Genetic Testing + Family Planning: Why I Did It

This post is sponsored by Invitae

The absolute coolest thing about my blog is that it’s brought together a community of women all over the country and even world who are here supporting each other. I can’t even begin to tell you how proud I am of that! It’s something I’ve dreamt about creating for so long and now that it’s here in the form of this blog I just feel so grateful. And I’m equally as grateful that companies see and recognize this. Invitae, which I will tell you all about with this blog post, reached out to me recently and told me about their at-home genetic carrier screening tests. and ask me to share them with you guys. And I basically shouted…YES!!!!!

invitae family planning

Invitae Genetic Carrier Testing

I immediately told them that I had genetic carrier screening done when I was pregnant with Molly and I was so glad I did! So knowing that it’s something that I had done before, they asked if I would help spread the message of what they’re trying to do and I agreed without hesitation. Having a family has been the greatest joy and gift of my life and I know family planning can be an amazing time in someone’s life but also a confusing and stressful time as well. So I wanted to share with you guys my experience and tell you about how you can do the tests at home as well.

And no, I am not pregnant. Ha! Just squashing that rumor right now. However, baby number three is definitely not completely off the table for our family. So that being said, and the fact that I feel so strongly about the importance of genetic testing is why I want to share all the info I can about Invitae with you. No matter if you are in the early stages of family planning, or already pregnant, Invitae provides you the tools and knowledge to take control and action with your life and family. Carrier screening is a way to find out if you have a gene variant that could potentially be inherited by your baby and cause a genetic condition. Most of us are carriers for at least one genetic condition that could be passed down to your kids, and by gaining insight from genetic testing, you are able to plan ahead, get any necessary follow-up testing or care for your future baby (if needed), and make decisions that are best for your family.

genetic test invitae

It Provides You with Knowledge About Yourself and Your Future Babies

When we did genetic testing while I was pregnant with Molly, both Kevin and I did the test. That’s because most of the time a genetic variant has to be passed down by both parents to cause the types of genetic diseases that a carrier screen tests for. Even though I was already pregnant, by doing testing I was gaining invaluable information about conditions we could have passed down to Molly. For families that do find variants, this allows time during pregnancy to do any additional testing needed for their baby and make considerations about the birth, such as having a specialist on hand for a certain condition.

invitae test

Many people think of genetic testing as something that can only be done in a hospital, and also highly expensive. And the truth is, in the past, it was! But Invitae has allowed families the choice to learn about their future health risk and open the conversation during their planning. Invitae’s testing doesn’t just look at variants that could affect future children, but you can also take a proactive screen that will help you understand if you are at an increased risk of developing a disease in the future. Invitae also offers genetic counselor support for guidance on any actionable insights. This includes information that you can bring to your physician to integrate with your current medical care. They also can provide guidance on any specialists you may want to see..

I cannot emphasize enough how important I think genetic carrier testing is, not only for you, but for your future children. For those of you that might be still in the planning stages, the genetic testing offers you information to take any necessary steps for your family planning. It screens for 288 genetic disorders, and the information can easily be sent over to your physician through the online portal. By having all the information, you are allowing yourself choices during your reproductive and pregnancy journey, like knowing which disorders to check for during prenatal testing or deciding to utilize other options such as IVF or egg or sperm donation.

invitae genetic test

Do It On Your Own Time

One of the best parts about this is the fact that you can do it on your own time. You initiate an order for the medical-quality genetic test online fromInvitae, it’s reviewed and approved by a clinician partner, and then it is shipped right to your home. Life can be hectic, and this puts the information and knowledge in your own hands, without the need to make an appointment or spend time in a doctor’s office for testing. As the patient, we can initiate the testing and care on our own, which I think is truly special. My test showed up at my door, and all I had to do was spit into a tube and place it back into the pre-labeled package they provided and sent it right back. It couldn’t have been easier – and to think it’s something that I spent so much time doing at the doctor’s in the past, I am so grateful for these medical advancements and Invitae. Oh, and not only is it easily accessible, but Invitae has made genetic testing affordable. They also take HSA and FSA! How great is that?! It is so accessible and affordable.

