Genetic Testing

About Genetic testing

Genetic testing involves the examination of your DNA, the chemical database that carries instructions for your body’s functions. This process can unveil changes (mutations) in your genes that may lead to illness or disease.

While genetic testing is valuable for diagnosing, treating, and preventing illnesses, it has its limitations. For instance, a positive result for a healthy person does not guarantee the development of a disease, and a negative result does not ensure the absence of a specific disorder.

In cases where genetic testing doesn’t provide a diagnosis, but a genetic cause is suspected, some facilities offer genome sequencing. This process analyzes a sample of DNA taken from your blood. Everyone possesses a unique genome, composed of the DNA in all of a person’s genes. Genome sequencing, often limited to the protein encoding parts of DNA called the exome, helps identify genetic variants related to your health.

Genetic Testing serves various purposes including:

  1. Diagnostic Testing: Used when symptoms suggest a disease caused by genetic changes, this test confirms or rules out the suspected disorder. Examples include confirming diagnosis of cystic fibrosis or Huntington’s disease.
  2. Pre-symptomatic and predictive testing: If there is a family history of a genetic condition, this test determines if you are at risk of developing the disease before symptoms appear.
  3. Carrier Testing: This is advised for individuals with a family history of a genetic disorder or those in an ethnic group with a high risk, this test helps identify a carriers for specific genetic conditions.
  4. Pharmacogenetics: Beneficial or those with a health condition or disease, this helps determine the most effective mediation and dosage for personalized treatment.
  5. Prenatal testing: Conducted during pregnancy to help detect certain genetic abnormalities in the baby’s gene. This can include screening for Down Syndrome, and trisomy 18 syndrome through traditional markers in blood or newer cell-free DNA testing.
  6. Newborn screening: Mandated in the USA, this common genetic testing type detects genetic and metabolic abnormalities in newborns, enabling prompt initiation of care and treatment.
  7. Preimplantation testing: Employed during in vitro fertilization attempts, this test screens embryos for genetic abnormalities before implantation in the uterus.

Genetic testing plays a crucial role in assessing disease risk, guiding treatment decisions, and informing reproductive choices. Understanding the various types of genetic testing and their applications empowers individuals to make informed healthcare decisions tailored to their unique genetic makeup.