Cardiology, hematology, immunology, neurology and pediatric panel updates

Invitae is pleased to announce ten new and over 40 updated panels. View the complete list of all new and updated cardiology, hematology, immunology, neurology, and pediatric panels, or place an order in the Invitae test catalog. All order forms have been updated at This update is part of Invitae’s ongoing dedication to make…

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Artificial intelligence enhances precision medicine and delivery of clinical information

Articles from Invitae and colleagues, recently published in the American Journal of Medical Genetics and Journal of Genetic Counseling, describe how chatbots have the potential to positively impact care. Technology based on artificial intelligence should be recognized not as a threat but as an innovation to empower patients to digest genetic information at their own pace. Chatbots…

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Never miss a change to your patient’s exome again

Invitae is now offering expert, case-level exome reanalysis every 6 months included in the cost of the initial test. Most labs provide an exome interpretation when an order is placed, but over time new information may lead to re-interpretation. When this happens, clinicians are burdened by the task of keeping up on reanalysis requests. At…

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Germline genetic testing and tumor sequencing in patients with cancer

According to a study in JAMA Network Open, germline genetic testing can benefit patients with cancer even if they have had tumor DNA sequencing. In the study, researchers from Invitae, Stanford University Medical Center, and the Helen Diller Family Comprehensive Cancer Center (University of California, San Francisco) retrospectively reviewed germline testing results from 2,023 patients who…

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JAMA Oncology study supports germline genetic testing for all cancer patients

A new study published in JAMA Oncology found that more than 1 in 8 cancer patients has an inherited genetic mutation associated with hereditary cancer. One-third of the patients with the highest risk cancer genes had a change in their medical management, including the type of surgery or chemotherapy they received. The largest known study…

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The art (and science) of variant interpretation

By Jill Polk, Clinical Science Liaison, Invitae When it comes to genetic testing in healthcare, it’s important that a laboratory excels not only at identifying genetic variants, but also at evaluating and clinically classifying the variants that it finds. In other words, genetic testing is not only about finding the differences in a person’s DNA—it’s…

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Genetics Insider: September 2020

Literature review Did you catch what our colleagues are doing?  Increasing uptake of BRCA testing for women with high-grade serous ovarian cancer BRCA genetic variants are present in up to 15% of patients with high-grade serous carcinoma of the ovaries, fallopian tubes, or peritoneum. A new study from McGill University in Montreal, published in the International Journal…

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Many UnitedHealthcare members receive Invitae testing with zero copay or coinsurance

Thanks to Invitae’s status as a Preferred Lab Network provider, all Invitae tests that meet UnitedHealthcare’s clinical guidelines have zero copay or coinsurance for patients with tiered benefit plans, including: UnitedHealthcare Choice and UnitedHealthcare Choice Plus UnitedHealthcare Charter, UnitedHealthcare Charter Plus and UnitedHealthcare Charter Balanced UnitedHealthcare Core and UnitedHealthcare Core Essential UnitedHealthcare EDGE® UnitedHealthcare Navigate®,…

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Genetics Insider: July 2020

Literature reviewDid you catch what our colleagues are doing? National Lipid Association statement on genetic testing in lipid disorders  In the Journal of Clinical Lipidology, an expert panel from the National Lipid Association reviews the evidence and clinical considerations for genetic testing of dyslipidemias and makes several recommendations: For familial hypercholesterolemia (FH), the most common…

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How Invitae detects challenging genotypes

Dianalee McKnight, PhD, FACMG

Modern genetic sequencing is driven by a fast and cost-effective DNA technology called next-generation sequencing (NGS). This powerful tool is used by many clinical labs to give timely answers to patients with medical genetic concerns. But there are some facets of our genome—like pseudogenes, repetitive sequences, and copy number variants—that trip up standard NGS. We…

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Genetics Insider: May 2020

Literature reviewDid you catch what our colleagues are doing? The genetics of arrhythmogenic cardiomyopathy: clinical implications for probands and family members Arrhythmogenic cardiomyopathy (ACM), characterized by frequent ventricular arrhythmias and progressive ventricular dysfunction, is associated with a high risk of sudden cardiac death. In a recent review, authors discuss the clinical implications of genetic findings…

