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Genetic Testing: Benefits, Risks and the Future

What is Genetic Testing? 


Genetic testing has become the cornerstone of healthcare over the past year — and for all the good reasons. However, there are many factors involved that you should have clear information about before you go ahead with testing.

This article will cover the advantages, disadvantages, and risks of genetic testing along with its future implications. Let’s dive in!

What is Genetic Testing? 

Genetic testing is a medical test that looks at the changes in genes, proteins, and chromosomes. The results sn find out the suspected or potential genetic condition. The test helps determine a person’s chance of developing a specific disease.

What is the Procedure for Genetic Testing? 

The procedure for genetic testing is straightforward. It starts with a counseling session. After contemplating the test procedure, risk factors, and cost, you must sign the consent agreement. It contains the following information:

  • The pros and cons of you having a genetic test.
  • The potential outcomes of your test and what that will apply to future treatment.
  • If the test indicates that you are affected by a severe health condition, how your family members may be involved.
  • What’s the risk of getting a genetic disorder from your parents or passing on a health condition to your children?
  • How it affects your child with an inherited health condition, and you do not want your next child to inherit it.

Once the counseling is done, you can get connected with Society for Genetic Medicine in your city if you need further support. 

If you decide not to do a genetic test, your doctor might prescribe other health care treatment. But if you decide on doing the testing, you will be prescribed to the lab. Genetic testing is done by taking blood, tissues, or saliva samples.

The lab gets the DNA from the sample and runs a series of tests, including sequencing and analyzing the gene variants. Finally, the team of experts interprets the result and sends it to your doctor.

At this stage, your doctor is responsible for explaining the result or any other question you will have, and then followed by the negative or positive outcome, treatment begins. 

Types of Genetic Tests 

There are varieties of genetic testing for different kinds of health issues. The type of gene test you get recommended is based on individual health and family medical history and what condition or health risk you have shown symptoms of.

There are usually three categories of genetic tests:

1- Single Gene Testing

The test that only looks at one gene is called single-gene testing. Single gene testing is run if you have symptoms such as sickle cell disease or Duchene muscular dystrophy. Single gene testing helps find genes mutations in a family as well.

2- Panel Testing 

Panel testing is used to test more than one gene in a single test. It also has categories for people with different medical issues, including muscle tone, epilepsy, or short stature. 

Panel testing is also aids in finding severe diseases such as breast cancer or colorectal colon cancer.

3- Large Scale Genetic or Genomic Testing

Large scale testing has two sub kinds:

  1. Exome sequencing looks at all the genes in the DNA (whole exome) or just the genes related to medical conditions (clinical exome).
  2. Genome sequencing is the most extensive genetic test and looks at all of a person’s DNA, not just the genes.

After deciding which category you fit into, the doctor can recommend a genetic test based on your health condition. Here are seven main types of genetic testing:

  1. Diagnostic testing
  2. Newborn screening
  3. Pharmacogenetics
  4. Prenatal testing
  5. Carrier testing
  6. Preimplantation testing
  7. Presymptomatic and predictive testing

Types of Genetic Test Results 

The result of genetic testing can be of three types that shape the next step of treatment:

1- Positive: 

A positive result shows that you have a risk of certain genetic diseases. The next step is to start treatment to prevent the potential disease.

2- Negative: 

Not finding the risk of disease does not mean you can never develop the condition in the future. Only when the person didn’t inherit the same gene that causes the disorder in a parent can it be more reliable that the person will not get the disease. Otherwise, the best thing is to take preventive measures o to avoid developing the disease in the future. 

3- Uncertain: 

When insufficient information on a specific gene variant, the doctor declares the result uncertain, leading to some confusion. Still, again the right thing is to adopt therapeutic measures to prevent the disease anyway.

7 Diseases You Can Learn About from a Genetic Test

Seven types of disease that you can learn about from getting a genetic testing result are:

1- Parkinson’s Disease

About 50 variants of the LRRK2 gene are directly associated with Parkinson’s disease.

There’s a 28% chance of developing PD if the test finds that the child has inherited one mutation G20195 from either of the parents.

2- Breast and Ovarian Cancer

According to the National Cancer Institute (NCI), females with a mutation in BRCA genes are more likely to develop the disease. Genetic testing can look at specific gene mutations to prevent the condition beforehand. 

