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Ambry Starts Rare Disease Study

Genetic testing firm Ambry Genetics and Pacific Biosciences of California Inc. are working together to find the genetic cause of rare diseases in pediatric patients.

PacBio (Nasdaq: PACB), a biotechnology company in Menlo Park valued at $524 million, manufactures gene sequencing technology for scientists and clinical researchers.

The two were chosen by the University of California, Irvine and the Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium to take part in a three-year research project funded by the National Institutes of Health (NIH).

Aliso Viejo-based Ambry and PacBio will analyze and sequence up to 7,000 whole human genomes using PacBio’s long-read sequencing technology.

The study will help identify the underlying cause in samples from people with rare diseases getting inconclusive results from genetic tests, according to Ambry Chief Executive Tom Schoenherr.

“This is going to bring answers to families who have been searching for quite some time,” Schoenherr told the Business Journal.

Ambry received a couple million dollars, enough to cover the cost of the exome testing, Schoenherr said.

Rare Diseases

Diseases like cystic fibrosis and Smith-Lemli-Opitz Syndrome on their own are rare, but collectively “are actually pretty common,” Schoenherr said.

One in every 20 patients suffers from a rare disease, according to Schoenherr.

Whole genome sequencing allows doctors to determine a patient’s entire genetic makeup and find variations in the genome that could be indicative of diseases like cancer.

This can be done using short-read or long-read sequencing techniques.

The NIH-funded Ambry and PacBio study is utilizing long-read sequencing technology. As the names suggest, long-read sequencing produces longer reads of DNA fragments than short-read sequencing, according to Schoenherr.

“A large portion of rare diseases are genetic,” he said. “So being able to sequence the whole genome gives us a much fuller picture than short-read technologies.”

The two collaborating companies will use PacBio’s newly released long-read sequencing system, Revio, to sequence 7,000 whole human genomes for the study.

PacBio began commercializing Revio last year and is said to be capable of sequencing up to 1,300 whole human genomes per year.

The study will also enroll patients whose exomes were previously sequenced in Ambry’s Patient for Life program. The program has a database of clients who have sent in samples for testing and received negative or unknown results, then reanalyzes their exome data as new gene discoveries come out.

“Ambry is the only genetic testing company in the industry that offers a program like this,” Schoenherr said.

Core Business Growth

Schoenherr said that 2023 was one of the most successful years for Ambry Genetics.

“Last year, we really zeroed in on our core business, which is hereditary cancer testing,” he said.

The company performed hereditary cancer testing for over 300,000 patients, helping grow the business financially by more than 30%.

This year, Schoenherr expects Ambry to grow again by 25% as it prepares to launch two new products called the Exome Reveal in late summer and CancerNext in late fall.

Schoenherr’s goal is for the company to stay in the black, which “is rare in our business,” he said.

One of Ambry’s main competitors, Invitae Corp. (OTC: NVTA), recently filed for Chapter 11 bankruptcy protection in February.

The San Francisco-based genetic testing company received court approval for a five-month bankruptcy sale process that would allow Invitae to find a buyer and exit Chapter 11 by late July, according to Reuters.

“We have been the beneficiary, if you will, of their unfortunate business model,” Schoenherr said.

Ambry, founded in 1999 by Charles Dunlop, was bought by Tokyo-based Konica Minolta Inc. for about $1 billion in 2017. The Business Journal in 2017 named Dunlop as its Businessperson of the Year in the healthcare space.

Best known as a maker of printers and cameras, Konica Minolta decided to pivot into the medical industry when it acquired Ambry.

Ambry is a subsidiary of Realm IDx Inc., previously named Konica Minolta Precision Medicine, as the genomic testing arm of Konica Minolta.

Schoenherr first joined Ambry in 2017 as chief commercial officer and more than doubled Ambry’s business and test volumes in the four years prior to becoming CEO in 2021.

Ambry is now responsible for the majority of the $350 million in annual sales of Konica’s Realm IDx unit.

It has a 65,000-square-foot lab that employs around 380 people locally in Orange County.

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Sonia Chung
Sonia Chung
Sonia Chung joined the Orange County Business Journal in 2021 as their Marketing Creative Director. In her role she creates all visual content as it relates to the marketing needs for the sales and events teams. Her responsibilities include the creation of marketing materials for six annual corporate events, weekly print advertisements, sales flyers in correspondence to the editorial calendar, social media graphics, PowerPoint presentation decks, e-blasts, and maintains the online presence for Orange County Business Journal’s corporate events.
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