SAN FRANCISCO, March 14, 2017 /PRNewswire/ -- Invitae Corporation (NYSE: NVTA), one of the fastest growing genetic information companies, today announced it will be presenting seventeen posters and presentations at the 2017 American College of Medical Genetics (ACMG) Annual Clinical Genetics Meeting in Phoenix.
"Scientific understanding of genetic medicine continues to expand rapidly, making sessions such as the ACMG meeting essential for the genetics community," said Robert Nussbaum, MD, chief medical officer of Invitae. "The research we will be presenting at ACMG this year has implications for how genetic variants are identified and classified, as well as for physicians' use of genetic information to treat patients with a wide variety of conditions. By continually advancing science, we at Invitae believe we can help more people benefit from the use of genetic information to make informed health decisions."
Invitae's presence at the meeting includes two platform presentations, one on the prevalence of copy number and structural variants in Mendelian disorders and the other on the spectrum of variants underlying multiple conditions based on a 30,000-patient dataset. The company also has four posters designated as "high-ranking," including research on the discordance between germline sequencing and somatic tumor profiling; the co-occurrence of pathogenic variants in Charcot-Marie-Tooth disease; innovative methods to accurately identify a clinically important variant associated with Lynch Syndrome; and an approach for incorporating gene-specific functional information to improve variant interpretation.
The full schedule of Invitae platform and poster presentations is as follows:
Thursday, March 23, 8:00 a.m. – 12:00 p.m. Mountain Standard Time
- Platform Presentation #23: Tracing the Dark Matter: Prevalence of Copy Number and Structural Variants Across Mendelian Disorders | Presented by Rebecca Truty, PhD, Invitae
- Poster #91: CNV Analysis of ACADM Enhances Yield in the Molecular Diagnosis of Medium-chain acyl-CoA Dehydrogenase Deficiency | Presented by Yuan-Yuan Ho, PhD, Invitae
- Poster #145: One of These Things is Not Like the Other: Clinically Actionable Discordance Between Germline Sequencing and Somatic Tumor Profiling | Presented by Edward Esplin, MD, PhD, Invitae
- Poster #337: Glycine Missense Variants in the Triple Helix Domain of Collagens: Assessing Functional Domain Data During Clinical Variant Interpretation | Presented by Daniel Beltran, PhD, Invitae
- Poster #575: Attitudes of Healthy Early Adopters Toward Personal Genome Sequencing: Observations from the PeopleSeq Consortium | Presented by Edward Esplin, MD, PhD, Invitae
- Poster #711: Contiguous 2p16.3p21 Gene Deletion Inclusive of EPCAM, MSH2, and MSH6 Identified with Next-Generation Sequencing | Presented by Daniela Iacoboni, MS, Invitae
- Poster #797: Potential of Predispositional Genetic Screening for Dominant Actionable Disorders: Prevalence of Genomic Variants in 16,000 Unaffected Individuals | Presented by Edward Esplin, MD, PhD, Invitae
Friday, March 24, 10:30–5:45 p.m. Mountain Standard Time
- Platform Presentation #40: The Spectrum of Pathogenic Variants Underlying Multiple Conditions in 30,000 Patients: Implications for Test Implementation, Utilization and Validation | Presented by Steve Lincoln, Invitae
- Poster #144: PMS2 Pseudogene and Disambiguation: Technically Challenging, Clinically Critical | Presented by Erin O'Leary, MS, Invitae
- Poster #224: Co-occurrence of Pathogenic Variants in MPZ and LRSAM1 in Charcot-Marie-Tooth Disease: Implications for Genetic Counseling for Multi-Gene Panel Testing | Presented by Christopher Tan, MS, Invitae
- Poster #358: Harmonizing Variant Interpretation for Sequence and Copy Number Changes Within Individual Genes in Clinical Diagnostic Testing | Presented by Ali Entezam, PhD, Invitae
- Poster #380: Molecular Diagnosis of Primary Ciliary Dyskinesia: Experience from a Clinical Laboratory | Presented by Michelle Zeman, PhD, Invitae
- Poster #430: Detection of a Novel Complex Rearrangement in KCNH2 with Next-Generation Sequencing in a Clinical Laboratory | Presented by John Garcia, PhD, Invitae
- Poster #592: Metabolic Pathognomonics: Incorporating Disease-Specific Biochemical Data Improves Variant Interpretation for Inherited Metabolic Disorders | Presented by Rachel Harte, PhD, Invitae
- Poster #676: Leveraging Phenotype Ontologies to Define the Specificity of Clinical Phenotypes to Inform Variant Interpretation | Presented by Britt Johnson, PhD, Invitae
- Poster #726: The Benefit of a Medically Actionable Genetic Screening Panel in Healthy Individuals: A Case Report | Presented by Eden Haverfield, PhD, Invitae
- Poster #734: Genetic Information for Healthy Individuals: Developing a Medically Actionable Genetic Screening Panel | Presented by Eden Haverfield, PhD, Invitae
For more detailed information, please visit http://www.acmgmeeting.net/acmg2017/Public/mainhall.aspx?ID=2374&sortMenu=101000.
Invitae Corporation's (NYSE: NVTA) mission is to bring comprehensive genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. Invitae's goal is to aggregate most of the world's genetic tests into a single service with higher quality, faster turnaround time, and lower price than many single-gene and panel tests today. The company currently provides a diagnostic service comprising hundreds of genes for a variety of genetic disorders associated with oncology, cardiology, neurology, pediatrics, and other rare disease areas. Additionally, the company has created a Genome Network to connect patients, clinicians, advocacy organizations, researchers, and drug developers to accelerate the understanding, diagnosis, and treatment of hereditary disease. For more information, visit our website at invitae.com.
Safe Harbor Statements
This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the Company's research and its implications for how genetic variants are identified and classified, as well as for physicians' use of genetic information to treat patients; and the Company's belief that by advancing science, it can help more people benefit from the use of genetic information to make informed health decisions. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: risks associated with the company's ability to use rapidly changing genetic data to interpret test results accurately and consistently; the company's ability to develop tests to keep pace with rapidly changing technology and new and increasing amounts of scientific data; laws and regulations applicable to the company's business; the company's ability to develop and commercialize new tests and expand into new markets; and the other risks set forth in the company's filings with the Securities and Exchange Commission, including the risks set forth in the company's Quarterly Report on Form 10-Q for the quarter ended September 30, 2016. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.
NOTE: Invitae and the Invitae logo are trademarks of Invitae Corporation. All other trademarks and service marks are the property of their respective owners.
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SOURCE Invitae Corporation