Natera launches Zenith genomics to help speed rare disease diagnosis
Platform may help improve guidance for targeted therapies, clinical management
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Natera has launched Zenith genomics, its next-generation genetic testing platform designed to improve the detection of rare diseases, such as aromatic l-amino acid decarboxylase deficiency.
The platform uses whole-genome sequencing — a laboratory process that reads a person’s entire genome, or complete DNA sequence — and interpretation technology to help shorten the time it takes to diagnose and manage rare diseases. This may improve guidance for targeted therapies and long-term clinical management.
The platform was presented at the 2026 American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting, held last month in Baltimore.
“Rare disease patients and their families endure lengthy and costly diagnostic journeys that often delay care and escalate emotional and financial strain,” Meredith Reichert, PhD, Natera’s senior vice president of commercial and general manager of rare disease, said in a press release. “By combining MyOme’s innovation with Natera’s nationwide presence and clinical expertise, Zenith has the potential to transform rare disease diagnostics and provide definitive answers to more families.”
Whole-genome sequencing reads nearly the entire genome
People with rare diseases often experience prolonged diagnostic journeys, taking an average of four to seven years to reach a diagnosis. This delay imposes not only a personal burden but also an economic one, including medical and non-medical costs.
Genetic tests frequently use exome sequencing, which reads only the parts of DNA that code for proteins, but not the noncoding regions that help regulate how genes are activated.
Whole-genome sequencing reads nearly the entire genome, including noncoding regions, which may reveal mutations and other genetic changes that are missed by exome sequencing alone. This may improve data interpretation and resolve difficult diagnostic cases.
Zenith genomics technology can analyze mutations involving short DNA sequences that are repeated consecutively, genetic variants in which parts of DNA are missing or abnormally repeated, and the mitochondrial genome, the circular DNA molecule within mitochondria (the cells’ powerhouses) that may also contain disease-causing mutations.
Our mission at MyOme has always been to unlock the full potential of the genome to improve health outcomes. Partnering with Natera allows us to scale Zenith rapidly and responsibly, ensuring that advanced sequencing tools reach the patients who need them most.
It also provides a comprehensive report that includes disease-causing mutations and mutations of uncertain significance associated with the patient’s features. It can optionally deliver secondary findings recommended by the American College of Medical Genetics and Genomics — disease-causing mutations in specific genes unrelated to the primary testing cause, which may reveal risks for preventable or manageable diseases.
Complementary reanalysis using multiple samples is also performed every year, starting one year after the initial report, to validate findings and improve diagnosis by identifying new evidence that may be missed in a single analysis.
The underlying technology was developed by Myome, which established an exclusive partnership with Natera to bring the platform to healthcare providers in the U.S.
“Our mission at MyOme has always been to unlock the full potential of the genome to improve health outcomes,” said Akash Kumar, MD, PhD, chief medical officer at MyOme. “Partnering with Natera allows us to scale Zenith rapidly and responsibly, ensuring that advanced sequencing tools reach the patients who need them most.”
