In a recent conversation with a friend who experienced fertility problems, she admitted that all she wanted from her doctor was a chance to get pregnant. When she finally decided to pursue in-vitro fertilization, she was offered genetic testing in the form of carrier screening. She declined, rationalizing that her family was healthy, and her husband’s family was equally healthy. She had no reason to suspect that she and her husband were carriers of spinal muscular atrophy, or SMA, the leading genetic cause of infant death. Nearly 1 in 50 individuals is a healthy carrier of the disease that ultimately took her baby’s life. In March, the American College of Obstetricians & Gynecologists issued a statement that all women considering pregnancy or already pregnant, irrespective of ethnic background, should be offered carrier screening for SMA.
[See: 5 Rare Diseases You’ve Never Heard of Until Now.]
Carrier screening is a blood test typically offered by your obstetrician before or early in pregnancy. It historically may have included testing for conditions like cystic fibrosis, sickle cell disease and a handful of ethnic-specific diseases, such as Tay-Sachs. These diseases are all recessively inherited, meaning that both you and your partner must carry a mutation in the disease gene in order to be considered “high-risk.” A high-risk couple has a 1 in 4 chance of conceiving a child affected with symptoms of the disease for which both parents are unknowing carriers. ACOG recently acknowledged that ethnic-specific carrier screening has limitations, especially in light of increasing intermarriage rates. As such, the new guidance suggests that “expanded” carrier screening is a strategy that makes good sense. Expanded screening offers all women of reproductive age testing for the same panel of recessive genetic diseases — upwards of 100 or more, including SMA — ideally prior to conception. If a woman is found to be a carrier, her partner is then offered carrier screening as well.
When you are offered carrier screening, you may have the same initial reaction as my friend did: “Do I really need it? I’m healthy, and there’s nothing like this in our families.” Ultimately, the answer to that question depends on what you think you would do with the information. Symptoms of certain diseases on an expanded panel can be entirely reversed with early intervention, like dietary modification. On the other hand, some diseases on expanded panels have no treatments. For the latter set of conditions, at-risk couples may opt to pursue alternative routes of starting a family, such as IVF with PGD (pre-implantation diagnosis) to ensure healthy embryos, egg or sperm donation to reduce heritable risks, prenatal testing after conception to determine whether to continue a pregnancy or adoption. It may seem like a lot to take in, and indeed, it is. As with any great stride in medicine, the prospects are both daunting and empowering.
[See: 9 Things You Didn’t Know About Sickle Cell Disease.]
Fortunately, the recent guideline updates take this into account. When it comes to genetic testing, no one should have to make decisions without support, and that’s why ACOG recommends counseling in conjunction with testing. If you have trouble deciding whether expanded carrier screening or other prenatal genetic testing is right for you, a genetic counselor can help inform your decision. Most obstetricians and genetic testing labs should be able to connect you with a counselor. But if, for any reason, you aren’t offered access to one, the National Society of Genetic Counselors has a useful nationwide directory.
Every parent desires a healthy baby, and carrier screening gives us a glimpse of this possibility even before conception. In her book “The Gene Machine,” journalist Bonnie Rochman writes, “We live in an era that champions prevention. We exercise and fill our plates with veggies because it’s good for us … Similarly, when it comes to future generations, isn’t it more efficient to detect and prevent disease than cope with the aftereffects, to deal with potential problems on the front end rather than the back end?” The answer is of course different for each family, but the first step is to simply know that these options exist. There is no right or wrong choice when it comes to such tests.
[See: Do’s and Don’ts of Home Medical Devices.]
So, when you’re ready to start a family and hopefully taking your folic acid, have a conversation with your doctor about the new guidance on genetic testing.
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Your Doctor Just Got New Guidance on Genetic Testing: What Women Need to Know originally appeared on usnews.com
