The ultimate guide to genetic testing before pregnancy: actionable advice for couples

The ultimate guide to genetic testing before pregnancy: actionable advice for couples
Say you’re thinking of having kids. Maybe you’re feeling excited yet unsettled by not knowing what to expect. What if you could find out about your future child’s potential health risks and do something about that ahead of time? Here’s what you need to know about what genetic testing can tell you and how you can turn those insights into action.
Written by Christina Ren, Certified Genetic Counselor

Orchid offers advanced genetic testing for couples who want their child to have the best shot of a healthy life. “Genetics for Humans” is where we unpack how genetics impacts our everyday lives and the latest tools to help you build a healthier family.

Chapters

  1. What preconception genetic testing can reveal
  2. How to evaluate what type of genetic test is best for you
  3. Ways to take action based on your results

Chapter 1: What preconception genetic testing can reveal

Carrier Screening: Rule out the chance of passing on a genetic disorder caused by a single gene (like cystic fibrosis)

When most people think of preconception genetic testing, people think of screening for a specific disorder. This is called carrier screening. It helps answer questions like, “will my baby have cystic fibrosis?”

Now you might not think this is necessary because you don’t have a genetic disorder, but the odd thing about genetics is that sometimes you can “carry” a gene that doesn’t work properly but not have the disorder. 

This is because for some genetic disorders, it takes two non-functioning gene copies for a person to have the disorder. People that only have one non-functioning gene are carriers and usually don’t have any symptoms.  

Carrier screening allows you and your partner to see if you both carry the same gene for the same genetic disorder.

One gene → one disorder

All women are offered carrier screening for cystic fibrosis and spinal muscular atrophy (SMA). But there are even rarer genetic disorders too. These are disorders you’ve likely never even heard of that collectively affect about 1% of the population. You can screen for these rare disorders through either targeted or expanded carrier screening: 

  • Targeted screening looks at specific disorders based on your ancestry or family history. Some populations such as those with Ashkenazi Jewish descent are more frequently carriers for disorders like cystic fibrosis, gaucher, and tay sachs. 
  • Expanded screening casts a wider net looking at over 200 single gene disorders.

Advanced Preconception Testing: See how your genetics can influence your future child’s genetic predisposition to the 10 most common chronic conditions (like heart disease)

Carrier screening is not the only kind of preconception testing that’s available now. Advancements in DNA testing and biology allow us to go beyond testing for rare genetic disorders. 

For the first time, advanced genetic testing, like what we do here at Orchid, can now accurately measure genetic risk for the most common chronic diseases. We’re talking things like heart disease, diabetes, cancer, and Alzheimer’s — diseases that we all likely know of someone whose health has been significantly impacted by.

While identifying single gene mutations work for a small handful of genetic disorders, the reality of the genetic basis for the vast majority of diseases isn’t so simple. Instead of finding a needle in the haystack, advanced genetic testing assesses the whole landscape — looking at many genes and genetic markers across the entire genome for each common condition.       

Many genes → risk for developing a condition

We can extend this further by not only being able to provide results for you and your partner, but also for your future children. Even before you’re pregnant. Orchid does this by using sophisticated statistical modeling to forecast how your combined genetic background can influence your future child’s genetic predispositions for these conditions in our Couple Report.

Chapter 2: How to evaluate what type of genetic test is best for you

Let’s be honest: bringing a child into this world is hard — it’s entirely normal to have mixed feelings about such a life-altering event. While having kids is something usually thought to be a happy event (you’ll get a lot of elated squeals and congratulations from your friends), it’s also scary because it feels like there’s so much that you don’t have control over. 

When it comes to your child’s health, there's a lot to think about. Forecasting the future through genetic testing can be an emotional process that opens a lot of doors. Here are some pointers to help you decide which preconception genetic testing approach is best for you. 

(spoiler: there is no universal “right” answer, but you can use what I say as a framework to help you make your best decision.)

How much information do you want to know, really?

If you’re using advanced genetic testing, you’re going to learn a lot of information about you and your future child’s health. 

The key difference between “old school” genetic testing and ours is that with Orchid, you’re much more likely to get meaningful information that can impact you and your future children down the road. Data from large scale studies suggest that about 20% of the general population are three times more likely to develop at least one of the common conditions tested.

