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Genetic Testing Effect on People With Disabilities

Introduction

Genetic testing is a medical test that examines chromosomes, genes, or proteins for alterations. A genetic test’s results can verify or exclude a suspected genetic ailment, or they can assist in evaluating a person’s risk of getting or transmitting a genetic problem. Genetic testing also can assist in assessing a person’s likelihood of reacting to various drugs in some situations or even reveal one’s ancestry. In a genetic test, the DNA of a subject is examined, both directly or through a sample of that subject’s blood, saliva, or other tissue, to seek genetic variations linked to a higher chance of developing a disease (National Library of Medicine, 2021). Also, it may be used to identify a congenital abnormality or a person’s carrier status for various diseases. DNA sequencing, gene expression analysis, and genetic screening are a few of the procedures that may be used during genetic testing, which is frequently carried out in a laboratory environment.

One of the procedures in Genetic testing most frequently takes the form of DNA sequencing. It establishes the precise arrangement of the DNA building blocks known as nucleotides in a person’s genome. The genetic variants and mutations that could be linked to illnesses can be identified using this information (Harris et al., 2014). The sequencing procedure entails dissecting a DNA sample into smaller pieces, sequencing each piece, and then reassembling the complete sequence. Another procedure is a gene expression analysis test that examines how a person’s genes are expressed or even how active they are in the body. It may be applied to research how several genes connect or to find genetic variants that could be linked to illnesses (National Library of Medicine, 2021). Gene expression analysis collects a sample of a person’s cells, including DNA probes, to determine which genes are active. Also, a genetic screening test can be done in genetic screening to find congenital anomalies or variants in a person or family (Parens & Asch, 2003). This kind of test is frequently used to find people with particular genetic diseases or those with some genetic issues. A sample of a person’s cells is taken during genetic screening, and the genetic material is examined for certain mutations. Chromosome analysis, which looks at the structure of chromosomes, and molecular analysis, which examines the structure of DNA, are two other genetic testing methods. Genetic testing can also determine heritable features like eye or hair color in specific circumstances. Genetic testing, regardless of the type of test done, entails collecting a sample of a person’s cells and examining their genetic material again for the existence of certain mutations or variants.

All in all, genetic testing is both beneficial and consequential to people (National Library of Medicine, 2021). For instance, people with impairments and other pre-existing diseases, as well as children, can benefit from genetic testing since it can give insight into the source of the ailment or disorder, leading to further effective and targeted therapy. On the other hand, Genetic testing may result in stigmatization or prejudice against persons with disabilities, making it more difficult for them to get and pay for treatment (Crist, 2019). Due to the possibility of discovering a genetic mutation or aberration that might aggravate their current disease or cause the emergence of a new ailment, testing may cause anxiety in those with pre-existing conditions. Genetic testing may boost parental or other family members’ expectations for children to live up to specific standards according to their genetic makeup, which can damage their self-esteem.

Moreover, because genetic data can be shared and utilized in ways over which the kid has no control, it may give rise to privacy issues (Ginsburg & Rapp, 2020). Thus, for this reason, there has come a new way for carrying out genetic testing without involving a healthcare provider or health insurance company in the process called direct-to-consumer genetic tests. This paper will discuss how genetic testing disrupts societal structures by using direct-to-consumer genetic tests and how it impacts people with disabilities and other pre-existing conditions. The paper will also discuss the disability rights concerns regarding prenatal genetic testing and how expectations set up by DTC tests may affect people with learning difficulties or mental and physical disabilities.

Direct-to-consumer (DTC) genetic testing has become increasingly popular in the past ten years. Companies like 23andMe and AncestryDNA allow customers to discover more about their genetic makeup (Harris et al., 2014). There is rising worry over these tests’ ambiguity and inaccuracy, even though they can provide important information regarding prospective health concerns and family history. These tests’ outcomes could be clearer and more open to understanding. Moreover, the tests have the potential to upend societal norms by polarizing attitudes on race, families, and health (Crist, 2019). The polarization of ethnicity is the first way that DTC genetic testing might upend social systems. These tests enable people to discover information about their ancestry and ethnic heritage. This has given rise to a phenomenon known as “genetic essentialism,” in which people believe that their identity and that of others are inextricably tied to certain racial or ethnic groupings. This might result in a genetic superiority or inferiority perception, harming societal harmony and understanding.

