23andMe Improved its G6PD Deficiency Report

23andMe has updated its G6PD Deficiency Genetic Health Risk Report. The update includes testing for an additional variant linked to G6PD deficiency, a condition that can lead to episodes of anemia.

Two of the most common variants linked to G6PD Deficiency are V68M and S188F. Previously, 23andMe reported on just one of those variants, V68M. That variant is most common in people of African decent. It is also found in people with African ancestry, including people of Hispanic or Latino descent.

Now 23andMe has added another common variant, S188F, making the report relevant for more people. The S188F variant is most common in people of Southern European, Kurdish Jewish, Middle Eastern, Central Asian and South Asian descent.

Together these two variants make 23andMe’s report more comprehensive. The update is also consistent with 23andMe’s mission to ensure people, all people, can access, understand, and benefit from the human genome.

The effort to update the report was informed, in part, by discussions with the g6pd Deficiency Foundation, which works to raise awareness of this little-known disease. The foundation encouraged 23andMe to expand the scope of the report by including this additional variant.

The variants included in the report can reduce the levels or activity of an enzyme called glucose-6-phosphate dehydrogenase, or G6PD, a protein that helps protect red blood cells from damage. People with G6PD deficiency usually don’t have symptoms unless exposed to certain factors — such as certain medications, infections, or foods (like fava beans). Specific triggers may vary from person to person, and many people with the condition do not experience symptoms.

In a person with G6PD deficiency, a trigger can result in the destruction of red blood cells. If too many red blood cells are destroyed, this can sometimes — though not always — lead to episodes of anemia, which can be characterized by symptoms such as dark urine, fatigue, pale skin, shortness of breath, and more.

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