Our Research
Polygenic risk scores (PRS) are a new type of genetic test that can provide people with information about their chances of developing a health condition. PGS testing is not yet routinely used in healthcare and there is limited research on their clinical utility in improving health outcomes. Our team is leading implementation of PRS in clinical practice through several studies:
Polygenic Risk in Clinical Practice
Mainstreaming Genomic Testing
Traditionally, genomic testing has been offered in specialist clinical genetics services by clinical geneticists and genetic counsellors. However, given the increasing clinical utility of genomic testing, new models of care are needed to meet service demands.
Mainstreaming occurs when genomic testing is integrated into routine care and delivered by embedded genetic counsellors or upskilled non-genetic clinicians. Our team is leading several studies on mainstreaming genomic testing:
Consideration of ELSI is vital to understanding the impact of genomic technologies. ELSI research captures how genomics can impact individuals, families, communities and health services. Key aspects of ELSI research include supporting equitable access to genomic testing and understanding how these issues impact underrepresented communities. Our team is leading several studies on mainstreaming genomic testing across several areas of healthcare:
Ethical Legal and Social Issues (ELSI)
Our genes provide the information our bodies need to grow, function and develop. Sometimes changes to the instructions in our genes can cause health conditions. Understanding how our genes can impact our health can help us to provide improved treatments, inform family planning decisions, and identify at-risk family members. Our team is leading several studies on gene discovery and understanding the genetic contribution to health conditions:
Gene Discovery
Research projects which have been completed: