New technique identifies tumour DNA changes in individual patients

In collaboration with Adfero

US scientists have developed a new technique that allows them to track the progression of a person's cancer by uncovering changes in their tumour's genetic material.

The advance, which is published in the journal Science Translational Medicine, takes scientists a step closer to providing personalised treatment that is tailored to individual cancer patients.

Dr Victor Velculescu, associate professor of oncology at Johns Hopkins University and senior author of the study, described the research as an "important step in bringing new genome sequencing technologies to personalised patient care".

He said: "There is currently no test for cancer patients that provides personalised biomarkers for clinical management of disease.

"We believe that this is one of the first applications of new genome sequencing technologies that could be useful for cancer patients."

The researchers used an approach called the Personalised Analysis of Rearranged Ends (PARE) to identify rearranged DNA sequences in samples taken from four bowel and two breast tumours.

These sequences are not found in normal DNA, meaning that the scientists were able to use the rearranged sequences in individual patients as personalised 'biomarkers' and identify tiny amounts of tumour DNA in blood and other fluid samples.

Co-author Rebecca Leary, a graduate student at the Johns Hopkins Kimmel Cancer Centre, explained: "PARE uses genetic characteristics unique to the tumour to monitor disease progression. By exploiting rearrangements specific to the patient's tumour, we have developed a personalised approach for detection of residual disease.

"As PARE becomes affordable, it will be a helpful addition for physicians to tailor patient care and may become a useful supplement to traditional monitoring by imaging or other approaches," she added.

Professor Peter Johnson, Cancer Research UK's chief clinician, said: "This is another exciting step down the road towards personalised cancer medicine.

"The detection of DNA changes, unique to individual cancers, has proved to be a powerful tool in guiding the treatment of leukaemia. If this can be done for other types of cancer like bowel, breast and prostate it will help us to bring new treatments to patients better and faster than ever."


  • Leary RJ. et al (2010). Development of Personalized Tumor Biomarkers Using Massively Parallel Sequencing; Science Translational Medicine 2(20)