Additionally, DTC genetic screenings can also sour connections within families. The tests might cause familial conflict since they let people understand more about their genealogy and family history (Harris et al., 2014). An individual may feel betrayed and rejected if, for instance, a DTC test reveals that they are not connected to a certain relative. Also, a test result that indicates a family history of a certain disease may result in worry and anguish. Also, DTC genetic tests can alter people’s perceptions of their bodies and health (Crist, 2019). The tests can cause people to become too preoccupied with their genetic composition since they reveal data regarding possible health hazards. Due to this, people may develop a sense of fatalism and believe that their genes dictate their health and are thus beyond their control (Harris et al., 2014). Due to their perception that improving their health is pointless, people may be discouraged from doing so.

Consequently, there are rising worries regarding the ambiguity and inaccuracy of DTC genetic testing, even though it can offer important information regarding ancestry and associated health risks (Crist, 2019). These tests may have an unsettling impact on social institutions and polarizing views on race, families, and health. As a result, people must be informed of the potential consequences of utilizing these tests and proceed cautiously.

DTC testing enables people to learn about their genetic makeup without going via a doctor. Due to their accessibility and low cost, direct-to-consumer (DTC) genetic testing has grown in popularity recently (Lee, 2020). DTC testing has important societal repercussions since it can upend pre-existing social systems and establish new ones. However, many ethical and practical issues have emerged due to the increased accessibility to testing. The specific worry is that these exams may result in more prejudice towards those with impairments and other prior problems.

The fundamental ethical issue is the possibility of discrimination against people with disabilities or other pre-existing conditions based on DTC test results on the job, in healthcare, in education, and other spheres of life. This is particularly troubling for those with pre-existing ailments since companies and other organizations could refuse services or employment based on the findings of these tests. Also, there is a chance that the data will be misused and that privacy rights may be violated (Ginsburg & Rapp, 2020). In addition to the possibility of blackmail or other types of compulsion, disseminating DTC test results to third parties may result in discrimination.

Another issue is that DTC test results might need to be more precise and trustworthy than those from a doctor’s office through the laboratory test (Crist, 2019; National Library of Medicine, 2021). DTC testing may provide people with disabilities and other prior illnesses with a false sense of confidence about how they will be treated. While these tests can provide people with insightful information about their health concerns, they may sometimes give healthcare experts the same degree of knowledge. As a result, medical professionals might need to be fully aware of a patient’s condition, which could result in subpar care and, ultimately, lower quality of life. This is particularly important for those with pre-existing diseases because if the test findings are erroneous, they cannot get the required care (Zakalik et al., 2012). Also, because people could doubt the veracity or dependability of the results, the exams might cause unneeded concern and tension.

DTC testing may provide patients with impairments and other prior problems with a false sense of security about access to healthcare. For instance, people who have done DTC testing to learn about their possible health concerns could think that their insurance covers them or that their insurance company will pay for any prior problems. This is frequently not the case, though, as insurance companies may not pay for the price of these testing and may refuse to cover particular prior diseases.

Nevertheless, the same technology that gives people useful information about their lineage, familial connections, and health concerns may also polarize attitudes toward ethnicity, family ties, and health (Lee, 2020). This is because DTC genetic testing might give a person a false sense of safety regarding their identity and health condition by giving them a more accurate image of their ethnic heritage and associated health concerns. DTC testing can cause conflict and misunderstanding within a family since they frequently demand people base judgments about their familial links on the results (Ginsburg & Rapp, 2020).

