Simple (But Important) Things To Remember About Genetic Testing.

 Genetic Testing: Understanding Your DNA for Better Health

Genetic Testing:

Our cells all have 46 ( 23 pairs)chromosomes, all of which are constructed from your DNA. Each chromosome includes hundreds to thousands of genes that are small portions of DNA (deoxyribonucleic acid). Genes carry the instructions that our bodies require for producing the molecules known as proteins. Proteins help us build the structure of our bodies and get involved in many of the activities that keep us alive. The distinctions in our DNA define individuality. A gene can change or mutate, and that raises the risk of a disease or ailment. Genetic testing is like a medical test because it identifies changes in chromosomes, genes, or proteins. During any genetic test, geneticists study the DNA of a person in several ways. Any geneticist aims to learn a specific gene that causes a genetic disorder or sickness. 


Genetic Testing
Genetic Testing

What Is Genetic Testing and Why Should You Do It?

Genetic testing is studying your DNA, the biochemical database that contains instructions for your body operations, and looking for changes or mutations in your genes that may cause illness or disease. A geneticist or genetic counsellor is the proper person to guide you. A genetic test detects changes in chromosomes, genes, or proteins. Genetic tests check for minor variations in the DNA. A geneticist can identify highly active genes, inactive genes, any changes in genes, and many more. Gene tests are designed to find differences between the genes under examination and their original form.


What Is the Mission of Genetic Testing?

Your doctor may recommend a genetic test for many reasons relating to diagnosis, protection, and medication. They can also employ genetic tests in legal investigations. There are also direct-to-consumer tests that may trace your heritage.


What Does Genetic Testing Entail?

Doctors perform genetic tests by taking a sample of blood, hair, or tissues. If you are pregnant, your doctor can get a sample of your amniotic fluid or tissue from the placenta (chorionic villus sampling). They may do genetic tests before or during pregnancy to determine the likelihood of your baby having problems. Genetic testing of your DNA sequence is used to look for variations (variants) in your DNA. Variations or variants are terms used to describe genetic changes, and also they can affect the body in a variety of ways.


What Are Three Different Types of Genetic Testing?

There are three types of genetic testing, namely

  1. Molecular genetic testing or gene assays
  2. Chromosomal genetic assays
  3. Biochemical tests

DNA studies usually do tests for cancer susceptibility genes.


Genetic Testing
Genetic Testing

Who Can Get Genetic Testing?

They perform genetic testing in different ways, including: 

  • Newborn screening: Newborn screening is a procedure that takes place shortly after a baby is born to uncover genetic diseases that are addressed early in life.
  • Diagnostic testing: If a newborn or person shows symptoms that imply a genetic condition, they conduct diagnostic testing to detect or rule out that illness.
  • Carrier testing: Carrier testing is used to identify persons who have one copy of a gene mutation (a genetic alteration) that causes a hereditary disorder when two copies are present.
  • Prenatal testing: Prenatal testing is used to detect a change in the DNA of a baby before it is born.
  • Preimplantation testing: For couples at risk of having a child with a specific genetic disorder. 
  • Predictive testing: Genetic changes linked to illnesses that arise after birth, frequently later in life, get detected via predictive testing.
  • Forensic testing: DNA sequences are useful in forensic testing to identify a person for legal or criminal purposes.

What Is Genetic Testing and How Does It Work?

Doctors take a sample of blood or tissue for genetic testing. This entails drawing blood from a vein in adults and children. They can perform some genetic tests using saliva samples or a sample (swab) taken from the inside of your mouth. Amniocentesis or chorionic villus sampling can get a laboratory sample from the fetus during pregnancy.


What are the Potential Dangers of Genetic Testing?

There is no risk of physical harm from genetic testing. Testing with blood or a cheek swab is nearly risk-free. However, prenatal testing like amniocentesis or chorionic villus collection has a negligible risk of miscarriage. They have linked genetic testing to emotional, social, and financial risks. Before getting a genetic test, discuss all the risks and benefits with your doctor, a medical geneticist, or a genetic counsellor.


What Are Some Genetic Testing Strengths?

  • Genetic testing is the only approach to establish an accurate diagnosis and prevent needless clinical investigations for many illnesses.
  • Genetic testing can assist a doctor in determining the best treatment and support for a patient.
  • A firm diagnosis may be an enormous relief for patients and their families, especially if they have been looking for an answer for a long time.
  • An early diagnosis and good monitoring can save a life when it comes to some genetic illnesses (e.g., hereditary cancer diagnosed in its early stages).
  • The findings of genetic testing might be relevant for family planning in the future.

When to Meet a Doctor for Genetic Testing?


When to Meet a Doctor for Genetic Testing?
When to Meet a Doctor for Genetic Testing?

If you suspect any of the following symptoms, please contact your doctor for cancer or any inherited disorder contact your doctor immediately. 

  • Fatigue.
  • The feeling of the formation of lumps or thick areas under the skin.
  • Weight fluctuations, including unintentional loss or gain.
  • Skin changes, such as yellowing, darkening, or redness, as well as sores that do not heal or changes to existing moles.
  • alterations in bowel or bladder habits
  • Coughing that doesn't go away or breathing difficulties

Conclusion


The differences in our DNA define individuality. A gene can alter or mutate, increasing the chance of developing a disease or illness. Genetic testing is like a medical test because it detects alterations in chromosomes, genes, or proteins. Geneticists examine a person's DNA in a variety of ways during a genetic test.


FAQs


What are three potential reasons for a genetic test?

The potential reasons for conducting a genetic test are:

  • To determine a disease or a specific form of the disease.
  • To figure out what causes the disease.
  • To assess the disease's treatment options
  • To study the inheritance pattern.


Can genetic testing help doctors figure out which diseases they're looking for?

Genetic testing can help doctors identify the following diseases. 

  • Breast and ovarian cancer are two types of cancer.
  • Celiac disease is gluten intolerance.
  • Age-related macular degeneration (AMD) is a condition that affects the eyes.
  • Bipolar illness may strike males as well as women.
  • The obesity problem needs attention.
  • A neurological disorder, Parkinson's disease affects the brain.
  • Psoriasis affects people as a skin condition.


What types of genetic testing are frequent?

The frequently used forms of genetic testing are,

  • Molecular genetic tests (or gene tests) 
  • Genetic checks on the chromosomes.
  • Screening of newborns.
  • Diagnostic testing 
  • Prenatal testing is a method of determining the health of a
  • Preimplantation genetic diagnosis.


What are the potential drawbacks of genetic testing?

  • Physically, genetic tests pose little risk. Blood and cheek swab procedures are virtually risk-free. Prenatal monitoring, such as amniocentesis, carries a negligible risk of pregnancy loss (miscarriage). Emotional, social, and financial threats may be associated with genetic testing.


What are the most common genetic diseases?

  • Down syndrome is a genetic disorder in which a person is born with an extra chromosome. 
  • Thalassemia is a blood disorder characterized by low levels of oxygen-carrying protein.
  • Cystic Fibrosis is a disease that affects the lungs.
  • Tay-Sachs is a rare, inherited disorder in which nerve cells in the brain and spinal cord get destroyed.
  • Sickle Cell Anemia (SCA) is a group of diseases in which red blood cells become deformed and decompose.


Post a Comment

Please Select Embedded Mode To Show The Comment System.*

Previous Post Next Post