Genetic Testing

#genetictesting #DNA #geneticmutations #genes #hereditary #chromosomes #genotype #karyotyping #inheriteddisease

One of the best things about being a professor is getting to meet new people every semester. I met Jozie a few semesters ago. What I realized quickly is that she is hard working. I now know she works and goes to school full time. Definitely not an easy task.

A classic game that I believe most people have played is called “Would you rather?” In this game, a player is given a choice between two difficult options and forced to choose one. So, here is mine to you:

Would you rather live your life knowing you carry a gene that can likely cause you to develop a detrimental illness?

-Or-

Would you rather not know until the moment this possible illness actually develops?

For some people this may be a knee jerk answer and for others, it may take them a moment to weigh the pros and cons. For those who need a few minutes, I am going to address how these decisions are real-life possibilities with the use of genetic testing. Currently, medical professionals are able to use genetic testing to reveal mutations in a patient’s genes that may lead to serious illness or disease.

The first step in the genetic testing process is to visit your doctor so that they can collect a sample, such as blood, saliva, skin, or fluid from around the baby during a pregnancy. This sample is then sent to a lab so they can obtain your DNA from the sample. They will then sequence the DNA in order to look for variants in the DNA. The DNA is analyzed with the use of a computer that reads all of your DNA together in the correct order. To decide which variant causes the disease of interest, medical staff will look at your DNA analysis results, your symptoms, and family history. Depending on the results, more testing may need to be done for confirmations. A few reasons why they may not be able to find the cause of a disease within your DNA is: some parts of the DNA cannot be sequenced, not enough is known about the disease at this time, the test that was performed did not look at the part of your DNA that is causing the disease, and a different test needs to be ordered or, the analysis team was not given enough information about your symptoms or family history to interpret the results. The following infographic explains genetic testing in more detail.

Figure 1. Genetic Testing Infographic: An overview of what genetic testing is and how it is used along with information about the hereditary aspects of DNA.

It’s important to remember my “Would You Rather” question is a real-life choice and that both of those choices are very much possible. Genetic testing is controversial among many people, especially when deciphering the procedure through a religious aspect.

In my opinion, I believe that genetic testing can be a remarkable resource in the medical field, on a case by case basis. The patients who are offered genetic testing, for whatever reason, may have a life changing decision to make and need to be fully aware of what they are becoming involved with.

While the physical risks associated with genetic testing are very minimal, many of the risk involves the emotional, social, or financial consequences. People may feel angry, depressed, anxious, or guilty about their results. In some cases, genetic testing creates tension within a family because the results can reveal information about other family members in addition to the person who is tested. The possibility of genetic discrimination in employment or insurance is also a concern.

Having the opportunity to know that you have a gene that may make you prone to illness can allow for early treatment and possible prevention, but depending on the person, I think that this could also lead some people to develop mental health issues. Therefore, it’s important to think: is it worth risking your mental stability just to know that you have a genetic mutation when in the end this mutation may never physically impact your health?

My point is that there is no definite right or wrong answer when it comes to debating genetic testing. Some may find carrier testing appropriate while believing that prenatal testing should not exist. Each individual has their own methods for decision making. For me, I would have to include both my healthcare experience and knowledge along with spiritual guidance to make a life changing decision such as genetic testing. For you, well, I already asked.