What to Expect From the Results of Your Carrier Screening Test
Posted on: 24 June 2019
If you're trying to conceive, it's a very good idea to consider a type of genetic screening called a preconception carrier test. Carrier screening tests the genes of you and your partner to see if you carry a mutation or variant which could cause your child to be born with a genetic disease such as Tay-Sachs disease or Cystic Fibrosis.
A few weeks or months after undergoing screening, you'll receive your results, but what should you expect when you get them? Here are some of the most common questions answered.
Can the results show you carry a disease your parents don't have?
One thing that shocks some couples who are trying to conceive is being told they've tested positive as a carrier for a disease they've never heard of before. While it may seem impossible to carry a disease your parents don't have, remember that one or both of your parents could be a carrier themselves. Older generations did not undergo genetic screening before conceiving, so most are unaware of their carrier status.
Are the results 100% reliable?
Unfortunately, no genetic test can ever offer 100% reliability—no matter how reputable your screening service is. This means there is a very slim chance that you may be a carrier for a disease your results say you don't have. However, carrier tests are highly accurate and clinical grade, so this is a very unlikely outcome.
Will the results be shared with anyone else?
Your results should never be shared with anyone else without your consent, including other healthcare professionals and insurance companies. To ensure you find a screening service you can trust with your private information, make sure they don't claim ownership of your results, readily provide or destroy data at your request and vow to keep your results confidential unless required to disclose them by law.
What if you struggle to deal with the results?
Many couples are put off of genetic carrier screening by the thought of a negative result. If you and your partner are trying to conceive, it can be scary to find out that you're both carriers of a disease. It's important to remember that it's very rare for couples to find out they're both carriers of the same disease, and even if both of you are carriers, your chances of having a child with the disease are still only 25%. However, 25% is not a negligible number, so you're not alone if you have trouble dealing with such a result. The best genetic screening services also offer personalised genetic counselling services after giving you your results. A compassionate counsellor can support you through the emotional, practical and cultural considerations of these results and help you make informed decisions about how to move forward.
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