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New functional modeling platform reduces uncertainty in genetic testing

Genetic testing through DNA sequencing can detect millions of places where one person’s genome differs from another’s. Most of the time, these differences are harmless and deemed benign. Occasionally, they are the cause of disease or a marker of increased risk for a disease and deemed pathogenic. Differentiating between the benign and the pathogenic is…

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Seeing patients from home (and staying HIPAA-compliant): A guide for GCs

By: Kate Lynch MS, CGC, Rachel Riesgraf MS, CGC, and RJ Okamura MS, CGC

If you’re reading this, you may have found yourself at home in your PJs, surrounded by dirty dishes, and utterly confused as to how you’re supposed to juggle home demands with work demands—and stay HIPAA-compliant in the process.  Believe it or not, it is possible to have a productive—and compliant—day at home, even if you’re…

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Genetics Insider: March 2020

We are working to provide continuity of care during the developing COVID-19 situation. Please click here to learn how we are supporting you and your patients. Literature reviewDid you catch what our colleagues are doing? Update on genetic causes of long QT syndrome In response to recent changes in our understanding of genetic variation, an…

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Looking back and moving forward: What’s next for lysosomal storage disorders

Britt Johnson Ph.D., FACMG, Medical Director of Metabolic Genetics As the 16th annual WORLDSymposium on lysosomal storage disorders (LSDs) is this week, I find myself reflecting on the many advancements that have been made since I started my first clinical genetics fellowship just 10 years ago.  I am excited to join the unique mix of…

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World Cancer Day: The importance of germline genetic testing in prostate cancer

By Sarah Nielsen, MS, LCGC

As a healthcare provider, you already know how prevalent and burdensome prostate cancer is on patients and their families. Although the cause of this common, deadly cancer still remains unclear in many men and its etiology continues to be explored. It is now recognized as more than just an inevitable disease of aging.  Research has…

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Automating the translation of science to continually improve genetic tests

Alexandre Colavin was recently announced as a winner of the 2019 Innovator Under 35 Europe award by MIT Technology Review in recognition of his work to improve variant interpretation for genetic testing. In this post, Alex recounts the motivation and challenges of translating his research and some next steps for variant interpretation at Invitae. Road,…

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The genetics of pancreatic cancer

When Alex Trebek was diagnosed with pancreatic cancer earlier this year, it put a spotlight on a condition that hasn’t received enough coverage: pancreatic cancer. With 56,000 adults diagnosed in the US every year, pancreatic cancer has quietly become the fourth leading cause of cancer death in men and women in the US. While most…

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What is a genetic counselor?

Kate Lynch and Sienna Aguilar, Genetic counselors at Invitae

November 14th marks the third 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 about…

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Hereditary cancer test menu update

At Invitae, we are committed to continually refining our services with the goal of offering the most comprehensive and medically-actionable genetic tests for our patients. To that end we’re excited to announce an update to our hereditary cancer testing menu. Genes added to our primary panels are genes that have a strong association with cancer…

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The story of sickle cell disease

by Julia Wilkinson

From height, to dimples, to hair color, our genetics can define much of our physical identity. These inherited traits affect not only our looks, but also our health. Sickle cell disease (SCD) for example, is one of many inherited disorders that can be passed down through genes from parents to their child. However, unlike a…

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Now a UnitedHealthcare Preferred Lab Network Provider

Invitae is pleased to announce that we’ve been named a Preferred Lab Network Provider with UnitedHealthcare. This designation is a reflection of our ongoing commitment to making high-quality genetic testing both affordable and accessible. From UnitedHealthcare: UnitedHealthcare is working to make it easier to identify and choose lab providers who have committed to the Triple…

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How much do you know about genetic testing?

