Posted by Kyvor Admin

A promising alternative-Whole Exome Sequencing Analysis from cell-free DNA

 12th December 2019

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Cancer Patients undergo invasive surgical biopsies which may be difficult, painful and costly. Emerging as an alternative to this is, a new technology that detects and analyses the cell-free cancer DNA from plasma commonly referred to as liquid or blood biopsy test.

This test is useful specifically for metastatic patients who might not have the tissue from a metastatic biopsy. Thousands of metastatic patients have undergone liquid/blood biopsies for building the molecular profile using whole exome sequencing that helps to closely monitor the dynamics of cancer and the evolution of drug resistance which would not have otherwise been possible in surgical biopsies.

Studies conducted by a research team developing cutting edge technologies in precision cancer diagnosis have shown matching results with data received from whole exome sequencing of cell free cancer DNA and DNA from surgically obtained tissues.Whole exome sequencing is a test used to study the functional part of the genome.The test can be done either on cell-free DNA or DNA from surgical biopsies.

At Kyvor Genomics, a 60 year old female colorectal cancer patient came to us without a surgical tissue biopsy and had exhausted all guideline recommended treatments and all guidelines recommended tests.

The patient was on Immunotherapy and had disease progression at that time.
After a thorough discussion with the treating Oncologists we decided to do the liquid/blood biopsy for the patient.

We tested cell-free cancer DNA and identified anomalies in the DNA repair pathway which could be treated with PARP Inhibitors. The patient also had acquired anomalies in MHC class I indicating that Immunotherapy would be less effective.
Her treatment regimen has changed from Immunotherapy to PARP inhibitors and is responding positively to the treatment.

With promising results from the analysis of liquid/blood biopsies, this technology will benefit thousands of patients with metastatic cancers who may not have had the opportunity otherwise.

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