Research highlights utility of proactive genetic screening in healthy adults
Award-winning genetic information tool added to support use of genetic information as part of mainstream medical care throughout life
Researchers from Invitae Corporation (NYSE: NVTA), one of the fastest growing genetic information companies, will present initial findings showing proactive genetic health screening revealed medically significant findings for nearly one in five patients in a study presented at the National Society of Genetic Counselors (NSGC) 36th Annual Conference. The company will also unveil a new software platform to help genetic counselors gather and manage family history and patient information essential for clinical decision making. The information is among the wide-ranging research and expanded services being featured at the meeting.
Increasingly, healthy individuals are seeking genetic testing to identify their personal risks for inherited conditions such as cancer. Data presented at NSGC highlights the potential importance of these tests for planning health screenings. A retrospective analysis of 120 patients tested with a genetic screening panel for healthy adults found pathogenic or likely pathogenic results in 18 percent of patients, predominantly in genes associated with an elevated risk for cancer or cardiovascular disease. Invitae currently has a number of proactive genetic testing programs underway using this type of proactive genetic screening in primary care settings.
“Interest among otherwise healthy adults in using genetic information to understand their risk of disease continues to grow each year. These and other data show that interest is well-placed, with a substantial group of patients showing genetic variants associated with elevated risk of diseases like cancer where monitoring and early intervention can be helpful,” said Robert Nussbaum, M.D., chief medical officer of Invitae. “Use of genetic screening in the primary care setting can assess risk to help shape individual screening plans. We are continually adding tools and resources that help reduce barriers to the widespread use of genetic information in mainstream medical practice.”
Expanded support for understanding families’ genetic information
Making health decisions based on genetic test results, family history and clinical information requires genetic counselors to assemble and analyze a significant amount of information. A new version of CancerGene Connect, the award-winning risk assessment and family history tool, is being made available at no charge to provide a software solution that simplifies data gathering, tracking and analysis for all genetic counselors and their patients, regardless of whether they order testing from Invitae or not. Designed by clinicians, the new tool automates family history information gathering and provides genetic counselors and other clinicians with a suite of analysis tools to improve their ability to care for patients. CancerGene Connect became part of Invitae in June 2017.
“The combination of genetic information and family health history is important for understanding health risks within cancer and a growing list of cardiovascular, metabolic, neurological and other conditions. Gathering, organizing and analyzing the spectrum of relevant clinical information patient-by-patient can be extremely time consuming for genetic counselors,” said Dr. Nussbaum. “CancerGene Connect cuts down on the time needed for data gathering and analysis so genetic counselors can spend their time working directly with patients and clinicians to understand the results.”
Full research presentation schedule
The full schedule of the Invitae researchers’ presentations at the meeting is as follows:
Wednesday, September 13:
- Poster #A-1: Using characteristics of industry genetic counselors to inform ongoing workforce discussions | Presented by Chris Tan, MS, LCGC, Invitae | 5:15 pm ET.
- Poster #A-25: Utilization and findings of a rapid turnaround lab process for hereditary breast cancer | Presented by Kimberly King-Spohn, MS, CGC, WellStar Center for Genetics and Cancer Screening Services | 5:15 pm ET.
- Poster #A-82: The paperwork matters! The importance of clinical phenotype information in variant interpretation | Presented by Michael J. Anderson, PhD, Invitae | 5:15 pm ET.
- Poster #A-115: Developing genetic education to improve postmortem genetics - the NSGC Postmortem Working Group (PMWG) Collaborative Experience | Presented by Heather McLeod, MS, CGC, Sudden Death in the Young (SDY) Registry | 5:15 pm ET.
- Poster #A-136: The impact of preconception AGG interruption testing on fragile X syndrome carriers in the fertility setting | Presented by Julia Wilkinson, MS, LCGC, Good Start Genetics | 5:15 pm ET.
Thursday, September 14:
- Poster #B-53: A retrospective analysis of preliminary results from a medically actionable genetic screening panel for healthy individuals | Presented by Eden Haverfield, PhD, FACMG, Invitae | 5:45 pm ET.
- Poster #B-104: Agreement and disagreement among variant classification in ClinVar: Critical factors clinicians should know | Presented by Stephen E. Lincoln, Invitae | 5:45 pm ET.
Friday, September 15:
- Presentation #1030: High-depth multi-gene panel analysis with integrated sequence and copy number detection is a useful first-tier test with a high diagnostic yield and broad mutation spectrum detection in childhood epilepsy | Presented by Darlene Riethmaier, MS, CGC, Invitae | 12:15 pm ET.
- Presentation #1232: Addition of a remote genetic counselor to the breast specialist’s team improves clinical decision-making | Presented by Erin O’Leary, MS, CGC, Invitae | 3:45 pm ET.
- Poster #C-114: Next-generation sequencing and a novel bioinformatic approach identifies copy number variation in ion channel genes in a clinical laboratory | Presented by Emily James, MS, LCGC, Invitae | 1:15 pm ET.
- Poster #C-129: Counseling healthy individuals for preventive genetic screening: A case report | Presented by Sienna Aguilar, MS, CGC, Invitae | 1:15 pm ET.
- Poster #C-204: Identification of balanced translocation carriers through routine preimplantation genetic screening | Presented by Dana K. Neitzel, MS, CGC, Good Start Genetics | 1:15 pm ET.
- Poster #C-288: Diagnostic yield for neurological and neuromuscular disorders testing with high-depth multi-gene panel analysis with integrated sequence and copy number detection | Presented by Darlene Riethmaier, MS, CGC, Invitae | 1:15 pm ET.
Saturday, September 16:
- Presentation #1216: Targeted cascade testing: Are we missing the forest for the trees? | Presented by Scott Michalski, MS, LCGC, Invitae | 12:00 pm ET.
- Presentation #1275: Beyond BRCA: Germline genetic testing in prostate cancer, do we need disease-specific guidelines | Presented by Ian Wilson, PhD, FACMG, Invitae | 12:30 pm ET.
Invitae Corporation (NYSE: NVTA is one of the fastest growing genetic information companies in the United States. Invitae Corporation'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 the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit our website at invitae.com.
Source: Invitae Corporation
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 research that highlights the utility of proactive genetic screening in healthy adults; that the company is continually adding tools and resources that help reduce barriers to the widespread use of genetic information in mainstream medical practice; and the benefits of CancerGene Connect. 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; laws and regulations applicable to the company’s business; the company’s limited experience with respect to acquisitions and its ability to integrate newly acquired companies successfully into its existing business; security breaches, loss of data and other disruptions; the company’s history of losses; the company’s ability to compete; 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, 2017. 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