It’s National DNA Day, a day when students, teachers, and the public can learn more about genetics and genomics. The day commemorates the discovery of DNA’s double helix in 1953 and the completion of the Human Genome Project in 2003. To celebrate DNA Day and spread awareness of how our genes and genetic testing can…

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Genetics Insider: March 2019

Literature review  New guidelines for breast surgeonsThe American Society of Breast Surgeons (ASBrS) has expanded its genetic testing guidelines. The new recommendations include: • Genetic testing should be made available to all patients with breast cancer. • Patients who had genetic testing previously may benefit from updated testing. Tools for Pitt-Hopkins syndromeThe first consensus statement for…

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Largest study to date on prostate cancer patients finds 17% have disease-causing variant

By Piper Nicolosi, Ph.D. In collaboration with Tulane University School of Medicine and published in JAMA Oncology,1 Invitae’s team of scientists, medical geneticists, clinical oncologists, and genetic counselors examined 3,607 men with a personal history of prostate cancer and found that approximately 17% had a positive disease-causing genetic variant (defined as pathogenic, likely pathogenic, or…

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Genetics Insider: January 2019

Literature review   Invitae news   Diagnosing difficult diseasesThe Undiagnosed Disease Network (UDN) studied changes in medical management for previously undiagnosed patients who subsequently received a genetic diagnosis. • The UDN applied a multidisciplinary model for evaluation of 601 patients referred to the program. • Establishing a diagnosis led to 21% of patients receiving changes to their…

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Not all genetic tests are created equal

By Ed Esplin, M.D., Ph.D., FACMG, FACP

Genetic tests that are not comprehensive may provide a false sense of confidence or risk for patients wanting to understand their potential for developing heritable breast cancer. Genetic testing was originally available only to medical specialists and genetic counselors for the purpose of diagnosing disease. As technology improved and costs for sequencing have come down,…

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Guidelines miss breast cancer patients who could benefit from genetic testing: Part 2

The field of genetic testing is evolving rapidly as technology improves, cost decreases, and guidelines for selecting candidates for testing expand to meet clinical demand. Whether for surgical guidance, diagnosis, or preventive measures, patient access to genetic testing for hereditary breast cancer is often restricted by clinical guidelines. These guidelines are continually evolving—just not fast…

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Updates to the Invitae Carrier Screen

Invitae is pleased to announce that we’ve made a number of updates and enhancements to our Invitae Carrier Screen to help better serve you and your patients. Improved panel customizationWe recognize that each of your patients has unique needs, which is why our carrier screen is now fully customizable. You can order just one gene…

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Genetics Insider: Inaugural edition

Welcome to the inaugural edition of Genetics Insider! As your partner in genetic testing, we’re working to gather the most up-to-date resources for you. Every other month, we’ll bring you updates from the community, as well as inside Invitae. We hope you enjoy and, as always, invite your feedback. Thanks for partnering with Invitae! You’ve…

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Common patient misconceptions about PGT-A

Misconceptions abound about preimplantation genetic testing for aneuploidy (PGT-A). The good news is that the misconceptions are 100% treatable—the trick is to find a way to communicate this complex information in a manner that is understandable for all patients. At the American Society for Reproductive Medicine (ASRM) annual meeting last week, Invitae presented a roundtable…

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Newborn screening patients benefit when clinical labs and healthcare providers collaborate

September is Newborn Screening Awareness Month. Newborn screening (NBS) is a public health program offered to all infants born in the United States and many countries internationally. The aim of this program is to identify babies potentially at risk for genetic disorders, where early diagnosis, monitoring, and treatment could greatly improve the prognosis of the…

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New data from >143,000 patients support universal CNV testing

According to a study we recently published in Genetics in Medicine, intragenic copy number variants (CNVs; deletions/duplications) are a substantial proportion of clinically important variants reported in genetic testing across diverse clinical specialties. CNVs explain a substantial number of molecular diagnoses in hereditary disease Invitae tested over 1,000 genes across 143,000 patients and found that…

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Guidelines miss cancer patients who could benefit from genetic testing: Part 1

Watch a 6-minute video summarizing this study  Current guidelines recommend that only a subset of cancer patients receive genetic testing. Yet recent data suggest that many more could benefit. In a study of 4,196 Medicare cancer patients published in Annals of Surgical Oncology, Invitae found that positive results are nearly as high in patients who did not…

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Genetic Information: More valuable when shared

Collaboration among patients, advocacy groups, and biopharma companies through genetic testing and patient engagement programs can remove barriers to genetic testing and simplify the diagnosis of rare disease Invitae programs and partnerships highlighted during panel discussion at the World Orphan Drug Congress USA 2018 There are as many as 30 million rare disease patients in…

