Discovering More Genetic Variants Thanks to All of Us Data

Last Reviewed: May 23, 2023
118 newly identified genetic variants, some of which may cause a type of anemia. Reference: Geck, R.C., Powell, N.R., & Dunham, M.J. (2023). Functional interpretation, cataloging, and analysis of 1,341 glucose-6-phosphate dehydrogenase variants. American Journal of Human Genetics, 110(2), 228-239. Logo of the All of Us Research Program. An illustration of a double helix strand of DNA. The rungs or base pairs are represented as pairs of people reaching their arms over their heads and graspd magnifying glass.

Key points

  • 99.9% of our DNA is the same.
  • Genetic variants are the small differences in our DNA.
  • Data shared by All of Us participants revealed 118 genetic variants possibly linked to G6PD deficiency.
  • All of Us data may reveal genetic variants for other conditions.

Between you and a random stranger, about 99.9% of your DNA is the same. The differences in a tiny amount of your DNA make you unique. These differences are called genetic variants.

Most genetic variants are harmless. Some can protect against disease. But some genetic variants can cause a health problem. Understanding the link between genes and diseases is an important part of health research. New discoveries about genetic variants may lead to health care that is personalized to each of us.

Genetic variants in a gene called G6PD can cause a health condition called G6PD deficiency. People with this condition sometimes get a type of anemia, with fatigue, trouble breathing, and dizziness. For these people, anemia can happen when they eat certain foods or take certain medicines.

Researchers looked at data shared by All of Us participants to learn more about genetic variants linked to G6PD deficiency. The findings were published in the American Journal of Human Genetics.

Genetic Discoveries Thanks to Diverse Data

Scientists have already found more than a thousand variants in the G6PD gene. Still, some people with G6PD deficiency do not have one of the known genetic variants.

In this study, researchers used All of Us data to look for more G6PD gene variants. To do this, they looked at DNA information from samples shared by All of Us participants. They also looked at electronic health record (EHR) data to find participants diagnosed with G6PD deficiency with or without anemia.

By looking at DNA information and EHR data, researchers directly connected disease to genetic variants. They discovered 118 G6PD variants that had never been reported before.

Discoveries like this are possible because of the diversity of All of Us participants and the amount of information they share. When people from many backgrounds participate in research, scientists get a more complete understanding of health and disease.

A Future With Precision Medicine

This is just the beginning. Future studies could help researchers learn more about the variants found in this study. For example, can any of the variants help health care providers predict who will get anemia? Are any variants linked to more severe symptoms? With this information, health care providers may be able to better treat patients with G6PD deficiency.

This study shows how powerful All of Us data is for discovering more genetic variants and understanding how the differences in each person’s DNA affect their health. Knowing these differences can make precision medicine possible for more diseases. This means that medicine and treatments could be tailored to you and your DNA.

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