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Press Release

Ambry Genetics Presents Its Emerging Genetic Medicine Program and Numerous Research Contributions at American Society of Human Genetics (ASHG) Annual Meeting

Ambry Genetics
Posted on: 19 Oct 16

Ambry Genetics (Ambry) will announce its new Emerging Genetic Medicine Program during an educational event at the ongoing American Society of Human Genetics (ASHG) meeting tomorrow in Vancouver, British Columbia. Two accepted platform presentations and 11 additional scientific abstracts being presented at the scientific conference underscore Ambry’s dedication to research and its collaborative spirit.

In March, Ambry announced its AmbryShare initiative, which freely shares its rapidly growing database of anonymized genomic data from whole exome sequencing – initially focused on patients with breast and/or ovarian cancer. AmbryShare uniquely adds to the open-access community by contributing data from phenotypically curated disease cohorts. This also aligns with U.S. Vice President Joe Biden’s National Cancer Moonshot initiative to advance cancer research and open data sharing. The Emerging Genetic Medicine program will expand the AmbryShare initiative to include two additional disease cohorts, prostate cancer and autism spectrum disorders, from consented patients.

The strength of Ambry’s infrastructure and a wide interest from research partners and advocacy groups worldwide are the keys to success with the Emerging Genetic Medicine Program. Ambry will now take its expertise in novel gene discovery – a regular occurrence via its clinical exome sequencing – to an unprecedented level for a commercial diagnostic laboratory, broadening its application to additional diseases.

Brigette Tippin Davis, PhD, FACMG, Director of Ambry’s Emerging Genetic Medicine Program said, “Ambry is committed to accelerating the understanding of disease. We are uniquely positioned to help. Ambry has been at the forefront of emerging genetic discoveries and their application to healthcare since our inception. With the expansion of AmbryShare to prostate cancer and autism, we offer clinicians, patients and their families a chance to be part of something bigger. The entire Ambry family is committed to this effort.”

AmbryShare has embarked on a collaboration with the Center for Autism and Related Disorders (CARD). This specialized health care provider has nearly 100 locations across the U.S. that focus on using applied behavior analysis to treat the deficits and behaviors associated with autism spectrum disorder (ASD) and enable people affected by ASD to reach their full potential. The innovative work of CARD, in partnership with Erik Linstead, PhD, of Chapman University, is also helping to identify several clinical subtypes along the autism spectrum, which are likely to have genetic underpinnings.

“By retrospectively analyzing treatment data on thousands of individuals affected by autism, we are beginning to see patterns emerge that we anticipate will ultimately enable health care providers to maximize treatment outcomes for people diagnosed with autism spectrum disorder,” said Dennis Dixon, PhD, CARD’s director of research and development. “CARD’s collaboration with Ambry Genetics will facilitate these efforts, and the accessibility of AmbryShare is critical to future collaborative initiatives and CARD’s mission to ensure that people affected by autism have the resources they need to fulfill their potential.”

The hope is that this research will better delineate the genetics of autism and shed light on genotype-phenotype correlations that may one day lead to individualized treatments – a similar mission to U.S. President Barack Obama’s Precision Medicine Initiative.

Patients being tested at Ambry can get involved and contribute their DNA and medical information to this effort through AmbryShare. Once enrolled, Ambry is committed to contacting participants if a clinically relevant finding (such as a new gene-disease association or treatment clinical trial) arises from their AmbryShare exome sequencing at any point – so participation could benefit them personally as well.

For information on partnering in these efforts, please email or call (949) 457-4113.

Ambry’s two accepted platform presentations and 11 additional scientific abstracts will also be featured at the ASHG meeting. A highlight is today’s platform presentation by prominent Mayo Clinic cancer researcher Fergus Couch, PhD, “Cancer Risks Associated with Predisposition Gene Mutations Identified by Hereditary Cancer Panel Testing of 85,000 Patients,” which shares data from an analysis performed on Ambry’s hereditary cancer panel testing results.

For details about all of Ambry’s ASHG scientific events and ongoing research efforts, please visit here.


Ambry Genetics is a privately-held healthcare company with the most comprehensive suite of genetic testing solutions for inherited diseases. Since 1999, Ambry has tested approximately nearly one million patient samples benefiting >94% of all U.S. patients covered by public and private insurers. Ambry is dedicated to scientific collaboration by offering its rapidly growing database of anonymized genomic data (variant frequencies) free to the global medical research community to fulfill the promise of the human genome to cure or manage all human disease. Ambry is dedicated to the belief that human health should not be patented or owned, and genomic data should be freely shared so we can try to understand all human disease. For more information, visit To access Ambry Genetics’ public database of human genome data and learn more about the company’s commitment to collaboration and data sharing, visit


CARD treats individuals of all ages who are diagnosed with autism spectrum disorder (ASD) at treatment centers around the globe. CARD was founded in 1990 by leading autism expert and clinical psychologist Doreen Granpeesheh, PhD, BCBA-D. CARD treats individuals with ASD using the principles of applied behavior analysis (ABA), which is empirically proven to be the most effective method for treating individuals with ASD and recommended by the American Academy of Pediatrics and the US Surgeon General. CARD employs a dedicated team of over 2,000 individuals across the nation and internationally. For more information, visit or call (855) 345-2273.

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Last updated on: 19/10/2016

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