Clinical Genomics

Clinical Genomics provides an overview of the various next-generation sequencing (NGS) technologies that are currently used in Clinical and Molecular Diagnostics laboratories. It presents key bioinformatic challenges and the solutions that must be addressed by clinical genomicists and genomic pathologists, such as specific pipelines for identification of the full range of variants that are clinically important. Clinical genomics is the use of genome sequencing to inform patient molecular diagnosis and care. Clinical genomics is a new and rapidly-changing field. Knowledge of the human genome is far from complete, but there are already uses for genetic and genomic information in the clinic.

        Genome sequencing is expected to have the most impact in:


Ø  characterising and molecular diagnosing rare and inherited disease;

Ø  stratifying individuals’ tumours to guide treatment (precision medicine);

Ø  providing information about an individual’s risk of developing disease or their likely response to treatment (health management)

               A major focus of genomic medicine is cancer diagnosis and therapy. Clinicians are beginning to use genomic information to predict how a person's cancer will respond to drug therapy or surgery.

               In some cases, clinicians will profile the DNA and RNA of tumour cells to guide the use of existing treatments or focus on more targeted treatments.