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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…
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…
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…
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®,…
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…
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…
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…
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…
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…
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…
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…
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…
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,…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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,…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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,…
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…
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…
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…
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…
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…
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%…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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,…
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…
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…
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,…
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…
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…
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…
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…
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…
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…
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,…
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…
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…
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…
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…
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…
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…
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…
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…
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.
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.
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…
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.
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…
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…
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…
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…