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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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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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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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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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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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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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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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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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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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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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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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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Rachel Lampert

Looking for participants: HCM and LQTS studies on exercise and lifestyle choices

Rachel Lampert, MD, Yale University

How do exercise and other lifestyle choices impact the well-being of patients with hypertrophic cardiomyopathy (HCM) or long QT syndrome (LQTS)? Although it is recommended that all patients with HCM and most patients with LQTS avoid most vigorous sports, the overall risks and benefits of exercise remain unknown. To better understand how exercise and other…

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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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Dan Kvitek

­Full PMS2 testing at Invitae: We’ve got you covered

Dan Kvitek, R&D scientist, Invitae

Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer, is an inherited predisposition to many types of cancer, including colon, endometrium, ovary, stomach, and urinary tract.1 Most cases of this important cancer syndrome are caused by genetic variants in the genes MLH1, MSH2, and MSH6, but 4 to 11 percent of cases are caused by…

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Elizabeth Ouellette

CMTA patient and family conferences: emerging partnerships

Elizabeth Ouellette, Vice Chair, Charcot-Marie-Tooth Association Board of Directors

At 8 am on August 29, 2015, the Seaport Hotel in downtown Boston will open its doors to the Charcot-Marie-Tooth (CMT) community—patients, families, caregivers, clinicians, researchers, and sponsors, all coming together to network, collaborate, and partner in the fight against CMT. Affecting more than 150,000 Americans and 2.8 million people worldwide, CMT is a group…

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Katie Mastro

How to discuss genetic disease with your loved ones and other toolkits from Global Genes

Katie Mastro, Global Genes

There are currently more than 7,000 rare diseases identified worldwide, affecting about 350 million people globally. Approximately 80 percent of these are caused by genetic changes. Although many people value their privacy, there are a number of reasons why patients or parents of children with a rare disease might choose to share their diagnosis with others,…

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Dana Knutzen

The ‘possabilities’ are endless for Joubert syndrome

Dana Knutzen, board member, Joubert Syndrome and Related Disorder Foundation

This week, the Joubert Syndrome and Related Disorder Foundation (JSRDF) hosts their biannual conference in Chicago, Illinois. The conference brings together the world’s experts on Joubert syndrome as well as families touched by this disorder. This year’s theme, the Possabilities Project, focuses on the skills that children and adults with the syndrome can develop and…

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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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Amanda Burris

‘Knowledge is power’

Amanda Burris on getting tested for BRCA

As a young girl, Amanda Burris knew more about breast cancer than most adults. “Our family has a long history of breast cancer,” she says. “My great grandma, grandma, aunts, mom, and her cousins—they all had it.” After watching her 33-year-old mother and 39-year-old aunt battle the disease, Amanda decided to be tested for BRCA1…

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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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Federico Monzon

Familial pancreatic cancer: an inheritable disease

Federico A. Monzon, MD, Invitae Medical Director of Oncology

This week, Invitae representatives will be on hand at the annual Seena Magowitz Foundation Golf Classic, which raises awareness and funds to help fight the battle against pancreatic cancer. By taking part in this event, we hope to help raise awareness of hereditary pancreatic cancer and support the foundation’s efforts to enable early detection, increased…

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Amy Sturm Watch This Video

Identifying red flags for inherited cardiac disorders

Amy Sturm, MS, LGC, Ohio State University associate professor and genetic counselor

Everyone has heart disease in their family history; in the United States, it’s the number-one cause of death in both men and women. Yet there are certain red flags in family histories that can indicate an increased risk for inherited cardiac disorders. In this video, Ohio State University professor and genetic counselor Amy Sturm describes…

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Unsung heroes of clinical care

In honor of the American Society for Clinical Pathology’s Medical Laboratory Professionals Week, Invitae sat down with our laboratory directors for a Q&A about their experiences—from what brought them to the lab in the first place to what makes it all worthwhile. Anne Deucher, Martin Powers, and Adam Rosendorff keep the labs running at Invitae,…

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Daniela Iacoboni

The importance of responsible test ordering practices

Daniela Iacoboni, MS, CGC, Invitae genetic counselor

In the increasingly diverse next-generation sequencing genetic testing marketplace, Test Utilization Management Service (UM) is an important trend that promises to rein in the overuse of tests. This collaborative effort by pathologists, lab directors, and genetic counselors seeks to establish policies and algorithms that ensure the right test—and only the right test—is ordered for each…

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Raluca Kurz

CHEK2’s journey to bona fide inherited cancer susceptibility gene

Raluca Kurz, MS, LCGC, Invitae clinical genetic counselor

The discovery of the BRCA genes (BRCA1 and BRCA2) 20 years ago heralded a new era in cancer prevention. For the first time, it was possible to potentially glimpse the future to avoid cancer. However, only about half of the strong hereditary breast and ovarian cancer family histories were attributable to mutations in these two…

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Stephanie Gandomi

What will you do for Purple Day?

