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5 Things You Need To Know Before Taking an At-Home Genetic Test

As genetic testing increases in availability, here are five important things to consider before sending off your money and saliva.
Samples are prepared for DNA testing.Georges Gobet / AFP-Getty Images

DNA is what makes us who we are. In humans, our genetic makeup is 99.9 percent similar to the person next to us, but that tiny 0.1 percent difference is what makes each of us unique — providing us with traits such as eye and hair color, height, and even disease.

Genetic testing is now available for over 2,000 conditions from over 500 different laboratories, according to the National Institutes of Health. As genomic technology grows at a rapid pace, testing that was once reserved for newborn screening exams and a handful of genetic disorders is now commercialized.

It’s simple: order, spit, ship, and wait.

Genetic testing is now available for over 2,000 conditions from over 500 different laboratoriesReuters, file

Prior to April 2017, genetic testing was limited to medical professionals who were testing their patients for certain inherited traits and disorders. With the Food and Drug Administration's approval of the first ever direct-to-consumer test, the company 23andMe can not only sell commercial DNA kits to determine ancestry, but they can test for 500,000 genetic variants to assess for risk of developing any one of 10 diseases. You can do this in the privacy of your home. But should you?

Here are 5 questions to ask before ordering a home genetic testing kit.

1. Is this test right for me?

Be an informed consumer. Experts recommend seeking professional genetic counseling even before ordering the kit to better understand the implications and limitations of the results. Since the process of developing a disease is much more complicated than just the presence or absence of a certain gene, seeking out the expertise of a genetic professional can aid with putting the results into context based on your family history and medical problems.

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The FDA recognizes the seriousness of this testing, and reports that consumers must first acknowledge that the results may cause anxiety. The opt-in page provides resources to professional medical associations.

2. What am I being tested for?

In the only commercially available direct-to-consumer test currently available, 23andMe assesses your genetic risk for a few different diseases.

  • Parkinson’s disease
  • Alzheimer’s disease (late onset)
  • Alpha-1 antitrypsin deficiency (affects the lungs and liver)
  • Hereditary thrombophilia (affects blood clotting)

“The Alzheimer’s Association believes you need to think thoroughly before getting a genetic test,” says chief science officer of the Alzheimer’s Association Maria C. Carrillo, Ph.D. “There are 100s of genes for the Alzheimer’s disease. So, it’s important for people to know the test is only looking for one gene that has the highest risk for Alzheimer’s.

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If there are other diseases you are concerned about, speak with your doctor or a genetic counselor who is capable of ordering specialized testing.

3. Will these tests predict my future?

No, the current test offered does not have the capability to diagnose you with a certain disease. It can only inform you of your genetic risk, but not overall risk. Keep in mind DNA is not the sole determinant of disease. There are also gene variations, family history, lifestyle choices, and the environmental factors to consider in how genes are expressed. Just because someone has a genetic risk does not mean they will go on to develop the disease. In cases of sufficient scientific evidence, a genetic report will even be able to quantify a risk percentage. For example, having two copies of a certain gene variant raises lifetime risk of developing Alzheimer’s disease as high as 87 percent.

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4. Who will see my results?

Privacy continues to be a top concern as technology rapidly advances. Transparency and easy of accessibility are what companies are considering when making their privacy policies. According to the National Society of Genetic Counselors, before sending in your DNA, it is important to ask:

  • What do you plan to do with my genetic information?
  • Will it be shared with other companies, researchers, or databases?
  • Will my DNA be associated with my personal information?
  • Will the company alert me if my DNA is shared or if privacy policy change?

Different state and federal laws exist, such as the Genetic Information Nondiscrimination Act, which prohibits employers from discriminating based on genetic information. The Affordable Care Act also offered protections against health insurance companies from discriminating based on genetic testing results.

However, as health care legislature continues to evolve, it will be imperative to keep an eye on what new policies come forth.

Mary Freivogel, president of the National Society of Genetic Counselors Board of Directors, notes that there are currently no federal laws that exist relating to protections for life insurance, long term care insurance, or disability insurance.

5. What will I do once I have the results?

Just as experts recommend seeking advice from a genetic counselor prior to testing, it is probably more important to have a professional weigh in once the results are back. They can help you interpret the implications of your genetic risk, understand what you can do to prevent or monitor for early signs of the disease, and how you should discuss your results with relatives who have similar DNA.

“It goes beyond the science and genetics and one should think about the societal and family implications,” says Carrillo. “Talk to the genetic counselors before and after taking a genetic test. It is important understand the results since it can have implications for you and your family.”

If you are considering sending off you spit here are additional resources about genetic testing to help inform your decision.

Parminder Deo is an associate producer for NBC News. Dr. Jacqueline Paulis, is an emergency medicine resident physician in New York City and a medical fellow for NBC News.