DTC Genetic Testing: Benefits and Harms

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DTC Genetic Testing: Benefits and Harms essay
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Direct-to-consumer (DTC) genetic testing refers to “at home” genetic tests sold from companies directly to their consumers with no involvement of a medical professional. These kits use consumer’s saliva to analyze single nucleotide polymorphisms (SNPs) to give information about the buyer’s genome. The market for this type of product has skyrocketed in recent years and is currently worth an estimated $140 million (Check 2017). In the past, these products have offered interested customers the ability to learn more about themselves through their DNA, such as family history and heritage, and offered and innocent sense of enjoyment to its consumers with no discernable harm to any party involved. More recently, however, companies that produce these tests have developed a very controversial medical aspect: they have began screening for diseases the user may develop based solely on the genes they possess. This may cause potential harm to its users on several levels, whether that is the intention of these companies or not. By analyzing the impact of this newfound insight on the public at the individual level, including potential medicinal and privacy issues, we can determine whether or not these tests are worth the interesting information they offer their customers.


The first issue tests such as these present is their potential harm to the consumer on the individual level. While the marketing teams of these companies promote a sense of satisfaction from learning family history through an individual’s genome, they have also begun to “sell” the idea of disease-prevention through the awareness of potential genetic susceptibilities. There certainly is a demand for genetic testing based solely on curiosity. In fact, a Canadian study found 59% of a sample considering testing to be motivated by interest, and 80% of a sample having taken to test to have gained satisfaction from it (Ries et al 2013). Thus, DTC genetic testing can provide entertainment and genuine satisfaction to consumers without harming anyone involved, when used the right way. However, the potential awareness of heritable diseases also poses as a massive motivator for many users. The vast majority of these users claimed that they would use potential risks to alter their and their children’s lifestyle, such as physical activity and diet, if they were enlightened to any susceptibility (Cherkas et al 2010). While the Canadian sample showed 59% of potential users were interested in family history, 95% of this same sample were interested in disease prevention. Also, these consumers claimed they were willing to buy more expensive tests solely for the opportunity to screen for more serious illnesses. This could also greatly benefit the individual user by encouraging better exercise and diet habits.

However, the lack of a genetic disposition for a condition such as obesity could also dissuade users from taking care of their bodies. A condition like obesity also poses a major problem, as only 5% of patients with severe obesity test for this genetic susceptibility (Wabitsch et al 2015). Therefore, the lack of genetic predisposition could actually increase the likelihood of an individual obtaining it. To determine which of these arguments was more likely to be reality, a study was performed following a population of 2240 patients for a year following the retrieval of their results and found there was no significant changes in their lifestyles, positively or negatively (Bloss et al 2013). This shows that despite claims, an individual is not likely to alter their diet or exercise habits based on genetic sequencing. However, a much more defining example of the potential consequences of these tests on the individual level is shown in the screening for the BRCA 1 and 2 genes, known to increase likelihood for breast and ovarian cancer. This screening provides several benefits. Firstly, knowledge of the individual’s predisposition for these diseases may gift the patient the ability to act pre-emptively, namely obtaining a preventative surgery such as prophylactic mastectomy or salpingo-oophorectomy to drastically reduce the chance of developing cancer. Also, even if the patient was unable to afford or otherwise unwilling to obtain these surgeries, they would be much more aware of the warning signs of these illnesses and may opt to undergo regular screening to provide early detection. This could lead to a significant increase in life expectancy.

Unfortunately, screening for these genetic possibilities may pose more harm than benefits. While these BRCA genes do provide some information about a patient’s risk-level, they do not take into account the vast environmental effects such as alcohol intake and age of menarche and menopause. This provision of potential risks without any availability of medical interpretation or advice could severely harm an individual’s mental health. One of these potential harms takes into account the lack of medical professionals involved in DTC testing. Receiving negative news about health can impact anyone’s mental wellbeing, but fortunately doctors are trained in delivering this news in a way that limits this stress and offers tactics the patient can utilize to minimize effects. DTC testing offers no bedside manner and no alternative methods to reduce risks as it’s based entirely on the individual’s genome, of which the individual obviously has no control over. Studies show that consumers receiving news of a predisposition to conditions such as Alzheimer’s disease or alcoholism have experienced negative affects on their mood and an increase in anxiety.

