Study: Preemptive Gene Testing Benefits Rare Disease Patients

For many rare diseases, the symptoms and experiences of patients are variable. It’s extremely rare – if possible at all – to see a rare disease that can be be given a description that accurately describes all affected individuals. Because of this, treatment has to be considered and catered to each individual patient. There is no ‘one size fits all’ approach.

In order to determine an individualized treatment approach, medical professionals must consider many variables, and it’s helpful to be armed with as much information as possible. Recently, a study conducted by the Baylor College of Medicine and the Mayo Clinic found that preemptive gene testing is extremely beneficial in helping doctors decide a treatment course.

Gene Testing and Individualized Treatment

Titled “Right Drug, Right Dose, Right Time: Using Genomic Data to Individualize Treatment,” this study utilized the data and bio samples from 10,077 patients who have been treated long-term at the Mayo Clinic. The research team pulled the DNA from these samples before isolating and sequencing 77 genes associated with drug metabolism or sequence – 13 of which put into patients’ electronic health records (EHR). They utilized targeted DNA sequencing in order to find rare genetic variants that could hold great clinical relevance. In fact, the information learned from this analysis may spur further research, as it discovered rare and unclassified genomic variants, alongside drug-gene variants.

After completing this exercise, the team found that nearly every single patient included in the study could have derived benefits from preemptive gene testing. Other results include:

  • Nearly 100% of participants were carriers of at least one of the 13 genes put into their EHR
    • 79% of the participants were carriers of three or more of these genes
    • It is predicted that there is an average of three additional, harmful genetic variants per study participant
  • The identification of two critical testing targets: human leukocyte antigen (HLA) region and CYP2D6
    • HLA plays a role in a number of the most well-known adverse events (AEs)
    • CYP2D6 is a known target within the industry, as it plays a role in metabolism/processing in a quarter of all of the drugs on market

Based on all of the data learned from this study, 2,782 eConsults were sent out to healthcare professionals (HCPs) that were actionable. Over half (54%) of these recommendations were accepted.

If this testing had been performed prior to the prescription of treatment, it could have helped patients get on a drug that is better suited for their situation. Hopefully, in the future, preemptive gene testing is employed more frequently so that patients may have better treatment plans and outcomes.

Find the source article here.

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