Diagnostics Company Provides Clinical Interpretation of Genomics Data

The next phase of genomics-based medicine will provide clinicians with the tools they need to make faster, more precise and cost-saving decisions.

SV Bio’s (Foster City, CA, USA) turnkey genomics interpretation services query the patient’s genome at the POC and provide the biologic data in a concise, actionable report that medical generalists and specialists can easily use as a decision support tool. The platform fits into current clinical workflows and is able to take data from any next generation sequencer and determine, with clinical grade sensitivity and specificity, which genetic variants within a patient’s DNA sequence are influencing a disease or condition.

Many patients have already been helped by SV Bio diagnostic services. One case involved a family with two affected children who were initially thought to have autism spectrum disorder due to their language regression, IQ drops, and seizures at two years of age. Subsequent neurodegenerative decline puzzled physicians at leading medical institutions, and triggered a multiyear odyssey of clinical workups and focused genetic testing. Ultimately, the physicians turned to SV Bio, where the patient genomes were sequenced and the underlying genetic mutation in a gene named TPP1 was uncovered immediately.

The gene defect causes the rare disease late-infantile neuronal ceroid lipofuscinosis that is fatal by 8 years of age. The mutation was verified biochemically to be causative of the disorder, and allowed the children to gain access to a clinical trial that has shown promising results at halting the progression of the disease—a trial to which they would never have turned for a solution to a fatal disease in the absence of a specific molecular diagnosis.

“The transition is occurring very rapidly nowadays from genomics as a science to genomics as a key driver of clinical medicine and decision-making at the bedside,” noted Dietrich Stephan, PhD, SV Bio founder and CEO.

SV Bio is currently providing diagnostic testing services to physicians and centers of excellence for all heritable genetic conditions. These services include testing single genes and bundled gene sets for disorders that are genetically heterogeneous and for which the causative genes are known. In addition, testing of the entire genome is available for mystery illnesses or in cases where other diagnostic companies could not return a definitive result because the causative gene is not known, or in cases where a variant was detected but could not be classified as causative. SV Bio uses classification technology that provides precision of pathogenicity prediction for variants not been seen before—increasing sensitivity when coupled with the highest quality next-generation
sequencing of the entire genome.

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