Who Should Be Screened and How Is the Screening Done?
Genetic Screening: Who Should Be Screened, and How is the Screening Done?
If you, or you and a 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.
Genetic carrier screening is an essential tool that helps individuals understand their genetic make-up and any potential risks for passing inherited conditions to their children.
But what exactly is genetic carrier screening, and why is it important, especially for those planning to start or expand a family? This article explains the purpose of genetic carrier screening, who should undergo the screening, and how it is performed.
What Is Genetic Screening?
Genetic carrier screening (for autosomal recessive conditions) involves testing a person’s DNA to identify inherited conditions that they may carry but not necessarily exhibit symptoms of themselves. Genetic carrier screening can help detect specific conditions that can be passed on to future generations, allowing individuals to make informed decisions about family planning. Genetic carrier screening identifies whether a person carries one or more genetic mutations, even if they are healthy and symptom-free.
The Importance of Genetic Carrier Screening
Genetic carrier screening is a primary type of genetic screening. It focuses on identifying carriers of specific genetic disorders — individuals who have one copy of a gene mutation for a particular condition. A carrier may not experience symptoms but can pass the mutation on to their children, potentially leading to genetic conditions if both parents carry the same gene mutation.
This is crucial information for couples planning a pregnancy, as it can help them understand the likelihood of passing on genetic disorders like Canavan disease. If both partners are carriers of the same genetic mutation, there is a 25% chance with each pregnancy that their child will inherit two copies of the mutated gene, leading to the disorder.
Who Should Get Screened?
Genetic screening is now recommended for all individuals and couples who are planning a pregnancy or expanding their family, regardless of family history or ethnic background. Since many genetic disorders are inherited, it is optimal to undergo screening before conceiving.
Who Benefits From Genetic Carrier Screening?
• Couples Planning to Start a Family: Before pregnancy, it’s vital to understand the potential genetic risks. Screening can identify whether both parents are carriers of a particular genetic condition, enabling them to discuss options with their healthcare providers.
• Pregnant Women: For those who become pregnant without prior screening, genetic screening during pregnancy can provide valuable information about the child’s genetic health. Genetic screening can help detect certain conditions early in the pregnancy, allowing for informed decision-making.
• Genetic screening during pregnancy can help detect whether the unborn child is at risk for certain inherited conditions, including disorders like cystic fibrosis, sickle cell anemia, and Canavan disease. Pregnant individuals should consult with a healthcare provider to decide which tests are most appropriate for their situation.
• Individuals With a Family History of Genetic Conditions: Previously, priority was given to those with a known family history of genetic disorders to assess their risk of passing on these conditions. It is still vital that you share any information about genetic diseases in your family with a doctor or genetic counselor.
How Is Genetic Screening Done?
The process of genetic carrier screening is typically done through a blood or saliva sample. Here’s how the screening is generally carried out:
1. Sample Collection: A blood sample or saliva swab is collected to obtain DNA
2. Lab Analysis: The sample is analyzed in a laboratory to detect any gene mutations that could lead to genetic disorders.
3. Results: The results usually take one to two weeks to process. If the test reveals that you are a carrier of a genetic condition, you may be offered counseling to understand the implications and options.
Where is the Screening Done?
Sample collection for genetic carrier screening is usually done at a doctor’s office. As the woman is generally screened first, any Ob-Gyn should be familiar with the process. If you have a known family history of genetic disease, you may want to consult with a genetic counselor early on.
Screening can also be done by using a qualified online service, with sample collection done at home. The Canavan Foundation endorses JScreen’s Reproductive Carrier Screen because it is straightforward and affordable, and includes genetic counseling.
Genetic Screening for Canavan Disease
Canavan disease is a rare but severe genetic disorder that affects the brain and nervous system. It is most common among individuals of Ashkenazi Jewish descent, though it can affect people of any ethnicity. The disorder is caused by a deficiency in an enzyme called aspartoacylase, leading to the progressive degeneration of brain cells.
Testing for Canavan disease as part of genetic carrier screening is critical for families who are at risk. Individuals who are carriers of the gene responsible for Canavan disease don’t have any symptoms, so there is no way of knowing the risk without testing. Early detection through genetic screening allows couples to make informed decisions about their health and their child’s future.
Don’t Wait to Talk to Your Doctor or a Genetic Counselor About Genetic Carrier Screening
Genetic screening is a vital tool for anyone planning to start or expand their family. Understanding genetic risks through genetic carrier screening empowers individuals and couples to make informed decisions about their health and family planning. The process is simple, and the results can provide invaluable insights into the genetic health of potential children.
If you are planning a pregnancy or are already pregnant, consider speaking with a healthcare professional about genetic carrier screening for pregnancy as early as possible. By doing so, you can better understand the risks of passing on conditions like Canavan disease.
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!
