What is genetic testing?

Genetic testing encompasses a variety of laboratory methods that analyze genetic material—such as DNA, chromosomes, or proteins—to detect changes in a gene associated with certain diseases, traits, or predispositions. While often focused on DNA analysis, some tests evaluate proteins or chromosome structures to provide insights into inherited conditions, biological characteristics, or health risks. Genetic testing is commonly used to screen for illnesses with a strong genetic component, like muscular dystrophy, but can also reveal information such as a baby’s biological sex.

There are three main approaches to genetic testing:

1. Cytogenetic testing, which looks at an entire chromosome
2. Biochemical genetic testing, which assesses proteins generated by certain genes
3. Molecular genetic testing, which examines for gene variation

From a functional perspective, these three approaches to genetic testing can be applied in various ways, including—but not limited to—the following:

• Prenatal screening, which pregnant couples use to assess whether their child is at an increased risk of a chromosomal health condition

• Carrier screening, which helps couples who want to get pregnant or who are already pregnant see if they’re at an increased risk of passing a genetic condition onto their child

• Newborn genetic screening, which checks infants for certain genetic disorders

• Diagnostic testing, which is used to diagnose a suspected condition in children or adults

• Predictive testing, which helps individuals see if they’re at risk of developing a certain health condition later in life

How much does genetic testing cost?

A non-invasive prenatal test (NIPT) was initially out of reach for many due to its high cost without insurance, but nowadays, the landscape has changed. For more detailed information, you can explore the current NIPT test cost without insurance.

These days, however, genetic testing costs are dramatically more affordable, with tests typically costing $249-$800.

The exact cost of genetic testing will depend on several factors, such as:

• The purpose of the test
• How much of your genome is assessed
• The depth of your analysis
• Medical consultation or review of your test results

Does insurance cover genetic testing?

Fortunately, as the tools used in genetic testing become less costly to manufacture and analyses become easier to execute, many insurance firms are changing their policies, making genetic testing more widespread and affordable.

How does genetic testing work?

One of the main draws of direct-to-consumer genetic testing is its incredible convenience and accuracy. You can either take the test through your healthcare provider, who can help determine if genetic testing is right for you based on your medical history and specific health concerns, or choose to take it at home. If you opt for the at-home route, here are the steps to follow:

Testing procedures differ depending on the company and what you’re testing for, but most genetic tests require users to take the following steps:

1. Purchase a test – Recipients purchase and receive a test collection kit mailed to their home address.
2. Take a sample at home – The most common types of samples needed in genetic testing are saliva, a cheek swab, or a small amount of blood. Sample retrieval is relatively painless and simple to execute at home.
3. Mail in the sample – The recipient follows included instructions for storing their DNA sample and sending it in for review. Remember, if privacy is a concern, it’s important to review the company’s data protection policies before mailing in the sample!
4. Allow time for labs or physicians to review – Once the sample is received, it’s sent to labs for processing and review.

Following the analysis stage, companies typically e-mail a report to the purchaser that provides the test results. The turnaround time for test results varies widely depending on the type of testing and the review systems of the company you’re working with.

Is genetic testing worth the price?

Whether genetic testing is worth the price depends on your budget and what information you’re looking for.

Let’s say you’re weighing the pros and cons of genetic testing because you’re concerned your child could inherit a recessive health condition. In this case immediate expense of in-depth testing might be worth it since it could save you considerable medical expenses of trying to get a diagnosis down the road.

But many circumstances and rationales can motivate people to pursue genetic testing, from pressing health concerns to a simple desire to learn more about themselves and their history. Let’s touch on 3 benefits to consider if you’re on the fence.

#1 Catching Health Conditions Earlier

Genetics influence every illness, though some are more genetically influenced than others. Genetic testing is available to help people determine whether they or their children are at risk for a genetic disease or health condition, such as:

• Alzheimer’s disease: A progressive neurological disorder that causes memory loss and cognitive decline, often influenced by genetic factors.
• Cystic fibrosis: A hereditary disorder affecting the lungs and digestive system, causing thick mucus buildup that leads to severe respiratory and digestive problems.
• Parkinson’s disease: A neurodegenerative disorder characterized by tremors, stiffness, and movement difficulties, with some cases linked to genetic mutations.
• Sickle cell disease: A genetic blood disorder causing red blood cells to become misshapen, leading to pain, anemia, and increased risk of infection.
• Tay–Sachs disease: A rare inherited disorder that destroys nerve cells in the brain and spinal cord, usually manifesting in infancy.
• Fragile X syndrome: A genetic condition causing intellectual disability, behavioral challenges, and distinctive physical features.
• Celiac disease: An autoimmune disorder triggered by gluten consumption, causing inflammation and damage to the small intestine in genetically predisposed individuals.
• Cancer: A group of diseases characterized by uncontrolled cell growth, with some types linked to inherited genetic mutations that increase risk.

If a certain condition runs in your family, genetic testing may enable you to make more proactive decisions about your health and how you want to grow your family. Many parents concerned about passing hereditary conditions onto their children will get this type of testing done before trying to conceive.

#2 Making Personal, Informed Decisions About Healthcare and Lifestyle

Knowing what health conditions should be on your radar can be a critical component in preventative medicine. Preventative medicine is an approach to healthcare wherein individuals make informed lifestyle decisions that can lessen their risk of developing or aggravating genetically encoded illnesses (both physical and mental).

The National Human Genome Research Institute is just one organization that espouses the importance of genetic testing in healthcare. Not only can testing help to anticipate illness, but it can also aid in determining the best, most effective, and low-risk treatment protocols for their unique biological makeup.

#3 Personalized health insights for you and your baby

Genetic testing can offer more than just a glimpse into your baby’s future—it can also help you make more informed healthcare decisions during pregnancy and beyond. Your provider can also help you find a genetic counselor who may be able to guide you through your journey. Additionally, genetic testing can provide insight into potential inherited conditions, allowing you to make proactive decisions for your family’s health.

If you’re planning to conceive, genetic testing can also identify inherited conditions you or your partner may carry. With that knowledge, you can better prepare for your baby’s needs and work with your doctor to create a care plan that’s right for your growing family.

What are the drawbacks of genetic testing?

One of the key concerns for consumers considering genetic testing is privacy, as genetic testing can unlock extremely personal and sensitive information about an individual’s health.

For this reason, it’s important to familiarize yourself with a company’s data protection policies before purchasing and submitting a test sample.

If you’re looking for an option for a carrier screening test or noninvasive DNA screening, look no further. Ask your provider about taking one of our prenatal screens to receive genetic insights into your pregnancy and your baby.

Get Results with the SneakPeek Test

The applications of genetic testing are as vast as the information your genes have to share about yourself, your family, and your future family.

If you’re expecting or planning a pregnancy, you might be wondering how early you can  learn the gender of your baby. Fortunately, you can discover this information earlier with our Early Gender DNA Sneak Peek Test. This is a blood test that reveals your baby’s sex as early as 6 weeks into your pregnancy. With over 99% clinically proven accuracy,¹ SneakPeek is OBGYN’s #1 recommended at-home early gender test, enabling more than 1 million parents to get to know their future families better.