Understanding a person's genome is an important part of of knowing who a person is; though the genome one can know their traits, ancestory, risks for disease, relatives, and many other intersting and scientific tidbits. When considering the risks for disease it can become increasingly important for those trying to make big life decisions.
A person may choose to undergo genetic testing for themselves for many different reasons. One of the reasons is diagnostic: testing to identify a specific condition, or preventative, identify specific gene variants to determine a person’s risk for developing a condition (National Academies of Sciences, 2017). Here we are using the genome to predict how likely it is that someone will have altered physiology from what is considered "normal". Additionally, there is reproductive genetic testing where parents can identify if a child, fetus, or embryo is at increased risk for certain genetic disease (National Academies of Sciences, 2017). Since everyone is very interested in their personal health, genetic testing has become very popular!
So how beneficial is it for a person to have their genome tested? On one hand it seems like a very good idea. If someone recieves genetic testing for a certain genetic related disease they can have better chances at diagnosis and preventative treatment (Majumder et al., 2021). Additionally, they will be able to warn their relatives to also be aware of this disease (Majumder et al., 2021). Also it has been shown that those who recieve genetic testing are giving a greater autonmoy over their health and are more liekly to meet with a provider and life healthier (Marzulla et al., 2021). This shows that genetic testing is having a postive effect on some people.
Although, there is other research that claims that genetic testing can actually be harmful to a patient. It has been shown that these tests are not always accurate and there are false positives and false negatives (Majumder et al., 2021). Additionally, genetic testing can increase behavior changes including regret, anxiety, and other physcolgical and emotional harm (Marzulla et al., 2021). And even though for some people genetic testing does make them go to their primary care doctor more the numbers are quite low; only 27% of people who are genetic tested actually share the results with a doctor (Marzulla et al., 2021). Whether or not genetic testing is more beneficial or detrimental has yet to be determined.
Majumder, M. A.,
Guerrini, C. J., & McGuire, A. L. (2021). Direct-to-Consumer Genetic
Testing: Value and Risk. Annual review of medicine, 72,
151–166. https://doi-org.dml.regis.edu/10.1146/annurev-med-070119-114727
Marzulla, T., Roberts,
J. S., DeVries, R., Koeller, D. R., Green, R. C., & Uhlmann, W. R. (2021).
Genetic counseling following direct-to consumer genetic testing: Consumer
perspectives. Journal of genetic counseling, 30(1),
329–334. https://doi-org.dml.regis.edu/10.1002/jgc4.1309
National Academies of
Sciences, Engineering, and Medicine, Health and Medicine Division, Board on
Health Care Services, Board on the Health of Select Populations, &
Committee on the Evidence Base for Genetic Testing. (2017). An Evidence
Framework for Genetic Testing. National Academies Press (US).
Very interesting post Molly! I think that this topic should be something that is talked about more. From your post, I was curious as to what causes inaccuracies through false positive and false negative results. I found an article in the Journal of the Genetics Society of America that discussed the possible sources of error within genetic testing and possible solutions to this idea. The researchers investigated how genetic testing is typically done, and what they found was that the viral packaging procedures that are implemented can cause decontamination of the DNA that is supplied to the company. Because of this, inaccuracies arise and they are often not taken into consideration when delivering results to a person. In order to combat this, they recommend a Benzonase treatment, which degrades residual DNA from the packaging procedures. As a result, the effects of contamination could be reduced, thus making genetic testing a little more accurate.
ReplyDeleteSack, L. M., Davoli, T., Qikai Xu, Li, M. Z., & Elledge, S. J. (2016). Sources of Error in Mammalian Genetic Screens. G3: Genes | Genomes | Genetics, 6(9), 2781–2790. https://doi-org.dml.regis.edu/10.1534/g3.116.030973