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If you and your partner are looking to start a family or add to your existing one, the Canavan Foundation strongly recommends preconception carrier screening that will provide you with critical information to help build a healthy family.

Understanding what genetic screening is can empower you to make informed decisions about your family’s health and future. We at the Canavan Foundation have spent years researching and supporting families affected by genetic disorders. Our goal is to help you feel prepared when you approach your doctor to discuss genetic testing, particularly if you’re planning to start or grow your family.

What Genetic Screening Involves

Genetic screening, sometimes referred to as genetic carrier screening, analyzes your DNA to identify your potential for passing inherited conditions to your offspring. Medical professionals use these tests to detect whether you or your partner might carry genes linked to certain diseases, including Canavan disease. According to the Centers for Disease Control and Prevention (CDC), genetic screening can help predict your likelihood of developing or passing on specific genetic conditions.

When people talk about genetic screening pregnancy for prospective parents, they often refer to prenatal tests that assess the health of a fetus. However, screening can also occur before conception, providing valuable insights into any risk factors you or your partner may carry before a child is conceived. This approach – which the Canavan Foundation and many other experts recommend - helps detect whether you both are carriers of a genetic disorder and have a chance of passing it on to your child while you still have the broadest options for building a healthy family.

Why Consider Genetic Screening

You      should inform yourself about the pros and cons of genetic screening before speaking with your doctor. There are genetic conditions, such as Canavan Disease and Tay Sachs,that can be fatal to a child, and others that have serious, lifelong impacts. On the positive side, genetic carrier screening, especially before pregnancy, can:

?      Identify potential risks early.

?      Help you understand more about any condition for which you might be a carrier, and how it could affect a child.

?      Give you time to work with a genetic counselor if you and your partner are carriers of the same condition.

Discussing these factors with your doctor ensures you get balanced advice tailored to your situation. At the Canavan Foundation, we recommend that all individuals planning to start or add to their family get screened, preferably before pregnancy.      

Canavan Disease: A Case in Point

The Canavan Foundation regularly stresses the importance of being informed about the conditions you test for, includingCanavan disease. This rare genetic disorder is autosomal recessive, meaning both parents must be carriers for their child to be at risk. Without testing, many couples remain unaware they each carry the mutation. You can be a carrier and not know it. By undergoing genetic carrier screening, you can clarify whether you are a carrier of the gene that causes Canavan disease or another genetic disorder.

How to Prepare for the Conversation

Your doctor is your primary ally in genetic testing decisions. To make the most out of your appointment, consider these steps:

1. Gather Family Health History: Research any known genetic issues in your family. Whether or not there are genetic conditions in your family, the American College of Obstetricians and Gynecologists (ACOG) recommends preconception genetic carrier screening for all couples planning a pregnancy.      
2. Understand Your Insurance Coverage: Many insurance providers cover certain types of genetic screening, but coverage can vary. Contact your insurance company to avoid unexpected bills down the road, or work with your provider’s office to check coverage.    

3. Think About the Impact: Reflect on how the results — positive or negative — could influence future decisions. This might include changes in family planning, lifestyle, or emotional preparation.

Questions to Ask Your Doctor

When you meet your doctor, having a prepared list of questions can streamline your conversation. Consider the following:

1. “Am I a candidate for genetic testing?”: Your medical history, family background, and personal preferences will help determine whether you should undergo genetic screening. However, it is recommended that everyone planning to start a family should get screened, if possible.
2. I was screened before: do I need to be screened again?
3. “What conditions will you be testing for?”: Not all tests screen for the same conditions. If you have concerns about specific disorders, like Canavan disease, mention them. With advances in screening technology and recommendations, many providers are able to test for hundreds of conditions at one time.
4. “What are the pros and cons of genetic screening for my situation?”: Ask your doctor to explain both the advantages and potential drawbacks, including emotional and ethical implications.
5. “How accurate are the tests?”: While many genetic screenings are highly accurate, no test is perfect. Discuss the possibility of false positives or false negatives.
6. “What if the results indicate a risk?”: Talk with your doctor about potential next steps, which may include counseling, treatment, or informed decision-making about your pregnancy.
7. “Will my insurance cover this?”: Confirm your coverage details and any out-of-pocket expenses you might incur.
8. “Where can I learn more?”: Ask your doctor to recommend reputable websites or literature. For additional information, the Canavan Foundation provides resources on screening and other family health concerns.

When to Consider Genetic Screening

Couples who are planning to have children or those in early stages of pregnancy should consider genetic screening. Even if you already have a healthy child and are looking to expand your family, screening remains relevant as genetic disorders may not manifest in every pregnancy.  In addition, while you may have been screened before an earlier pregnancy, you could now be screened for conditions for which you weren’t screened in the past as additional diseases are frequently added to the screening panels.  Timely identification offers the chance to plan for medical interventions, supportive care, or alternative family planning options if needed.

Genetic screening can be a proactive step in safeguarding your family’s health. We encourage you to start a dialogue with your healthcare provider, ask specific questions, and explore reliable resources, such as the Canavan Foundation, to gain a deeper understanding of how genetic screening fits into your family planning journey.

The Canavan Foundation is dedicated to educating at-risk populations about Canavan disease and other genetic diseases and the reproductive options available to carrier couples. We encourage preconception genetic carrier screening whenever appropriate. In addition, the foundation supports research towards treatments and a cure for Canavan disease. You can look into getting screened today or support our critical work by making a donation!