GeneDx announced the availability of its GenomeXpress and GenomeSeqDx whole genome sequencing (WGS) tests with buccal swabs as an alternative sample collection option for biological parents or other immediate family members. Sequencing biological parent genomes alongside patient genomes—known as trio analysis—aids in disease diagnosis and greatly increases diagnostic yield rates.
“We are continuously looking for ways to broaden adoption of genome sequencing and facilitate convenient access to families to aid in disease diagnosis,” says Paul Kruszka, MD, chief medical officer at GeneDx. “Research shows diagnostic rates are highest when we can include genomic data of biological parents to classify variants of unknown significance based on inheritance patterns. Adding buccal swab as an additional sample collection method for our GenomeSeqDx and GenomeXpress WGS tests can make it easier for providers to collect parent samples for trio testing.”
Buccal swab is a convenient, non-invasive method to collect DNA from cells found inside a person’s cheek. In the case of trio testing, the diagnostic yield for positively identifying a disease-causing variant increases from 19% to 30%. In addition to its whole genome sequencing tests, GeneDx also makes buccal swab available as an alternative DNA collection method for its XomeDx and XomeDxXpress whole exome sequencing tests for patients and biological parent samples.
“We continue to turn to GeneDx for whole genome sequencing testing to accurately identify pathogenic variants that explain our patients’ illnesses,” says Tara Lynn Wenger, MD, PhD, associate professor in the Department of Pediatrics at the University of Washington and associate medical director for Inpatient Genetics Services at Seattle Children’s Hospital. “Collecting DNA from biological parents or other relatives is not always so easy. Buccal swab DNA collection for parents will streamline the process and prevent delays in testing and enable us to do a more thorough whole genome analysis.”
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