A: Ambry Genetics is a recognized leader in high quality complex genetic testing. We seek to find the genomic cause or contributors to rare diseases, abnormal phenotypes and hereditary disorders. This is accomplished with a diverse team of expert professionals and a state of the art super-lab where testing is performed.

A: There are several factors that make us unique. We are a 20 year old genomic company with a long heritage of innovation. We launched the first genomic test for cystic fibrosis in 1999, the first test for Lynch syndrome in 2003, the first commercial next-generation sequencing assay in 2010 and the first CAP/CLIA exome test in 2011. We are seeking actionable answers for patients. While many labs offer NGS testing with a basic report, we are differentiated in several key areas:

1. Confirmatory testing: Our NGS pipeline has been extensively optimized with over 20,000 samples in which all nonpolymorphic variants were Sanger sequenced. Our data published by Mu et al in the Journal of Molecular Diagnostics in 2016 highlights the importance of setting quality thresholds and confirming NGS findings with Sanger sequencing and other technologies, such as MPLA, microarrays, and PCR. Findings in complex genomic regions including A/T rich regions, G/C rich regions, homopolymer stretches and pseudogene regions, may be false positive results and should be confirmed by an orthogonal method.
2. Our team of experts: Ambry has about 800 employees focused on delivering the highest quality results to patients because once you are our patient, you are our patient for life. We have experts in all facets of the testing process from running the most comprehensive and accurate genomic testing, to analyzing and interpreting the findings with best in class processes, to reporting the patient’s results in a comprehensive and understandable manner. Our team of genetic counselors is world-class and available to clarify any and all findings.
3. Variant interpretation: Ambry is a leader in variant interpretation. Reviewing data from population databases, published data and our proprietary Ambry database of over 1 million test allows us to better classify variants into an actional category and minimize the number of variants classified as variants of unknown significance. Ambry’s translational genomic lab has demonstrated our ability to reclassify a specific type of variant known as splice variants. Prior to RNA studies in our translational genomics lab, 92% of splice variants are classified as variants of unknown significance, but after RNA studies performed in our lab only 8% remain as variants of unknown significance with the rest being resolved as likely benign or likely pathogenic.
4. Detailed reporting: Ambry produces the highest quality reports with clear comprehensive results, interpretation and explanation.

A: I have recently joined Ambry Genetics as the Chief Medical Officer for Advanced Genomic and Pathology Services in a joint role with Invicro, a leading imaging CRO. Both companies were acquired by Konica Minolta in 2017 as it creates a precision medicine business. Konica was founded in 1873 and Minolta was founded in 1928. In August 2006, the company divested its original core businesses of film and camera transforming itself to remain a leading company in the 21rst century. Konica Minolta, through its research and development efforts, continues to be a leader in several core technologies including imaging, optics, nanofabrication and materials. With a customer base of over 2 million companies and sales in over 150 countries, we are well positioned with a global footprint and the ability for further expansion. Our R&D efforts have allowed us to leverage our core technologies to create a high sensitivity detection system for routine immunohistochemistry. The product based on phosphor-integrated dots or PIDs, are precisely manufactured nanoparticles, densely packed with a fluorescent dye surrounded by a protective capsule coated with 2500 streptavidin molecules. These PIDs can be used as a secondary detection system for routine immuohistochemistry allowing for extremely high sensitivity without the problems introduced by amplification. In addition to the high sensitivity obtained, the intensity of the fluorescent signal is directly related to the number of bound epitopes allowing for greater dynamic range and linearity making quantification possible. These PIDs can also be bound directly to antibodies against therapeutic antibodies and small molecules allowing for a more precise and localized determination of the pharmacokinetics and pharmacodistribution of these drugs. Combining Konica Minolta’s unique technologies with the core assets of Ambry Genetics and Invicro, gives us the ability to aid pharma and clinicians in identifying the key biomarkers that will enable precision medicine. We have a global footprint and key assets to aid in the evaluation of patients from whole organs to cells to proteins to genes as well as the infrastructure to organize that data and apply our proprietary image solutions and deep learning tools. I have been in academics and industry for over 30 years and have never seen an infrastructure as exciting as what we are creating at Konica Minolta.