Invitae Showcases Advances in Medical Genomics at NSGC Conference

– Heart of Genetic Counseling Award recognizing excellence in patient care will be presented by Invitae and NSGC –

Researchers from Invitae (NYSE: NVTA), a leading medical genetics company, are presenting research next week at the National Society of Genetic Counselors (NSGC) 41st Annual Conference in Nashville enabling the progress of the science and practice of genetics in patient care. In addition to its research presentations, the company will present the Heart of Genetic Counseling Award, which recognizes excellence in the field of genetic counseling.

The company’s research presentations, which include a pre-conference symposium, opening plenary, sponsored session and poster presentations, add to both the science and practice of the fast-growing field of medical genetics. Among the company’s poster presentations is a retrospective case-control study aimed to assess the cancer risk for individuals who have a monoallelic MUTYH pathogenic/likely pathogenic variant. In addition, Invitae will present a study highlighting how RNA sequencing can help classify variants predicted to alter RNA splicing, as well as uncovering splice-altering variants in regions outside of the standard reportable range of targeted DNA panels.

“The NSGC annual meeting is a great opportunity for Invitae to show our continued commitment to genetic counselors and their patients as well as furthering the science behind genetic testing,” said Robert Nussbaum, M.D., chief medical officer at Invitae. “Working with genetic counselors, we continue to champion affordability, accessibility and innovation – so that we can find answers for more patients, together.”

Heart of Genetic Counseling Award

In addition to the research presentations at the meeting, Invitae and NSGC will present the 2022 Heart of Genetic Counseling Award in a ceremony at the NSGC Annual Conference. The Heart of Genetic Counseling Award was established to honor excellence in genetic counseling patient care as recognized by patients themselves. Nominations include stories from patients that highlight both the clinical and personal impact a genetic counselor had on their lives and the lives of their families. The finalists include:

  • Monisha Sebastin, MS, CGC, Children’s Hospital at Montefiore Medical Center, The Bronx, New York, was nominated by a parent whose daughter has fanconi anemia (FA), a rare genetic disease that affects the bone marrow. When the daughter was diagnosed with COVID, Sebastin went above and beyond to get her treatment by arranging for her infusions within a few hours which was critical given the daughter’s pulmonary issues and compromised immune system.
  • Victoria Vincent, MS, CGC, University of South Carolina, Columbia, South Carolina, showed true compassion for a patient who lost several children due to surfactant protein-B (SP-B) deficiency, a rare lung disorder that causes most babies to die within the first few weeks of life. Vincent provided the patient with emotional support during her losses and, after many years, celebrated with the patient when they discovered that her son and his fiancée did not carry the SP-B mutation.
  • Julianne Wojciak, MS, LGC, University of California, San Francisco, California, counseled a patient during her testing for the LMNA genetic mutation, which can cause cardiac arrest or heart failure. Due to the diagnosis, the patient received an internal cardiac monitor, which detected pauses in her heart activity that saved her life. Wojciak also supported the patient through the process of testing her children for the LMNA mutation.

The Heart of Genetic Counseling Award will be presented on Thursday, November 17.

Full presentation schedule

The full schedule of the Invitae presentations at the conference is as follows:

Wednesday, November 16

  • Pre-conference symposium. REAssessing the Use of Race, Ethnicity, Ancestry (REA) Information in Genomic Medicine. | Presented by: Robert Nussbaum, M.D., Invitae. | 12 – 5:30 p.m. CST

Thursday, November 17

  • Opening Plenary. We’re not in Kansas anymore, Toto! International Genetic Counselors’ Experiences in the U.S. | Presented by: Rachel Mador, MS, CGC, Invitae. | 9:15 – 10 a.m. CST
  • Heart of Genetic Counseling Award Presentation | Presented by: Invitae and NSGC. | 7:30 – 9:30 p.m. CST

Friday, November 18

  • Industry sponsored session. How clinical experts and artificial intelligence work together in an effort to improve genetic testing results. | Presented by: Molly Stetler, MS, CGC, and Sarah Klemm, MS, CGC, Invitae. | 12:30 – 1:45 p.m. CST

Virtual, on demand for registered attendees

  • Poster. Increased colorectal cancer risk among monoallelic MUTYH founder variant carriers tested at a commercial laboratory | Presented by: Brandie Heald Leach, MS, CGC, Invitae
  • Poster. Combined DNA and RNA analysis of hereditary cancer associated genes: More answers for more patients | Presented by: Daniel Pineda, M.D., Invitae

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