Have you ever heard of Pharmacogenomic (PGx) Testing? A PGx test is used by a physician as a dosing guidance tool to help treat patients who are prescribed certain medications. Gravity Diagnostics offers PGx testing through a simple swab of the cheek—the following panels provide data for genes that code for over 130 medications:

  • Mental Health/Pain Panel
  • Cardiovascular Panel

Here are a few examples of patients in Behavioral Health and OBGYN settings that have a greater need for PGx testing:

Behavioral Health

Did you know that approximately 50% of Americans will experience a mental illness during their lifetime? Medications can be quite expensive—PGx testing gives physicians a dosing guide to help reduce “trial and error” treatment. PGx testing will help patients receive the right dose of the right drug the first time, save costs on prescriptions, and have a lesser chance for adverse drug reactions (ADR).

Case study: A 33-year old male presented with mood swings, attention deficiency and signs of psychosis. The patient expressed several failed medication attempts to treat his ADHD and depression. Genetic analysis reported variants in the COMT and SLC6A4 genes—the patient was also found to be an intermediate metabolizer of the CYP2C19 gene. This sequence of variants may have caused an excessive build-up of dopamine in the patient’s system, allowing medication treatment attempts to fail and signs of psychosis. The SLC6A4 gene variant is also associated with poor SSRI (selective serotonin reuptake inhibitor) response, causing multiple medications used to treat depression to fail. Depression, anxiety, and attention span improved once treatment with a pharmacogenomic test was utilized.

OBGYN

Pharmacogenomics play a crucial role in OBGYN practices. The death of a newborn child could have been prevented by a pharmacogenomic test.

Case Study: A newborn infant began showing signs of distress during and after breastfeeding, only to pass away several days later. The mother was prescribed codeine for postpartum pain, which her newborn ingested through her breastmilk. After pharmacogenomic analysis, it was discovered that the mother had three copies of the CYP2D6 gene instead of 2, causing her to be an ultra-rapid metabolizer of codeine. The UBT2B7 gene was also analyzed—both the mother and the newborn were heterozygous, which is associated with being an ultra-rapid metabolizer of morphine metabolites. The toxicology test conducted on the newborn revealed a blood concentration of 70 ng/mL of morphine, whereas the normal levels for newborns receiving morphine are around 10-12 ng/mL. To summarize, the newborn accidentally overdosed on morphine. If the mother had a pharmacogenomic test performed before or during her pregnancy, her physician would have known to prescribe a lower dose of Tylenol, or alternative medication for this patient.

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