mail in health genetic testing

Comparing it to the testing that I did with Molly, I can tell you that it  saved me time by being able to take the test at home rather than going to the doctor’s office to get the genetic test done.Not only that, but carrier screening can be done before you go into your OB 8-week appointment (or when you’re even just thinking of getting pregnant) with results all ready. Speaking about the results experience, I want to share mine with you.

My Results + Experience

Like I said, baby #3 isn’t completely off the table, and I also wanted to compare the results that I had gotten before with Invitae, knowing they test for almost 300 genes. Once I got my results back, I set up an appointment with one of their genetic experts to not only explain the results, but also work with them on a plan for how to move forward with care for myself. It was easy to schedule online and the appointment took place over the phone (which is great for us busy moms). The genetic counselor was so knowledgeable and helped explain what my results meant, answer my questions, and did a great job of explaining what this means for any future children. I’ve decided to keep my results part of the process private, but don’t worry, I have nothing to be concerned about! Again, I TRULY believe that genetic testing is so important. Not only for family planning, but to have the knowledge about yourself as well. Knowledge is power. Invitae provides that for you, and so much more. I am so thankful that they reached out about partnering with me. I highly recommend Invitae and have been so impressed with my experience with them. Have you done a genetic carrier screening test before? Did it impact your family planning or assist with learning more about care for your body? I’d love to chat below!




21 Thoughts

21 thoughts on “Genetic Testing + Family Planning: Why I Did It

  1. Question…I was told to make sure I had life insurance in place before doing any of this type of testing. Do you know if that is true? Or is that only with the cancer screening??
    Thank you! Merry Christmas

    1. I would think having life insurance prior is accurate. If something comes back in the genetic screening that is chronic or serious, and you try to get life insurance down the road the rates will most likely be higher.

    2. Hello! I wouldn’t say that it’s a requirement to have life insurance prior. I can understand why that might have been recommended though. I work in the medical field, specifically doing the medical examinations for life insurance. The process to qualify for life insurance goes beyond a medical exam. They also obtain your medical records in order to determine if you can be insured. Should something be discovered in your genetic testing, it could affect your ability to get life insurance or possibly cause you to pay a higher monthly/yearly premium because of a genetic condition. Every insurance company is different so this could vary based on the company. I hope that helps!

    3. I think life insurance is important for everyone to have! But I feel that carrier screening is so important!!!! I wouldn’t put off going tot he doctor to get life insurance – ya know what I mean? But if you plan to get the life insurance anyway, I say get it first to cover your bases.

      1. Hi! If you’re just doing the family planning carrier screening test I feel like it would not affect life insurance. With family planning tests, you are testing for genetic conditions you might be a carrier for and which will only impact your future child if both you and your partner are carriers for the same thing. If you are just a carrier it doesn’t mean you actually have the condition.

    4. Yes – everyone should get life insurance first. That isn’t just for genetic screening, but any type of major testing. For example, my husband is a living kidney donor. Prior to beginning that screening, the hospital insisted on life insurance policies. Nothing would have been covered had something happened during the surgery, but if they had uncovered something during the screenings, he wouldn’t have been able to get life insurance later. Even basic genetic screening has the potential to uncover information that an insurance company can use to make you ineligible.

