The deciphering of the human genome and associated epigenome is creating many new opportunities to improve the diagnosis and management of human diseases arising from inherited, sporadic or somatic genomic variants. Genetic pathologists contribute to the multidisciplinary range of skills required within pathology services to aid in the diagnosis, management and treatment of patients with disorders arising from genomic mutations. In addition to sound background knowledge of cell biology and human genetics, genetic pathologists require a growing range of computing, informatics and statistical skills to analyse the high volumes of genomic data, which are generated by technology platforms such as massively parallel sequencing. Genetic pathologists provide specialist advice to laboratory and clinical colleagues regarding test selection and interpretation of results of biochemical genetic and medical genomic assays.
More on Genetic Pathology...