What is Genetic Testing?

Most people never think about their genes. They are a key component of what makes us “us”, but until certain life events occur, genes likely don’t come up in everyday conversation. Now, though, you’ve started thinking more about them and how they could affect your future. Maybe a doctor mentioned “carrier screening” at a prenatal appointment. Maybe a close relative was diagnosed with cancer, and someone in your family suggested getting tested. Or maybe you’re planning to start a family and wondering what questions you should be asking.

Genetic testing can feel like a complicated, clinical concept, but at its core, it’s straightforward: it’s information. Information about your DNA that can help you make better decisions for your health and your family’s future.

This brief guide explains what genetic testing is and what to expect from the process.

What Is Genetic Testing?

Genetic testing analyzes your DNA, the biological code that makes up every cell in your body, to look for variations or mutations that may affect your health or the health of your children.¹

Your DNA is inherited from your biological parents. Because of this, certain health conditions, risks, and traits have the potential to be passed from generation to generation. Genetic testing helps identify whether you carry any of these inherited variations, oftentimes before any symptoms ever appear.²

There are many types of genetic tests, but two are especially relevant for most people thinking about their family’s health: reproductive carrier screening and hereditary cancer testing.

Reproductive Carrier Screening: Planning for a Healthy Family

What Is It? 

Reproductive carrier screening, also called genetic carrier screening or preconception genetic testing, tests whether you carry a gene variant for an inherited disease that you could pass on to your children.³

Everyone carries two copies of most genes: one from each parent. If one copy works correctly, the other may not, and you’d typically have no symptoms. In this case, you are a “carrier” of that condition. When two carriers have a child together, that child has a 1-in-4 chance of inheriting two non-working copies and developing the disease.⁴

Who Should Get Reproductive Carrier Screening?

Reproductive carrier screening is recommended for anyone pregnant, planning to become pregnant, or considering expanding their family.⁵ Major medical organizations, including the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics and Genomics (ACMG), recommend offering expanded carrier screening to all patients regardless of ethnicity or family history.⁶

Certain groups face an elevated risk for specific diseases. People of Ashkenazi, Sephardi, or Mizrahi Jewish heritage, for example, have higher carrier rates for conditions like Tay-Sachs disease, Gaucher disease, Familial Dysautonomia, and Canavan disease.⁷ That said, jscreen tests for conditions common across all ethnic backgrounds, making carrier screening valuable for everyone, including interfaith and inter-ethnic couples.

What Your Results Mean

If you are determined to be a carrier, it doesn’t mean you or your children will have the disease. It means you have information. If both partners are carriers for the same condition, a genetic counselor can walk you through your options, which may include:

• Preimplantation genetic testing (PGT) with IVF, to test embryos before implantation
• Prenatal diagnosis during pregnancy (such as amniocentesis or chorionic villus sampling)
• Use of donor sperm or eggs
• Adoption or other family-building paths
• Preparation for early treatment and monitoring if a child is born with the condition

Hereditary Cancer Screening: Understanding Your Risk Before Symptoms Appear

What Is It?

Hereditary cancer screening, sometimes called cancer genetic screening or cancer gene testing, looks for inherited mutations in genes associated with increased cancer risk.⁸

Most cancers develop due to random mutations that occur over a lifetime. But about 5–10% of cancers are hereditary, meaning a mutation is passed down in families.⁹ The most well-known example is BRCA1 and BRCA2: mutations in these genes significantly raise the lifetime risk of breast and ovarian cancer. But hereditary cancer panels today look far beyond BRCA, testing genes associated with colorectal, pancreatic, prostate, and other cancers too.¹⁰

Who Should Get Hereditary Cancer Screening?

You may benefit from hereditary cancer screening if:

• A first-degree relative (parent, sibling, child) has had breast, ovarian, colorectal, or another hereditary cancer
• You have a personal history of cancer diagnosed at an early age
• Multiple relatives on the same side of the family have had cancer
• You are of Ashkenazi Jewish descent (higher prevalence of BRCA1/2 mutations)

The National Comprehensive Cancer Network (NCCN) recommends genetic testing for individuals with a family history suggesting hereditary cancer risk and notes that testing can lead to earlier surveillance and preventive action.¹¹

What Your Results Mean

A positive result doesn’t mean you will get cancer; it means your risk is elevated and that you and your doctor can take proactive steps. These may include more frequent screenings, risk-reducing medications, or preventive surgery.¹² Knowing your risk early creates options.

