As a geneticist and researcher, I believe in the power of genetic testing. By identifying genetic mutations, we can improve care
and save lives
But just because we can
test something doesn’t always mean we should
Take the MTHFR
gene, for example. MTHFR
codes for an enzyme that helps your body convert homocysteine into an amino acid that processes proteins. People with mutations or variations of MTHFR
may end up with homocystinuria, a disorder that affects the eyes, joints and other parts of the body. High homocysteine levels also have been connected to heart disease and strokes.
“Keeping an eye on which tests truly improve care and which ones may waste money is more important than ever.”
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Charis Eng, MD, PhD
Founding Chairwoman of the Genomic Medicine Institute
There is a genetic test for MTHFR
variations. But there’s also a cheaper and more accurate way to test for whether MTHFR
variations are causing disease. We simply check the levels of homocysteine in the blood. If levels are high, we can react appropriately. If homocysteine levels are normal — even if there is an MTHFR
variation — then nothing needs to be done clinically.
In other words, the homocysteine levels determine our actions, not the MTHFR
Simple test, simple solutions
Not only is the test for homocysteine levels simple, but so are the solutions. People with high homocysteine levels typically respond well to supplementation with vitamins such as B6, B12, and folate or folic acid
The same is true of other disorders that might be related to MTHFR
. For example, mutations in MTHFR
have been associated with some neural tube defects in babies. But rather than having an unnecessary test for MTHFR
gene variations, pregnant women should simply take prenatal vitamins that contain higher folate.
Folate effectively bypasses the problem — and it’s benign at the doses that come in vitamins.
Keeping care accountable
Variations of MTHFR
have been studied in connection to stroke, high blood pressure and heart disease, as well as bipolar disorder and other conditions. But the associations have not been established as clear-cut. Until they are, most geneticists — myself included — feel a test for MTHFR
is not necessary in the vast majority of cases.
In an era when affordable, accountable care
is crucial, keeping an eye on which tests truly improve care and which ones may waste money is more important than ever.