15 Advantages and Disadvantages of Genetic Testing

When it is appropriate, genetic testing can be a powerful tool that is useful in gauging the risk of a patient for specific diseases. It is a concept that seems like an unquestionable opportunity on the surface. By offering doctors access to saliva or blood, then clues to potential defects can become known. It can even become a road map toward the prediction of future problems that range from cancer to Alzheimer’s disease to cancer.

Although the results provide information that patients don’t always want to hear, the data can help families to plan for future needs. Since each parent provides half of a child’s DNA, siblings can have different test results. That’s why this info is necessary to understand each person’s current and future needs.

As the awareness of problematic genetic mutations grows, the testing mechanisms in place have become cheaper, faster, and more precise. The tests that are available today weren’t possible in the 1990s.

Before you make the decision to pursue this medical option, several advantages and disadvantages of genetic testing are worth considering.

List of the Advantages of Genetic Testing

1. Genetic testing offers insights into a person’s overall health.
Today’s genetic tests are targeting the coding component of the genes that are relevant to specific diseases. That means the DNA sequence must get read from start to finish to determine if any disruptions or interruptions are present. These items indicate the presence of mutations that can impact a person’s overall health – and even indicate the presence of a genetic disease or issue.

Altered genes typically don’t create normal proteins that you would find in unaltered DNA. Uncovering evidence of this activity is usually the first step toward treatment or a better understanding of how to manage a personal condition.

2. It lessens the levels of uncertainty that people face.
If you have worries about a future ailment because someone in your family is managing a genetic condition, then this testing can be a way to lessen uncertainty for your situation. Knowing that a mutation is not present can provide a huge sigh of relief. Even if the results of the genetic testing are positive, you can start developing a plan that can take of your health in the coming days.

This advantage here is that you’ll also know how to better manage the health of your children once you receive results. You’re trying to determine who else in your family faces risk factors, but you are also working to provide reassurance whenever possible.

3. The results of genetic testing allow you to take action.
When you have a better understanding of your genetic profile, then your portrait of risk becomes much clearer. The results can serve as a guide to your future medical care. Some genes have an association with severe diseases, while others respond well to specific medications or treatment plans. Depending on a patient’s circumstances, the outcome might lead to additional diagnostic testing, monitoring needs, and lifestyle shifts that can promote better health.

This advantage also opens the door to help other family members receive the testing needed to determine their risk factors if you receive a positive result.

4. Discrimination laws provide a measure of protection against genetic conditions.
Some patients prefer to avoid genetic testing because they fear the results could lead to an increase in their health insurance premiums. Some people have anxiety that a positive outcome could lead to their employer firing them or receiving the label of a pre-existing condition.

Although your disability, life insurance, and long-term care coverage may experience changes with a positive outcome, the Genetic Information Nondiscrimination Act of 2008 protects Americans from having employers use this information against them in some way.

5. Home genetic tests are a possibility for some conditions.
Genetic testing becomes more affordable as it continues to expand the availability of offerings. Home-based tests, which are considered direct-to-consumer products, have more availability today. This advantage is beneficial for some people because they are convenient and can help individuals understand what their risk factors might be. Any test has limitations, so it is essential that everyone who uses one to understand what they are.

That means self-education and professional advice about the results are especially important since availability in this area continues to expand.

6. Tests are available for people of any age.
Prenatal testing is available during pregnancies to help identify fetuses that may have specific genetic diseases. We also have several newborn screening tests to determine if there are any particular conditions that require immediate treatment or could cause issues with their health and development. Genetic testing can even include pharmacogenomic results that can help some patients understand how their body processes the medicines that they take.

All of the results from these efforts help to improve the quality of life for an individual. Although many genetic tests offer probabilities, we can also proceed with certainty for conditions like PKU.

7. Genetic testing can look at your entire genome.
Some companies today are offering newer forms of genetic testing. These diagnostic tools work to analyze and decipher every known gene that carries instructions to produce proteins. This option goes through a process called whole-exome sequencing, and it can provide an effective way to see if mutations exist.

Another option with this advantage is called whole-genome sequencing. It will go through your entire genetic code to find clues that can lead to a greater understanding of your condition or disease. Then the test will look through other genomes, including ones from paying customers in the direct-to-consumer market, to see if there are any other variations of the disease to manage.

8. Even direct-to-consumer products still require a doctor’s order.
Although companies like 23andMe are expanding the opportunities to pursue genetic testing, the advanced results still require a doctor’s order to provide some results. You can receive a generalized health profile or information about your heritage, but anything specific requires these agencies to respect the privacy of your medical file. That means you have some layers of privacy that protect you from casual public probes of genetic data. Even if someone can access your information, most databases keep it anonymous so that no one knows they’re looking at your data.