So it’s much more likely to have a meaningful result with Orchid than with traditional carrier screening. With carrier screening, most of the time you learn nothing. While almost all of us are carriers of something, it’s rare for couples to be carriers of the same condition. To give you an example, cystic fibrosis is one of the most common single gene disorders. And even for the most “common” genetic disorders, the chance of a couple both being carriers is 1 in 625 or 0.16%. (And even if a couple are both carriers, there is a 25% chance of actually having a child with cystic fibrosis, which occurs in 0.04% of the general population). 

Am I saying you should blow off carrier screening? No, definitely not. It can still yield very important information. These genetic disorders are often serious childhood-onset diseases that can impact families in very real ways. Just know that for the vast majority of couples, the most likely outcome from carrier screening is that there is nothing you need to do differently before pregnancy.

By contrast, every single Orchid test reveals something about you and your future child's health.  

Not everybody wants that much information. And that’s perfectly okay. But some people want to be more informed about their future child’s health risks. They would prefer not to go into this already emotionally fraught process blind. 

If you do go with advanced preconception genetic screening, interpreting these results in a meaningful way will go better if you understand the nature of genetic risk for common conditions. Orchid helps alert you ahead of time if there is a concern and if so, the chance of developing a certain condition. 

Once you get your results, you can act on the information you learn from our test. If your future child may have an increased genetic predisposition to a condition, there are ways you can potentially mitigate these risks. (We talk more about this in Chapter 3).

Assess your personal and family history

Let’s say that one of your relatives got cancer. Does that mean you have a familial genetic cancer curse? Not necessarily. Some things are familial and some are “one-off” events. 

With advanced genetic testing at Orchid, you can get a sense of what genetic predispositions you can pass on and remove some of the guesswork. Conditions Orchid offers testing for include:

  • Breast Cancer
  • Prostate Cancer
  • Heart Disease
  • Atrial Fibrillation
  • Stroke
  • Type 2 Diabetes 
  • Type 1 Diabetes 
  • Inflammatory Bowel Disease 
  • Schizophrenia 
  • Alzheimer’s 

You might still be wondering, “So does the condition that runs in my family have a genetic cause?” There are many layers to this question. At its core, most conditions have some genetic component to it — some diseases have a stronger genetic component than others. Based on our current understanding of genetics, sometimes this can be measured, and sometimes it cannot. Advanced genetic testing is one way of trying to see if this genetic component can be quantified. 

In addition, sometimes strong patterns in your family history can warrant seeking out targeted preconception genetic testing. Examples of such indications include: 

  • known single gene disorders or chromosome issues in the family
  • recurrent pregnancy losses (three or more miscarriages)
  • early childhood deaths
  • significant developmental or intellectual delay

We want to help you get to the bottom of your family's condition. In your genetic counseling consultation, we may be able to recommend additional testing to determine if there is a genetic cause to your specific family history concerns.

Chapter 3: Ways to take action based on your results

Embryo screening to reduce your child’s potential genetic risks

Embryo screening allows you to quantify each embryo’s genetic risks for common conditions and prioritize the transfer of embryos with the lowest genetic risk. This allows you to potentially reduce your child’s genetic risks. 

Learn more about how this is done at Orchid and potential benefits of embryo screening for your family in our guide here.

Prenatal or preconception diagnostic testing for single-gene disorders

If you are identified to be at risk for having a child with a single gene disorder, you can consider: 

  • Testing your embryos created through in vitro fertilization (IVF) for this specific gene and preferentially transferring the embryos that are not affected. This type of test is commonly referred to at preimplantation genetic testing for monogenic disorders or PGT-M. 
  • Electing to do prenatal diagnostic testing during pregnancy by collecting amniotic fluid to test the baby’s DNA. The procedure needed is called amniocentesis and is done after 16 weeks of pregnancy.

Increased awareness, screening, and lifestyle modifications

Knowing if you or your child has an increased genetic predisposition to certain conditions can encourage your family to be more proactive about your health, including taking preventative screening measures and developing healthy diet and exercise habits. 

What these changes might look like depends on your results and what conditions you should keep a closer eye on. As an example, increased cancer predisposition can mean staying on top of regular screening and physical exams. Increased risk of developing type 2 diabetes can mean regulating blood sugar levels and watching out for those sugar spikes and crashes. 

Orchid offers advanced genetic testing for couples planning on building their family. We use advanced tools and smart, caring humans to help you give your future children the best shot of a healthy life. Conceive with greater confidence and peace of mind

11/20/2020
Genetics
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