Invitae is consolidating all diagnostic tests into one low-cost, simple test. Invitae is combining genetic testing services that support patient care throughout “life’s” journey — from inherited disease diagnosis, to family planning, to proactive health screening. With a unique, rapidly expanding network of patients, healthcare providers, biopharma and advocacy partners, Invitae is capturing the broad potential of genetics and helping to expand its use across the healthcare continuum. Through the custom design and application of automation, robotics and bioinformatics software solutions tailored to the complexity of sample processing and complex variant interpretation, Invitae can apply its world-class clinical expertise to medical interpretation at scale, simplifying the process of obtaining and utilizing affordable, high-quality genetic information to inform critical healthcare decisions while making genetic testing available to, one day, billions of people around the world.

By pioneering new ways of sharing and understanding genetic information, Invitae is transforming the field of genetics from “one-dimensional” testing to complex information management.

Invitae wants to bring comprehensive genetic information into mainstream medical practice. It’s a simple goal, but with wide-reaching, paradigm-shifting effects on healthcare as we know it. Ultimately, their goal is to aggregate a majority of the world’s genetic information into a comprehensive network. By doing so, it would position Invitae at the center of sharing of data among network participants to improve healthcare and clinical outcomes across the board. They would provide the means to have medical doctors to understand genetic reports, and all at a low cost.

Invitae’s technology is built on top of DNA sequencing technology, a technology that “reads” each of the 3.2 billion base pairs of DNA found in the human body. This series of DNA is the information code to how our body runs and makes up “genes.” Genes and gene variants determine phenotypic characteristics such as hair color, skin color, and pre-disposition to diseases. An allele is a variant form of a gene. Some genes have a variety of different forms, which are located at the same position, or genetic locus, on a chromosome. Humans are diploid organisms because they have two alleles at each genetic locus, with one allele inherited from each parent. As such, there is a network effect: If one person in a family has a rare, high-risk gene, it is possible that a family member has the same rare, high risk gene.

Invitae’s tests are designed to find and understand risk factors associated with different gene variants. By creating “polygenic risk scores,” Invitae can assess how the combination of possessing different combinations of alleles can increase the risk of developing a certain type of disease and through pharmacogenetics connect patients with the right treatment that they are genetically aligned to respond favorably to. With the data they amass and recent acquisitions and partnerships with large pharma companies, the company is aligned to conduct recurrence monitoring — testing to see if oncology patients are at risk of relapsing.

Invitae provides genetic testing across multiple clinical areas, including hereditary cancer, reproductive health, cardiology, neurology, pediatrics, metabolic conditions, and rare diseases.