About the OneScreen Study


In NSW, genetic carrier screening has been offered for twenty-five years to students and community members with Ashkenazi Jewish ancestry. The current Community Genetics Program tests for gene faults (‘variants’) involved in nine genetic conditions.

Recent advances in DNA testing technology have made it possible and affordable to analyse all of a person’s DNA – their genome – in a single test. This means that one test can provide information about many more conditions than previously possible. The information from a genome-wide test can also be reanalysed over time, in line with new discoveries.

The OneScreen Community Genomics study will operate alongside the current Community Genetics program to measure how often different genetic variants occur in participants from the Australian Ashkenazi Jewish community. Researchers will use this information to model the potential health and public benefits of including extra genetic conditions in future screening programs.

OneScreen is a research study because, until we have analysed the data and engaged with the community, we won’t know which approaches will be of benefit to the community.

Partnering with the Jewish community allows us to work with groups and individuals who are engaged and motivated to realise the benefits of these technological advances.

Research team

The research team includes clinicians, project managers, educators and laboratory and computer scientists led by pathologist Professor Leslie Burnett. Professor Burnett was the founding Medical Director of the original Community Genetics Program and remains an honorary advisor to the current Community Genetics Program (NSW).

Professor Leslie Burnett 
Principal Medical Geneticist; Medical Director,
Kinghorn Centre for Clinical Genomics

Associate Professor Sarah Kummerfeld
Head Kinghorn Centre for Clinical Genomics (Scientific)

Mary-Anne Young
Head Kinghorn Centre for Clinical Genomics (Clinical)

Karen Kresner
Community Representative

OneScreen has the support of the Advisory Committee of the existing NSW Community Genetics Program. It is establishing an Advisory Board to guide study development comprising representatives of: the Kinghorn Centre for Clinical Genomics, Wolper Jewish Hospital, and Jewish community leaders.

The Onescreen study has been approved by the Northern Sydney Local Health District Human Research Ethics Committee (HREC Reference number LNR/14/HAWKE/30).