Rapid genetic testing may help speed up AADC deficiency diagnosis

Effort by GeneDx, Epic Aura will make technique more available for NICUs

Patricia Inácio, PhD avatar

by Patricia Inácio, PhD |

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Two people look lovingly at a newborn.

GeneDx is teaming up with Epic Aura to make its genetic sequencing techniques widely available for newborns in intensive care units (NICUs).

The goal is to accelerate the diagnosis of rare genetic conditions, such as aromatic l-amino acid decarboxylase (AADC) deficiency, to shorten a patient’s diagnostic odyssey and improve care.

GeneDx’s rapid whole genome sequencing (rWGS) is able to screen the entire genome, the complete set of genes in a person’s body, and provisional results are able to be accessed within five to seven days.

“Access to rWGS leads to improved patient outcomes by accelerating the timeline between diagnosis and treatment. [T]oday’s announcement affirms our commitment to opening up access to our rWGS services for health system partners, providers, and families who are in need of diagnosing a baby in the NICU,” Katherine Stueland, president and CEO of GeneDx, said in a company press release.

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Streamlining connections

Integrating Epic’s Aura network allows a streamlined connection between clinical centers and hospitals with specialty diagnostic labs. Healthcare organizations only need to maintain one pair of Epic Lab interfaces to connect with all performing labs in the network. This means healthcare organizations can speedily communicate with specialty diagnostic labs, ensuring a faster turnover of results.

“Leveraging the world’s largest genomic data base in rare diseases, orders of magnitude larger than any other peer, we believe it’s the right time to lean in and improve solutions for our providers to deliver the best patient care,” Stueland said.

AADC deficiency is a rare disorder caused by mutations in the DDC gene and leads to a lack of critical brain signaling chemicals. Like other genetic conditions, genetic testing to confirm the presence of a disease-causing mutation is one way to establish its diagnosis.

GeneDx has more than 20 years experience in diagnosing children with rare diseases. The company is responsible for more than 80% of the whole exome sequencing services conducted in clinics in the U.S.