A negative result on a comprehensive panel provides meaningful reassurance that you likely do not carry the most common hereditary cancer mutations.

How Does At-Home Genetic Testing Work?

Modern genetic testing—including jscreen’s at-home tests—is simple and non-invasive:

1. Select your at-home test kit: Choose the test that’s right for you. Select a Reproductive Carrier Screening Kit or a Hereditary Cancer Screening Kit. Get started with a one-time $49 upfront fee ($69 for a combo kit).

2. Insurance estimate & family history questionnaire: If you choose to use insurance, you'll receive a personalized cost estimate from our lab partner. If genetic testing is not covered by your insurance plan, you can choose our self-pay option for $249 + the $49 upfront fee. If you purchase a hereditary cancer testing kit, you’ll also complete a brief family history questionnaire. 

3. Receive your at-home genetic testing kit: After you complete the registration form(s), our clinical team will review them, and a physician will place the order for your test. This onboarding process takes a little over a week. Your kit arrives within 48 hours of completing the onboarding process. It includes everything you need to provide a saliva sample at home—simple, private, and convenient.

4. Collect and mail your saliva kit: Remember: don't eat, drink, or use gum/tobacco for 30 minutes before collecting your sample. Return your kit in the prepaid envelope. Shipping is included.

5. Secure results delivery & certified genetic counseling: Receive your results within 3 weeks of your sample arriving at the lab. You can choose to have a complimentary virtual counseling session with a certified genetic counselor to understand what your results mean and discuss next steps.

Why Genetic Testing Matters

The value of genetic testing is not in the fear it might create; it’s in the clarity it provides.

The vast majority of people who get carrier screened will not find that both partners carry the same condition. Most people who complete a hereditary cancer panel will not carry a high-risk mutation. But for those who do, that knowledge is life-changing, and it enables them to make informed reproductive decisions, pursue early monitoring, or take preventive steps that simply wouldn’t be possible without genetic testing.

And for everyone else, it offers something equally valuable: peace of mind.

Ready to get started? Order your Hereditary Cancer Screening Panel or Reproductive Carrier Screening Kit today, and know that jscreen will be here for you - every step of the way. 

References

1. National Institutes of Health, National Library of Medicine. Genetic testing. MedlinePlus. Updated 2024. Accessed June 5, 2026. https://medlineplus.gov/genetictesting.html
2. Mayo Clinic. Genetic testing: what you can expect. Mayo Clinic. Updated 2025. Accessed June 5, 2026. https://www.mayoclinic.org/tests-procedures/genetic-testing/about/pac-20384827
3. American College of Obstetricians and Gynecologists. Carrier screening. Obstet Gynecol. 2023;141(3):e8–e15. https://doi.org/10.1097/AOG.0000000000005098
4. American College of Medical Genetics and Genomics. Expanded carrier screening in reproductive medicine. Genet Med. 2023;25(3):100345. https://doi.org/10.1016/j.gim.2022.100345
5. American Society for Reproductive Medicine. Preconception genetic testing: a committee opinion. Fertil Steril. 2023;120(2):265–271. https://doi.org/10.1016/j.fertnstert.2023.05.159
6. American College of Obstetricians and Gynecologists; American College of Medical Genetics and Genomics. Joint statement on expanded carrier screening. Obstet Gynecol. 2023;141(4):e64–e70. https://doi.org/10.1097/AOG.0000000000005148
7. National Tay-Sachs & Allied Diseases Association. Jewish genetic diseases: prevalence and carrier rates. Updated 2024. Accessed June 5, 2026. https://www.ntsad.org
8.  National Cancer Institute. Genetic testing for inherited cancer susceptibility syndromes. Updated 2025. Accessed June 5, 2026. https://www.cancer.gov/about-cancer/causes-prevention/genetics/genetic-testing-fact-sheet
9. Apostolou P, Fostira F. Hereditary breast cancer: the era of new susceptibility genes. Biomed Res Int. 2013;2013:747318. https://doi.org/10.1155/2013/747318
10. National Comprehensive Cancer Network. NCCN Guidelines for Patients: Genetic Testing for Hereditary Cancer. Version 3.2026. Accessed June 5, 2026. https://www.nccn.org/patients
11. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. Version 2.2025. Accessed June 5, 2026. https://www.nccn.org
12. Domchek SM, Friebel TM, Singer CF, et al. Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA. 2010;304(9):967–975. https://doi.org/10.1001/jama.2010.1237