List of the Disadvantages of Genetic Testing

1. The tests can be costly for most patients.
The price of a genetic test can range from several hundred dollars to a few thousand dollars. Although the cost is still cheaper than it used to be for most conditions, a majority of health insurance agencies treat this tool as an elective option. That means there isn’t any coverage for it in most policies. Since most households are already struggling to get enough money in savings to cover basic emergencies, covering the price of this diagnostic resource just isn’t in their budget at the moment.

2. Results from genetic tests can trigger emotional reactions.
A great sense of apprehension often exists when individuals decide to go through with genetic testing. Even when there is a family history of certain conditions, the 50/50 nature of receiving DNA from your parents doesn’t mean that you’re guaranteed to have a specific result. Individual mutations can also impact the results.

Some people can feel a deep sense of relief when they find out that a gene mutation isn’t present in their profile. When someone discovers they are a carrier, then there is comfort in knowing that there is more control over future outcomes. It can also be the spark of profound guilt and shame, creating the need to make difficult decisions immediately.

3. Genetic testing doesn’t offer a full-body health review.
The tests for genetic issues are highly targeted. Doctors aren’t going to start screening for every potential health issue that might exist. Decisions get made based on the family history of the patient and any specific symptoms they might experience. That means someone with a history of heart disease in their family probably won’t receive a recommendation to become a candidate for BRCA1 or BRCA2 testing to determine what their risks of breast cancer would be.

Some population groups are candidates automatically because of the genetic history of their culture. If you come from a small ethnic group, your doctor might recommend specific tests to determine what your individual risk factors might be.

4. Not everyone is eligible for genetic testing.
The average person doesn’t automatically qualify to become a candidate for genetic testing. You must have a close family relative who isn’t a spouse affected by a disorder or disease already. That affected person usually must have a genetic test on record that shows positive results before doctors will proceed with other relatives. Everyone has approximately ten altered or non-working genes in their profile, so the clinical and family history is essential when deciding where to focus one’s attention.

5. You may not receive a clear result from the test.
Not all clinical tests that look at genes can take a specific snapshot of a patient at a specific time. That makes it a different approach when compared to most other laboratory tests that are available from a medical perspective. Many of the results are predictive, which means your answer isn’t a clear “yes” or “no” when the results come back. What you’ll receive is an estimation of the chances that you’ll develop a specific condition related to your genetic profile.

That means the lack of definition can leave some patients wondering what they can do with their results. Some conditions have very few therapies or available treatments that can limit the course of the disease. A patient might also receive a 50/50 result that leaves them with as much uncertainty as when they started.

6. Discrimination laws don’t apply to some employers.
The Genetic Information Nondiscrimination Act does not apply to an employer with fewer than 15 workers in the United States. It doesn’t apply to individuals serving in the military either. Some privacy laws can have specific stipulations that require the disclosure of genetic information if it is known.

Although state and federal laws do a reasonably good job in the protection of medical information, it will not protect every person in each situation.

7. Test results could get put into databases outside of your personal control.
One of the ways that direct-to-consumer tests are becoming more affordable is through the sale of personal information. When you send in DNA to get tested, the results can go into a database that the organizing company can use at their discretion. That’s why tests are still best done through doctors because the information will become part of your medical file.

Although it can be helpful to see if you have an increased risk for certain cancers or conditions, you might be paying for something that provides you with murky results. If you get something uncertain, then you might not know how to approach a conversation with your doctor.


Many of the disorders that a person encounters during their life involve an interaction between their genes and the environment. The way in which these interactions occur to create specific disorders is not entirely understood right now by medical science. Genetic testing cannot predict what the results of this relationship will be. Someone with risk factors for type 2 diabetes, Alzheimer’s disease, or coronary heart disease may develop a condition that someone else doesn’t despite having similar results occur.

If you have any concerns regarding your health, then a conversation with your doctor is an easy way to set your mind at ease. Although some testing products are available over-the-counter, the processes that provide complete results must usually come from an order by your attending medical professional.

The advantages and disadvantages of genetic testing can be complex. Each patient faces a unique set of challenges to balance. If you have family members who have already presented with positive results, then it may be wise to pursue this diagnostic tool. You’ll want to check with your

About the Author
Brandon Miller has a B.A. from the University of Texas at Austin. He is a seasoned writer who has written over one hundred articles, which have been read by over 500,000 people. If you have any comments or concerns about this blog post, then please contact the Green Garage team here.