Case Studies

Real People, Real Results

Anthony, 62-year-old male*

Careful medication therapy is a critical part of any diabetic’s life. While nateglinide can be very helpful in controlling blood sugar levels, a variation in Anthony’s DNA caused an excessive concentration of nateglinide in his blood – essentially an overdose. This caused severe hypoglycemia and put Anthony in a life-threatening diabetic coma.

After his hospitalization, including several days in intensive care, Anthony’s pharmacogenomic testing showed a variation in his CYP450 enzymes, an essential component of drug metabolism. This test showed exactly why his body processed nateglinide as it did and detailed a range of safer alternative medications without having to endure a trial-and-error approach.

Lindsay, 42-year-old female*

For many patients with depression, finding the right medication can involve a long process of trial and error. More than half end up trying more than one medication, with some struggling for months to find an effective therapy.

When Lindsay was first prescribed fluoxetine, pharmacogenomic testing showed a metabolic variation that left her with a both a poor ability to metabolize fluoxetine (and other anti-depressants) and an increased risk of side effects. By just taking fluoxetine at the standard dosage, she would be at increased risk of a serious complication in which an excess amount of serotonin floods the brain. Symptoms include but are not limited to gastrointestinal problems, hallucinations, tachycardia, and coma.

Pharmacogenetic testing allowed Lindsay’s physician to confidently switch to sertraline, a safer and more appropriate medication for her, without having to try multiple medications first.

Andrew, 16-year-old male*

After having four wisdom teeth removed in a routine, outpatient procedure, Andrew was sent home with a prescription for Tylenol #3 – acetaminophen and codeine. After taking an initial dose at home, Andrew lay down to sleep and was unusually difficult to rouse four hours later. A subsequent PGx test showed extra copies of the CYP2D6 gene, causing him to be an ultra-rapid metabolizer of codeine. He had, effectively, mildly overdosed on codeine as a result.

CYP2D6 is responsible for metabolizing one quarter of all prescribed medications, making his ultra-rapid metabolizer status worth checking against any future prescriptions as there are several other opioids and psychiatric medications that depend on the same gene for efficacy.

* While these studies reflect real conditions and real results from RxGenomix clients and associates, names used are for illustrative purposes only and do not correlate to any particular individual.