Research highlights frequency of medically actionable variants among secondary findings
Code Talker Award honors excellence in genetic counseling
Researchers from Invitae Corporation (NYSE: NVTA), one of the fastest growing genetics companies, are presenting research at the National Society of Genetic Counselors (NSGC) 37th Annual Conference in Atlanta that further underscores the frequency of medically actionable genetic variants and their utility in clinical care. In addition to its research presentations, the company is supporting the Code Talker award, which recognizes excellence in the field of genetic counseling.
Currently, the American College of Medical Genetics and Genomics (ACMG) recommends reporting clinically significant genetic variants in 59 genes as secondary findings for individuals who undergo whole exome or whole genome sequencing, regardless of the original indication for testing. These genes are known as the ACMG59 genes and are associated with increased risk of disease. A study presented at the meeting evaluated rates of secondary findings in the ACMG59 genes in 4,325 individuals who opted to receive an evaluation of secondary findings, either as the primary patient (proband) or as the parent of a patient.
Of all individuals evaluated, including both probands and healthy parents, 3.6 percent showed a medically significant finding in ACMG59 genes associated with personal disease risk. Importantly, one-third of positive findings were present only in a parent, highlighting the ability of secondary finding analysis to uncover actionable information for individuals who were not aware of their personal hereditary disease risk. These findings support expanding access to genetic screening for hereditary risk information in healthy individuals.
“Our study shows first that reporting on secondary findings for everyone who undergoes testing is important for patient health, regardless of the original reason for testing,” said Robert Nussbaum, M.D., chief medical officer of Invitae. “In addition, the frequency of actionable variants identified here in the ACMG59 complements other Invitae data showing that as many as 16 percent of healthy people who choose to have a genetic health screen with a larger panel of 147 genes have an actionable genetic variant that puts them at risk for disease. These data support the value of offering targeted gene panels that include the ACMG59 genes to the general population in order to identify and mitigate hereditary disease risks.”
Code Talker Award Honors Impact of Genetic Counselors
In addition to the research presentations at the meeting, Invitae will once again present the Code Talker award ceremony in conjunction with NSGC. Nominations for the award came from patients who shared stories of both the clinical and personal impact a genetic counselor had on their lives and the lives of their families. This year’s ceremony honors the following three finalists:
- Margaret Au, MBE, MS, CGC, from Cedars-Sinai Medical Center in Los Angeles, was nominated by the mother of a patient with a rare disorder that mystified doctors for more than 20 years. Au guided the patient and her family through genetic testing that finally yielded a diagnosis and helped them access clinical experts, research and other families with similar conditions.
- Lisa Johnson, MS, CGC from Miami Valley Hospital in Dayton, Ohio, was nominated by a patient who sought counseling during prenatal testing that showed the child would be born with a permanent, life-changing genetic condition. Johnson helped the family with research, information and connections to other families facing similar challenges.
- Hannah Scanga, MS, LCGC from the UPMC Children's Hospital of Pittsburgh, was nominated by the father of a young boy with a rare genetic disorder that severely limited his vision in both eyes. Scanga, a specialist in the field of ocular genetics, guided the family through genetic testing that provided a diagnosis and a gateway to follow-up care that restored the child’s vision and allowed him to resume the normal activities of childhood.
Full presentation schedule
The full schedule of the Invitae presentations at the meeting is as follows:
Thursday, November 15
- Poster #B-200: Comprehensive analysis of the ACMG59 genes in parental samples submitted for exome evaluation yields a high positive rate | Presented by Eden Haverfield, DPhil, FACMG, Invitae | 6:00 - 7:15 pm ET
Friday, November 16
- Lunch Seminar: The Goldilocks principle: Finding 'just right' in a world of expanding guidelines and growing access to genetic testing | 12:15 - 1:30 pm ET
- Poster #C-210: Removing the barrier of cost for family variant testing in cancer predisposition genes significantly increases uptake among relatives | Presented by Rachel F. Miller, MS, CGC, Invitae | 1:30 - 2:30 pm ET
- Educational Breakout Session C14: Immunodeficiencies and Bone Marrow Failure: What Every Genetic Counselor Should Know | Presented by Britt Johnson, PhD, FACMG, Invitae | 3:10pm - 4:40 pm ET
- Educational Breakout Session C16: New Developments in Testing Methods and Bioinformatics | Presented by Stephen Lincoln, Invitae | 3:10 - 4:40 pm ET
- Third Annual Code Talker Award Ceremony and Reception, presented by Invitae in conjunction with NSGC | 6:30 - 8:30 pm ET
Saturday, November 17
- Educational Breakout Session D06: Conflict of interest: We are stuck with it, so how should we address it? | Presented by Kate Lynch, MS, LCGC, Invitae | 10:10 - 11:40 am ET
Join us at booth 703 for refreshments and to learn about the resources and support Invitae is developing for the GC community. For more information on Invitae’s presence at NSGC, please visit www.invitae.com/nsgc2018. Additional information on the NSGC Annual Conference is also available at www.nsgc.org/conference.
Invitae Corporation (NYSE: NVTA) is one of the fastest growing genetics companies in the United States. Invitae’s 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 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 frequency of medically actionable genetic variants and their utility in clinical care; the value of expanding access to genetic screening for hereditary risk information in healthy individuals; that reporting on secondary findings for everyone who undergoes genetic testing is important to patient health; and the value of offering targeted gene panels that include the ACMG59 genes to the general population in order to identify and mitigate hereditary disease risks. 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 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 September 30, 2018. 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