What is Genetic Testing and What Can It Tell Me About My Health?

Genetic testing is older than we think. Discoveries in the 1950s have given doctors the ability to test for genetic conditions such as Down syndrome, cystic fibrosis, and Duchenne muscular dystrophy. 

And it’s taken a turn. Genetic testing has gone from an optional procedure to test for medical problems to a way to determine if one should celebrate the obscure, international holidays. As of February 2018, more than 12 million people have had their DNA analyzed with direct-to-consumer genetic genealogy tests. 

Regardless of how you use genetic testing, it’s an innovation worth the time to investigate. Keep reading to learn more about how genetic testing can improve your health and possibly save your life. 

What is Genetic Testing? 

Genetic testing is a test that examines DNA. DNA is the chemical database that basically determines everything in your body from the color of your eyes to the number of hairs on your head. 

This test examines your DNA and thus will scrutinize your genes and reveal gene mutations or changes that could cause illness or disease.  

Genome Sequencing

Genetic testing will look for inherited mutations in healthy cells. If you have healthy cells that could potentially mutate, genetic testing will predict this.

Genome sequencing occurs when a practitioner analyzes a sample of DNA taken from your blood. The genomic sequencing will look at genetic mutations in unhealthy cells.  

The Limits of Genetic Testing

Genetic tests, like all medical tests, have limitations. A healthy person has the potential to receive a positive test for a gene mutation. This person may still live a long, healthy life, however, depending on the diagnosis.

Conversely, a negative test does not mean the genes will never mutate. You could still acquire a disorder. 

With that said, the tests, in general, are valuable because they can help predict big problems in the future. 

Who Does Genetic Testing? 

While many consumer genetic tests have evolved to determine a person’s ancestry, the most reliable genetic tests are performed by a medical geneticist, a doctor, or a genetic counselor. Additionally, a good practitioner will help you determine what to do with the information a genetic test reveals. 

Why Get a Genetic Test? 

Because of advanced medical science, patients can use genetic tests for a number of reasons.


A genetic test can identify the gene mutation that causes cystic fibrosis as well as Huntington’s disease. Perhaps you have the symptoms for a particular disease. The genetic test will confirm a diagnosis. 

To Predict a Pre-symptom Condition

What if you have a family member with a disorder, but you have not yet shown symptoms. A genetic test will help you determine if you’re likely to have the same condition in the future. 

Carrier Testing

You may be carrying a gene that won’t affect you but could affect your children should you choose to have any. Knowing that you’re carrying a particular gene will help you make responsible family decisions. In particular, sickle cell anemia, cystic fibrosis, and genetic disorders specific to a particular ethnic group have carrier genes. 

Prescription Science

Identifying the gene that leads to your disorder means your doctor can have a specific diagnosis. This also means the doctor will then know which meds will work best for you and your condition. 

Prenatal Testing

The earliest genetic tests were prenatal–tests to determine a genetic mutation in babies. In particular, Down syndrome and trisomy 18 syndrome can be detected early with genetic testing.

The physician will look at markers in blood or do an invasive test such as amniocentesis, where a practitioner will insert a hollow needle in the mother’s abdomen to extract amniotic fluid.  

Newborn Screening

All newborns born in a hospital in the United States are screened using genetic testing.  Early detection of congenital hypothyroidism, sickle cell disease, or phenylketonuria (PKU) means a doctor can begin effective treatment immediately. 

Preimplantation Testing

If you are having a child through in vitro fertilization, the physician will screen your embryos for genetic abnormalities before implantation. Diagnosis of genetic conditions before implantation will lower the risk of miscarriage caused by genetic mutations. 

Pregnancy and Age

If you qualify in the “advanced maternal” category, meaning you’re over 34 years old and pregnant, you have an increased chance of having a child with a chromosomal problem. Older fathers have a higher risk of having children with new dominant genetic mutations, a disease that has not occurred in the family yet. 

Physicians will recommend genetic testing for their advanced maternal patients because of this increased chance.  

How is the Test Done? 

Not all genetic tests are the same. Doctors can determine mutations using different means.

Blood sample

An adult needs to endure a needle to the vein, and a baby will receive a prick on the heel for an adequate blood sample. 

Cheek swab

A practitioner will swab your cheek to acquire an adequate amount of spit for a sample with a cheek swab test. 


Amniocentesis is arguably the most invasive procedure for genetic testing. A doctor examines amniotic fluid after inserting a thin, hollow needle through the mother’s abdominal wall and extracting the fluid. 

Chorionic villus sampling

Chorionic villus sample is also invasive. A physician harvests a tissue sample from the placenta. He can do this with a tube through the cervix or through the abdominal wall and uterus using a thin needle. 

Risk versus Diagnosis

Both positive and negative results can yield a mixture of emotion.

A positive result means you’re at risk for a given disorder but not necessarily certain to develop the disease. 

A negative result does not mean you will not develop the disease ever. You must remain aware of potential symptoms even if you test negative. For example, several symptoms that precede breast cancer appear at the onset of the disease, so stay aware of symptoms instead of relying on just a genetic test for breast cancer. 

A risk is not a certain diagnosis with some genetic testing, especially when we’re talking about testing for a gene such as a cancer gene. 

Know Yourself

As you consider genetic testing, know yourself. Understand your fears and know if a genetic test will either assuage the fears or feed them. Then move forward with confidence. 

If you’re looking for a physician who can help you identify a genetic condition, check out our network of healthcare providers.

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