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Cancer panels updated to match NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®)

Invitae is pleased to announce that we’ve updated five hereditary cancer panels to meet the NCCN Guidelines®.1,2 Colorectal cancer Based on the latest NCCN Guidelines,1 we’ve added the following genes to our offering: MSH3, associated with an increased risk for polyposis3 NTHL1,* associated with an increased risk for polyposis4-6 RPS20, a preliminary-evidence gene potentially linked to colorectal cancer…

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NCCN issues new guidelines for genetic testing in prostate cancer patients

The National Comprehensive Cancer Network® (NCCN®) recently updated their guidelines1 for genetic testing in prostate cancer. Data presented at ASCO 2017 showed that the existing guidelines were too narrow. The new guidelines recommend consideration of germline genetic testing in the following patients: All men with high-risk, very high-risk, regional, or metastatic prostate cancer All men with any…

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Is it better not to know?

Bethany Meloche, advisory board member of Charcot-Marie-Tooth Association and patient

Charcot-Marie-Tooth (CMT) disease is a group of hereditary neuropathies characterized by progressive muscle weakness and sensory loss in the arms and legs. Individuals in the early stages of the disease often present with clumsiness due to numbness in the feet. As the disease progresses, the lack of nerve conduction to the extremities can also result…

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Genetic testing: An integral component of cardiovascular medicine

Three digital pocket guides can help identify patients for testing

More than 1 in 200 people have an inherited form of heart disease such as cardiomyopathy, arrhythmia, vascular disease, or hypercholesterolemia. Individuals with these conditions may have few or no symptoms but still face significant risks, including sudden cardiac arrest. Early identification of these at-risk individuals can be life-saving, as is identifying asymptomatic family members…

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Setting the standard: Invitae helps adapt the ACMG/AMP variant classification framework for inherited cardiomyopathies

Invitae cardiology genetics expert John Garcia on the importance of consistent variant classification and a collaboration to make recommended modifications to the ACMG variant classification framework. Sequencing DNA isn’t enough. A genetic sequence must also be translated into medically actionable information, in a manner that is both accurate and consistent across testing laboratories. In 2015,…

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Finding answers for Ben:
A journey of discovering creatine transporter deficiency

Amy Perry, the mother of a child with creatine transporter deficiency

  Creatine transporter deficiency (CTD) is a rare metabolic disease that affects the way creatine is transported to the brain and muscles. Creatine is a natural substance that plays a major role in energy generation within cells. Lack of creatine can cause growth and developmental delays, including abnormalities in expressive and cognitive speech, as well…

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Lower patient-pay price: $250

We’ve lowered our patient-pay panel price from $475 to $250. Invitae’s mission is to make high-quality genetic testing affordable and accessible to everyone who needs it. Today we’ve taken another step forward on behalf of patients. To help patients who do not meet coverage policies for testing, have high-deductible plans, or aren’t covered by insurance,…

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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. Neurology Invitae Amyotrophic Lateral Sclerosis Panel Invitae Cardiomyopathy and Skeletal Muscle Disease Panel Invitae Charcot-Marie-Tooth Disease Autosomal Recessive Panel Invitae Charcot-Marie-Tooth Disease Comprehensive Panel Invitae Combined Hereditary Dementia and Amyotrophic Lateral…

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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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Self-reported data from a patient registry is a valuable resource for researchers

By Vanessa Rangel Miller, Invitae

Invitae’s Patient Insights Networks (PINs) are web-based patient opt-in registries that can provide reliable data for researchers, particularly for rare diseases. Disease registries are not a new concept in clinical research. Investigators have long used registries to aid in hypothesis generation, data mining, and clinical trial recruitment, among other utilities. Yet there remains some skepticism by…

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Are you missing patients who need genetic testing?

It’s national hereditary breast & ovarian cancer week. Are you ensuring that all patients who qualify for genetic testing get it? An estimated 1.2 to 1.3 million women in the US with breast or ovarian cancer who qualified for genetic testing failed to receive it1 More than 85% of patients with breast cancer and 80%…

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Need guidance on integrating cardiogenetics into your practice?

