Ambry Genetics Leads in Clinical Contributions to GenCC, a Public Database to Inform the Relationship Between Various Genes and Diseases

July 13, 2021


Ambry Genetics
1 Enterprise
Aliso Viejo, CA 92656

(Aliso Viejo, CA) July 13, 2021: Ambry Genetics Corporation (Ambry), a Konica Minolta Precision Medicine (KMPM) company and leader in clinical diagnostic testing, has been the leading organization in contributions to The Gene Curation Coalition (GenCC) Database since its launch in December 2020. This coalition of public and private research and commercial entities work together to facilitate the consistent assessment and validation of gene-disease relationships to unify standards and terminologies for socially shared collaborations on gene curation projects. 

“We know our contribution to this data is vital in providing the right diagnosis to healthcare providers and their patients,” said Tom Schoenherr, Chief Executive Officer at Ambry Genetics. “In addition, these advancements will assist in shaping our technological platforms CARE™ and LATTICE™ by providing relevant data to make informed healthcare and therapy decisions. It's exciting to be leading and innovating in this space".

Ambry has pioneered the discovery of several gene-disease relationships, including the KCNN2 gene. These gene mutations are now known to cause a KCNN2-related neurodevelopmental disorder which commonly presents with tremor and extrapyramidal movements. Though the variant in the KCNN2 gene had previously been associated with neurological disorders in animals, association in humans was unknown in 2016 when Ambry Exome team scientists were able to identify and report rare, de novo variants in this gene as a potential cause of disease during exome analysis of uncharacterized genes in a patient with a previously unsolved neurodevelopmental disorder. In the fall of 2020, Ambry, in collaboration with researchers at the Paris Brain Institute (ICM) of La Pitié Salpêtrière University Hospital in France, and other global collaborators, published on the new gene in the peer-reviewed scientific journal Brain.1  After issuing reclassification reports on patients with KCNN2 sourced through Ambry’s Patient-for-Life Program, Ambry added the gene to its appropriate neurology test panels in December 2020 and currently offers the KCNN2 gene in its test menu. The collective data shows that there is "Strong" clinical validity for the role of KCNN2 in this syndromic neurodevelopmental disorder and Ambry plans to submit this gene-disease relationship to the GenCC database.

Since the GenCC Database launched in December 2020, Ambry has contributed over 1,460 curated published genes on their website, more than any other single public or private entity globally, including national research entities and private industry groups. Ambry’s contribution is attributed to its history as a pioneer of clinical validity standards, especially among private industry groups, launching the initiative back in 2015.

In addition, ACMG updated their recommendations for exome and genome secondary findings in the May 2021 publication of Genetics in Medicine2, an ACMG-published monthly journal focused on medical genetics. Ambry updated its exome menu on June 14 to include all 73 genes on the ACMG v3.0 list, making it among the first labs to address the ACMG recommendations. The recommendations developed by the ACMG Secondary Findings Maintenance Working Group (SFWG), convened by the Board of Directors, evaluate the minimum list of genes assessed in individuals undergoing clinical exome and genome sequencing.

1 Mochel, Fanny et al. “Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.” Brain : a journal of neurology vol. 143,12 (2020): 3564-3573. doi:10.1093/brain/awaa346

2 Miller, David T et al. “ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG).” Genetics in medicine: official journal of the American College of Medical Genetics, 10.1038/s41436-021-01172-3. 20 May. 2021, doi:10.1038/s41436-021-01172-3

About Konica Minolta Precision Medicine, Inc.

Konica Minolta Precision Medicine, Inc. (KMPM) is a comprehensive precision diagnostics company dedicated to advancing technologies that accurately predict, detect and treat disease. Powered by proprietary software platforms, best-in-class genomics technology from Ambry Genetics Corporation, and industry-leading radiology and pathology services from Invicro, LLC, KMPM is uniquely equipped to collect, analyze, and report on multi-modal precision diagnostic data sets. This comprehensive approach will drive clinical access to novel diagnostic assays through the company's extensive network of healthcare providers and pharmaceutical partners.

About Ambry Genetics ®

Ambry Genetics, a subsidiary of REALM IDx, Inc., translates scientific research into clinically actionable test results based upon a deep understanding of the human genome and the biology behind genetic disease. It is a leader in genetic testing that aims to improve health by understanding the relationship between genetics and disease. Its unparalleled track record of discoveries over 25 years, and growing database that continues to expand in collaboration with academic, corporate and pharmaceutical partners, means Ambry Genetics is first to market with innovative products and comprehensive analysis that enable clinicians to confidently inform patient health decisions.

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