CRISP-DNA: The feasibility of assessing bowel cancer risk using genomic testing to target screening in general practice

Project Details

The aim of this study is to examine the feasibility and acceptability genomic testing for colorectal cancer (CRC) risk in a general practice setting.

Key Questions:

  1. What is feasibility and acceptability of genomic testing for CRC risk?
  2. What is the effect of the genomic risk profile on participants’ risk perception, perceived control over developing cancer, perceived causes of cancer, cancer-specific anxiety, perceived self-efficacy to do CRC cancer screening, cancer screening intentions and cancer screening behaviour compared with baseline measures?
  3. What is the concordance of participants’ screening recommendations based on genomic risk and standard recommendations based on current NHMRC guidelines?
  4. What is the estimated effect size of the genomic risk profile on participant screening behaviours and intentions?

There are approximately 15,000 new diagnoses of colorectal cancer (CRC) in Australia every year. Later stage CRCs are more likely to have a poor outcome. Immunologic faecal occult blood testing (iFOBT) is provided biennially via the National Bowel Cancer Screening Program (NBCSP) to 50-74 year olds with the objective to detect CRC early. However, uptake of screening tests is low at 39%.

The current model of whom to screen and at what ages is crudely based on risk (e.g. FOBT starting at 50 and colonoscopy recommended to those with a family history), however on the whole these methods of determining risk are outdated. There are many well-established risk factors for CRC, including lifestyle factors such as smoking, BMI and red meat intake, as well as 45 genomic factors that have been associated with risk.

A more efficient screening program could estimate risk using a genomic test and recommend no screening, FOBT or colonoscopy to patients based on absolute risk, with these recommendations changing as a patient ages and their risk of colorectal cancer increases.

It is likely that genomic testing will in the future take place outside the realm traditional genetics services. To deal with the potential scale of testing and to facilitate equity of access, it would be logical to utilise the existing infrastructure of general practice to administer such a genomic test on a large scale. However, the question of additional burdens to these services, including the existing lack of time with patients, still needs to be addressed. This study will look at the feasibility of performing genomic testing for CRC risk prediction within a GP setting, where the pre-test counselling is not as extensive as with traditional genetic testing. Measuring if participants are able to make an informed decision regarding testing will provide a measure for feasibility. The study will also provide evidence for the utility and mechanisms of genomic risk information to encourage screening adherence.


Sibel Saya, PhD candidate
Professor Jon Emery, Herman Professor of Primary Care Cancer Research, Project leader
Dr Jennifer Walker, Senior Research Fellow, Cancer in Primary Care
Professor Ingrid Winship, Professor of Adult Clinical Genetics, Melbourne Health
Professor Mark Jenkins,  Director of the Centre for Epidemiology & Biostatistics
Associate Professor Dan Buchanan, Senior Research Fellow, Oncogenomics Laboratory


Sibel Saya is supported by an Australian Government Research Training Program Scholarship.

Research Group

Cancer in Primary Care

Faculty Research Themes


School Research Themes

Cancer in Medicine

Key Contact

For further information about this research, please contact the research group leader.

Department / Centre

General Practice

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