DTC genetic testing has a chance to be helpful overall, but there are also a few moral and practical issues that need to be considered. Also, DTC genetic testing can give a person important information about their ancestry, family history, and health concerns. Particular consideration must be given to the possibility of discrimination against those with pre-existing conditions. The potential for information abuse and erroneous outcomes is also present. Thus, ensuring enough protections are in place to shield people from potential prejudice and data exploitation is critical. When deciding to undertake DTC testing, it is also critical to ensure that an expert informs people of the advantages and potential hazards of doing so.

The number of people choosing to have their unborn child examined for genetic abnormalities has increased as prenatal genetic testing has been more commonly accessible as a direct-to-consumer service (Parens & Asch, 2003). While this type of testing has the possibility of preventing fatalities and can offer vital information to expectant parents, it also raises significant issues for those who support disability rights (Schwartz, 2018). Although prenatal genetic testing might become less expensive and complicated because to direct-to-consumer (DTC) genetic tests, these tests have received a different amount of research than those used by doctors (Parens & Asch, 2003). These tests run the danger of being unreliable or deceptive, resulting in false medical diagnoses or pointless medical procedures (Crist, 2019). Additionally, DTC testing is usually governed by different rules than professional examinations, raising the possibility that they are not trustworthy.

Furthermore, the freedom to make decisions regarding one’s body is a matter of ethics raised by the availability of DTC genetic testing. Disability rights activists contend that a woman should decide whether to end her pregnancy dependent on prenatal genetic testing, not a physician or a business. They contend that a firm should not dictate a patient’s treatment choice based on its ideals.

Also, widely available DTC genetic testing adds to concerns that they can be used to reinforce unfavorable preconceptions about people with disabilities. If the test findings reveal that the fetus has a handicap, expectant parents can be pressured to end the pregnancy (Schwartz et al., 2018). This might be harmful to the disability community since it can result in fewer persons with disabilities in the population and stigmatization of those who have impairments.

DTC genetic tests can also make it harder for impaired people to receive services. Fewer resources may be available to individuals with impairments when the population’s proportion of people with disabilities declines (Parens & Asch, 2003). This may prevent people with disabilities from getting the education, jobs, and healthcare they need.

Last but not least, DTC genetic testing could result in a decline in the acceptability of people with impairments (Ginsburg & Rapp, 2020). People may become less tolerant of persons with impairments as the population of people with disabilities grows less, which might result in more marginalization and discrimination.

Thus, while DTC genetic testing may potentially give expectant parents useful information, they also cause major worry for activists for disabled rights. These assessments can spread unfavorable preconceptions about disability, resulting in incorrect diagnoses and untimely medical procedures. Moreover, it can reduce access to services and acceptance of people with disabilities. When choosing DTC genetic testing, expectant parents should be informed of these potential hazards.

While DTC genetic testing offers valuable information to aid people in making well-informed health-related decisions, they also risk creating unreasonable expectations for those with learning challenges and mental and physical disabilities and their families. DTC testing has the potential to offer rapid and simple access to genetic data, enabling people to base significant healthcare decisions on the findings (Turrini, 2018). However, most of these tests are incomplete, and the interpretation of the findings is frequently restricted. This may provide people with learning disabilities and other physical and mental impairments a misleading sense of safety and give them a chance to make judgments based on insufficient knowledge (Au, 2022). Moreover, DTC testing cannot give enough context to understand the results, allowing the person to speculate about their possible health concerns.

DTC tests may also cause individuals with disabilities to have irrational expectations about the ability of genetic testing to detect an illness or forecast future health consequences (Zakalik et al., 2012). Genetic testing is only sometimes utilized to diagnose a disease, even though it might help identify possible risk factors (Turrini, 2018). Additionally, it is challenging to foresee the long-term consequences of any particular genetic modification. Those who may have anticipated more information from the test findings may need clarification and clarification as a result of this.

