic technologies into the clinical diagnostic field.

Pathology Horizons 2019

Pathology Horizons is an annual and open CPD event organised by Cirdan to discuss what developments lie ahead in Pathology and what we can do to prepare or take advantage of these. Dr. Harewood will be joined by 13 more international industry experts with some of the topics including:

FHIR: transforming the pathology business relationship
Cancer Immunotherapy Biomarker
Digital Pathology
Light-sheet Microscopy
Machine Learning in Pathology
ctDNA testing for cancer

**Given the boutique nature of this conference places are limited, so please book early to guarantee your place.** Find out more about the speakers, agenda and registration here.

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The use of metagenomic sequencing is becoming well-known in human microbiome testing. As high-throughput sequencing becomes more readily available and cost is lowering, more medical testing laboratories are considering the clinical use of shotgun metagenomics.

Clinical applications include identification of infectious agents directly from specimens, including when pathogens are not readily detected using conventional diagnostics. The diagnosis of systemic and central nervous system infections are examples of breakthroughs that have been described. In addition to pathogen identification and microbiome analysis, metagenomics can also be used to explore potential antimicrobial resistance. Clinical metagenomics can assist with therapeutic decision-making, as well as infection prevention and control. Understanding the benefits and barriers in the context of the clinical application is necessary to ensure safe clinical practice and determine regulatory compliance.

In this presentation, Schlebusch will decode and explore the use of metagenomics in clinical practice.

About Dr. Schlebusch

Dr. Schlebusch is an experienced clinical microbiologist recognised for her research, expertise and implementation of innovative technologies for diagnosis of infectious diseases and antimicrobial resistance. She has been the Director of Microbiology at Mater Pathology in Brisbane for the last 7 years. She has recently been appointed as Staff Specialist at Forensic and Scientific Services, Health Support Queensland. Forensic and Scientific Services is Queensland’s reference laboratory for notifiable conditions and routinely performs whole genome sequencing for disease surveillance, disease outbreaks and research.

Pathology Horizons | 8-10th August 2019

Dr. Schlebusch will present on Clinical Metagenomics at the Pathology Horizons conference in Queenstown, New Zealand.

The conference is an annual and open CPD event organised by Cirdan to discuss what developments lie ahead in Pathology and what we can do to prepare or take advantage of these. Dr. Schlebusch will be joined by 13 more international industry experts with some of the topics including: