Genetic testing is an increasingly popular method of detecting disease risk at an early stage. Indeed, many diseases are now considered to have a genetic basis, or a biomarker, that can inform doctors about who to watch more closely and potentially treat.
Given the largely 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 sequencing technology at HMRI now allows genetic researchers to screen a patient sample for their entire genome.
Laureate Professor Rodney Scott and his team, for example, have identified a number of genetic associations in breast and colorectal cancer that inform clinical diagnosis techniques and targets for drug treatments.
Recommendations were made to include triple negative breast cancer screening (a type lacking three 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. “We have been looking at this specifically in triple-negative breast cancers but it may be applicable to others as well.”