Stephanie Gandomi, MS, LCGC, Invitae

Epilepsy is one of the most common neurological conditions, affecting more than 50 million people around the world. Yet it remains widely unrecognized or severely misunderstood, and far too often patients are stigmatized and isolated. Invitae is working with advocacy groups to change that. In honor of World Epilepsy Day on March 26, we recognize…

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Colleen Caleshu

Racing Hearts 5K/10K race to support heart-disease care and research

Colleen Caleshu, lead genetic counselor and clinical assistant professor at the Stanford Center for Inherited Cardiovascular Disease

Heart disease is the number-one killer of both men and women, causing one in three deaths each year. On March 22, in honor of Heart Month, the Stanford Center for Inherited Cardiovascular Disease will host the Racing Hearts 5K/10K walk/run on the beautiful Stanford campus. Funds raised during the event will benefit care and research…

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We support Rare Disease Day 2015

Dione Bailey, head of Marketing at Invitae

February 28 is the eighth annual Rare Disease Day, but raising awareness for rare disease shouldn’t be confined to just one day. Here are a few of the ways that Invitae supports rare and genetic disease communities and research year round. We collaborate. We partner with and support some of the world’s leading rare disease…

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Benjamin Helm

Advances in genomic technology: not forgetting empathy and advocacy

Benjamin Helm, genetic counselor at Children’s Hospital of The King’s Daughters

Ongoing advancements in genetic technology and bioinformatics are increasing our knowledge of genomic variation and human health. Next-generation sequencing technologies can help identify the causes of numerous genetic disorders. Genetic testing provides information about a diagnosis, its prognosis and medical management, and information about the risks to future offspring or other family members. Genetic counselors…

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Learning from genetic counselors at the National Society of Genetic Counselors Annual Education Conference in New Orleans

Erynn Gordon, Invitae genetic counselor

In late September, about 2,000 genetic counselors and students from around the country gathered in New Orleans for the National Society of Genetic Counselors’ Annual Education Conference. Focused on providing up-to-date information on medicine, research, and counseling across all areas of genetics from prenatal care to cardiology to oncology, this is the only conference devoted…

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Watch This Video

Invitae’s ALS Challenge

Erynn Gordon, Invitae genetic counselor

Invitae was challenged by genetic counselors at Ohio State University Medical Center and 23andMe to take on the ALS Ice Bucket Challenge to raise awareness and money for ALS research.  Several of Invitae’s employees have been affected by ALS. One employee, when asked what the ALS challenge meant to her, described moving to California to…

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Laurence Baret Watch This Video

Working with patients in inherited cancer genetics

Laurence Baret, genetic counselor

An increasing number of people are now familiar with genetic testing, and many people now view it as a routine part of the diagnostic process. Genetic counselors work with patients to evaluate family history and other risk factors to determine if genetic testing is needed, and if it is, counselors help them prepare for and…

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Randy Scott Watch This Video

Genetics is about everybody

Randy Scott, biochemist and Invitae co-founder

Randy Scott talks about his family experience with rare genetic disorders and how it has helped shape Invitae’s mission: aggregate all the world’s genetic tests, lower the cost of genetic testing so that it’s affordable and accessible to nearly everyone, and fundamentally change healthcare.

Ghecemy Lopez Watch This Video

‘This is part of me, but it doesn’t define me’

Ghecemy Lopez on breast cancer

Ghecemy is a breast cancer survivor and an advocate for bilingual patient outreach Ghecemy Lopez still remembers a hug that happened 25 years ago. One afternoon as a young girl, she was visiting her grandmother’s best friend in her quiet hometown on the coast of Veracruz, Mexico. She’d regularly stop by to visit and always…

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Brian Vikstrom Watch This Video

Finding the answers we want

Oncologist Dr. Brian Vikstrom on genetic testing for cancer

Dr. Brian Vikstrom is a practicing community oncologist who mostly sees patients that have already been diagnosed with cancer, or people who have a strong family history of cancer and are interested in genetic testing. Dr. Vikstrom explains how Invitae is helping his efforts to find answers for his patients.

