2016-11-17



Personalized medicine is gaining traction with individuals and doctors. In an effort to provide patients with medicines tailored to them, the field of genetic testing is becoming increasingly popularized. That said, there are three methods of genetic testing that individuals can undergo. Delving deeper, there are different types of testing that can provide individuals with more information about their inherited genes and chromosomes.

For some, genetic testing can be a useful tool in understanding their inherited genetic disorder and help them make lifestyle decisions based on that information. In other cases, genetic testing can help doctors and researchers further their knowledge of what makes up a disease, hopefully resulting in helping patients further down the line. In either case, here is a brief overview of the types of tests available.



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Carrier testing

Carrier testing is used to identify individuals who ‘carry’ a mutation in a gene that is linked to disease. While a carrier may not show signs of the disease, they can pass that gene onto their children who then become carriers, or in other cases, develop the disease. Genome.gov explains that some diseases require a gene change to be passed along from both parents.

Carrier testing is offered to individuals who have a family history of a specific disease or are predisposed for a specific inherited disease.

Diagnostic testing

The National Institute of Health’s Genetics Home Reference (GHR) outlines diagnostic testing as being used to identify or rule out specific genetic or chromosomal conditions. Diagnostic tests are used to confirm a diagnosis when a condition is suspected based on physical signs and symptoms.

Diagnostic genetic testing can occur before birth or at any point in an individual’s life, however, GHR notes it is not available for all conditions. Results from diagnostic testing can influence an individual’s choices about their health and the management of a disorder.

Forensic testing

Typically used for legal purposes, forensic testing uses DNA sequences to identify an individual for legal purposes, or to establish biological relationships between people.



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Newborn screening

This type of screening is done after birth in order to identify genetic disorders that can be treated in early life.

Pharmacogenomic testing

Pharmacogenomic testing aids in providing information about how certain medicines are processed by an individual’s body. That’s particularly important as personalized medicine gains popularity. Pharmacogenomic testing can be beneficial in helping doctors understand which type of medicines work with an individual’s genetic make up.

Predictive and presymptomatic testing

Predictive and presymptomatic testing is used to detect gene mutations that are associated with disorders that appear after birth or later in life. Like carrier testing, these tests can be helpful to individuals who have a family member with a genetic disorder, but who themselves have no features of the disorder at the time of testing.

GHR explains that predictive testing can identify mutations that increase a person’s risk of developing disorders with a genetic basis—such as cancer.

Meanwhile, presymptomatic tests can determine if a person will develop a genetic disorder before they exhibit any symptoms.

Preimplantation testing

Used to detect genetic changes in embryos that were created using assisted reproductive techniques like in-vitro fertilization, preimplantation testing aims to reduce the risk of having a child born with a serious illness.

This sort of screening involves evaluating the DNA of eggs or embryos to check for genetic risk factors. The results determine which embryo will be implanted in the womb. As such, preimplantation testing can increase the chances of a successful pregnancy. It also reduces the risk that the child will have a genetic disorder.

Preimplantation screening can be quite controversial due to its potential eugenic implications. It is heavily regulated in most countries.

Prenatal testing

Prenatal testing is available to individuals during pregnancy to help identify fetuses that have certain diseases.

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Research genetic testing

This type of testing is used in order for researchers to learn more about what how genes contribute to health and disease. Research testing can be helpful in helping scientists expand their knowledge base.

This is an updated version of an article originally published on Life Science Investing News on April 21, 2016.

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Securities Disclosure: I, Vivien Diniz, hold no direct investment interest in any company mentioned in this article.

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