Wondering how to best utilize genetic testing in your cardiology practice? Professional societies have long recommended genetic testing in the care of individuals and families with inherited cardiovascular diseases.1-5 Recognizing the obstacles to integrating genetic testing into every cardiology practice, recently published articles highlight why, when, and how to offer genetic testing appropriately and effectively in your practice.6,7…

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Newborn Screening Awareness Month

Please join us this September and all year long, as we recognize the importance of newborn screening and the dedication of all the clinicians who protect the health and wellbeing of our most vulnerable population. When a newborn receives a positive genetic screening result, the world can seem to come to a halt for the…

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How do embryo biopsy techniques influence results?

Preimplantation genetic testing, including screening for aneuploidy (PGS or PGD-A) and diagnostic testing (PGD) for monogenic diseases or unbalanced translocations, is a tool for embryo testing aimed at identifying the euploid and/or non-affected embryos produced during an IVF cycle. When the technique is optimally applied, it can prevent the transfer of an embryo with a…

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Food Allergy Research & Education (FARE) launches PIN

Food Allergy Research & Education (FARE) has launched the FARE Patient Registry, which leverages Invitae’s Patient Insights Network (PIN) platform to enable permission-based sharing of patient data to advance the understanding and treatment of inherited health conditions. The FARE Patient Registry amplifies patients’ voices and insight to accelerate research to uncover the causes of food…

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Microarray testing, a prime solution in diagnosing neurological disorders

Historically, epilepsy and other common neurological disorders such as autism have been described based on their clinical features. They were grouped this way to assess response to treatment and to aid in diagnosis. In the modern era, genetics increasingly plays a role in determining these disorders’ etiology and influencing treatment decisions. For children with autism…

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OlympiAD trial: BRCA-positive mBC outcomes improved with PARP inhibitor

Targeted therapies are few for patients with HER2-negative breast cancer. A phase III trial presented at the ASCO Annual Meeting1 described a way to identify potential therapeutic benefit from a PARP inhibitor: BRCA status. The OlympiAD trial demonstrated that the PARP inhibitor olaparib yielded improved survival over chemotherapy for HER2-negative metastatic breast cancer (mBC) patients…

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Leading with quality: Variant classification

What does it mean to be at the forefront of genetic testing? At Invitae, we believe it includes both high quality testing and a dedication to improving medicine through data sharing. We recently published our approach to variant classification in Genetics in Medicine, the official journal of the American College of Medical Genetics and Genomics…

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Ask the expert: Common questions about cystic fibrosis

We’ve teamed up with one of our in-house experts to talk about the importance of screening for cystic fibrosis. In the short video below, you’ll hear from Dana Neitzel, one of Invitae’s licensed genetic counselors (who was formerly at Good Start Genetics). Dana has a wealth of knowledge when it comes to cystic fibrosis and…

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The importance of genetic testing for stillbirth and miscarriage

The American College of Obstetricians and Gynecologists (ACOG) notes in Practice Bulletin #102, “Management of Stillbirth”, that stillbirth (a.k.a. intrauterine fetal demise, IUFD, or fetal death) is one of the most common adverse obstetrical outcomes, occurring in approximately 1 in 160 births at ≥20 weeks of gestation. These tragic losses affect approximately 26,000 patients per year in…

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Major expansion of metabolic disorders & newborn screening and immunology offerings

Invitae is excited to announce the launch of 80 new and 24 expanded genetic test panels, centered on our metabolic disorders & newborn screening and immunology clinical areas. The panels provide clinicians, patients, and payers greater flexibility to access high-quality, affordable genetic information across a larger number of metabolic disorders and newborn screening options as…

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Expanding the phenotype of FLNC-associated disease

Missense variants in the gene filamin C (FLNC) have a longstanding, well-established association with myofibrillar and distal myopathy.1,2 An important study recently published in the Journal of the American College of Cardiology expanded the clinical presentation associated FLNC by specifically linking protein truncating variants with cardiac phenotypes exclusive of myopathy.3 The group identified 23 unique truncating variants…

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Leading with quality: Deletions and duplications

