14 posters and presentations to focus on advances in genetic testing technology and medical interpretation tools as well as new applications of genetics in health and wellness
This week Invitae Corporation (NYSE: NVTA), a genetic information company, is presenting multiple abstracts at the American Society of Human Genetics (ASHG) 2016 Annual Meeting in Vancouver, covering an array of topics in genetics, including advances in complex variant detection and medical interpretation, as well as survey data exploring the attitudes of healthy adults seeking genetic testing through their physicians and the frequency with which medical guidance accompanies the results.
“The use of genetic information to better understand and diagnose disease and to guide treatment choices expands significantly each year,” said Robert Nussbaum, MD, chief medical officer of Invitae. “The research presented at this year’s ASHG meeting moves us another step forward in our scientific knowledge and understanding of how individuals and their physicians think about genetic testing and its utility. Invitae is steadfast in our commitment to provide high quality genetic information to our physicians and patients, and by leading with science, we believe we can help individuals and their physicians make informed health decisions based on their genetic information.”
Among Invitae’s ASHG presentations:
- Invitae is describing data on over 30,000 clinical cases across a range of indications, showing that the genetic variants most challenging to detect technically are prevalent among patients receiving clinical genetic testing. It is important for sequencing labs to resolve the issue of “hard-to-do” variants – and to publish validation studies on these variants – because tests which do not adequately address these types of variants will have a significant false negative rate. In collaboration with Harvard Medical School, the National Institute of Standards and Technology, and others, Invitae has worked to develop improved reference standards that can allow genetic tests to be properly benchmarked in terms of their ability to accurately detect these challenging but important types of genetic variants (Poster #936F).
- For well-understood hereditary diseases featuring a specific phenotype (presentation), there is a relatively high prior probability that a known pathogenic variant(s) will be detected if the appropriate genes have been sequenced. Furthermore, including the presence of a unique phenotype can provide a powerful line of evidence for variant classification when multiple variants are identified, and can help reduce the number of variant of unknown significance results. Invitae has established a systematic approach for integrating unique phenotypic data into variant interpretation that is based on the ACMG guidelines (Poster #1032F).
- Among the most important aspects of genetic testing is ensuring that information provided to patients and clinicians is relevant and useful for guiding decision-making. Invitae has created a framework for categorizing gene/condition relationships, thereby establishing a method to distinguish between genes proven to cause a condition and genes for which only preliminary evidence suggests an association. Understanding the rationale for a gene’s inclusion on a testing panel is critical for clinicians, and the clinical utility of the findings in any gene ultimately depends on the strength of the evidence linking that gene to disease (Poster #834F).
- With growing opportunities for healthy adults to access genetic testing directly, the PeopleSeq Consortium (a collaboration with multiple academic centers to track outcomes associated with the sequencing of ostensibly healthy individuals) surveyed individuals who have undergone personal genome sequencing (PGS) to understand what prompted these early adopters to pursue genetic screening. The data show healthy adults may be quick to make decisions to pursue PGS and may do so with limited medical consultation. The survey found that most people made the decision to pursue PGS quickly (one day or less). Although the most-reported reason for testing was determining personal risk of disease and a physician order was required for PGS, only a fraction of respondents reported talking with their primary care provider about whether or not to pursue PGS, which may have important implications for providing education on genetic information as more and more healthy adults seek PGS to understand personal disease risk (Poster #3108F).
The full schedule of Invitae posters and presentations is as follows:
Wednesday, October 19, 2:00-4:00 pm
- Accurate detection of copy-number changes in the highly conserved regions of PMS2 using NGS | Poster #775W | Presented by Vince Ramey, Invitae
- Variant classifications are highly concordant in ClinVar, but with variability in genes from different disease areas | Poster #976W | Presented by Shan Yang, Invitae
- PseudoSlayer: Clinical-grade variant identification within segmental duplications using NGS data | Poster #1006W | Presented by Dan Kvitek, Invitae
- Creating a medically actionable genetic screening panel for healthy individuals | Poster #3031W | Presented by Ed Esplin, Invitae
Thursday, October 20, 2:00-4:00 pm
- What do public databases really tell us about classification of variants in BRCA1 and BRCA2? | Poster #773T | Presented by Robert Nussbaum, Invitae
- Glycine missense variants in the COL3A1 triple helix domain: How to assess functional domain data during clinical variant interpretation | Poster #791T | Presented by Daniel Beltran, Invitae
- Mammalian species conservation data and the implication for clinical variant classification | Poster #2858T | Presented by Paige Taylor, Invitae
- Germline hemizygous deletion of CDKN2A-CDKN2B locus in a patient presenting with Li-Fraumeni syndrome | Poster #2681T | Presented by Sock Hoai Chan, National Cancer Center Singapore
Friday, October 21, 2:00-4:00 pm
- Evaluating the strength of evidence for gene/condition relationships: Impact on multi-gene panel testing design | Poster #834F | Presented by Chris Tan, Invitae
- Lions and tigers and bears, oh my! Technically challenging variants are prevalent and require new approaches to NGS test development and validation | Poster #936F | Presented by Steve Lincoln, Invitae
- “SMRTer Confirmation”: Scalable clinical read-through variant confirmation using the Pacific Biosciences SMRT® Sequencing Platform | Poster #996F | Presented by Sarah McCalmon, Invitae
- “Phenotypes of Distinction”: When and how to integrate unique phenotypic information into variant interpretation | Poster #1032F | Presented by Britt Johnson, Invitae
- Molecular follow-up of a newborn screening (NBS)-positive case of medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) identified two ACADM variants: Are they clinically pathogenic? | Poster #2286F | Presented by Yuan-Yuan Ho, Invitae
- Attitudes regarding personal genome sequencing among healthy early adopters: Findings from the PeopleSeq Consortium | Poster #3108F | Presented by Ed Esplin, Invitae
For additional information on Invitae’s presence at ASHG, please visit https://www.invitae.com/ashg2016/.
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. 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 use of research and the company’s ability to help individuals and their physicians make informed health decisions based on their genetic information, the company’s belief that the use of genetic information to guide treatment expands significantly each year, the utility of genetic testing and its impact on diagnoses and patient outcomes, and the applicability and utility of the research studies to diagnoses and patient outcomes. 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, including potential regulation by the Food and Drug Administration; 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 June 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.
Source: Invitae Corporation