People respond to medications differently because of variations in the genes that determine medication exposure and medication response. Below are stories about people who used raw DNA files they had previously obtained from at-home genetic testing kits for MyGenomeRx services. The educational information they received through the Personalized Pharmacogenomic Overview and Detailed Drug-Gene Report helped them navigate their medication therapy in collaboration with their physician.
Bruno's Story
Bruno went to see his physician for an
annual exam. Blood work showed he had a
total cholesterol of 260 mg/dL with an LDL
of 215 mg/dL. The decision was made to
start Bruno on simvastatin (Zocor). Bruno
complained to his doctor about muscle
pain and stiffness. Bruno ran a
MyGenomeRx Detailed Drug-Gene Report
and found he was SLCO1B1*5/*5, resulting
in low activity. SLCO1B1 is the main
transporter responsible for taking
simvastatin into the liver. SLCO1B1*5/*5 is
associated with higher exposure to
simvastatin (Zocor) and higher rates of
statin-associated muscle symptoms. Bruno took his drug gene report to his
physician, and his physician changed his statin to rosuvastatin (Crestor) rather
than simvastatin (Zocor).
Joanna's Story
Joanna was experiencing
chronic pain from
osteoarthritis. Her
physician prescribed
Percocet. She returned to
her doctor after a week as
she was still having
problems with
breakthrough pain.
Joanna was prescribed
Oxycontin. Joanna
returned after 10 days
and again reported no
significant relief in pain. During this period Joanna's daughter helped her upload
her raw DNA file and together they ran a MyGenomeRx drug-gene report with
Oxycontin and Percocet. It turned out Joanna was an intermediate metabolizer
for CYP2D6 (CYP2D6*4/*4; rs3892097) and neither Oxycontin or Percocet were
metabolized normally. Joanna took her report to her physician and Fentanyl
patches were prescribed, and they controlled her pain effectively.
Lena's Story
Lena, had a history of anxiety and depression. After Lena's mother died, her
mood deteriorated, to the point she spent most days in bed. Lena consulted her
physician, and the decision was made to begin medication for depression. Lena
started taking Sertraline (Zoloft) and over the course of three months, the dose
was increased to 200 mg daily, the highest recommended dose, but she wasn't
feeling better. After it became clear that Sertraline treatment failed to help, it was
swapped for citalopram (Celexa) but Lena's mood worsened even further. Her
sister helped her upload her raw DNA file to MyGenomeRx, and together they ran a
drug gene report with both sertraline and citalopram. The report showed Lena
was an ultra-rapid metabolizer for CYP2C19 (CYP2C19*17/*17; rs12248560), and
thus had low exposure to sertraline and citalopram. With this information, her
physician changed her medication to venlafaxine (Effexor) as it is not dependent
on CYP2C19 for activity.