HOUSTON, Oct. 17, 2019 /PRNewswire/ -- Researchers from Invitae Corporation (NYSE: NVTA), a leading medical genetics company, are presenting data showing the increasing utility of genetic information at the American Society of Human Genetics (ASHG) annual meeting this week, ranging from comprehensive screening for cancer patients, to appropriate clinical follow up for women using non-invasive prenatal screening, to the limitations of direct to consumer genetic screening health reports.
The company's research includes three platform presentations and multiple poster sessions, many performed in collaboration with leading academic researchers. Among the data presented is a study evaluating the utility of combined germline testing and tumor profiling (somatic testing) in cancer patients. Germline and somatic testing are increasingly used in precision treatment of people with cancer, although frequently are ordered separately in clinical practice. Data presented at the meeting shows a substantial number of patients with medically significant variants in hereditary cancer syndrome genes in their tumor profile carry the same variant in their germline, thereby establishing a previously unknown risk of hereditary cancer and suggesting the value of combined or concurrent testing to inform precision medicine approaches.
"The research we are presenting at this year's ASHG meeting provides meaningful insight into both the science and practice of genetics, helping identify how we as clinicians can better use deep genetic insights to help a wide array of patients, whether they are cancer patients, women having a child or healthy adults seeking to better understand their risk of disease," said Robert Nussbaum, M.D., chief medical officer of Invitae. "We are proud and grateful to be able to join our colleagues from across genetic medicine in meaningful conversations that push genetic medicine forward."
Following are research from the company and collaborators to be presented at the meeting:
Wednesday, October 16:
Poster presentation #819W | 2:00 – 3:00 pm Germline testing in colorectal cancer: Increased yield and precision therapy implications of comprehensive multigene panels. Presented by Shan Yang, PhD. Invitae.
Poster presentation #2427W | 2:00 – 3:00 pm Harmonizing tumor sequencing with germline genetic testing: identification of at-risk individuals for hereditary cancer disorders. Presented by Daniel Pineda-Alvarez, MD, FACMG, Invitae.
Poster presentation #606W | 3:00 – 4:00 pm A comprehensive evaluation of the importance of prenatal diagnostic testing in the era of increased utilization of non-invasive prenatal screening. Presented by Jenna Guiltinan, MS, LCGC, Invitae.
Thursday, October 17:
Platform presentation #235 | 5:00 pm, Room 370A, Level 3 Limitations of direct-to-consumer genetic screening for hereditary breast, ovarian and colorectal cancer risk. Presented by: Edward Esplin, MD, PhD, FACMG, FACP, Invitae.
Poster presentation #763T | 2:00 – 3:00 pm In-depth dissection of APC pathogenic variants: Spectrum of more than 400 pathogenic variants, challenges of variant interpretation, and new observations in a large clinical laboratory testing cohort. Presented by: Hio Chung Kang, PhD, Invitae.
Poster presentation #1399T | 2:00 – 3:00 pm Prediction of lethality and severity of osteogenesis imperfecta variants in the triple-helix regions of COL1A1 and COL1A2. Presented by: Vikas Pejaver, PhD, University of Washington.
Friday, October 18:
Platform presentation #264 | 9:00 am, Room 361D, Level 3 Million Veteran Program Return Of Actionable Results - Familial Hypercholesterolemia (MVP-ROAR-FH) Study: Considerations for variant return to mega-biobank participants. Presented by Jason Vassy, MD, MPH, VA, Boston Healthcare System.
Platform presentation #265 | 9:15 am, Room 361D, Level 3 Comprehensive secondary findings analysis of parental samples submitted for exome evaluation yields a high positive rate. Presented by Eden Haverfield, DPhil, FACMG, Invitae.
Poster presentation #698F | 2:00 – 3:00 pm Reporting of variants in genes with limited, disputed, or no evidence for a Mendelian condition among GenomeConnect participants. Presented by: Juliann Savatt, MS, LGC, Geisinger.
About Invitae Invitae Corporation (NYSE: NVTA) is a leading medical genetics company, whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's 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 increasing utility of genetic information; the utility of combined germline and somatic testing; and the benefits of the company's research. 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: the applicability of clinical results to actual outcomes; the company's history of losses; the company's ability to compete; the company's failure to manage growth effectively; the company's need to scale its infrastructure in advance of demand for its tests and to increase demand for its tests; the company's ability to use rapidly changing genetic data to interpret test results accurately and consistently; security breaches, loss of data and other disruptions; laws and regulations applicable to the company's business; 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 June 30, 2019. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.