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For almost 60 In recent years, hormonal contraceptives have liberated women from their own biology, giving them autonomy in decisions about family formation, when and when. But no form of hormonal contraception – pill, patch, ring, IUD – is 100% effective. Why that is, nobody knows exactly. New research now suggests that some of these mysterious failures may actually be due to differences in DNA.
In a study published today in the journal Obstetrics and Gynecology, researchers at the University of Colorado's Faculty of Medicine have discovered that about 5% of women possess a genetic mutation that allows them to produce an additional enzyme that dismantles hormones. This enzyme corrodes the effects of hormonal contraception on the suppression of ovulation, thus reducing its effectiveness. They also found two much more common genes that had smaller but still noticeable effects.
"The most important thing to remember is that we have been thinking for so long that if a woman taking birth control becomes pregnant, then she must have done something wrong," says Aaron Lazorwitz, gynecologist and lead author of the study. . "Instead, perhaps we need to pay more attention to the doctors to other problems, such as genetics, in order to be able to offer a better individualized treatment to women instead of". blindly adhere to the motto of giving hormones. this usually solves the problem.
This is the first time that we have identified unique DNA fragments associated with birth control performance. When Lazorwitz presented his preliminary findings to the North American Family Planning Forum last October, although this is a last minute addition scheduled at 7:30 am, he met a room filled with doctors and researchers eager to see his results. "It was the only thing I've ever seen," says Megan Christofield, a family planning counselor at Jhpiego, a Johns Hopkins-affiliated global health NGO, who was on the public list that day. "There was so much energy in the room, everyone was like," Yes! Bring us to this place in science!
This place is precision medicine – using a person's unique genetics to understand which medications work best for them. Cancer and heart patients, for example, are performing more and more DNA tests to determine which treatment will have maximum efficacy and minimal side effects. But the promise of precision medicine still has to extend to women's reproductive health. The US Food and Drug Administration (US Food and Drug Administration) has 232 drugs that contain a known genetic factor that influences how they work. There is only one contraceptive. And the identified genetic marker has nothing to do with the active hormonal ingredients of the drug. Indeed, this means that scientists and doctors have no idea how women's bodies react to the same hormone or the two hormones that make up all birth control drugs.
Instead of genetic testing to determine which contraceptives would suit them best, women have murmured networks and trial and error. Sisters, friends, roommates and colleagues often make recommendations, but their experiences are not universal. It is therefore not surprising that most Americans have embarked on three different methods of birth control within 40 years.
In the United States, side effects such as headaches, depression and unpredictable bleeding may be a disadvantage for women. But in developing countries, where Christofield works, these side effects can have catastrophic effects on women's ability to attend school, work or even leave home. And this is often the reason why women in the country completely stop using contraceptives. Even side effect rumors sometimes prevent women from having access to hormonal birth control, although it is not certain they will have the same negative reaction.
"To me, it is reprehensible that once again, women's health is only an afterthought, even as other areas are moving forward with precision medicine," says Christofield. "This is the only category of medicine used by hundreds of millions of people, and I can not support the idea that we continue to put it on the back burner, saying that we will come back to it once we understand it. other spaces. "
Lazorwitz is one of the few people who wants to change that. He has spent most of his career studying the interaction of contraceptives with other drugs, but a few years ago he began to notice the rise of pharmacogenomics research on cancer and heart medications. . He looked around and could not find anything about birth control, despite the fact that nearly half of US women of childbearing age use it. "We give each woman the same hormones, but do they work the same way for every woman?" He wondered. Nobody had ever bothered to know it.
So with a few colleagues, he put together a small study of 350 women who all took the most reliable form of hormonal contraception – an implant under the skin – and tested them to determine whether 120 genetic variations could play a role in metabolism. hormone. They also measured the concentration of hormones in their blood. That's how they found a gene called CYP3A7 * 1C, which is usually active in the fetus and then dies out some time before birth. But women with this mutation continue to produce the CYP3A7 enzyme in adulthood, strengthening their body's ability to degrade the active ingredient in hormonal birth control.
Lazorwitz acknowledges that their study was limited to the sole search for gene-drug interactions that other people had previously sought. He adds that the next step is to repeat the experiment with a much larger cohort and with complete genome sequencing, in order to be able to reveal new genetic variants likely to affect the genome. effectiveness of birth control. He also wants to study the links between DNA and side effects. But such studies are expensive and time consuming. They are not a priority for federal biomedical institutions and pharmaceutical companies have no financial incentive to invest in them. Hormonal contraceptives can be a blunt instrument, but they work – and they hit companies that bring in billions of dollars each year.
"Am I grateful for the pill?" Asks Piraye Beim, CEO of Celmatix, a company focused on reproductive health. "Yes, absolutely, do I deserve something better?" Yes, Celmatix is perhaps the only company in the world to create a gigantic data engine specifically for precision reproduction medicine.
Modeled after the National Institutes of Health's cancer genome atlas, Beim has been building a private version for women's health for 10 years. With 850 terabytes of data – a mix of exclusive genetic studies involving 7,000 women, fertility treatment results for 500,000 patients, and data from public studies, including those from Lazorwitz – Beim, hopes to eliminate uncertainties. "We have the game notebook of oncology; we know how to decode these different genetic responses, and then set up DNA tests to help people make informed decisions, "says Beim. "But he's still very, very early."
The company currently operates its database to study various issues related to women's health. Last August, Celmatix partnered with Ferring Pharmaceuticals, a Swiss manufacturer of fertility drugs used in in vitro fertilization, to study how a woman's DNA dictates the response of her patient. body to this treatment. The hope is to identify the genetic risks for some IVF-related adverse effects, such as ovarian hyperstimulation syndrome, which, although rare, can be fatal. Celmatix also hopes to discover new drug targets for diseases such as endometriosis and polycystic ovarian syndrome and possibly identify next-generation contraceptives. This latest project is just starting, with funding from the Bill & Melinda Gates Foundation; The long-term goal is to create brand new types of contraception that are not just rephrasions of the same old hormones.
"Hormones are a very powerful tool, but they are the biggest hammers you can use," says Beim. New molecules could target only ovarian cells, for example, instead of all the cells of the woman's body. And one day, it could mean that women will have real choices in birth control, not just the illusion of choice. Let's hope it will not take another 60 years to get there.
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