Orbit Genomics’ AI driven OrbiSeq technology platform analyzes repetitive DNA sequences known as short tandem repeats (STRs) or microsatellites. These sequences uniquely reflect both inherited predisposition to disease and risk acquired from lifestyle, including environmental exposures.  OrbiSeq is not Microsatellite Instability (MSI) Testing, which compares a few microsatellites in tumors to normal tissue. Instead, OrbiSeq analyzes microsatellites throughout the entire genome and is the only platform that can. Standard DNA sequencing algorithms are optimized for Single Nucleotide Polymorphisms (SNPs) and do not correctly assemble repetitive DNA such as microsatellites. OrbiSeq accurately assembles microsatellites, enabling the discovery of informative microsatellites in data that would be seen as noise by other technologies. OrbiSeq is based on over 20 years of research, supported by 7 NIH Grants totaling $15.6 Million, resulting in over 47 scientific published studies co-authored by our scientific founder and CSO – Dr. Harold “Skip” Garner. Recent improvements in NextGen sequencing combined with the addition of AI to our algorithms enable us to develop clinically actionable products. By analyzing thousands of human DNA sequences from blood samples and comparing diseased and healthy genomes, we have identified clinically actionable microsatellites which are specific to various diseases and conditions. Additionally, Orbit Genomics has also used this technique to develop companion diagnostics for drugs by comparing different traits in responders and non-responders to a given therapy.

The OrbiSeq technology platform is applicable to many diseases and conditions beyond cancer. It can be applied to other complex diseases, including heart disease and neurological diseases. Microsatellites mutate rapidly and reflect overall genome stability, making them ideal regions of interest for age related diseases and conditions. We’ve demonstrated the ability to diagnose diseases early and predict drug efficacy in individuals (CDx). OrbiSeq can also identify therapeutic targets for diseases.

What are microsatellites?

Microsatellites, or repetitive DNA, are defined as short tandem repeats of 1 to 6 base pairs. They are pervasive throughout the human genome in both coding and non-coding regions. For example, the DNA sequence “CAGCAGCAGCAGCAG” contains a “CAG” motif that is repeated 5 times. There are approximately one million microsatellites in the human genome.

Microsatellites are most well-known for their role in forensic and paternity testing. About 20 microsatellites that are known to vary among individuals are measured for all forensic and paternity testing.. Telomeres are another example of genomic regions containing microsatellites.  They are located at the end of chromosomes and are known to play a role in longevity.

Orbit Genomics explores all the microsatellites in the genome, providing a very different approach from other tests. Standard DNA sequencing algorithms are optimized for single base genetic mutation (SNP) analysis and don’t accurately analyze microsatellites. OrbiSeq’s proprietary algorithms incorporate AI and accurately analyze all microsatellites in the genome.

How are they different from other DNA sequence variations in the human genome?

Most genetic and genomic studies have focused on SNPs. These variants are characterized by a single DNA base (or nucleotide) change (for example a G to an A) and are often studied for their role in disease. Despite extensive study, they fall short of explaining the known or suspected genetic components of disease – especially complex diseases such as cancer, heart, or neurological diseases. Over 50 hereditary cancer syndromes have been identified: yet inherited mutations only account for 5-10% of all cancers. Complex diseases are caused by a combination of genetic mutations and environmental factors.

Fundamentally different biological processes change and maintain microsatellites compared to SNPs, making them more mutable and responsive to cellular stressors as well as environmental influences. This characteristic means that they are a more sensitive readout of overall cellular and organism health, providing better disease indication. Unlike SNPs which measure population risk, microsatellites measure personal disease risk and are a key missing piece to the genomics puzzle.