Genetic Testing: Should You Be Doing It?by Punctual Abstract
Genetic testing has been described as the future of medicine, something destined to be as common as having your blood pressure checked or sticking your tongue out and saying “ahhh.” It’s little wonder why. Most diseases have some aspect influenced by, if not directly caused by, genes. Knowing more about our genetic makeup can help us make better lifestyle choices, and can help doctors make better treatment decisions.
What is genetic testing? It’s the sequencing of a person’s DNA to discover genetic differences, anomalies, or mutations.
It isn’t yet commonplace, but genetic testing is available. Here’s a quick primer so you know what your options are.
Types of Genetic Testing Available
The first direct-to-consumer (DTC) genetic test authorized to provide individuals with information about their genetic predisposition to medical diseases and conditions was approved by the FDA. The company selling the tests is 23andMe, made famous for its ancestry tests. They are currently approved by the FDA to test for the following 10 diseases:
- Parkinson’s disease
- Late-onset Alzheimer’s disease
- Celiac disease
- Alpha-1 antitrypsin deficiency
- Early-onset primary dystonia
- Factor XI deficiency
- Gaucher disease type 1
- Glucose-6-Phosphate Dehydrogenase deficiency
- Hereditary hemochromatosis
- Hereditary thrombophilia
With Healthcare Provider
There are many more genetic testing options that are available via healthcare providers. These include, according to the National Institute of Health:
- Diagnostic testing, used to identify or rule out a specific genetic or chromosomal condition.
- Carrier testing, which lets you know if you carry one copy of a gene mutation. When an individual has both copies of the mutation they will have the genetic disorder. Carrier testing is common for couples thinking about having kids.
- Predictive testing, used to identify mutations that increase an individual’s risk of developing disorders with a genetic basis, like certain forms of cancer.
One advantage to doctor-directed genetic testing — besides having the input of a healthcare provider — is that in some cases health insurance will cover the cost.
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