Updates to more than 20 cardiology, pediatric, neurology & metabolic panels

Invitae is pleased to announce that we’ve updated 23 neurology, pediatric genetics, metabolic, and cardiology panels based on client feedback and recently published studies. View the updated panels here (changes marked in red) or in the Invitae test catalog: Neurology Invitae Amyotrophic Lateral Sclerosis Panel Invitae Cardiomyopathy and Skeletal Muscle Disease Panel Invitae Charcot-Marie-Tooth Disease…

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New consensus guidelines: Genetic testing for prostate cancer patients

New consensus guidelines on genetic testing for prostate cancer (PCa) patients are now available—published in JCO by more than 70 experts from the fields of urology, genetics, and medical oncology. The guidelines, which provide a framework for genetic evaluation, prostate cancer screening, and management, advise that: hereditary PCa testing should include BRCA1, BRCA2, HOXB13, and…

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Rigorous, reproducible variant classification

Sequencing DNA isn’t enough. Genetic sequence must also be translated into medically actionable information. Invitae has invested heavily in developing Sherloc, an advanced variant classification system that enables objective and reproducible results, a cornerstone of clinically valid and scientifically accurate genetic testing. We recently published our approach in Genetics in Medicine, the official journal of…

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Three highlights from “The future of genetic testing,” a webinar with Randy Scott, chairman at Invitae

Randy Scott, PhD, recently presented a webinar The future of genetic testing: Making genetic information more affordable and accessible for all. In case you missed it, we’ve compiled the top three highlights from the webinar. Read on for the highlights or watch the entire recording. 1. Our vision: Affordable genetic testing for all Genomic technology…

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Family Health History Month: Know your genes

  This Family Health History Month, Invitae encourages all families to discuss their history of disease. Your family medical history provides powerful insights into your risk of developing certain medical conditions, which can help you create a plan for prevention or early disease detection. Talking with your relatives about the diseases that are present in…

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Invitae Chief Medical Officer Dr. Robert Nussbaum recognized for innovation in epilepsy diagnosis

Joseph Sullivan, MD, Epilepsy Foundation of Northern California Board Chair

Each year, the Epilepsy Foundation of Northern California’s Innovation Award honors an outstanding individual who has made exceptional contributions and conducted innovative work in epilepsy research, diagnosis, and treatment. We are pleased to announce that this year’s recipient is Invitae Chief Medical Officer Dr. Robert Nussbaum. Dr. Nussbaum’s work and success in the development of…

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What is a genetic counselor?

Kate Lynch and Sienna Aguilar, Genetic counselors at Invitae

November 9th will mark the first annual Genetic Counselor Awareness Day. Generally, when we tell someone that we are genetic counselors, they immediately ask: “What is a genetic counselor?” We’re often so limited by time that the answer barely scratches the surface. But if given the time, there is so much we would tell them…

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