There’s no shortage of books out there to help a woman know what to expect when she’s expecting, but when it comes to knowing how medications she might need during her pregnancy will affect her, there is very little guidance.

A woman’s body goes through profound physiological changes during pregnancy that have potential ramifications for the efficacy of a variety of drugs.  But despite a 1994 recommendation by the Institute of Medicine, most clinical trials still do not include pregnant women.  This means that for most drugs, doctors faced with a pregnant patient who needs a prescription have no choice but to guess the right thing to do.

“Any medicine taken to treat a woman’s illness during pregnancy – from hypertension to cancer, thromboembolism to asthma – is used without data adequate to guide dosing, make decisions about safety, or inform differential decisions about which medicine to prescribe.  The cost of this ignorance is profound,” Dr. Anne Lyerly and colleagues write in a recent article in the American Journal of Public Health.

The best strategy would be a large systematic study of women already taking medications during their pregnancies, so that there would be no extra risk for the unborn children.  According to Lyerly et al., just such an opportunity has presented itself in the form of the National Children’s Study (NCS).

The NCS aims to study the effects of the environment on 100,000 children from before birth to age 21. Researchers hope to enroll 25% of the children before they are conceived, with 90% of the total being enrolled by the end of the first trimester. Lyerly et al. argue that this important study of children’s health also offers an unprecedented opportunity to collect information about the mothers too. But action must be taken soon to make sure that researchers don’t miss out on the chance to collect a wealth of information. Recruitment for the pilot phase of the study has already begun, and the final study protocol will be finalized in May 2010.

“Although the NCS will provide important and much-needed information about the effects of maternal medication use on the health of the fetus, absent is the other side of the coin: whether the medication is safe for the woman herself, whether it is effective in treating her underlying or emergent illness, and whether decisions to forgo medication or substitute older medications compromise her health,” the authors write.

Every additional piece of information collected will add to the already $3.2 billion projected cost of the NCS, but Lyerly et al. advocate for the inclusion of at least two additional research components:

• Add questions to the surveys and medical chart evaluations already planned during the pregnancies of the women involved.
• Take advantage of the maternal blood tests already planned to identify medications that are metabolized differently in pregnant women.  These drugs could then be investigated in more depth in follow-up studies.

“These two efforts together—at very little additional cost—would result in a rich data set that could lead to critical improvement in the care of pregnant women. Failure to include them would be hard to justify.”

The 23andMe Pregnancy Community

Through our pregnancy community, 23andMe is already taking steps much like those Lyerly et al. recommend to safely and non-invasively study the health of pregnant women.

In close collaboration with experts in the field, our scientists have developed several surveys that we hope will help push science forward when it comes to mommies-to-be.  In our 40-week survey for currently pregnant women, we’re exploring the effects of medications used for nausea and insomnia.  For women who have been pregnant in the past, we have surveys that ask questions about the overall experience of pregnancy, the outcome and gestational diabetes.

These surveys are only the beginning. Women who choose to upgrade their accounts by having their DNA genotyped on our custom SNP chip are able to learn even more about themselves.  Their genes can provide information about their risk for pregnancy-related conditions like endometriosis, gestational diabetes, placental abruption, preeclampsia and intrahepatic cholestasis of pregnancy. Couples who are planning on conceiving can learn whether they carry variants that increase their child’s risk for serious diseases like sickle cell anemia, cystic fibrosis or Tay-Sachs disease.

Getting genotyped doesn’t just return benefits to the individual woman.  Her genetic data can be combined with the information she provides about her experiences and used for research focused on understanding the genetic aspects of various conditions of pregnancy.

Our web-based platform makes gathering data quick, simple and cost-efficient relative to traditional studies like the NCS.  And as more is learned, we’ll be able to go back to the women participating in the community again and again to ask questions about conditions, medications and even the development of their children.

While our Pregnancy Community is not a substitute for a large national study, we are excited about pushing forward the boundaries of research on pregnancy with a method that is safe and non-invasive. We encourage any woman who is interested in participating to learn more on our Pregnancy Community homepage.

