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…

Read More

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…

Read More

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…

Read More

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®,…

Read More

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…

Read More

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…

Read More

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…

Read More

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…

Read More

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…

Read More

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…

Read More

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…

Read More

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…

Read More

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,…

Read More

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…

Read More

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…

Read More

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…

Read More

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…

Read More

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…

Read More

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…

Read More

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…

Read More

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,…

Read More

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…

Read More