Pairnomix’s process of providing research services can be broken down into three steps.
1) Getting Started
We receive the genetic sequencing information from the patient or family, evaluate all potential avenues for researching the identified pathogenic mutation, and recommend a customized research plan. Should the patient choose to move forward with the research plan, we receive a signed service order from the patient’s physician.
2) Gathering Data
We gather additional background information from the patient and perform the research. First, we create a laboratory model of the patient’s specific genetic mutation and perform experiments to understand the impact of the mutation on cellular function. Then, we test more than 1,300 drugs against the modeled mutation to identify those that can reverse the mutation’s functional consequence.
3) Delivering Knowledge
We send a summary of our research findings to the patient’s physician, and provide ongoing support and research updates to the patient and family.
Our research findings are provided to the physician in the form of informational reports:
- The cellular characterization report describes the normal cellular processes that are disrupted by the patient’s mutation.
- The drug screening report gives information on any drugs that were found to improve the dysfunction associated with the patient’s modeled mutation and may therefore have the greatest potential to provide effective treatment.
The physician can then use the insights provided in these personalized reports to help inform the course of treatment they recommend.
Shown below are cover pages from sample cellular characterization and drug screening reports with all sensitive information removed. The full reports are provided to the physician upon completion of services.
Please note that our process typically takes between four and six months to complete, as the research we do requires time to be performed with care and accuracy.
We provide each patient, family, and physician with their own dedicated Patient Advocate to keep them updated and informed at every step of our process. The Patient Advocate provides additional support as needed and is also available to answer any questions relating to the findings presented in Pairnomix’s informational reports.