Additionally, several users testing for the BRCA mutation increasing risk of cancer have experienced severe anxiety, distress and insomnia (Francke et al 2013). Beyond the potential harms these tests may cause an individual, they also pose a massive privacy threat that may soon be taken advantage of by corporations across the US. While all DTC genetic testing companies claim all of their data is kept anonymous, recent research suggests this may not be possible. In the vast majority of families in the US, Y chromosomes segregate with surname (because children usually take their father’s last name).

This means that databanks can, and have, been created that are able to match the Y chromosome sequence created with a likely surname of that person. This knowledge coupled with publicly accessible data such as birth records allowed researchers to identify 50 allegedly anonymous genetic testers (Gymrek et al 2013). Using the same approach, it’s estimated that approximately 13% of users would be susceptible to this identification by submitting their DNA. This potential identification is problematic because of the obvious interest that health, life, and disability insurance companies would have in knowing the diseases and disorders an individual is more likely to develop based on their genetics.

Thankfully, health insurance companies are already barred from discriminating on a genetic basis by the Genetic Information Nondiscrimination Act of 2008 (GINA), however as of now there are no restrictions on life or disability insurance companies. While state legislations could create laws preventing this misuse of private information (such as an expansion of GINA or prohibiting a full sequence of the Y chromosome), it would be difficult to keep up with ever-changing genetic technology and loop-holes would be virtually unavoidable. GINA was presented to congress 13 years before it was actually passed, and science moves at a much faster pace.


DTC genetic testing offers a genuine sense of enjoyment and satisfaction to consumers using it purely out of curiosity, however the addition of medicinal screening poses a harm too great to make the former worthwhile. Privacy and mental health issues far outweigh the potential benefits these tests offer to the public, and unfortunately the US’ congress and privately funded healthcare system would be unable to amend the damages until well after the fact. The medical professionals DTC testing completely bypasses is absolutely detrimental to the mental health of those becoming aware of their likelihood of developing a life-threatening disease and offers no help or recommendations to assist them with this devastating news.

In addition to healthcare effects, these tests also have the potential to drastically invade the privacy of its users by inadvertently allowing insurance companies to access data on potential diseases a consumer may develop, and because they lack the utilization of any environmental influence, many people would be barred from affordable insurance because of a disease or disorder that will never come to fruition. In conclusion, DTC genetic tests are well-meaning and currently pose a net gain for the individuals purchasing them, but the future threats they pose are worth a serious re-evaluation on the information they obtain and share with the consumer and world.

DTC Genetic Testing: Benefits and Harms essay

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DTC Genetic Testing: Benefits and Harms. (2022, May 12). Retrieved from https://samploon.com/dtc-genetic-testing-benefits-and-harms/


What are the advantages and disadvantages of genetic testing?
Pros of Genetic Testing Treatment of Disease. Lifestyle Changes for Disease Prevention. Stress Release from Lack of Genetic Variants. A Negative Test Could Mask Additional Causes. A Positive Test Could Unnecessarily Increase Stress. Genetic Purgatory. Cost. Privacy Concerns.
What are the benefits of direct-to-consumer genetic testing?
DTC genetic tests sometimes reveal information that could be relevant to your family —such as a health risk that might run in the family, or that family relationships are different from what you expected.
What are the negatives of genetic testing?
Some disadvantages, or risks, that come from genetic testing can include: Testing may increase your stress and anxiety. Results in some cases may return inconclusive or uncertain. Negative impact on family and personal relationships. You might not be eligible if you do not fit certain criteria required for testing.
What does DTC mean in genetic testing?
Direct-to-consumer genetic testing provides people access to their genetic information without necessarily involving a healthcare provider or health insurance company in the process.
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