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Genetic Testing Overview: The Types of Tests Available and Why They Matter

Genetic Testing.

Genetic Testing.

Genetic testing is the process where genetic scientists analyze an individual’s strain of DNA to see the gene sequence or to see the protein make-up of chromosomes. Since the technology to analyze DNA is fairly new, advances in genetic testing have led to numerous tests that help patients understand important medical issues related to their genetic code.

How Advanced is Genetic Testing

In terms of history, genetic testing has come a long way. In the early 1900s, scientists had finally discovered that protein abnormalities or mutations on chromosomes were linked to numerous genetic issues. In the 1950s, it was proposed that understanding these abnormalities or mutations could help scientists screen patients and even newborns for having the potential of a genetic condition. Since the early 2000s, scientists and private organizations have developed gene screening methods that cover 2,000 health conditions linked with the genetic code.

General Diagnosis

The main diagnostic tool for geneticists is the simple diagnostic exam on a person’s genetic code. Using decades of research, scientists take a sample of genetic code and look through to see where the genes are altered. Knowing which genes are altered tells the geneticist that there is a chance that the patient has a genetic condition like cystic fibrosis or Huntington’s Disease. However, no geneticist can tell a patient or family member when the onset of a majority of these conditions will occur. It still helps a patient or family member know what to prepare for in case the patient begins exhibiting symptoms.

Predictive Testing

In contrast to diagnosis testing, predictive testing tries to see if the genetic code has signs that the person has an increased chance for a medical or health condition, not a genetic condition. What this means is that predictive testing gives a likelihood of the person becoming afflicted with a health condition, especially from lifestyle. So, for example, if a predictive test shows that the person has a high chance of getting a certain cancer or high blood pressure, the patient now has information that they can use to make certain lifestyle choices and changes to minimize their risk.

Prenatal and Newborn Screening

Two of the more revolutionary screening techniques are prenatal and newborn screening. Prenatal screening is where genetic material is taken from an embryo to be tested. Prenatal testing can help provide geneticists an estimate if the embryo is developing genetic abnormalities. A newborn screening is given to an infant to see if there are any genetic issues in their code. Each test helps prepare parents for potential health problems in the future associated with these genetic abnormalities, such as Down’s Syndrome. Associated with these two forms of testing is carrier testing. This is mostly done on people who want to become parents. The tests determine if the parent carriers a genetic abnormality. This abnormality may not actually cause  issues later in life, but it could be passed down to the fetus or their newborn if the person chooses to have a child.

Pharmacogenetic Testing

A new type of testing, pharmacogenetic testing helps to see if the patient has mutations in their codes that makes them unable to take certain medications. The test also helps to see if certain medications can help the patient over other types of medicine. This is especially worthwhile for cancer treatments, as certain drugs work better than others depending on the type of cancer and the patient’s genetic make-up.

Forensic Testing

This might be the most popular non-medical testing of the genetic code. Used by law enforcement and governments, forensic testing is a revolutionary approach to using organic samples at a crime scene, like blood, and finding out if it belongs to a criminal. Forensic testing and its accuracy has helped to not only verify a criminal’s identity, but also help free prisoners. For example, genetic testing of rape kits and blood stains from murders or assaults committed decades ago can prove the innocence of a wrongly imprisoned individual. Forensic testing has helped thousands of criminal cases and has helped thousands set free from jail due to wrongful imprisonment.

Ancestry Testing

For people interested in their family lineage, especially if they are orphans, genetic testing can show relative factors of one’s ancestry. A person’s genetic code contains proteins that show an approximate geographic location of one’s code developing. For example, people of Northern European descent may have a specific protein found only in their group of ethnicities and nationalities. Most common variables to test are the proteins found in the Y Chromosome or in the mitochondrial DNA of a human organic sample.

Factors to Take Into Account

Genetic testing, it seems, can change modern medicine as we know it. However, any analysis of a genetic code should be discussed with a genetic counselor, a professional who handles the genetic analysis of one’s code. A patient and their counselor can decide and interpret what these code results mean and make major medical decisions from these considerations.

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