female lab assistant dropping sample on microscope

Drug – Gene Annotation

Studies show that over half of all primary care patients are exposed to drugs that have known drug-gene interactions; that 7% of FDA-approved medications and 18% of the 4 billion prescriptions written in the United States per year are affected by actionable drug-gene interactions; and that nearly all individuals (98%) have at least one known, actionable genomic variant that affects medications.

Our Drug-Gene Annotation app identifies genetic variants that affect drug metabolism, efficacy, and safety; and reports actual and potential drug interactions. Actual interactions are those where a genetic variant affects a currently active medication. Potential interactions are those where a genetic variant is present that can affect a medication, should the patient be exposed to it in the future.

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female research scientist taking sample

Problem – Gene Annotation

A microcytic anemia is not always due to iron deficiency, but instead may be a manifestation of a genetic condition known as thalassemia. Alpha-1-antitrypsin deficiency can be misdiagnosed as asthma. Asymptomatic genetic variants can be harbingers of serious conditions – for instance, BRCA1 variants may portend breast cancer and LDLR variants may signal hypercholesterolemia. What if we could take the guess work out of these and other similar scenarios? We can. Our Problem-Gene Annotation app returns identified genetic variants that are ‘associated’ with a given condition. Our expandable knowledge base allows for any type of association – for instance, a variant can confirm a diagnosis, suggest a new diagnosis, suggest a treatment for a diagnosis, affect medications commonly used to treat a condition, and potentially refute or suggest an alternative diagnosis. There may be additional associations important to you – we can add them.

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