Problem - Gene Annotation - Smart on FHIR App Icon

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.

Features

  • Compares a patient’s problem list against their genomic data and reports identified interactions.
  • Preemptively scans a patient’s genomic data for variants that cause disease.
  • Implements American College of Medical Genetics and Genomics (ACMG) recommendations for reporting of secondary genomic findings.

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