From Deep Genotype to Deep Phenotype

In the 60+ years since the description of the double helix, immense technical progress has been made in reading genomic variations and applying those findings to the prognosis and even diagnosis of disease states. But genomic studies are inherently limited: the genome does not exist in isolation from its multiple environments (nuclear, cellular, organismal, and beyond). Thus, there is usually no ascertainable direct path from genomic data to phenotype, except in cases where a single gene mutation results in obvious phenotypic alterations. Many of the so-called rare diseases such as Tay-Sachs, cystic fibrosis, and Duchenne muscular dystrophy are examples of a direct causal path, but even in these cases there can be wide, medically relevant phenotypic variations that are not easily explained – if at all — by genomic analyses. And it is unclear that simply sequencing more genomes will get us to the phenotypic knowledge needed to accurately diagnose, treat or even prevent disease onset.

Fortunately, there are ways to assess phenotype deeply in ways that are medically meaningful. Today, the tools are now at hand to “see” phenotype well beyond the resolution limits of the human eye, down to the levels of the individual proteins that can tell the presence, or even foretell the onset, of multiple diseases and conditions.

These new tools are only recently available: The ability to measure proteins widely and deeply as a way of more deeply visualizing phenotype has lagged well behind genomics, in large part because of the sheer complexity of the proteome when compared to the genome. While the genome is generally fairly static across multiple cell and tissue types, the proteome varies widely in identities and concentrations of particular proteins over the same spaces. Traditional technologies to assess protein differences have had to compromise: Either measure a few proteins across many concentrations (antibodies/ELISAS), or measure many proteins across a limited concentration space (mass spectrometry, 2-D gel electrophoresis).

SomaLogic was founded to discover and apply a new protein measurement technology that could visualize thousands of proteins across a wide range of concentrations. The technology we developed, SOMAmer® reagents and the SOMAscan® assay, opens up a whole new way of deeply reading the phenotype in a way that can provide critical new information that will guide personalized medical decision making.

Although our goal as a company is to apply our technology to the transformation how diseases are detected, diagnosed and treated, it became clear to us early that the ability to rapidly and reliably measure protein changes in a variety of research settings was a huge unmet need across the life sciences field. Thus, once we had satisfied ourselves that the technology far exceeded anything else available, we made it available to researchers worldwide to accelerate their own proteomics work.

Please contact us to learn more about how SomaLogic can help you accelerate your research by deepening your phenotypic knowledge.