Next Generation

Next Generation Sequencing

SydPath offers an expanding suite of molecular diagnostic assays for cancer diagnosis – some based on immunohistochemical detection of aberrantly expressed or abnormal protein (eg. MMR enzymes, HER2, ERG), some using in situ DNA hybridization (eg. HER2, ALK, EGFR, 1p19q, MET) and some employing PCR-based detection of mutations in extracted DNA (KRAS, EGFR, BRAF).

Each tumour is different, driven by certain key mutations/genetic rearrangements, creating a “fingerprint” or profile. Targeted therapies for specific mutations can then be used to treat the cancer. Common practice is to classify the cancer by the organ of origin.

Tumours are now starting to be classified by their driver mutations, leading to more appropriately targeted therapies. The current handful of available biomarker assays can easily miss a driver mutation.

Whole genome sequencing, in conjunction with extensive bioinformatics analysis, allows for the identification of these driver mutations. Advances in next generation sequencing are permitting faster and cheaper DNA sequencing.

The Centre for Clinical Genomics (CCG) is a developing collaboration between the Garvan Institute of Medical Research and St Vincents’s Hospital Sydney Limited, utilising the latest sequencing technology, and world leading bioinformatics.

Without limiting its role to cancer, The CCG will:

  1. undertake advanced research in analysis and understanding of the medical biology of the genome, epigenome and transcriptome, and develop informatics tools and capability to enable accurate interpretation of genomic data and evaluation of clinical utility;
  2. offer a genomic testing service for the diagnosis, molecular interpretation and treatment guidance of disease, based on clinically validated genetic tests; and
  3. provide training programs in genome informatics for researchers and education programs in genomic science for clinicians and the general public.

Representing St Vincents Hospital in the collaboration, SydPath will establish a NATA accredited facility, providing high quality research and standard-of-care diagnostics, and further evolve our suite of molecular diagnostic assays.