Digital Health Done Right is a Redox Blog Series that shines a light on a member of our interoperable network. We believe in what our partners are doing and want to share their stories and outcomes with you.
Many healthcare companies take a reactionary approach to treating conditions—they manage pre-existing diseases or help determine which care path will enable patients to heal quickly and efficiently. To be sure, this approach is entirely necessary, and these types of applications give people the tools they need to take control of their health. But at the same time, applications that take a proactive approach to healthcare are just as valuable.
When thinking of technology that helps keep people healthy, gadgets like Fitbit and other fitness trackers come to mind. Beyond simple wearables, though, are more advanced and scientific ways of evaluating one’s health—genetic testing, for example, is one of the primary (and most telling) ways someone can gain deeper insight into their genetic makeup and current health. Knowing that you’re predisposed for heart disease and modifying your diet and exercise accordingly can easily add years to your life; knowing that a particular syndrome runs in your family can also make you aware of possible conditions your children may inherit.
Beyond being aware of possible conditions, testing and knowing the genetics of your child before they’re even born can help families take steps in ensuring their children have the healthiest and happiest lives possible.
This is the driving thought behind Natera, a San Jose-based company founded by Matthew Rabinowitz that’s determined to elevate the science and accessibility of genomic testing. Years ago, Rabinowitz was inspired to get into genetic testing when his sister’s child died of complications from Down Syndrome. He was stunned that despite all of the modern technology at the hospitals’ disposal, his niece’s condition was not known before her birth.
Natera was founded to give parents the most accurate information about their child’s health as early as possible so that they may know what conditions (if any) their child has and how they can best plan and provide care to manage them. To do this, Natera developed three main reproductive genetic tests that precisely and efficiently measure mutated fragments of DNA taken from blood samples. Each serves a unique purpose:
- Horizon Carrier Screen – Most people are carriers for at least one genetic disease, whether or not it’s present in any family members, and knowing whether you are (and what disease you carry) can help make more informed family planning decisions. Via a simple blood draw before or during pregnancy, Horizon screens for over 250 conditions including Cystic Fibrosis, Fragile X, Duchenne Muscular Dystrophy, and Spinal Muscular Atrophy. Patients can select which conditions they’d like to screen for based on personal preference, doctor recommendation, or even ethnic background. Horizon returns a simple “positive” or “negative” result, fact sheets, and patient-friendly videos that help people learn what their results mean.
- Spectrum – This test is a 99% accurate preimplantation genetic screening (PGS) that’s available to parents undergoing IVF treatment. The Spectrum screening takes cells from an embryo sent to Natera and examines the DNA for extra or missing chromosomes specific to inherited genetic disorders. Down Syndrome, for example, is an excess of Chromosome 21, and this test allows Natera analysts to see whether or not an embryo has this genetic abnormality. Doctors can use this test to evaluate which embryos would be the most viable for implantation and have the greatest chance of experiencing a healthy pregnancy.
- Panorama – This is a noninvasive prenatal screening test (NIPT) that provides a baby’s risk for certain genetic disorders. Available for use as early as nine weeks into a pregnancy, Panorama takes a simple blood draw from the mother’s arm and uses advanced bioinformatics technology to detect DNA from the baby. This DNA is then screened for genetic abnormalities such as molar pregnancy, triploidy, and vanishing twin syndrome (it can also determine the gender of the baby at nine weeks!). Panorama then delivers either low-risk or high-risk results back to the care provider to discuss with parents.
These three core screenings give expecting parents valuable insight into the health of their child and allows them to make reproductive decisions armed with more comprehensive information on their genetics. Beyond these tests, Natera offers genetic testing to help determine the cause of miscarriages (Anora) and also a service called Evercord which enables parents to obtain and preserve their baby’s stem cells.
Beyond Prenatal Testing
With such precise, accurate, and proven methodology, Natera’s genetic tests have the capacity to be applied to screenings beyond reproductive health. Early cancer diagnoses is a field that could benefit immensely from noninvasive genetic testing, and Natera hopes to bring their technology to the liquid biopsy space to help analyze the overall mutation load in cancer patients via only a blood sample. They’re hopeful that in using their testing approach, researchers could detect variants in DNA that may not be able to be detected by traditional tissue biopsies. Furthermore, Natera’s testing methods may be able to identify mutant DNA before medical imaging can even see tumors.
Natera is partnering with world-class oncology centers like Stanford University and Columbia University to collaborate on research and clinical trials. Early identification is critical to a positive cancer prognosis, and the potential Natera has in improving the lives of millions of people is both promising and incredibly exciting.
Making Genomic Testing Accessible
The genomic testing Natera conducts in their lab is cutting-edge, so much so that labs sometimes do not have the infrastructure to begin conducting similar testing. Because there is a growing and serious demand for genomic testing, Natera developed Constellation, a cloud-based software application for clinical genomic analysis to be used by external systems.
Rather than sending samples to Natera’s lab, Constellation allows genomic data to be interpreted on site at health system labs. Having developed it for use in their lab, Natera realized the benefit of making it available to other organizations who wanted to advance their genomic testing capabilities but did not necessarily have the time, resources, and infrastructure to do so. Constellation gives them access to Natera’s tests, technology, and algorithms while also providing them with a framework to conduct analyses within.
To effectively bring Constellation to health systems, Natera partners with Redox to integrate with health system EHRs. With EHR integration, the data, analysis, and results Constellation records can be stored directly within a patient’s chart. This makes accessing results and utilizing them for patient care extremely efficient, and also minimizes workflow disruption by streamlining the collection, analysis, and documentation into one platform.
Natera’s data science is truly cutting edge, and Constellation makes the analysis of big data accessible to labs around the world. We’re proud to partner with such a wonderful company, and we’re happy they’re part of our interoperable network.
For more on Natera and all that they do, check out their website here.
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