Before You Are Pregnant…

My sister learned she was a carrier for a recessive disease, Bloom syndrome, late in one of her pregnancies. I remember the panicked call and the weeks of worry as she and her husband awaited his test results; if he was also a carrier, this meant their daughter had a one in four chance of being born with the disorder.

Thanks to my company, 23andMe, I was able to look at our Family Inheritance feature and see that my sister and I are genetically identical in the region of the BLM gene, making it quite certain that I was also a carrier for Bloom’s, which is an inherited disorder associated with various health problems and an increased risk of cancer. Several years later, this information was very helpful when I decided to have children. I retested and confirmed with my physician that I am a carrier for Bloom’s. My husband also got tested and learned that he is not a carrier for Bloom’s, but he is a carrier for Fanconi anemia. Typically in our health care system, I would have to go back and be tested again — another blood draw, a physician visit and weeks of worry. This time, because I had already been genotyped on over one million data points, I already had my data about Fanconi anemia, a genetic disease associated with certain physical abnormalities and increased risk for some kinds of cancer. It turned out I am not a carrier for Fanconi anemia according to 23andMe data, which reports on the three most common mutations. That was reconfirmed by my physician. 23andMe has given back information to customers on carrier status since 2008. At the end of 2011, we put out our 44th carrier status report. In 2012, we will be publishing many more. Genetic testing in pregnancy is usually ordered by a physician based on one’s ancestry — Eastern European Jewish (Ashkenazi), Italian, Greek, Middle Eastern, Southern Asian, or African descent. One of the advantages of having a single test that tests for many conditions is that you minimize the guesswork about what you will pass onto your children. We hear over and over again from customers who thought they knew their ancestry but then discovered something new in their DNA. 23andMe believes that by putting this in the hands of consumers, more and more individuals will get tested before getting pregnant. Knowing this information before you are pregnant, we believe, will make you better prepared when you are pregnant. My sister suffered because she learned something new in the middle of pregnancy and did not expect it. 23andMe wants to encourage getting the information before conceiving so people can go into pregnancy educated and decrease the number of surprises. Currently insurance companies, by and large, pay for targeted carrier status testing if it can be justified (i.e. if you have the right ancestry that puts you at increased risk for a rare condition) and if you are pregnant.

We believe that this timing is not optimal and the ancestry guesswork is often wrong. By putting the option in consumers’ hands, we believe more and more people will get this information when they are considering having children. By being tested for a large panel of recessive conditions regardless of ancestry, couples will have more comprehensive information and will ultimately be better informed. Here’s to healthy pregnancies.

  • Jaimee

    This is exactly why my husband and I signed up. Fortunately for both of us, we are not carriers of anything, but we’re still waiting for science to figure out what causes autism and autism spectrum disorders.

  • Awesome post, I think that carrier status reports are among the most important services that 23andMe offers and hope that your list grows exponentially.

  • Tom

    I am a part of the Sarcoma project that you and your company so graciously started. I would like to personally thank you and the company. I have no idea what the wonderful Dr.s and researches will discover, but I have discovered things about my health thru this project that I believe will be personally beneficial to me.

    One of the things that I asked myself and my Dr.s was How did I get this disease? and How do you survive? Which, also is what I believe most people would pose as well? I saw a thread that was on Vitamin D deficiency and Ms. I read about MS and learned that cancer was an autoimmune disease like MS. I then learned I have the low Vitamin D genes from this site. Then I learned low Vitamin D is thought to play a cause in Cancer. I have been taking a supplement with Vitamin D, since my cancer and have been very fortunate in that, so far It has not recurred. I also, have seen where some Dr.s believe the outcome or recurrence may be linked to low Vitamin D. I always, thought this seems weird to believe that the cancer genes where just lurking in my body waiting to strike. To me it makes much more sense to see it as an opportunistic situation, when your Vitamin D decreases to a certain level than that is when the cancer occurs. I wonder, if I had known about Vitamin D genes and low Vitamin D before I had my cancer, could it have been avoidable? I assure you now though, I plan to eliminate low Vitamin D as a possibility. I have confirmed thru a blood test that the genetics were right in low Vitamin D.

    I have also made some other personal discoveries due to the genetics, but they will be for another day and another story.

    I am studying CYP24A1 and CYP27, any help in this area would be appreciated.

    With sincere thanks,


  • Great post! I strongly feel that all women of child bearing age should have an affordable option for this type of screening. Since my 23andMe test unexpectedly showed that I am a carrier of cystic fibrosis, I successfully encouraged my sisters and/or my five nieces of child bearing age to be tested. This was a vital piece of information of which we would not have been aware if it weren’t for 23andMe. None of us would have thought to be screened for this particular carrier status, nor had any of our doctors suggested it, because there was no known family history of the disease whatsoever. I commend 23andMe for working to educate the public on this important subject and moving toward the eradication of these types of inherited diseases.