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Originally published on on April 15, 2020

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 a major purpose — and challenge — of medical genetics. Around half of individuals who get their DNA tested for diagnostic purposes are told they possess one or more DNA variant(s) of uncertain significance (VUS) because there…

Originally published on on October 8, 2020 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 also about figuring out if those differences are likely to affect the person’s health.

At Invitae, we take the challenge associated with finding the more difficult variants quite seriously. Yet variant detection is just one…

Originally published on on July 9, 2020

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 call these challenging variants “hard-to-do’s” and our data show that as many as 14% of pathogenic or likely pathogenic variants fall in this category. While some labs turn to costly and cumbersome tests…

Originally published on on December 7, 2018

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 enough, according to a recent study.

Research published by the TME Breast Care Network in collaboration with Invitae suggests that almost half of pathogenic or likely pathogenic (P/LP) variants in patients may be missed if…

Originally published on on May 18, 2018

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 meet criteria for testing as in patients who met criteria.¹

Positive rates for the pan-cancer panel* were similar among patients who met guidelines and patients who did not meet guidelines (10.5% and 9.0%, respectively). These…

Originally published on on December 17, 2018

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, genetic tests are now more accessible to anyone curious about their genetic health. …

Previously published on on February 7, 2019

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 increased risk allele).

Unlike previous studies in hereditary prostate cancer, study participants were unselected for Gleason score (a scale ranging from 2–10 that is used to evaluate the stage and prognosis of prostate cancer based on the…

Originally published on on October 28, 2016

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 approach to detecting mutations in the difficult gene PMS2.


Analyzing PMS2 is complicated by a pseudogene that is downstream of PMS2, called PMS2CL. The sequences of PMS2 (exons 12–15) and PMS2CL (exons 3–6) are almost exactly the…

Here’s what that could mean for you:

You may have read the title of this article and said, “What? I’m probably a carrier?!” While it may sound scary, it doesn’t have to be. In most cases, being a carrier is harmless, but if you’re thinking about having a family — whether that’s soon, or some day — knowing whether or not you are a carrier can help inform your options.

What is a carrier?

A carrier is a person who has a genetic variant that could be passed to future generations. Being a carrier doesn’t always mean you have a genetic condition or are experiencing any symptoms. …

Did you know that there are things you can do that may help your future child be healthy, even if you’re not pregnant yet?

A quick Google search turns up a mile-long list of things a pregnant woman can do to help her baby get a healthy start to life. But did you know that there are things you can do before you get pregnant that may help your future child be healthy?

Here are 4 ways you can get a head start:

1. Eat the rainbow

In addition to swallowing your prenatal vitamin every evening, paying attention to what you eat looks like…


Invitae Corporation is a genetics company committed to providing genetic information to help inform healthcare decisions throughout all stages of life.

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