Example report. The whole genome example: a public genome from the 1000 Genomes Project, with CYP2D6 Structural Analysis, so you can see what yours will look like. Get your own report

Gaucher's disease treatmentsExample report

Eliglustat

Cerdelga

Use with caution

Your body breaks down eliglustat too quickly, which may prevent the drug from reaching levels needed to be effective. Your doctor may need to consider alternative dosing or treatment.

The genes behind this label

The guidelines read one gene for eliglustat. Each card shows the two copies this person inherited and what they mean.

CYP2D6*2/*2x2

Ultrarapid metabolizer

One copy works normally and one works faster than usual.

3.0 activity scoreTypical: 1.25 to 2.25

Turns on or clears about 1 in 4 prescription drugs. These include many drugs for depression, pain and ADHD.

This result changes the label.

What the guidelines say

What each guideline says about your result.

CYP2D6Ultrarapid metabolizer

FDA drug label

See the FDA table (U.S. Food and Drug Administration, opens in a new tab)

In plain words: Your body breaks down eliglustat too quickly, which may prevent the drug from reaching levels needed to be effective. Your doctor may need to consider alternative dosing or treatment.
What it means: Ultrarapid metabolizers may not achieve adequate concentrations to achieve a therapeutic effect.
What the label suggests: Eliglustat is indicated for normal, intermediate and poor metabolizers; ultrarapid metabolizers may not reach adequate concentrations.

About eliglustat

Eliglustat (Cerdelga) is a capsule for adults with Gaucher disease type 1.

Used for: Long-term treatment of adults with Gaucher disease type 1 who are CYP2D6 normal (extensive), intermediate or poor metabolizers