Did you know that Invitae analyzes deletions and duplications for each and every gene in all our panel tests at no additional charge? Diagnostic genetic testing requires a carefully constructed medical assay to thoroughly interrogate genes of interest. Invitae’s assays comprehensively report sequence changes and deletion/duplication events in coding exons, splice sites, and other regions…

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Rare Disease Day is less than a week away

On February 28th, the rare disease community comes together to raise awareness of the impact of rare diseases on millions. For the 30 million people experiencing a rare disease, life can be filled with questions. Identifying possible symptoms of a rare disease often sparks a “diagnostic odyssey” that can stretch over many years. Fortunately, as…

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Leading with quality: Data sharing

Only through real and meaningful data sharing can the field of genetics reach its full potential. At Invitae, we’re dedicated to improving medicine not just by sharing segments of our data, but by sharing all variants, classifications and evidence. That’s not yet the industry standard—but it is at Invitae. Among other activities, Invitae has played…

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Exciting year ahead for genetic testing

2016 was an exciting year for genetics, and an important one for Invitae. Last year we provided genetic testing to more people than ever before, reduced our turnaround times, and expanded our test menu to over 1,100 genes. We also improved patient access to our testing by adding new insurance payers to secure coverage for…

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Major expansion of pediatric, neurological, and rare disease offerings

Invitae has launched 24 new and expanded 19 genetic test panels, allowing clinicians to gain information on 183 new genes with clinical and diagnostic significance. This launch represents a significant expansion of the company’s pediatric, neurological, and rare disease offerings, which include tests for genes associated with epilepsy, developmental disorders, overgrowth syndromes, and skeletal disorders, as…

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New leader in prostate cancer genetic testing

Genetic testing for prostate cancer has noticeably increased since the publication of landmark data showing testing may be underutilized when screening for and treating the second most common cancer in men. Invitae’s panel is the most comprehensive and affordable genetic test available to urologists and oncologists who treat men with prostate cancer, establishing the company as a…

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Behind the Seizure™ program launch

Last week at the American Epilepsy Society meeting in Houston, we launched a very exciting new program with BioMarin Pharmaceutical Inc. Behind the Seizure™ is a no charge epilepsy gene panel testing program for children age 3 years who experienced their first unprovoked seizures after the age of 2 years and meet certain clinical criteria. In…

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Invitae to add to pediatric and neurology offerings

We listened to your requests and are pleased to announce that in December we will be adding 27 new diagnostic panels and updating 19 current panels for pediatric and neurologic conditions. With this latest expansion of test offerings, Invitae provides clinicians, patients, and managed care partners with high-quality information across a wide variety of hereditary…

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Invitae offers shorter average turnaround times

Invitae is committed to providing high-quality genetic testing—easily and affordably. We understand that turnaround times are critical, with fast results eliminating anxious waiting periods and allowing implementation of the most appropriate clinical management plan. We’re pleased to announce that our continued efforts have made turnaround times even shorter than before: Standard orders: 10 to 21…

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Leading with quality: variant confirmation

There’s a lot of confusion out there around variant confirmation processes and how various labs conduct confirmation. Along with the confusion often comes misinformation. Did you know that Invitae uses multiple orthogonal technologies to confirm clinically significant findings? We’re dedicated to the highest quality genetic testing and back our testing with the very latest methodologies…

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Leading with quality: full PMS2 testing

Invitae’s mission is to make high-quality genetic testing accessible to everyone who needs it. This is the first installment of the Leading with Quality series, which walks you through the many stringent processes and standards we use to provide you with the answers you need — accurately and reliably. This week, we’re focusing on our…

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Lisa Yue

September is Children’s Cardiomyopathy Awareness Month

Lisa Yue, Founding Executive Director, Children’s Cardiomyopathy Foundation

#KnowYourHeart to understand heart disease in your family Every week, 25 children in the United States are diagnosed with cardiomyopathy, a chronic and potentially life-threatening heart disease. That equates to the number of students in a standard school classroom. As thousands of children head back to school this month, Children’s Cardiomyopathy Awareness Month gives us…

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Staying one step ahead of cancer, through genetics

Caroline Danforth

It is impossible to tell my story without beginning with my mother’s. Nearly 12 years ago my mother, Ute Danforth, assembled the family in our childhood home to tell us she had been diagnosed with stage four ovarian/peritoneal cancer. These grim tidings shocked us and propelled me into a state of denial that my treasured…

