Oral swabs are a viable option for genomic sequencing, research finds

Oral swabs should be considered a viable and non-invasive alternative to using blood samples in genomic testing, New Genome.One research suggests

Despite long-held concerns that oral swabs could result in reduced amount and quality of DNA, the research found oral swabs could produce results concordant with those obtained from a blood sample.

The findings were presented to the American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting in Charlotte, North Carolina this week, in a poster presentation by Genome.One Development Scientist Alex Sherstyuk.

Miss Sherstyuk said blood had traditionally been the primary way of obtaining DNA, but DNA from oral swabs was emerging as a possible alternative. DNA obtained from oral swabs avoids invasive blood tests, has a lower overall cost, and has a lower risk of infection. As well, patients can collect the sample themselves therefore it is simpler logistically.

The research poster outlined findings from a study in which DNA collection kits were given to 10 patients who performed their oral swabs. These patients had previously had a blood test and their DNA had been tested using whole genome sequencing (WGS) tests. 

DNA was extracted and quantified and the ratio of bacterial DNA to the total DNA was calculated.

Although the contamination of samples with bacterial DNA was found to be variable (samples had between 8-40% bacterial DNA), the research found the oral swabs still provided quality data, comparable to that from blood.

Broadening access to genomic testing

Miss Sherstyuk said there was strong interest in the use of oral swabs in many areas such as paediatrics or for people who live in rural and remote areas.

 “This opens the door to a less invasive form of testing for some patients,” she said.

Genome.one is now exploring the potential use of oral swabs for some individuals undergoing genomic testing.

The research was partially funded by DNA GEnotek Inc.

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