What is genetic testing?

Genetic testing refers to any type of test that examines a human DNA sample for any gene mutation associated with the expression of certain diseases, traits, or predispositions. It’s most commonly used to screen for illnesses with a strong genetic component, like muscular dystrophy, but can also be used to learn things like a fetus’ biological sex.

Officially speaking, there are three main approaches to genetic testing:

1. Cytogenetic genetic 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 any inherited gene mutation

From a functional perspective, these three approaches may be used for any of the following applications:

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

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

• Newborn genetic screening, which checks infants for genetic disorders

• Genetic testing, which is used to diagnose a suspected illness in children or adults

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

In addition to its clinical applications, genetic testing has been used for other practical purposes, like determining kinship (paternity testing) or gathering DNA-based evidence of criminal behavior (forensic genetic testing).

How much is genetic testing?

When genetic testing first entered the marketplace, its cost was prohibitively high for many people—no matter what they were using it for. 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 between $100 and $1000.

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?

You’re unlikely to find many insurance plans that include genetic testing under their coverage. While there are some exceptions, in general, more sophisticated, in-depth testing—or tests taken to learn non-urgent medical information, like ethnicity—aren’t covered by insurance.

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. Testing procedures differ depending on the company and what you’re testing for, but most DTC at-home 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. Credible companies will ensure test 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. Before sending in a sample, it’s important to verify that your company of choice is certified under CLIA to ensure its screening practices are up to federal standards.

Following the analysis stage, companies typically e-mail a report to the purchaser that discloses and interprets the genetic test’s 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, the steeper, immediate expense of in-depth testing might be worth it since it could save you considerable medical expenses 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. Both DTC and provider-administered genetic testing are 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
• Cystic fibrosis
• Parkinson’s disease
• Sickle cell disease
• Tay–Sachs disease
• Fragile X syndrome
• Celiac disease (the autoimmune disease triggered by the consumption of gluten)

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.

#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.

What are the drawbacks of genetic testing?

In itself, genetic testing poses no health risks. It’s a uniquely safe procedure, with increasingly accurate genetic test results delivered without the need for an intermediary healthcare provider.

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. Even though many genetic tests screen for medical conditions, many DTC tests are not protected under HIPAA.

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 prenatal 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.

Moms, Get Results You Can Trust with SneakPeek

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 know the gender of your baby. Fortunately, you can discover gender results earlier with our Early Gender DNA Sneak Peek Test. This is a gender blood test that identifies your baby’s sex as early as 6 weeks into your pregnancy. With over 99% clinically proven accuracy¹, 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.