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Invitae announces major expansion of its neurology and cardiology test offerings

This morning, Invitae announced an expansion of our neurology and cardiology test offering, adding 11 new panels for heritable diseases. In addition, Invitae has updated 17 existing neurology panels and eight cardiology panels based on new discoveries in genetics research. With this latest expansion of its test offerings, Invitae will be able to provide clinicians, patients, and…

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Bob Nussbaum

Invitae’s ordering process evolves to enable more content at the same low price

Robert Nussbaum, M.D., FACMG, FACP

Invitae is committed to offering gene panels that are high quality, flexible, customizable, inexpensive, and—importantly—responsive to clinicians’ specific diagnostic questions or indications.  From the beginning, we designed our laboratory processes to be extremely efficient, which allowed us to test large numbers of genes at a low price. With the recent massive expansion of our catalog…

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Announcing our inaugural Genetics Genius winners

Earlier this year, more than 125 genetic counselors around the world tested their knowledge about hereditary cancer genes through the Invitae Genetics Genius program. Congratulations to everyone who took part! The quizzes weren’t easy, but we hope they encouraged participants to continue paying close attention in this ever-evolving field. Special congratulations go to our top…

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Sarah Foye

Genetic confirmation’s positive impact on my family’s health

Sarah Foye, Parent and Titin Family Advocate

“Negative.” “Normal.” “Fails to confirm the diagnosis of…” “Etiology of the patient’s disease phenotype remains unknown.” These are words I heard repeatedly in the first 11 years of my son’s life. Even as new genes for his condition were discovered around the world, negative (in other words, normal) genetic test results were reported back to…

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Invitae expands its test menu for neurological, pediatric, and rare genetic conditions, and adds new panels for inherited metabolic disorders and newborn screening confirmation

This morning, Invitae announced an expansion of our genetic testing offering, adding hundreds of additional genes and expanded panels for neurology, pediatrics, and rare diseases. In addition, we’ve also introduced an entirely new clinical testing area designed to complement newborn screening for metabolic and immunological conditions. With this expanded test menu, we will be able…

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Rare Disease Day: An opportunity to raise awareness

Stephanie Gandomi, MS, LCGC & Ed Esplin, MD, PhD, FACMG, FACP, Invitae

On February 29, 2016, we honor individuals living with rare diseases by raising awareness about Rare Disease Day. This year’s theme for World Rare Disease Day is “Patient Voice—Join Us in Making the Voice of Rare Diseases Heard.” The empowered patient can often be a key component of a successful diagnostic process, and an educated…

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Allison Cirino

Clinical trial seeks to change the course of hypertrophic cardiomyopathy

Allison L. Cirino, MS, CGC, Brigham and Women’s Hospital

February is American Heart Month. This month reminds us about the importance of a healthy lifestyle, regular medical care, and knowing your family health history. One important way to acknowledge American Heart Month is to consider participating in a clinical trial or, if you’re a clinician, referring your patient to one. Clinical trials can provide…

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Susan Domchek

Through PROMPT, researchers and patients advance hereditary cancer understanding together

Susan Domchek, Director of the Basser Center for BRCA

Genetic testing for cancer predisposition is more common than ever. A few years ago, most people were tested for one or two genetic variants at a time, but today laboratories like Invitae offer the opportunity to be tested for many genes linked to one or several hereditary cancer syndromes. That’s an important step forward. But…

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Leora Witkowski

SMARCA4: An invaluable resource for small cell ovarian cancer patients and their families

Leora Witkowski, PhD Candidate, McGill University

In women under 40 years old, small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is the most common undifferentiated type of ovarian cancer—in other words, the most common ovarian cancer in which the cells are more primitive and do not resemble ovarian cells. Although SCCOHT is a rare cancer overall, it is devastating, with…

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Gina Vozenilek

Epilepsy Awareness Month: A time to connect and rally

Gina Vozenilek, Director of Communications, The Jack Pribaz Foundation

At the peak of autumn, Epilepsy Awareness Month is like a homecoming for families of children who have a rare genetic diagnosis like KCNQ2-related epilepsy. When seizures begin within hours of birth, as they did for my nephew Jack, epilepsy often becomes a default medical “home.”  Without other diagnostic information, the greater epilepsy community is the first place you rally.…

