What’s The Value Of Genetic Testing?

What is Genetic Testing?

Genetic testing is a type of medical test that identifies changes in genes, chromosomes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder. More than 77,000 genetic tests are currently in use, and others are being developed.

Genetic testing involves looking for changes in:

• Genes: Gene tests study DNA sequences to identify variations (mutations) in genes that can cause or increase the risk of a genetic disorder. Gene tests can be narrow or large in scope, analyzing an individual DNA building block (nucleotide), one or more genes, or all of a person’s DNA (which is known as their genome).  
• Chromosomes: Chromosomal genetic tests analyze whole chromosomes or long lengths of DNA to see if there are large genetic changes, such as an extra copy of a chromosome, that cause a genetic condition.
• Proteins: Biochemical genetic tests study the amount or activity level of proteins or enzymes; abnormalities in either can indicate changes to the DNA that result in a genetic disorder.

Genetic testing is voluntary. Because testing has benefits as well as limitations and risks, the decision about whether to be tested is a personal and complex one. A geneticist or genetic counselor can help by providing information about the pros and cons of the test and discussing the social and emotional aspects of testing.

Turnkey Diagnostics offers a wide variety of genetic testing nationwide to patients and healthcare companies. They have a fast turnaround time than other independent labs as well as test for more panels of genes than their competitors. Some of the tests they offer are:

PGX Testing- Pharmacogenomics

PGX is a one-time simple oral cheek swab covered by insurance. This test can help determine if your genetics is reducing the effectiveness of the medications you are taking. Pharmacogenomics (PGx) analyzes your DNA to predict how your body will respond to all the different commonly taken medications. Our test offers a full break down of your DNA and the reasons why behind certain prescriptions being more effective and others not.

Genetic Cardiac Testing

Turnkey Diagnostics panel includes 117 genes currently known to be associated with the development of inherited cardiovascular diseases that can present as sudden death or other major adverse events.

 Cancer Genetic Testing

Turnkey Diagnostics cancer genetic testing (CGx) targets the most important genes associated with breast, colon, pancreatic, gynecological and melanoma cancers. These tests are ordered frequently by oncologists, as well as family doctors and internal medicine doctors that are primary care physicians and with patients with at-risk family histories.

Our Parkinson-Alzheimer-Dementia Testing

An accurate, timely diagnosis of a nonreversible decline in mental function is crucial to ensure a personalized and data-driven treatment plan is provided to the patient. Early-stage support can help avoid unnecessary struggles and expenses associated with missed treatment opportunities.

What do the results of genetic tests mean?

The results of genetic tests are not always straightforward, which often makes them challenging to interpret and explain. Therefore, it is important for patients and their families to ask questions about the potential meaning of genetic test results both before and after the test is performed. When interpreting test results, health care providers consider a person’s medical history, family history, and the type of genetic test that was done.

A positive test result means that the laboratory found a change in a particular gene, chromosome, or protein of interest. Depending on the purpose of the test, this result may confirm a diagnosis, indicate that a person is a carrier of a particular genetic variant, identify an increased risk of developing a disease (such as cancer), or suggest a need for further testing. Because family members have some genetic material in common, a positive test result may also have implications for certain blood relatives of the person undergoing testing. It is important to note that a positive result of a predictive or presymptomatic genetic test usually cannot establish the exact risk of developing a disorder. Also, health care providers typically cannot use a positive test result to predict the course or severity of a condition. Rarely, tests results can be false positive, which occur when results indicate an increased risk for a genetic condition when the person is unaffected.

A negative test result means that the laboratory did not find a change that is known to affect health or development in the gene, chromosome, or protein under consideration. This result can indicate that a person is not affected by a particular disorder, is not a carrier of a specific genetic variant, or does not have an increased risk of developing a certain disease. It is possible, however, that the test missed a disease-causing genetic alteration because many tests cannot detect all genetic changes that can cause a particular disorder. Further testing, or re-testing at a later date, may be required to confirm a negative result. Rarely, tests results can be false negative, which occur when the results indicate a decreased risk or a genetic condition when the person is actually affected.

In some cases, a test result might not give any useful information. This type of result is called uninformative, indeterminate, inconclusive, or ambiguous. Uninformative test results sometimes occur because everyone has common, natural variations in their DNA, called polymorphisms, that do not affect health. If a genetic test finds a change in DNA that has not been confirmed to play a role in the development of disease, known as a variant of uncertain significance (VUS or VOUS), it can be difficult to tell whether it is a natural polymorphism or a disease-causing variant. For these variants, there may not be enough scientific research to confirm or refute a disease association or the research may be conflicting. An uninformative result cannot confirm or rule out a specific diagnosis, and it cannot indicate whether a person has an increased risk of developing a disorder. In some cases, testing other affected and unaffected family members can help clarify this type of result.