Erynn Gordon Watch This Video

Getting answers more quickly

Invitae genetic counselor Erynn Gordon on multi-gene testing for hereditary cancer syndromes

Erynn Gordon, genetic counselor at Invitae, explains how multi-gene panels have changed the landscape of genetic testing for hereditary cancer syndromes. Multi-gene panels enable healthcare providers to investigate syndromes at the same time, instead of taking several tests and waiting for the results each time. This means clinicians get answers more quickly and increases the…

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Steven Tucker Watch This Video

Removing the hurdles

Dr. Steven Tucker on hereditary cancer testing in international markets

Outside the US, patients may have more difficulty obtaining genetic testing, cost barriers may be greater, and health literacy can be lacking. Dr. Steven Tucker, medical oncologist and general medical internist, talks about hereditary cancer testing internationally and how Invitae is helping to remove these hurdles.

Federico Monzon Watch This Video

Giving more patients access

Invitae’s Dr. Federico Monzon explains how multi-gene tests are speeding diagnoses and making genetic testing more accessible

Genetic testing used to be done one gene at a time. Thanks to technological advances, many genes can now be tested at once. Dr. Monzon, a molecular pathologist, explains how multi-gene testing reduces the time it takes to get a diagnosis, and how new technology lowers costs and enables more patients to access genetic testing.

Invitae is pleased to offer scholarships for NSGC’s 2014 Annual Education Conference

Invitae is excited to be able to offer scholarships to ten (10) Full or New Genetic Counselor Members of NSGC to attend the National Society of Genetic Counselors 2014 Annual Education Conference (AEC). Scholarship recipients will receive complimentary full registration (including CEU fee) and a travel stipend of $570. Drawing together thousands of genetic counselors, the…

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John Garcia

Is better patient care dependent on sharing genetic data?

Invitae scientist John Garcia on reducing VUS rates through data sharing

The inevitable fall of VUS rates There has been a lot of discussion recently about the rate of Variants of Uncertain Significance (VUSs) in the field of genetic testing. The fact is that some VUSs are unavoidable in genetic testing; every patient has a background rate of genetic variants that cannot be definitively interpreted at…

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Ruby Gadelrab

Genome management? The rise of genome factories? A personal “Omics” cloud? A match.com for clinical trials?

Invitae’s Ruby Gadelrab on the audacious and achievable goals discussed at PMWC2014.

Over the course of two days last week, thought leaders from across multiple industries assembled at the Computer History Museum in Silicon Valley to discuss key themes in personalized medicine at the Personalized Medicine World Conference 2014 (PMWC).  Having been in the genomics space for over 17 years and as now part of team that leads…

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Jon Sorenson

What does it take to make next-generation sequencing truly clinical?

Jon Sorensen, Invitae bioinformatician

Like many people deeply immersed in DNA sequencing, my first introduction to next-generation sequencing was a packed, standing-room only panel discussion at the 2003 Genomes, Medicine and Environment conference (née GSAC).  It was two years before any NGS instrument was commercially available, and yet we had all gathered there because—although that year the price of…

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Jill Hagenkord

Are physicians ready for the tsunami of genetic information that is headed towards the medical community?

Jill Hagenkord on the upcoming impact of genetic data on patient care

Adapt or Perish: Why All Doctors Will Need To Be Geneticists Earlier this month our Co-founder Randy Scott, posted a blog where he talks about moving from a world of Genetic Scarcity to a world of Genetic abundance.  What are the implications for medical community? Lets face it, doctors don’t really know much genetics.  Yes, we…

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Randy Scott

Can sharing your genetic information save a life or accelerate a cure?

Randy Scott, Invitae co-founder, describes Invitae’s mission

Last week, the world took a huge step forward toward a new era of personalized medicine when the Supreme Court ruled that naturally occurring DNA cannot be patented.  We applaud the Supreme Court decision. Now that we have the freedom to test all genes known to cause a hereditary disorder, we need to Free the…

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