Genedx improves whole genome sequencing product features
Company says new features will accelerate diagnoses
Genedx said changes to its whole genome sequencing (WGS) services will allow for faster diagnoses for patients with rare genetic disorders such as aromatic l-amino acid decarboxylase (AADC) deficiency.
The company said its rapid whole genome sequencing technology, capable of screening a person’s entire genetic makeup, now delivers comprehensive written results within five days. Reducing the turnaround time — it formerly took 14 days for a written report — enables faster diagnosis and more timely treatment decisions for patients, Genedx said.
“Whole genome sequencing has transformed healthcare,” and the company “is committed to delivering comprehensive, timely information to families at their most critical moments,” Paul Kruszka, MD, chief medical officer at Genedx, said in a company press release. “These significant improvements to our whole genome sequencing, combined with GeneDx’s unrivaled dataset, means a faster and more accurate diagnosis that will ultimately lead to better health outcomes for patients today and in the future.”
More Genedx whole genome sequencing improvements
The company said DNA samples can now be obtained from cheek swabs, a more user-friendly and non-invasive collection method than blood samples, especially for young children.
Genedx is now also able to profile a higher number of repeats expansions using its WGS techniques. Several rare genetic disorders, such as Friedreich’s ataxia (FA), are caused by an expansion of a trio of DNA building blocks (nucleotides) within a specific gene.
“Genome sequencing offers a pivotal advantage: the capability to detect various types of genomic variations through a single, comprehensive test — an advancement far surpassing the tiered testing approach with panels,” said Monica Hsiung Wojcik, MD, a neonatologist and clinical geneticist at Boston Children’s Hospital.
Evidence continues to suggest genome sequencing is “the primary diagnostic tool for individuals suspected of rare diseases, especially with ongoing improvements in cost and accessibility,” Wojcik said. “Its streamlined approach to genetic diagnosis delivers profound benefits for both families and healthcare systems.”
AADC deficiency is caused by mutations in the DDC gene, which causes a shortening of vital brain signaling chemicals. Genetic testing is often required to confirm the presence of a disease-causing mutation and establish its diagnosis.
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