DNA Tests for Medical Conditions

Updated on February 19th, 2019

What's In This Guide?

    Disclaimer: Before You Read

    It is important to know that your genes are not your destiny. There are various environmental and genetic factors working together to shape you. No matter your genetic makeup, maintain ideal blood pressure and glucose levels, avoid harmful alcohol intake, exercise regularly, get regular sleep. And for goodness sake, don't smoke.

    Genetics is a quickly changing topic. Read More.

    Learning about your DNA is fascinating, especially when you get a glimpse at your health from another perspective. At YourDNA, we do all of the research on DNA tests for medical conditions so you have all the resources you need in one convenient location.

    Quick Overview

    Sometimes it seems like random medical conditions arise out of nowhere, but the truth is your DNA can determine whether or not you’re a carrier for some conditions and identify higher risk levels for others.

    Since it’s impossible to know simply by looking at someone if they’re affected, it’s necessary to dig deeper. This is where DNA tests for medical conditions come in handy.

    The genomic data within helps researchers not only learn more about how medical conditions present themselves in DNA, but also helps identify markers and mutations that indicate risk levels. While they’re not foolproof, they do provide a lot of insight that can help you make plans and researchers make strides in the study of specific diseases and disorders.

    How Do DNA Health Tests Work?

    DNA health tests work in that they use your buccal swab or saliva sample to extract your genomic data.

    This data is then analyzed by qualified lab technicians to look for specific markers that indicate whether you carry a gene or chromosomal mutation that indicates you’re at a higher risk of developing a medical condition, whether it’s a disease or disorder.

    Some of these mutations are familial or inherited, while others are unrelated, it all depends on whether there’s a family history and whether family DNA profiles showcase the same mutations. If you suspect there’s a family tie, it’s a good idea to have your family members do the same tests.

    What Medical Conditions Can DNA Tests Find?

    There are several types of DNA tests on the market that can help identify medical conditions, but the conditions that each one can identify depends on the test itself.

    Some are specialized in what they look for such as markers for cancer and Alzheimer’s. Others are comprehensive with a long list of diseases and disorders they can identify.

    Currently, you can find DNA tests that look to identify your risk level for specific diseases and conditions such as:

    • Diabetes
    • Celiac disease
    • Parkinson’s
    • Muscular degeneration
    • Gluten sensitivity
    • Cancer
    • Alzheimer’s
    • Cystic Fibrosis
    • Hearing loss

    Companies like 23andMe, Helix and GenetiConcept, along with several others offer at-home tests that you can take at your leisure.

    What Are the Benefits of Testing Your DNA for Medical Conditions?

    There are a number of benefits of testing your DNA for medical conditions.

    First, it can give you a glimpse as to whether you’re a potential carrier for specific disorders.

    This helps with family planning if you’re carrying a mutation that’s known to pass down between family members. Learning your status also helps with preparing for the future.

    What Are the Risks and Limitations of Testing Your DNA for Medical Conditions?

    Like with everything, there are pros and cons to getting your DNA tested for medical conditions.

    While there are no outright risks, there is the chance that your test results may show unfavorable results. It can be shocking to learn that you’re a carrier for a disease or disorder that you have no family history of.

    However, it’s important that you don’t rush to conclusions.

    Just because a DNA test may show that you test positive for a specific marker or gene mutation, it’s best to avoid making rash decisions based solely on the results. Instead, speak with a genetic counselor or healthcare provider to evaluate your results further 1.

    Also, it’s important to know that just because you test positive doesn’t mean that you’ll develop the disease or disorder unless it’s a familial or inherited risk factor, and that’s only true for very specific conditions.

    Are DNA Tests for Medical Conditions Accurate?

    For the most part, you can rely on the results from your DNA tests, especially when you choose an FDA-approved test, such as the one offered by 23andMe 2.

    Having FDA approval means that the results have been proven to be greater than 99 percent accurate.

    If you’re having the tests carried out in a laboratory at your doctor’s request, you can rely on the results to be accurate. However, it’s not out of the realm of possibility that the tests could be inaccurate, especially when human error factors in.

    It’s also possible to receive false positives 3. This is why it’s so crucial that you have your results reviewed by your doctor before making any life-altering decisions such as having a double mastectomy or removal of ovaries and fallopian tubes.

    Are Over the Counter DNA Tests Accurate?

    Most over-the-counter DNA tests are held to the same standards as those done in a laboratory. While no test can ever be 100 percent accurate, since there’s always a small margin of error, you can rely on your results to be at least 99 percent accurate.

    Where Can I Buy a DNA Test for Medical Conditions?

    There are a few places you can buy an at-home DNA test for medical conditions.

    The most convenient place to purchase one is directly through a company on their website. This way, you know you’re getting an authentic product.

    Additionally, you can find a few different DNA tests on Amazon and specific retailers such as Walmart, CVS and Walgreens to name a few.

    How Much Are DNA Tests for Medical Conditions?

    The amount you can expect to pay for a DNA test depends on who you purchase the test from and how comprehensive it is.

    The more information a test provides, the more you can expect to pay, so if you choose a brand that evaluates several diseases and disorders, you’ll pay more than you would for one that specializes in cancer or Alzheimer’s, for example.