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Genetic testing for epilepsy: covering all your bases

Ali Entezam, PhD, Clinical Genomics Scientist and Swaroop Aradhya, PhD, FACMG, Head of Genetic Diagnostics & Medical Affairs at Invitae

Personal stories from parents who have struggled to find the cause of their children’s epilepsy have a consistency to them: there are moments of disbelief, anger and frustration, great difficulties, and, quite often, a commitment to persevere. While it is often hard for an outsider to imagine these families’ lives, it is clear that epilepsy…

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Chris Tan

Hereditary spastic paraplegia and the impact of next-generation-sequencing multi-gene panel testing

Chris Tan, MS, LCGC, Invitae genetic counselor

High-throughput, massively parallel genetic testing, known as next-generation sequencing (NGS), has greatly improved the molecular diagnosis of genetic diseases, particularly neurological disorders.1 For disorders known to be caused by variations in multiple genes, NGS provides an opportunity for clinicians to more quickly and efficiently investigate the genetic cause than is possible using traditional methods like…

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Amy Daly

Cardiovascular genetic testing: complexity refined

Amy Daly, MS, LCGC, Invitae Genetic Counselor

Cardiovascular genetics has a history of changing how we think about genetic tests and results. We once counted on autosomal dominant disorders behaving a certain way, and many of us thought the rules of Mendelian genetics would easily translate into the growing world of cardiovascular genetics. But over the years we learned that things are…

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Jeffrey Botkin

The genetic testing of minors: Thoughts on the updated ASHG recommendations

Michelle Fox, in interview with Dr. Jeffrey Botkin

The genetic testing of minors has been a challenge for genetics professionals since the first genetic test became available. What makes genetic testing of minors special, requiring rules, regulations, and recommendations? Invitae recently discussed this question with Dr. Jeffrey Botkin, a professor of Pediatrics and Bioethics at the University of Utah and the lead author…

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Scott Topper

Panel testing: one tool, many uses

Scott Topper, Invitae Clinical Genomics

Clinical genetics is an incredibly fast-moving field. It’s propelled forward by improvements in technology, by the efforts of dedicated clinicians and scientists, and by the generosity of patients and families who consent to let the world learn from their experiences. Each day we better understand the genetic basis of certain diseases, the pathogenicity of particular…

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Keith Nykamp

Sherloc: Standardized and consistent variant classification

Keith Nykamp, Lead Scientist, Invitae

Genetics is the future of medicine. But how soon will it arrive? Thanks to tremendous advances in DNA sequencing technology, we can now quickly and at a remarkably low cost identify the letters of a genome. Yet the biggest challenge is still ahead. How do we translate the letters into a story, and what does…

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Michelle Fox

How to discuss genetic disease with your loved ones

Michelle Fox, MS, LCGC

Finding the right time to discuss sensitive issues with family members can be challenging. The need to start the discussion is often triggered by significant life events such as getting married, having a baby, receiving a cancer diagnosis, or developing medical problems that are difficult to diagnose. When it comes to genetic disease, there may…

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Yuya Kobayashi

Improving patient care through shared genetic data: where are we now?

Yuya Kobayashi, Invitae Clinical Genomics and Scientific Affairs

In the spring of 2014, my colleague John Garcia discussed the potential benefits of genetic data sharing. He hypothesized that as researchers and laboratories share more and more of their findings, these data will result in a greater understanding of genetic variation within the community and, ultimately, better patient care. A year later, how do…

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Jackie Tahiliani

Hypertrophic cardiomyopathy: a path down the yellow brick road

Jackie Tahiliani, M.S., CGC, Invitae Genetic Counselor

Hypertrophic cardiomyopathy (HCM), a complex disease that affects the heart muscle, initially captured the attention of physicians in the late 1950s as a “new” type of structural heart disease. Over the intervening decades, clinical advancements in cardiac imaging made the criteria for diagnosis of HCM clearer. Meanwhile, advancements in genomics led to the exponential decline…

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