Genetic Counselling Research
Research into the field of genetic counselling is a vital way to encourage genetic counsellors to gain greater understanding and improve their practice, improving outcomes for patients. Here we highlight my research, as well as research from around the world, relevant to the field.





Sarah's Research
My PhD research focused on a hypothetical test that is now being developed for clinical use: non-invasive prenatal testing in pregnancy for hundreds of genetic disorders. I looked at what women felt about this kind of test, the ethical concerns and implications for implementation into Australia. If you wish to read more, you can find full versions of these publications under our resources.
Publications:
Other publications unrelated to her PhD include;
Global Genetic Counselling Research
An interesting look at a difficult disorder to manage in clinic- hypermobile EDS, which has no genetic testing available. This paper takes a look at how different clinics across the US manages these complex patients:
A qualitative investigation of Ehlers-Danlos syndrome genetics triage
Kaycee Carbone, Ann Seman, Catherine Clinton, Renée Pelletier
First published: 02 July 2025
https://doi.org/10.1002/jgc4.70077