Assistant editor Ian Bolland explains how a genomics-based personalised risk assessment is aiming to improve screening programmes for breast cancer.
DNA analysis
Healthtech company Sophia Genetics has developed a personalised risk assessment test for breast cancer called Prevent.
The test, a decision aid for health professionals, involves a saliva swab and questionnaire which is supported by over 10,000 breast cancer genomic profiles and 10 years of research.
The objective behind Prevent has been for women to receive breast cancer screening at an age they require it rather than the age range in which they qualify for it, with free screenings usually offered to women aged 50 and above. It is thought that close to 50% of women diagnosed with breast cancer are not within the age range required to do a free screening.
It has been trialled at Imperial College London Healthcare NHS Foundation Trust under the guidance of Dr Jonathan Krell, consultant medical oncologist who says it has “potential to improve breast screening programmes, so women are checked when they actually need it.”
David Cox, a researcher and the clinical application product manager at Sophia Genetics explained to European Pharmaceutical Manufacturer how the product was put together by combining expertise in genetic epidemiology, statistics and user interfaces.
He said: “Prevent would not have been possible without the Human Genome Project, which was first published in 2003. Since then, there has been an explosion of our capacity to understand and use genetic variability for health purposes.
Prevent works by taking into account both genetic and non-genetic factors when assessing the risk for a patient.
“The genetic variations used are very common variants that only slightly influence risk individually. However, when taken as a whole, they are powerful tools for risk stratification. The non-genetic factors are well established from decades of research and are mainly related to reproductive history and lifestyle,” Cox said.
Cox thinks that such screening technology will be used in the future when it comes to the detection of cancer. While refining the risk estimate for a given woman and by increasing the precision with which risk is estimated, it can allow for more targeted steps towards prevention.
When it came to how the product may be developed in the future, he explained that up-do-date research and work is integral.
He said: “Including new results is paramount to our vision of Prevent. Being able to provide the most up to date, most relevant insights for physicians is a main goal of every Sophia Genetics product. In December, a paper was published from an international consortium of breast cancer studies proving association between over 300 variants and breast cancer risk. We have designed Prevent to be able to rapidly adapt to such new knowledge, and will integrate this into our algorithms.
“Genomics is still a rapidly expanding and advancing field. The potential to apply genomic solutions to health is enormous. In the near future, using technology such as Prevent will quickly bring some of the promise of personalised medicine into everyday use in the clinical setting,” Cox concluded.