We focus on actionable genetic risks; evidence based genetic risks that you and your patient can do something about. We frequently re-analyze existing patient genetic data and you will be alerted if an important new issue is found for a patient.
For medications, our goal is to check for those medication-genome interactions for which there is sufficient medical evidence for a physician action. Our team of PharmD's reads the actual articles and rates them. Currently, we check for hundreds of medications based on dozens of genes. Medications for which the evidence is not sufficient or contradictory are not included.
For non-medication risks, our focus is on evidence based actionable risks. Those risks include the ACMG recommendations and some additional risks based on our evaluation of the literature and academic advice. We also now include carrier status for many conditions.
ActX is a constantly updated service, not a static report. We frequently review the literature and update the information that we provide as necessary. If you use ActX inside an integrated Electronic Health Record, we will check each prescription you write for an ActX patient against our latest KnowledgeBase. We will also alert you if a new non-medication risk is found for an existing patient.
We emphasize the reduction of false positives. Our genotyping process is quite accurate, but for serious non-medications risks, we are often testing for rare variants. As a result, for serious non-medication risks such as Lynch syndrome, we use an orthogonal testing process, Sanger sequencing, to confirm the variant finding prior to returning it.
ActX is intended for informational and not diagnostic use. High risk patients for serious genetic risks should be tested using diagnostic gene specific sequencing tests (such as those for BRCA1 and BRCA2). In addition, if we do return a serious, non-medication risk we recommend confirmatory testing and evaluation by a genetics specialist.