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.
Louise’s interests lie in using novel technologies, or applying currently available technologies in novel ways, to facilitate detection of structural variants and copy number aberrations from a wide range of clinical samples. Her work over recent years has involved using the chromosome conformation capture technique, Hi-C, to extrapolate this information from human cancers. In her role as Genomics Lead at the PMC she hopes to continue to build on this, and other, work with the aim of bringing new genomic technologies into the cancer diagnostics field.
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.