    5. Yes this would be accurate. Keep in mind, with cancer at least, there are only 10% of cancers diagnosed that we can prove to be hereditary. That means about 90% of our patients are negative or are just found to carry a Variant of Uncertain Significance (VUS). 60% of cancer are thought to be sporadic, which leaves about 30% that are thought to be Familial. Familial cancer is a grey area where we see a family history of cancer that meets criteria but we test someone with cancer and they are negative. In those cases its either a gene that we are not advanced enough to find yet, or the whole family was exposed to something together (sporadic). There are states like Florida that are trying to get the law GINA to cover life insurance as one protected by the genetic information nondiscrimination act, since most people who test are trying to lower their risk of having these disorders and lower the risk of having children with them as well, but not all states are doing this. The three policies not protected by GINA are life insurance (unless it is state protected like Florida is doing), disability insurance, and long term care insurance. Those are all three policies you should have in place before you test. Especially if there is a known mutation in your family! 🙂 hope I helped some! I do this for a living! 😉

  2. Thank you so much for spreading this awareness! I wish someone had before I had my first baby! When he was born we found out my husband and I were both carriers for cystic fibrosis and our son now had it because he got both genes from us sadly. When we had our second child we were so much more well prepared for it to happen then too and saved us a lot of heartache and wondering what if.

    1. Thank you for sharing your story. I agree I wish this info was more available to people before getting pregnant so they can prepare!!!! I’m hoping this blog helps spread that awareness!

  3. Thank you for sharing your experience. Ali, just wondering how you made out at the eye doctor. I guess I missed it! I haven’t seen you wearing your new glasses.

    1. My eye sight got 50% BETTER in 2 weeks!!!!! So bizarre right?! They think it could have been stress, hormones, or even my blood sugar.

  4. I would like to add, in addition to carrier screening, this information is also important for you as an individual even if you’re not in the process of expanding your family. For example, approximately 50% of the population has genetic mutations that prevent methylation (which is essential for detoxing). So people who cannot detox end up storing toxins in the body creating a lot of illness and disease. Because of this, they should be aware of what they are consuming through their diet, medications, and their environment. This is also true of other genetic markers. We are all carriers of a lot of things, but unfortunately when the right triggers are introduced and the ideal environment created, we can set ourselves up for a long road to recovery.

    I think everyone should undergo genetic testing, and it should be a routine thing done at the doctors office for personalized medicine.

    Something else to consider, many genetic services sell your genetic information and your genetic sample. Do you know what Invitae does with yours?

    1. I agree with your comment 100%. I wish I had known about MTHFR prior to becoming pregnant and allowing toxic substances to be introduced to my son. His life and our lives would be so much different had we known. This testing and subsequent research/knowledge can save your life.

  5. We adopted Maggie from Tales of the City Animal Rescue. I have really strong anxiety and thought having a dog would help so I did research to find a hypoallergenic, kid friendly dog and it led us to Maggie. Maggie had nine puppies and they were all adopted out except for her. When we adopted her, we were told that Owen is one of Maggie’s pups!

    1. I so wish I would have known about these things when my boys were born…or that I knew more about what was wrong with me back then. I am terrified that some of my rare diseases and chronic illnesses can be/have been passed to them already. Everytime they get a bad headache like I do I panic they have Chiari and will need brain surgery too. I wonder if this test tests for that and it would be an easy (way less scary) way to find out about them for sure???

  6. My husband and I did the screening through my OBGYN! Initially I only did the screening as it was pricey (though thankfully covered mostly by my insurance) but when we found out I was a carrier for a common disease we made sure to test my husband as well. We haven’t started trying for a family yet, but at least we have the reassurance there won’t be genetic issues!!

  7. Hello Ali! I just wanted you to know that you inspire me! I have a 1 and 3 year old and watching you succeed and also have rough days make me feel soo much more normal!! Thank you for being you, and sharing your adorable family wish us all! Merry Christmas!

  8. I highly recommend talking to a genetic counselor before screening. There are numerous factors to consider including pre-existing conditions and health insurance coverage, type of testing to be done and a very detailed family health history. Invitae did my testing but I worked through my primary care physician. My main concern was the BCRA gene.

  9. You were well enough to go out with your girlfriends so you better not play the sick card and sleep all day and make your poor husband pick up the slack for you AGAIN.

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