Invitae research highlights utility of proactive genetic screening, importance of assessing secondary findings in genetic testing
Published: Apr 10, 2018
CHARLOTTE, N.C., April 10, 2018 /PRNewswire/ -- Researchers from Invitae Corporation (NYSE: NVTA), one of the fastest growing genetic information companies, will present findings showing proactive genetic health screening reveals medically significant findings for a substantial portion of patients, and looking for secondary findings during genetic testing provides a substantial yield of actionable risk factors for disease. The studies are among the company's data being presented this week at the American College of Medical Genetics (ACMG) annual meeting in Charlotte, NC.
Healthy individuals are increasingly seeking genetic testing to identify their personal risks for inherited conditions such as cancer and cardiovascular disease. An analysis of 1,300 patients tested with a diagnostic-grade genetic screening panel designed for healthy adults found clinically actionable results in 16 percent of patients, predominantly in genes associated with an elevated risk for cancer or cardiovascular disease.
"Healthy adults are increasingly interested in using genetic information to understand their risk of disease and these data show that interest is warranted. But it is essential that consumers receive medically sound testing to assess their risk of diseases like cancer where monitoring and early intervention can be helpful," said Robert Nussbaum, M.D., chief medical officer of Invitae. "Talking about genetic screening with a physician or genetic counselor and then using the highest quality testing can help ensure people receive accurate results and, just as importantly, sound medical advice on how to respond to those findings."
Invitae's proactive genetic tests are currently being provided at a number of institutions enabling clinicians to use this type of genetic screening with patients in a variety of clinical settings, including primary care.
In another platform presentation at the meeting, researchers from the company are reporting on an analysis of the frequency of actionable variants in hereditary cancer syndrome genes found in more than 3,000 patients referred for testing for hereditary cardiovascular disorders. Under an IRB-approved protocol that allowed review of de-identified test data, the researchers analyzed genetic testing results for a number of well-known genes associated with increased cancer risk in patients with no known indication for hereditary cancer gene testing. The researchers found that six percent of patients had pathogenic variants in clinically actionable hereditary cancer genes.
"Current ACMG guidelines on secondary findings support providing such information regardless of the original indication for testing," said Dr. Nussbaum, one of the authors of the study. "Our study indicates that one in 16 individuals could receive actionable information from hereditary cancer gene testing even in the absence of personal or family history that would suggest the need for a diagnostic evaluation of cancer risk. The results suggest the importance of screening for medically actionable gene mutations regardless of original indication."
The company's research presentations includes one platform presentation, one plenary presentation, and participation in fourteen posters at the meeting:
Wednesday, April 11
Platform presentation, 5:15 p.m. Eastern:
Secondary Findings in Hereditary Cancer Genes from Multigene Panel Data: A New Frontier Unanticipated by the ACMG
Presenter: Ed Esplin, MD, PhD, FACMG, FACP
Thursday, April 12
Plenary presentation, 9:30 a.m. Eastern:
An Interlaboratory Study of Complex Variant Detection in Clinical Testing
Presenter: Stephen Lincoln
Poster presentations, 10:00 a.m. - 11:30 a.m. Eastern:
Poster #81: Diagnostic yield analysis of Invitae's metabolic analyte panels
Presenter: Michelle Fox, MS, LCGC
Poster #333: The Paperwork Matters! Phenotypic Information Significantly Impacts Variant Interpretation in Hereditary Cancer Testing
Presenter: Carolina Pardo, PhD
Poster #355: Detection of NF1 variants by NGS Panels with SNV and CNV Identification Exceeds Published Estimates and Improves Clinical Utility
Presenter: Karen Ouyang, PhD, FACMG
Poster #379: Behind the Seizure™: A No-Cost, 125-Gene Epilepsy Panel for Pediatric Seizure Onset Between 2-4 Years
Presenter: Nicole Miller, PhD
Poster #723: Current challenges in the classification of large genetic events affecting TTN
Presenter: Matteo Vatta, PhD, FACMG
Friday, April 13
Poster presentations, 10:30 a.m. - Noon Eastern:
Poster #142: The Clinical Impact of Mutations beyond BRCA1/BRCA2 in Breast Cancer Patients
Presenter: Judith Westman, MD
Poster #166 - Blue Ribbon: Down Syndrome Resources from the National Institutes of Health: Research Projects Supported by the DS-Connect® Registry
Presenter: Melissa Parisi, MD, PhD
Poster #218: ClinGen's GenomeConnect Registry Enables Patient-Centric Data Sharing
Presenter: Juliann Savatt, MS, LGC
Poster #326: Reducing VUS Rates Among Ethnic Groups: Sequencing Smarter, Not Harder
Presenter: Shan Yang, PhD
Poster #458: Quantitative Determination of SMN2 Copy Number using Next Generation Sequencing and Correlation to Disease Severity
Presenter: Sarah Klemm, MS
Poster #572: Are we ready for Telegenetics? Surveying the current landscape among ACMG members
Presenter: Shweta Dhar, MD, MS
Poster #622: Misattributed Paternity as an Unanticipated Finding During Exome/Genome Sequencing: Current Clinical Laboratory Practices and an Opportunity for Professional Recommendation Development
Presenter: Celeste Eno, PhD
Poster #628: Improved Diagnostic Confirmation of Newborn Screening Conditions by Next-Generation Sequencing: A Collaboration Between Laboratory and Clinician
Presenter: Michelle Fox, MS, LCGC
Poster #666: Multigene Panel Screening for Hereditary Disease Risk in Healthy Individuals
Presenter: Eden Haverfield, PhD, FACMG
About Invitae Corporation
Invitae Corporation (NYSE: NVTA) is a genetic information company. Invitae's 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 prices.
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 utility of proactive genetic screening; the increase in healthy individuals seeking genetic testing to identify personal risks for inherited conditions; and the importance of assessing secondary findings in genetic testing. 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 company's ability to continue to generate substantial demand for its tests: the company's ability to compete; the company's history of losses; the company's ability to use rapidly changing genetic data to interpret test results accurately and consistently; 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 Annual Report on Form 10-K for the year ended December 31, 2017. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.
Source: Invitae Corporation
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SOURCE Invitae Corporation