Every single one of your cells contains chromosomes, which in turn are made of chemical strands which carry the genetic information that encodes the proteins that make you who you are. Those chemical strands are known as DNA and define everything: from the color of your eyes to whether you can twist your tongue vertically, and the likelihood of you to suffer from a variety of inherited or genetic diseases. Genetic testing looks for mutations on DNA that define genetic conditions or increase the risk of developing a disease such as breast cancer, for example.

Genetic testing has been available from healthcare professionals for many years, but nowadays evolving technology has enabled consumers to purchase “DIY” gene testing packs. Those packs include a way for the customer to send a sample of their DNA (Usually via a cotton swab that takes cells from the inside of the mouth) and get it analysed and interpreted at a lab. A traditional gene test ordered by your doctor will look for only particular mutations the doctor sees as relevant based on your family history and health, and are much more specific and accurate. On the other hand, commercial genetic testing looks at broad areas of DNA to find markers that could signal a higher likelihood of suffering from particular diseases.

Limitations Of Genetic Testing

Back in the day, it was common belief among the scientific community that each gene was in charge of a particular human train. However, modern studies show that whether a person develops a disease has to do with many other things besides the genes. Particular genetical mutations discovered during genetic testing can show a propensity to suffer from a particular disease, but environmental and lifestyle factors will affect the final outcome as much as your genes.

For example, you could have a genetic mutation that influences your chances of suffering from a particular type of cancer, or even diabetes. However, a healthy lifestyle and regular medical testing can stop it from happening. Whereas somebody who has no genetic markers of any kind but smokes, drinks and eats large amounts of processed sugars can be more likely to develop those particular diseases than you are.

One of the biggest complaints the medical community has raised about commercial genetic testing is that they can create panic over something that has no guarantees of happening. Direct-to-consumer genetic tests can tell you that you are more likely to suffer from heart disease than somebody with a different genetic markup, but this is hardly a set in stone prophecy as it ignores lifestyle and environmental factors. This kind of test can provide you with more information about your health, and empower you to take care of your own health, but your lifestyle and where you live need to be taken into account. All that genetic tests do is discovering whether you have or not a particular risk factor for a particular disease.

Gene Testing And Personalised Medicine

Genetic testing is also being useful successfully to tailor medicine treatments based on the genetic markup of the patient. For example, mutations of the genes BRCA-1 and BRCA-2 increase a woman’s risk of developing breast cancer or ovarian cancer. If doctors believe your family history makes it likely that you suffer from those mutations, they may order a gene test for mutations on those particular genes and if said mutations are discovered then preventive treatment can be started. A famous case is Angelina Jolie who underwent a double mastectomy as a preventive measure, however other women may choose to just live a healthier lifestyle that minimises risk factors and have mammograms more often than women without the mutation.

Another form of personalised medicine is pharmacogenomics, or how to use genetic testing to evaluate the response of a particular patient to different medicines. This discipline is still in its infancy, but almost every week news on groundbreaking treatments and diagnoses that can be tailored using genetic tests appear on the news. For example, chemotherapy cancer treatment can be tailored to the genetic markup and mutations that cause some types of cancer to increase success rates.

What Else Is Genetic Testing Used For?

Commercial genetic testing can also be used to discover your ancestry and trace your family tree through time. This is useful, for example, when people are looking for their biological parents or just as a way to know more about yourself and your lineage. Some providers allow customers to be entered into a genetic database, sending alerts when people who are likely to be related join the database. This feature is particularly useful for people looking at their ancestry, or looking for biological parents.

Genetic testing has acted as an unrequited paternity test. Companies such as 23andme who are popular as direct-to-consumer genetic testing providers, have had to change their policies after cases breaching the privacy of people came to light. A common concern is that an anonymous donor may not want to be identified by their biological children 20 years down the line.

So, are DIY home genetic tests worth the money? If you are interested in knowing your ancestry, finding our where your ancestors came from or even be informed about your own health then yes, they can provide useful information. If you are looking at knowing for sure whether you will develop cancer, or other terrifying genetic disease, you’ll be better off doing everything on your power to prevent it through a healthy lifestyle. Keep in mind that if your doctor thinks that your symptoms of family history warrant genetic testing for particular conditions, they will refer you for a test.


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