Reading the Blueprint for Life
To achieve outstanding disease coverage and accuracy across multiple tests, molecular techniques must advance in tandem with statistical techniques. Natera’s proprietary technology – referred to as mmPCR or massively multiplexed polymerase chain reaction – allows us to target more than 20,000 genomic variations simultaneously in a single test reaction and to make sense of the deep and rich set of “big” biological data.
Our bioinformatics capabilities allow us to build billions of detailed models of the potential genetic states and compare them with known and measured genetic states of a target. This is used to determine the most likely diagnosis using a technique known as maximum likelihood Bayesian optimization.
This combination of our proprietary molecular and bioinformatics methods – which uniquely measures single nucleotide polymorphisms (SNPs) – is the cornerstone of Natera’s cloud-based infrastructure and highly accurate screening and testing solutions.
Natera's SNP-based Approach
In the human genome, single nucleotide polymorphisms (SNPs) are crucial to help us understand differences among individuals. These are the segments in the DNA sequence that can vary from person to person.
Natera uses SNPs, together with proprietary bioinformatics based on data from the Human Genome Project, for our analysis of DNA. Using this technology, our products test for a broad spectrum of genetic disorders and deliver results with exceptionally high accuracy. In the case of a mother and unborn child, we are able to use SNPs from a sample of the mother’s blood to separate the mother’s information from the baby’s information. This allows us to focus even more closely on the baby’s genetics.
By targeting SNPs, Natera can extract the maximum amount of data using a minimum of resources. This science has allowed us to expand our expertise to multiple areas of genetic testing. The opportunities afforded through SNP analysis are not limited to reproductive health. We expect in the future that these opportunities will include multiple aspects of human health and well-being, including cancer testing.
Precision Sets Natera Apart
The sensitivity, specificity and coverage of Natera’s tests are driven by our proprietary method of amplifying the DNA in a sample (mmPCR), and by our bioinformatics algorithm, which relies on a statistical technique known as maximum likelihood estimation (MLE).
MLE is widely used in other industries to enhance the quality of noisy or complex data inputs, such as in the conversion of a transmitted analog communication signal to a digital format. We have applied MLE to high throughput genetic data. Our ability to multiplex over 20,000 primer sets in a single experiment allows us to achieve a high signal to noise ratio, or the ratio of useful information to irrelevant data, when detecting small amounts of DNA within a much larger sample.
Constellation™ in the Cloud
This software platform is now expanding to laboratory partners worldwide, giving them access to Natera’s molecular and bioinformatics technologies. Constellation opens the door for these lab customers – via the cloud – to the same algorithms used in Natera’s own laboratory for raw genetic sequencing data. This empowers labs to validate and launch tests based on our technology, including non-invasive prenatal testing (NIPT).
Wealth of Published Data
The analytic and clinical validity of our technology has been described in multiple peer-reviewed publications, including these esteemed journals:
- Obstetrics & Gynecology
- Genetics in Medicine
- American Journal of Obstetrics & Gynecology
- Genome Medicine
- Human Reproduction
- Molecular Human Reproduction
- Fertility and Sterility
- Prenatal Diagnosis
- Fetal Diagnosis and Therapy