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For many women, finding out they’re pregnant is the kick in the pants they need to quit smoking.  But for some, a genetic variation may stand in their way.

The SNP rs1051730 is located in a cluster of genes on chromosome 15 that are involved in regulating the brain’s response to nicotine. Studies have already shown that the SNP is associated with nicotine addiction. Now a new report, published online last week in the journal Human Molecular Genetics, suggests that the effect of this variation is strong enough to overcome the maternal instinct and social pressure to protect one’s unborn child from the harmful effects of cigarette smoke.

British researchers studied 2,474 women who smoked regularly before becoming pregnant.  When questioned about smoking during their first trimester, 31% of the women with two Gs at rs1051730 had kicked the habit, compared to only 21% of the women with two As.  During the third trimester, 47% of women with two Gs were smoke-free, while only 34% of women with two As were.

Overall, after adjusting for pre-pregnancy smoking quantity, the researchers calculated that each A at rs1051730 increases a woman’s odds of continuing to smoke throughout her pregnancy by about 1.2 times.

The authors say their results show how genes can influence what is perceived by many to be a matter of self-control, but that “it’s in my genes” shouldn’t used as an excuse to avoid giving up smoking during pregnancy.

23andMe customers can check their data for rs1051730 using the Browse Raw Data feature.  This SNP is also featured in the Nicotine Dependence Research Report.  For more information, check out the following Spittoon posts related to this SNP:

• SNPwatch: Genetic Variation Linked to Smoking and Lung Cancer Might Also Raise Risk for COPD
• How A Person Smokes Might Affect Lung Cancer Risk
• SNPwatch: Two Vices, One SNP — Drinking and Smoking Behavior Both Linked to Nicotine Receptor Genes
• SNPwatch: Focusing on a Gene Variant that Might Help Counter Cigarette Cravings
• SNPwatch: “Environment” also genetic?

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Every year, 130 million babies are born around the world. Yet little is known about why some women sail through their pregnancies, while others encounter issues such as infertility, miscarriage, pre-term labor, preeclampsia and gestational diabetes. Giving birth, whether in medically-advanced countries or in the developing world, is shrouded in mystery when it comes to predicting these conditions, and women have to face pregnancy with a “wait and see” approach to whether it will go well, or not. Modern medicine has certainly improved survival rates during childbirth, but research into identifying why some moms — and which ones — will go on to develop certain complications has been underserved.

We believe mothers like us, and soon-to-be-moms, would prefer to carry out their pregnancies armed with as much knowledge as possible, for the sake of themselves and their families. This is why we’re so excited to be announcing the launch of our newest community. The 23andMe Pregnancy Community is dedicated to bringing women together to help us shine a bright light on the whole birthing process, from conception to delivery and beyond.

By participating in this new endeavor, women will be invited to share their pregnancy experiences, both past and current, through online surveys we’ve developed with obstetrics experts. The Weekly Survey, for example, tracks a pregnancy throughout its course and gives each participant immediate feedback compared to others who are at the same gestational time point. Whether you’d like to know how your weight gain compares to a supportive group of women in the 36th week or if you’d like to see who else opted for a nuchal scan ultrasound at 11 to 13 weeks, you’ll soon feel a kinship with others in a whole new way.

In addition to surveys, our pregnancy community has a forum for posting questions, concerns and humorous anecdotes. If you’ve ever been in a conversation with a clutch of moms, there’s no end to the stories and reflections each and every one of them wants to share about her pregnancy. And, of course, we all think our own stories are the most interesting! (Linda has a great tennis ball story! ☺)

Another new thing about this 23andMe community is that spitting is optional! Up until now, participation in the 23andMe communities required you to enroll in our Personal Genome Service™ (meaning payment of $399 and a saliva sample). While we encourage participation at this level, we want our pregnancy community to be available to everyone who would like to join. The more women who are online sharing their experiences, the more we’ll learn together.

As our community grows, the 23andMe research platform is primed and ready to start analyzing the potential genetic underpinnings of pregnancy complications. If not for ourselves, we hope our daughters can enjoy healthier pregnancies because we’ve chosen to share the stories of our own.

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