Genetic testing for diseases in an increasingly popular method of risk detection in medicine in recent years. Indeed, many diseases are now considered to have a genetic basis or even a biomarker in the blood which can inform doctors about who to watch more closely and sometimes who to administer certain drugs to and who not to.
Researchers in the HMRI information based medicine group combine traditionally separate fields of expertise to build important and meaningful results from large amounts of biological information.
Given the highly genetic basis of many cancers, Hunter researchers have a particular focus on using bioinformatic approaches to improve diagnosis and treatment choices for cancer patients.
High-tech and state-of-the-art genetic sequencing technology at HMRI now allows genetic researchers to screen a patient sample for their entire genome, not just the 2% of our DNA that codes for a product.
Professor Rodney Scott, co-director of the HMRI information based medicine program, has made significant advances in the field of medical genetics since the inception of the program in 2006. Professor Scott and his team have identified a number of genetic associations in breast cancer, colorectal cancer and schizophrenia that inform clinical diagnosis techniques and targets for drug treatments.
Recently, recommendations by researchers in this group were made to include triple negative breast cancer screening (a type lacking 3 of the most common receptors found in breast cancer) in normal genetic screening as an association was found with the commonly mutated genes BRCA1 and BRCA2 in cancer.
Discoveries have also been made in breast cancer diagnosis with Hunter researchers finding a subset of 27 microRNAs (small pieces of genetic information) that appear to be irregular in breast cancer patients who have developed lymph node metastases.
"This is a critical and very exciting finding because it means we may be able to use this information either to develop a treatment target or to diagnose secondary cancers earlier," Key researcher Dr Kelly Avery-Kiejda explains at the University of Newcastle. "We have been looking at this specifically in triple-negative breast cancers but it may be applicable to others as well."
In 2014, Hunter researchers also found a genetic link behind schizophrenia, identifying over 100 genetic variants in patients with the disease; the largest genome-wide study every conducted in schizophrenia. In conjunction with the Australian Schizophrenia Research Bank (ASRB), 108 variants were discovered in patients with the disease that are involved in neurotransmission, highlighting a potential therapeutic avenue. Associations were also found in genes that function in immune processes.
“The few drugs currently developed for the disease are designed to subdue the patient, they don’t target the mechanisms giving rise to schizophrenic behaviours” explains Professor Scott.
Associate Professor Carmel Loughland, manager of the ASRB, said findings of a biological association between synaptic transmission and inflammation provided a new pathway for investigating the mental, emotional and social impairment experienced by people with schizophrenia.