3- Celiac Disease

Celiac disease is an autoimmune condition when gluten from your diet attacks the intestine tissues and causes diarrhea. There are no apparent symptoms, but people with parents or siblings having Celiac disease are more likely to develop it. 

4- Psoriasis

Gene variants called HLA-C and seven other DNA variants cause psoriasis. Getting a test can identify the risk of disease before T-cells attack skin and cause symptoms. 

5- Age-related Macular Degeneration (AMD)

People who are siblings with AMD are more at danger of developing the disease. 

The test looks at ABCR genes that influence AMD.

6- Bipolar Disorder

Gene mutation on chromosomes doubles the risk of developing bipolar disease. Genetic testing is essential as it looks at this gene variant. 

7- Obesity

A high level of the FTO gene in fatty tissue is linked with fat tissues rather than muscles tissues, leading to an almost 7-pound weight difference in individuals. There are not enough studies that show how many genes influence obesity. However, it is considered to be about an 84% chance of obesity linked to inherited genes. 

Benefits of Genetic Testing

Genetic testing is essential as it removes uncertainty and influences people to make the right decisions for their health. The benefits of genetic testing include:

  • Discovering the potential risk or cause of disease
  • Allow you to start early treatment if you find a positive result.
  • Remove the stress and anxiety once the result comes out.
  • Allow you to make a more meaningful health decision.
  • Protect the newborn from potential danger that might influence the fetus genes if not taken care of at the right time.
  • Allow you to learn more about heredity and family history.
  • It can be helpful about finding the father or taking custody of a child. 

Definitely, genetic testing is a good idea.

What Are Some Risks Associated with Genetic Testing? 

There is no denying, in fact, the importance and benefit of getting genetic testing done. However, most of the time, it proves helpful to aid future disease; it only causes a severe mental disturbance, including anxiety and stress. 

Some of the psychological and financial risks that you might consider before getting the test done are:

  • You may experience stress and anxiety if your results are unclear or inconclusive.
  • Relationships with family, friends, and colleagues are adversely affected.
  • Testing may not be available to you if you do not meet the required criteria.
  • During amniocentesis or chorionic villus sampling done due to t parental testing, there is a small risk of miscarriage.
  • There are some privacy risks involved when you share DNA with a not-so-compatible lab or company. 

The Future of Genetic Testing 

Genetic testing is already paving the way for a better understanding of individual health. Moreover, it will have more methods in the future to perform analysis of encoded genetic features of individuals to help them cure their illness, determine future health danger, and define other medical treatment and traits. 

The genetic diagnostic tests will be assceb] more rapidly, followed by preventive interventions and genetic diagnostic tests. Also, the ethical and privacy issues surrounding genetic testing have already been addressed, so the chance of these risks in the future will be limited.

There is no doubt about genetic testing becoming the future of healthcare. However, clinicians claim that at-home approaches (genetic testing kits) are doing more harm than good. 

You only need to follow a proper clinical way of conducting genetic tests under the supremacy of reliable physicians or doctors.

FAQs: Genetic Testing

1- What are some risks of genetic testing?

Anxiety, stress, potential disease, and uncertain results are potential risks of getting genetic testing done. Moreover, for pregnant women, chorionic villus or amniocentesis sampling during the genetic test can cause danger to the fetus.

2- What is the best genetic test for health?

ToolBox Genomics and Nebula Genomics are considered the best genetic tests for health. 

3- What diseases can genetic testing find?

Bipolar disorder, obesity, Parkinson’s disease, Psoriasis, Breast and Ovarian Cancer, and Celiac are diseases found by genetic testing.

4- When is genetic testing done?

If your doctor finds symptoms or the risk of getting a particular disease, getting a genetic test can help prevent the potential disease by early treatment.

5- How expensive is genetic testing?

There is no specific or fixed amount of cost for genetic testing. The price can be range from anything between $100 and $2,000.

6- Is it possible to predict future health issues based on your genetics and heredity?

The answer is NO! Genetic testing can help find the potential disease, but no proof or study can claim that genetic testing can predict future health issues.

Conclusion: Why Should I Consider Having Genetic Testing? 

It would help if you considered having genetic testing to understand your health better. It removes the uncertainty around having or not having specific gene variants that cause health issues. Genetic testing is not a treatment, but it helps you make better decisions about your health and future. 

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