Genetic carrier screening is a proactive step in family planning that can provide valuable insights into your reproductive health. Whether you’re actively planning to start a family or thinking about your future options, understanding more about carrier screening can help you make informed decisions about your reproductive journey.

What is Carrier Screening?

Carrier screening is a genetic test that determines if you carry gene variants that could affect your future children’s health. Using a simple saliva sample, this screening can identify if you’re a carrier for various inherited conditions, even if you have no family history of genetic disorders.

Being a carrier of an autosomal recessive condition means that one of two copies of your gene contains a mutation that shuts down the function of that gene, so that it is no longer working. For autosomal recessive genes, one copy of the gene being functional is enough!  While carriers typically don’t have symptoms themselves, they can pass these variants to their children. If both parents carry variants in the same gene, their children may inherit two copies of the mutated gene, have no working copy of that gene at all, and therefore exhibit symptoms of the condition.

When Should You Get Carrier Screening?

The optimal time to get carrier screening is before pregnancy.

This proactive approach provides several important advantages, allowing you to:

• Make fully informed decisions about your family planning journey
• Explore the complete range of available reproductive options
• Have adequate time to consult with genetic counselors about your results
• Plan for any necessary early interventions
• Reduce anxiety about genetic conditions during pregnancy
• Discuss results with family members who might also be carriers

Even if you’re already pregnant, carrier screening can provide valuable information to help you access prenatal testing and prepare for your baby’s potential health needs.

The Carrier Screening Process

Getting carrier screening through jscreen is straightforward and convenient.

Here’s a detailed breakdown of the process:

1. Order Your Kit: Visit www.jscreen.org to order your at-home saliva testing kit. The ordering process is simple and includes a comprehensive health questionnaire to ensure appropriate testing.

2. Provide Your Sample: Once your kit arrives, follow the clear instructions to collect your saliva sample. The process is painless and takes only a few minutes.

Important tips for collection include:

• Don’t eat, drink, smoke, or chew gum for 30 minutes before collection
• Collect the sample when you can focus without interruptions
• Follow all labeling instructions carefully

3. Submit for Testing: Use the pre-paid envelope to send your sample to the lab. The advanced testing process examines hundreds of genes associated with inherited conditions.

4. Review Results: Within a few weeks, you’ll be able to schedule a consultation with a genetic counselor to understand your results.

These professionals can:

• Explain your results in clear, understandable terms
• Answer questions about specific conditions
• Discuss implications for family planning
• Provide guidance on next steps if needed

Understanding Your Results

Carrier screening results typically fall into two main categories, each with important implications:

Negative Result:

• Indicates you’re not a carrier for the tested conditions
• Significantly reduces your risk of passing on conditions included on your panel
• Provides reassurance for family planning
• Remember that no genetic test can eliminate all risk

‍Positive Result:

• Shows you carry one or more genetic variants
• Doesn’t typically affect your personal health
• May impact reproductive decisions
• If both partners carry variants in the same gene, there’s a 25% chance of having a child with that condition
• Genetic counseling can help you understand your options

Who Should Consider Carrier Screening?

Carrier screening is recommended for:

• Couples planning to start or grow their family
• Individuals in their reproductive years
• People with or without known family history of genetic conditions
• Those with specific ethnic backgrounds that have higher risks for certain conditions
• Partners using donor eggs or sperm
• Anyone wanting to understand their reproductive risks better

Common Conditions Screened

jscreen’s comprehensive panel screens for hundreds of genetic conditions, including:

• Cystic fibrosis, which affects breathing and digestion
• Spinal muscular atrophy, impacting muscle strength and movement
• Tay-Sachs disease, a serious neurological condition
• Fragile X syndrome, affecting intellectual development
• Many other inherited conditions that can impact quality of life

Understanding these conditions helps you make informed decisions about your reproductive health and future family planning.

Taking Action After Results

If carrier screening identifies both partners as carriers, several options are available:

Preconception Options:

• Preimplantation genetic testing during IVF
• Using donor eggs or sperm
• Adoption
• Natural conception with informed decision-making

During Pregnancy:

• Prenatal diagnostic testing
• Early preparation for specialized medical care
• Connection with support groups and resources
• Development of care plans with medical professionals

Support Services:

• Genetic counseling for detailed guidance
• Medical specialist referrals if needed
• Family planning discussions with healthcare providers
• Access to support groups and resources

Get Started with Carrier Screening

Ready to take this important step in your family planning journey? Visit www.jscreen.org to order your carrier screening kit and access genetic counseling services. Our comprehensive testing and supportive guidance can help you make informed decisions about your family’s future.