Pediatric testing
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…
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…
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…
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…
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…
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,…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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.…
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…
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…
Join us for Children’s Cardiomyopathy Awareness Month
Lisa Yue, President and Founder, Children’s Cardiomyopathy Foundation
When one thinks of heart disease, adults usually come to mind. The reality, though, is children can have heart disease too, often with more serious outcomes. I know because I lost my two sons to cardiomyopathy—a chronic and potentially life-threatening heart disease that affects the heart’s ability to pump and can lead, in severe cases,…
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…
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…
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…
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…
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…
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…
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…
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…
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…
“A hope for a healthier future”
Debbi Crowder
“We live in Kansas, where tornadoes are common, and foundations are important. When a large tornado swept through our town a few years ago, the houses built on a slab were destroyed. But the houses with basements, strong foundations, were the ones that survived. A family is much the same. When a family is built…
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…
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.
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.
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…
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…
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…