Ambry Genetics partners in hereditary cancer research registry, PROMPT.

September 24, 2014

FOR IMMEDIATE RELEASE

Ambry Genetics
1 Enterprise
Aliso Viejo, CA 92656

Aliso Viejo, Calif., ? Ambry Genetics and researchers from Memorial Sloan Kettering Cancer Center, Mayo Clinic, Abramson Cancer Center of the University of Pennsylvania, Dana-Farber Cancer Institute and other diagnostic testing laboratories announced a research partnership aimed to recognize the significance of mutations and variants found by multi-gene testing for hereditary cancer. Participants in the Prospective Registry of MultiPlex Testing (PROMPT) will join together to create an online registry for patients that have undergone hereditary cancer testing, using the latest in next-generation gene sequencing technology.

“We are thrilled to be a leader in this initiative that examines the science of multi-gene testing, and how best to apply results to direct patient care. The study design is unique in that its goal is to reach thousands of mutation carriers, many of whom may never be seen at the types of academic or tertiary care centers where this type of clinical research is typically carried out. This improves patient access as well as the applicability of the results to the general U.S. population,” said Dr. Elizabeth Chao, Chief Medical Officer at Ambry Genetics.

In the initial phase, Ambry Genetics will provide information about PROMPT with test results for patients who have hereditary cancer multiplex panel testing and are found to carry a pathogenic mutation or variant of unknown significance (VUS).  Ambry will offer these individuals ongoing and future research opportunities needed to define the clinical significance of these mutations and VUSes. 

“Patient enrollment and longitudinal follow-up through studies like PROMPT are vital to advance our understanding of the implications of hereditary cancer panel testing. It will also be crucial for further establishing clinical guidelines for the medical management of individuals carrying mutations in moderate risk hereditary cancer genes,” said Jill S. Dolinsky, Senior Manager of Clinical Research at Ambry Genetics.

PROMPT aims to define penetrance and genotype-phenotype associations by collaborating with the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), the leading international breast cancer research consortium.  By participating in this initiative, Ambry Genetics will provide information about PROMPT to thousands of individuals who may not otherwise know about or have access to hereditary cancer research opportunities. This will also give PROMPT study investigators a vastly larger cohort for analysis, which will ultimately significantly improve the overall power and impact of PROMPT.  For more information about PROMPT, please visit www.promptstudy.org.