You’re the Carrier of a Genetic Disorder: Where to Start

by | May 25, 2018
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You’ve just found out that you and/or your partner are the carrier of a genetic disorder, meaning that you carry the gene for a genetic condition that you risk passing on to your future child.

You may feel confused, overwhelmed and anxious. There is a lot of information to take in and many options to consider. What can you do to optimize your chance of having a healthy pregnancy and a baby unaffected by this genetic condition?

In-vitro fertilization paired with preimplantation genetic testing (PGT) is one option for you to conceive a child unaffected by this genetic mutation. It’s also important to equip yourself with the knowledge necessary to make informed decisions, which includes taking actionable steps like the ones listed below.

Learn About Your Family’s History

If you’re the carrier of a genetic disorder, you’ll want to document the genetic mutation you have, says Emily Mounts, MS, CGC, a clinical genetic counselor and Director of Genomic Services at Oregon Reproductive Medicine.

Often, a clinical diagnosis is enough for your own medical treatment, but for reproductive medicine, you’ll need to know exactly what genetic mutation is in your DNA. A unique genetic test for embryos conceived via IVF is developed for each couple as part of the preimplantantion genetic testing process, so this information is key.

Sometimes, DNA samples from other family members, like your parents, siblings or even cousins, can be useful, Mounts continues. “It can be really helpful to clarify who in the family has had genetic testing, because our testing can be simplified if we already know where the mutation is.”

Documenting the structure of your family tree to see who has the condition and how it has been inherited can also be helpful. If you don’t have this information or can’t get it from family members, don’t worry. Reproductive medicine clinics can work around that, Mounts says.

Find the Right Healthcare Provider(s)

If you want to use assisted reproductive medicine to help conceive a child without passing on the disorder, who do you see? A reproductive medicine specialist — one who has completed a residency in obstetrics and gynecology, along with a fellowship in reproductive medicine — is your best bet, explains Mounts.

When evaluating a reproductive medicine clinic, Mounts believes that it’s important to look for a few specific things: “Good IVF success rates, personalized care, and really good communication are paramount,” she says. “[PGT] is a multi-step process that can be complex. You’ll want to make sure you feel comfortable with the team you’re working with and that you have good communication and support from them.” IVF success rates are a key marker of clinic quality, and all clinics must publish them publicly, Mounts adds.

Some fertility clinics have a genetic counselor on staff, which is ideal, she says. But, many don’t, which is also okay. “You may be able to see one at a prenatal clinic, instead.”

Even if you’re not planning to conceive a child right away, checking in with a reproductive medicine specialist can be a proactive step, Mounts says. “Learning about your own fertility could lead you to different decisions,” such as freezing your eggs now, for example.

Learn About IVF and PGT

The process of conceiving a child unaffected by the genetic mutation you carry utilizes both IVF and PGT. Both processes involve many steps and can be complex, so reading up on what’s involved is a good idea, suggests Mounts. “There’s so much to learn about how it works: the medication, testing, steps, and procedures,” she says.

A healthy pregnancy is a great outcome for these processes, but it is a little more involved than the “old-fashioned” way of getting pregnant.

Get Support for Your Journey

Don’t forget another important aspect of the process — finding others who are going through similar journeys. Connecting with other couples who have gone through PGT is a great way to learn more about what’s involved. You may also want to read stories online about people who have been through the PGT experience, or find a support group.

You don’t have to do all these tasks right away. But taking action to learn more and understand the process can be a great first step on your journey.

Lauren Arcuri is a freelance writer in northern Vermont. She writes about science, health, and medicine, including genomics, neuroscience, and rare diseases. She has written for Pacific Standard, Proto, Genome, Yoga Journal, and many other publications.

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