    Most tests range from $25 to $250, though some are a bit more expensive. If you choose to have your DNA test completed through your physician, you can expect that the cost will be more, but insurance can help cut down on what you pay out of pocket.

    Does Insurance Cover DNA Testing for Medical Conditions?

    This really depends on how you go about having the DNA tests done.

    If you have a prescription or lab order from your physician, chances are your medical insurance will cover at least a portion of it, potentially all of it if the test is medically necessary 4.

    If you opt to have an at-home test done, your insurance will likely not pay for it, though some companies do if you meet special conditions. However, if you’re doing it for curiosity’s sake, your insurance will probably refuse to pay.

    It’s also not tax deductible as a medical expense, so keep this in mind.

    How Long Does It Take to Get the Results?

    DNA tests do not take terribly long to process. Most companies state that their results are available within 4 to 8 weeks.

    If the labs are backed up, however, it could take several weeks longer than this time frame.

    The quickest results come when you have DNA tests carried out through a genetic counselor or healthcare professional. Sometimes, you can have the results in a matter of days, though a few weeks is standard.

    Are DNA Test Results for Medical Conditions Hard to Interpret?

    At-home DNA test companies strive to make it easy for consumers to understand the results of their genomic data.

    In-depth reports help you understand the results, whether they’re positive, negative or uninformative. These reports are free of jargon and explained in easy-to-understand layman’s terms.

    If you have any questions about your results, some companies offer explanations through contracted professionals, but you can also reach out to your doctor and have them review the results with you to explain any areas that you may be confused about.

    Are DNA Tests for Medical Conditions Approved by the FDA?

    Some of them, yes. Not every test has FDA approval, however.

    If you’re looking for the ones with the highest accuracy rates, it’s best to go with a company that has sought out and been approved by the FDA. As of February 2019, the only over-the-counter company with FDA approval is 23andMe.

    Others that carry approval are not offered over the counter, but rather only in laboratories.

    Does Being Sick Affect DNA Test Results?

    Typically being sick does not affect your DNA test results. However, there are some certain circumstances.

    For example, if you’ve recently been treated with antibiotics due to an infection in your mouth or throat, you might want to wait until you’re fully recovered. This is simply because the saliva and buccal swab samples come directly from these areas.

    Some companies do request that you inform them if you’re a bone marrow transplant recipient or you’ve received skin grafts from donors, particularly in the mouth area. These occurrences can cause yours and the donor’s DNA to mash up and cause inaccurate results 5.

    Which DNA Test for Medical Conditions Is Best for You?

    There are several tests on the market as of February 2019. The best one for you is one that matches your unique needs.

    Some provide ancestry information along with health reports. If you’re not interested in your ancestry results, you can buy one that focuses solely on your health.

    When looking for the best one to fit your needs, be sure to review the conditions that each test offers when you’re comparing them.

    DNA Tests for Medical Conditions Reviews

    There are several DNA tests for medical conditions offered by a few different companies including 23andMe, Futura Genetics and Vitagene.

    The prices listed for each are accurate as of February 2019.

    23andMe

    Currently the only FDA-approved health test, 23andMe offers a comprehensive overview of several different health concerns. They evaluate for cancer including the BRCA1 or BRCA2 gene for breast, ovarian and prostate cancer risks.

    They look for carrier markers in other conditions such as Cystic Fibrosis, sickle cell anemia and MCAD deficiency. This test requires a saliva sample and costs $199, though you may find it on sale at various times throughout the year.

    Futura Genetics

    Futura Genetics has a 4-week timeline for their comprehensive health DNA test. In addition to a general health risk outlook, the test also evaluates your genomic data for 28 conditions. These include cancers such as breast, melanoma, lung and colorectal.

    Skin conditions such as psoriasis and alopecia are included as are degenerative and heart diseases.

    GenetiConcept

    GenetiConcept evaluates specific markers that cover dozens of medical conditions ranging from skin issues to more serious diseases such as sarcoma, Hodgkin Lymphoma and kidney cancer. It can also evaluate whether you’re at a higher risk for developing a nicotine dependence or lactose intolerance.

    Their health DNA test costs $149, but they can also evaluate your raw data if you took your at-home test through 23andMe.

    Learning what information your DNA contains can be both intriguing and nerve-wracking. Take your reports, even if they contain positive results, and speak with a qualified healthcare professional before you make any decisions.

    Referenced Sources

    1. How A Genetic Counselor Could Help You or Your Family.
      ABOUT GENETIC COUNSELORS. NSGC. 2019.
    2. Lists of Direct-To-Consumer Tests with Marketing Authorization.
      U.S. Food & Drug Administration. 2019.
    3. False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care. Genetics in Medicine 20, 1515–1521.
      Stephany Tandy-Connor MS, Jenna Guiltinan MS, Kate Krempely MS, Holly LaDuca MS, Patrick Reineke BS, Stephanie Gutierrez BS, Phillip Gray PhD & Brigette Tippin Davis PhD, FACMG. 2018.
    4. Will health insurance cover the costs of genetic testing?
      U.S. National Library of Medicine. Genetics Home Reference. 2019.
    5. Genetic testing and counseling of a recipient after bone marrow transplant from a sibling harboring a germline BRCA1 pathogenic mutation.
      Škerl P, Krajc M, Blatnik A, Novaković S. Published Online 06 Jun 2017.