We’re all unique, and women’s health often depends on something you don’t hear much about, the very thing that makes you unique – your genetics.
If you’ve heard one thing about how genetics affects women’s health, you’ve probably heard about the BRCA genes. These two genes (BRCA1 and BRCA2) are key predictors of a woman’s predisposition to develop breast cancer at some point and testing can be extremely valuable in guiding choices for prevention and detection. But there’s another type of genetic testing that could be valuable for tens of millions of American adult women – pharmacogenomic (PGx) testing. It’s a mouthful for sure, so we just use PGx.
Your DNA is responsible for everything about your physical self – how tall you are, your hair color, your eye color, the shape of your face and even whether you’re right or left-handed. The same goes for which medications are best for you.
There is a small handful of genes (less than .5% of the total) in your body that determine how your body responds to medications. Your body relies on these genes working well to break down or transport these medications in your body. If the gene isn’t working right, the medication won’t work right. It’s a pretty simple idea, but could actually be a very dangerous thing.
In honor of Women’s Health Month in March, let’s look at three areas in which PGx testing can significantly benefit women’s health:
Pain Relievers
For pain relievers, let’s look at a common pain medication prescribed for an injury or for post-operative pain – codeine.
Codeine is a powerful pain medication that can be a real game-changer to head off serious pain after a broken bone, surgery, or even childbirth. When you take codeine, your body actually changes it into morphine inside the body, and relies on a gene called CYP2D6 to do so. And for CYP2D6 (and for most genes tested), a pharmacogenomic test will reveal you could be a:
As you might guess, everything is fine if you’re a normal metabolizer for that gene. Your doctor can give you the standard prescription, but things start to change after that. For intermediate metabolizers, a different dosage would probably be best. For poor metabolizers, the medication may not work at all to stop the pain, and ultrarapid metabolizers could be in for some trouble.
Codeine is what’s called a prodrug, meaning your body has to turn it into something else to be effective – morphine in this case. If you’re an ultrarapid metabolizer, that means your body turns a little codeine into a lot of morphine – more than is good for you. And, depending on just how much of an ultrarapid metabolizer you are, that could be very, very bad for you and lead to a toxic overdose. In the worst-case scenario, there are even documented cases of a nursing mother passing the morphine to her newborn through breast milk, resulting in the loss of the infant.
So, how likely is it you’re not ‘normal’ here? Some 31% of Americans and almost 50% of Europeans are something other than normal metabolizers for CYP2D6.
Antidepressants
According to the CDC, about one in ten women overall, one in five women ages 40 to 59 and nearly one in four women ages 60 actively use anti-depressants. It’s one of the most commonly prescribed classes of medications and women are twice as likely as men to take anti-depressants.
Just like with pain medications, antidepressants rely on one or more genetic pathways to become effective for that individual, and 50% of us have a genetic mutation that would make one or more classes of anti-depressants ineffective. Not starting with a PGx test means you’ll be playing the trial-and-error game, usually taking about four months longer to reach effective treatment and making about eight extra visits to the doctor in that time.
Breast Cancer Treatment
More than 260,000 cases of breast cancer were reported in the U.S. in 2019. In the unfortunate event a woman finds herself facing this disease, immediate and effective treatment could make a significant difference in stopping the disease in its tracks, eradicating it, and even surviving it.
Tamoxifen, one of the most common breast cancer treatments, is used to treat all stages of hormone receptor-positive breast cancer. Tamoxifen also relies on CYP2D6 for effectiveness, but nearly 26% of Americans have a genetic mutation that will render it less effective, or entirely ineffective.
Overall, pharmacogenomic testing can help women receive personalized, safe and effective medication therapy. For a wide range of conditions and medications, PGx testing can allow prescribers to start with a personalized medicine approach, and prescribe only the medications that are most genetically appropriate for that individual. Starting there will speed the time to effective therapy, improve outcomes and save money along the way.
Learn more about PGx testing for individuals at www.exactmeds.com