Genetic Counselling research

Interested in undertaking a Master of Genetic Counselling (Research) or a PhD?

Find out about higher degree research training in the area of genetic counselling:

Master of Genetic Counselling (Research)

Doctor of Philosophy (Genetic Counselling)

The following supervisors are open to receiving expressions of interest:

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 aimed 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 was followed by a program of qualitative and quantitative studies. Stephanie was supervised by Professor Jane Phillips, Director of IMPACCT, and Dr Chris Jacobs, senior lecturer in genetic counselling.

This project was 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

Ashley Crook aimed 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, she proposed 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. 

The Core Outcome DEvelopment for Carrier Screening (CODECS) Study

The CODECS study, led by Ebony Richardson, aimed to improve our understanding of patient outcomes following genetic testing. Reproductive carrier screening was used 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.

More information can be found at COMET Initiative. 

The Philosophy of Genetic Counselling

Chinmayee B Nagaraj is planning to explore and describe the philosophy of the genetic counselling profession. Genetic counselling is a relatively young and rapidly growing profession with an evolving niche within healthcare. A deliberate and robust interrogation of its philosophical foundations will help the profession with its identity and advance the profession globally with better clarity. To begin with, Chinmayee is working on a scoping review to assess the values of the profession and the purpose of the practice. Her next studies will be shaped based on her findings from the review. 

Implementation of Non-Invasive Prenatal Testing (NIPT) for prenatal aneuploidy screening in Thailand

Rapphon Sawaddisan's PhD project aims to investigate the implementation of non-invasive prenatal testing (NIPT) in Thailand. The thesis begins with an examination of the overall situation, including the enablers and barriers to the implementation of prenatal aneuploidy screening in South-East Asian countries. It will then delve into the current situation, as well as the knowledge and attitudes of both Thai healthcare providers and parents towards prenatal aneuploidy screening and NIPT. Finally, the project will propose interventions to facilitate the implementation of NIPT and address the associated challenges. 

Adolescents and young adults with genetic neurodevelopmental conditions: Strengths-based discussions and transition from paediatric to adult care

Yasmin Cathcart-King’s project aims to understand how positive psychology can be implemented to support young people with genetic neurodevelopmental conditions like Down syndrome, Austism Spectrum Disorder, and intellectual disability, transition from child to adult healthcare services. This project is starting with a systematic review of current knowledge on communicating and information sharing between healthcare professionals which is used to prepare for the transition. After which, the views and experiences of young people within the Australian context will be explored through interviews to identify common themes associated with this cohort. Finally, the results of the previous studies will be used to scaffold journal entry prompts for a two-year longitudinal study following young people through the transition. The depth of understanding gained from these studies is expected to guide us in the appropriate implementation of positive psychology while developing resources for young people with genetic neurodevelopmental conditions to support their transition from child to adult healthcare services.

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

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For research or supervision enquiries
Email FOH.HDR.Enquiry@uts.edu.au

For research scholarship enquiries
Graduate School of Research Student Support Office 
Phone: +61 2 9514 1336

The Graduate School of Health offers a range of competitive scholarships to support outstanding research students who are seeking to undertake a PhD.

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