Genetics 101 Understanding Genetic Testing And Why Is It Done?

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geneticsFrom understanding your genetic makeup and DNA to specific disease diagnoses, modern day genetic testing has come a long way with the breakthroughs in medical and technological advances. Genetic Counselor Sonika Sachanandani-Phulwani at Matar & Rosset Healthcare
Solutions explains further…

What Is Genetic Testing?


Genetic testing uses laboratory methods to look at your genes, which are DNA instructions you inherit from your mother and your father. Genetic tests may be used to identify increased risk of health problems, to choose treatments or to assess response to treatments.

Why Might I Consider a Genetic Test? 
There are many reasons to consider getting a genetic test. For example, you might decide to undergo a genetic test if you:

  • Have signs of a disease.
  • Think you may have an increased risk to get a disease in  the future.
  • Think you might pass a disease on to your children.
  • Are pregnant and want your fetus to be tested.
  • To predict response to therapy.

What Can I Learn About My Health From Genetic Testing?

The results of your genetic testing may help to:

  • Diagnose a disease
  • Find gene changes responsible for an already diagnosed disease
  • Assess how severe a disease might be
  • Guide towards a selection of medicines and other treatments
  • Find gene changes that increase risk of developing a disease
  • Find gene changes that could be passed on to children

How Is Genetic Testing Done?

Genetic tests are done on a small sample of tissue from your body. These tissues may include:

  • Blood
  • Cells swabbed from inside your
  • mouth
  • Saliva
  • Hair
  • Skin
  • Tumors, or the fluid that surrounds a fetus during pregnancy

The sample is collected by your healthcare provider and sent to a laboratory that tests it for certain changes in your DNA. The lab usually gives the test results in writing to your healthcare provider/genetic counselor, who then discuss them with you.

What Are The Different Types of Genetic Tests?

Carrier testing: is used to find people who “carry” a change in a gene that is linked to disease. Carriers may show no signs of the disease. However, carriers can pass on the gene change to their children, who may develop the disease or become carriers themselves. For example, in the case of thalassemia or sick-cell anemia.

This type of testing is usually offered to people who have a family history of a specific inherited disease or couples who are related by blood.

Prenatal testing: is offered during pregnancy to help identify fetuses that have certain diseases.

Newborn Screening: is used to test babies 1-2 days after birth to find out if they have certain diseases known to cause problems with health and development. For example, in the case of G6PD or Cystic Fibrosis.

Diagnostic testing: is used to precisely identify the disease that is making a person ill. The results of a diagnostic test may help you make
choices about how to treat or manage your health problems, for example in the case of Down Syndrome.

Predictive and pre-symptomatic testing: is used to find gene changes that increase a person’s likelihood of developing diseases.
The results of these tests provide you with information about your risk of developing a specific disease. Such information may be useful in
decisions about your lifestyle and healthcare; for example, in the case of breast cancer or Alzheimer’s disease.

Pharmacogenomic testing: gives information about how certain medicines are processed by an individual’s body. This type of testing
can help your healthcare provider choose the medicines that work best with your genetic make-up. For example, Tamoxifen for BRCA mutations.

What Are Some Questions To Ask When Considering A Genetic Test?

If you are trying to decide whether or not to undergo a genetic test, some questions you may want to ask are:

  • Are there any ways to prevent or treat the disease for which I’m being tested?
  • What safeguards are there to protect the privacy of my test results, especially from insurers and employers?
  • Will my health insurance cover the cost of the test?

Who Can Help Me Understand Genetic Testing and Whether I Need to be Tested?

Your healthcare provider or genetic counselor can help you understand genetic testing and assess whether you need to get testing by taking
a family and medical history.

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