Ground breaking news!

Recently, Dr Jane TIller (PhD) has been successful in getting the new genetic discrimination bill into parliament, which will prevent life insurance companies from discriminating against people who carry a genetic predisposition to health problems such as cancer and cardiac disease. The article in the conversation outlines this beautifully- click read more below!

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.

This is a photo of me presenting my original research from the PreGen Study at the HGSA2025 national conference

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:

1. Long S, Goldblatt J. Noninvasive prenatal testing (NIPT) in Western Australia; Considerations in clinical practice. Aust N Z J Obstet Gynaecol. 2014;54(5):487-489.

2. Long S, O'Leary P, Lobo R, et al. Women's understanding and attitudes towards Down syndrome and other genetic conditions in the context of prenatal screening. J Genet Couns. 2017;27(3):647-655.

3. Long S, Lobo R, O'Leary P, et al. Would I have wanted to know? A qualitative exploration of women’s attitudes, beliefs and concerns about non-invasive prenatal testing for de novo genetic conditions after having a child with a de novo genetic disorder. OBM Genetics. 2021;05 (04):1.

4. Long S, O'Leary P, Dickinson JE. Western Australian women's expectations for expanded NIPT- An online survey regarding NIPT for single gene, recessive and chromosomal conditions. J Genet Couns. 2023;32 (5):1047–1056.

5. Long S, O'Leary P, Norman R, et al. Willingness to pay for expanded non-invasive prenatal screening - An online discrete choice experiment from the perspective of women living in Western Australia. Aust N Z J Obstet Gynaecol. 2024. Jul 13. Online ahead of print..

6. Long S, O'Leary P, Dickinson JE. Women's responses to prenatal genetic diagnosis and attitudes to termination of pregnancy after non-invasive prenatal testing: An online survey of Western Australian women. Aust N Z J Obstet Gynaecol. 2022;63 (2):219–227.

Other publications unrelated to her PhD include;

1. Fennell, A. P., Roscioli, T., Buckley, M., Horton, A. E., Long, S., Pharande, P., & Clucas, L. M. (2025). Lifesaving Diagnosis through Prenatal Genomic Sequencing. The New England Journal of Medicine, 393(1), 93–95. https://doi.org/10.1056/NEJMc2506080

2. Long, S., Schofield, D., Kraindler, J., Vink, R., Ross, K., Hart, N., Evans, H., Wilson, A., Hyett, J., Wakefield, C. E., Kelada, L., Scott, H., Lunke, S., Wall, M., Buckley, M. F., Fernihough, G., McGillivray, G., & Roscioli, T. (2025). The PreGen Research Program: Implementing Prenatal Genomic Testing in Australia—A Commentary. Australian & New Zealand Journal of Obstetrics & Gynaecology. https://doi.org/10.1111/ajo.13936

3. S Long, J Goldblatt. (2016) MTHFR genetic testing: Controversy and clinical implications- Australian family physician.

Global Genetic Counselling Research

As a genetic counsellor we know the field is always changing and technology is improving each day. Sometimes, we find things years after an initial genetic test result because we can reanalyse data or redo the test using new methods- but how do we ask the patients if they would like to proceed with this? This article gives some thought provoking ideas.

Views of genetic health professionals, patients, and next of kin on retesting and recontact with results from updated genetic testing

Alison Luk Young, Catherine Speechly, April Morrow, Kate Ross, Chelsea Murphy, Nicola Poplawski, Lesley Andrews, Rebecca Harris, Judy Kirk, Katherine Tucker, Chris Jacobs, Tu Nguyen-Dumont, Melissa C. Southey, Amanda M. Willis … See fewer authors

First published: 02 November 2025

https://doi.org/10.1002/jgc4.70128

With the introduction of reproductive carrier screening on Medicare it's important to know how the general public feel about this. Have a read of this cutting edge paper from the Journal of Genetic Counseling:

Prospective parents' views on reproductive genetic carrier screening: “You know better, you do better”

Chaya M. Goldman, Sharon Lewis, John Massie, Edwin P. Kirk, Allison Symons, Martin B. Delatycki

First published: 20 August 2025

https://doi.org/10.1002/jgc4.70100

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

A qualitative investigation of Ehlers‐Danlos syndrome genetics triage - Carbone - 2025 - Journal of Genetic Counseling - Wiley Online Library