Genetic Counselling research
The research strategy being developed for the Discipline aligns with the principles and practices of Genetic Counselling and advances in the field of genetics and genomics.
The research will be relevant to all those who are involved with or affected by issues concerning genetics and genomics, including clients, families, communities, the general public, health professionals from all disciplines, industry and policy makers.
The types of research undertaken will include exploratory studies, the development of interventions to improve practice and education, the translation of research findings into practice and evaluation and outcome studies.
Research will include all aspects of genetic counselling such as:
- Access to, communication about, experience and impact of genetic and genomic assessment, counselling, testing and management
- The development of evidence-based interventions and approaches to improve care, understanding, experiences, communication or education
- Evaluation of the translation of evidence into practice
- The content, process and outcomes of genetic and genomic counselling
- Professional and educational issues for health professionals who practice aspects of genetic and genomic counselling
Current higher degree research opportunities
We invite expressions of interest for Master of Genetic Counselling (Research) or PhD students in the following topic areas:
- Parent decision making for inherited conditions: investigating how parents make decisions on behalf of their child in families living with genetic conditions
- Improving diversity in genomics research: investigating how individuals from diverse backgrounds and those living with disabilities can be better supported to participate in genomics research
- Neurodevelopmental conditions and genomics: investigating how genomics can impact diagnosis, care and treatment for individuals with neurodevelopmental conditions
Students will have the opportunity to work across disciplines and learn a range of methods including:
- Mixed methods
- Qualitative interviews and focus groups
- Quantitative survey design and analysis
- Scale development
- Best-worst scaling
- Dyadic analysis
- Moderation analysis
For research or supervision enquiries
For research scholarship enquiries
Graduate School of Research Student Support Office
Phone: +61 2 9514 1336
Current research projects at UTS
Genetic information for families of the terminally ill: Developing evidence for a palliative care intervention using mixed-methods (The GIFT project)
Stephanie White’s PhD project aims to describe the barriers and facilitators to, and propose actions to optimise, integration of genetics and genomics into the routine care of palliative care recipients and their families. A systematic review of the barriers and facilitators faced by nurses and physicians across a variety of specialties will be followed by a program of qualitative and quantitative studies. Stephanie is supervised by Professor Jane Phillips, Director of IMPACCT, and Dr Chris Jacobs, senior lecturer in genetic counselling.
This project is funded by a Translational Cancer Research Network PhD Scholarship Top-up award, supported by the Cancer Institute NSW. Further information about the project can be found at the TCRN website.
Genetic counselling for inherited MND and FTD
We aim to identify and explore the barriers and facilitators to genetic counselling for motor neurone disease (MND) and frontotemporal dementia (FTD) from a patient and provider perspective. From this, we will propose a new model of genetic counselling service delivery that facilitates informed decision-making, promotes adjustment to a diagnosis of familial MND and FTD and, provides patients and families with consistent, evidence-based care.
Please contact Ashley if you would like further information about the project at Ashley.K.Crook@student.uts.edu.au
The Core Outcome DEvelopment for Carrier Screening (CODECS) Study
The CODECS study aims to improve our understanding of patient outcomes following genetic testing. Reproductive carrier screening will be utilised as a paradigm to develop the first example of a core outcome set (COS) for evaluation of the effectiveness of a genetic test. A COS represents the minimum set of outcomes that should be measured and reported in all studies on a particular topic, and the development process entails a rigorous approach to ensuring that outcomes of research are relevant to all key stakeholders, including patients. The goal of a COS is to facilitate high quality, reproducible research in its target field that ultimately can be used to inform practice guidelines and policy.
We are working with research partners at the Garvan Institute and the University of Sydney on the Genetic Cancer Risk in the Young (Cancer RisC) Study and the associated PiGeOn project, a longitudinal study examining psychosocial and ethical issues and outcomes in germline genomic sequencing for cancer.