Exploring Genetic Testing
Hi everyone! There has been a lot of controversial discussions lately surrounding genetic testing because of the arrival of personalized medicine and its potential to determine if someone will develop a disease or not. In this blog post, I am going to be talking about what genetic testing is and the ethics surrounding it.
What is Genetic Testing?
Genetic testing is taking a sample of your DNA extracted from your blood or saliva and testing it for mutations. Some companies (23andme) use this information to make inferences about ancestry. In the clinical sense, genetic testing can be used to assess if the mutations you possess have any consequences on your health or your relatives' health.
Why is it Useful?
Genetic testing can not only be used to confirm or rule out a diagnosis but also can help identify the potential origins of some of the rarest genetic conditions. Genetic testing can be used to determine someone's risk of developing a disease. While it's not possible to change the genetic risk to something, anticipating the possibility of a condition can give people a reason to take steps to reduce the influence of environmental factors on their health. For example, a person may be predisposed to lung cancer but whether or not they smoke contributes to his or her overall risk. The results of genetic testing can also encourage regular screening so that a disease can be treated and diagnosed at an earlier stage.
The data obtained from genetic testing can also be used to inform treatment. As a result, a new field of medicine called pharmacogenomics has been created and cancer management has greatly improved. With the knowledge gained by analyzing a person's DNA, it is possible that this information can be used to tailor healthcare to your personal genome.
Below is an infographic explaining other things genetic tests can be used for.
Genetic Testing and Ethics
While seemingly useful, genetic testing can be the source of many ethical debates. For example, consider the following case study.
Case Study: Jennifer is a 28 year old woman who has a family history of muscular dystrophy and is considering undergoing genetic screening to see if she a carrier of any genes associated with the disease. Jodie's DNA is extracted from the blood sample she gave the geneticists, and it's found that she is not a carrier of any of the gene variants associated with muscular dystrophy. However, the person analyzing the DNA also checks for other common disease-associated variants and discovers that Jennifer has a mutation in her DNA that puts her at a greater risk of developing breast cancer.
Many ethical issues are raised by this case study. Jennifer doesn't currently have any variants associated with muscular dystrophy. Some rare forms of muscular dystrophy are caused by mutations that are yet to be identified. If they are identified in the future and Jennifer does have a mutation, should she be recontacted?
Jennifer's mutation means that she's at risk for developing breast cancer. However, this doesn't mean that she will develop the disease in the future, and it wasn't related to her primary goal of testing. Does Jennifer's physician have a responsibility to inform Jennifer about her breast cancer risk? Should the possibility of additional findings be raised too?
This case study only highlights a small sample of some of the ethical issues arising from genetic testing. I will link more case studies and more information about the ethics of genetic testing below.
I hope you have gained a better knowledge of what genetic testing is, what it's used for, and the ethical dilemmas involved. Genetic testing is a very controversial topic, and I encourage you to do further discussion on it with your friends and family. Thank you for reading!
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