Last but not least, DTC exams may be emotionally demanding for people and their families, particularly those with learning challenges and mental and physical impairments. The findings may illuminate potential health problems, sparking concerns about the person’s future and forcing unpleasant dialogues (Zakalik et al., 2012). Families could have more questions than answers as a consequence of the DTC data’ restricted interpretation, which can be stressful and worrying (Au, 2022).

DTC testing can be a helpful resource for assisting people in making knowledgeable decisions about their healthcare, but it can also result in irrational expectations and challenging discussions. People with learning challenges, mental health issues, and physical impairments must be aware of the limits of these tests and ready to go through the results with a healthcare provider. DTC testing can help people and their families make educated decisions about their health if they are given the proper information and assistance.

DTC genetic testing has become popular among those with disabilities because it is easy and convenient (National Library of Medicine, 2021). A doctor’s visit is no longer necessary because of the rapid growth of technology, which allows people to test for various genetic illnesses without leaving the comfort of their homes. According to the National Library of Medicine (2021), DTC testing can offer more information about a person’s health, enabling them to manage their disease more actively.

However, the validity of DTC genetic testing is still up for discussion. While some contend it is trustworthy and economical, others advise against using it since the results might not be as accurate as tests conducted by qualified medical specialists (National Library of Medicine, 2021). Also, there may be moral conundrums associated with employing DTC genetic testing. For instance, people could get findings that are challenging to understand or raise troubling health concerns. Generally, DTC genetic testing can be helpful for people with disabilities, but it is important to weigh the dangers and ethical issues involved. Before deciding to proceed with any genetic testing, it is crucial to conduct an extensive study on the different tests and consult with a medical expert.

Conclusion

The lives of persons with disabilities and other pre-existing conditions have significantly improved due to the application of DTC genetic testing. The advantages of DTC genetic testing are clear, but it has also upended established societal institutions, including privacy regulations, healthcare delivery, and ethical issues. DTC genetic testing has sparked concerns regarding the availability of genetic counseling, access to genetic tests, and the effects of sharing medical data. Moreover, the precision of genetic tests can occasionally be unreliable, and it can be challenging and extremely subjective to interpret test findings. To ensure the proper use of DTC genetic testing and its benefits to society, it is crucial to consider its ramifications on a range of levels and also advice from a certified expert.

References

Au, L. (2022). Testing the talented child: Direct-to-consumer genetic talent tests in China. Public Understanding of Science, 31(2), 195-210.

Crist, C. (2019, October 25). Direct-to-consumer genetic test results may be unreliable. Retrieved April 3, 2023, from https://www.reuters.com/article/us-health-genetic-tests-idUSKBN1X42EI

Dohany, L., Gustafson, S., Ducaine, W., & Zakalik, D. (2012). Psychological distress with direct-to-consumer genetic testing: a case report of an unexpected BRCA positive test result. Journal of Genetic Counseling, 21, 399-401.

Ginsburg, F., & Rapp, R. (2020). Disability/anthropology: rethinking the parameters of the human: an introduction to supplement 21. Current Anthropology, 61(S21), S4-S15.

Harris, A., Kelly, S. E., & Wyatt, S. (2014). Autobiologies on YouTube: narratives of direct-to-consumer genetic testing. New genetics and society, 33(1), 60-78.

Lee, S. S. J. (2020). Excavating the personal genome: The good biocitizen in the age of precision health. Hastings Center Report, 50, S54-S61.

National Library of Medicine. (2021, June 11). Genetic testing. Retrieved April 3, 2023, from https://medlineplus.gov/genetictesting.html#:~:text=How%20is%20genetic%20testing%20done,is%20sent%20to%20a%20laboratory.

National Library of Medicine. (2021, June 01). What are the benefits and risks of direct-to-consumer genetic testing?: Medlineplus Genetics. Retrieved April 3, 2023, from https://medlineplus.gov/genetics/understanding/dtcgenetictesting/dtcrisksbenefits/

Parens, E., & Asch, A. (2003). Disability rights critique of prenatal genetic testing: reflections and recommendations. Mental retardation and developmental disabilities research reviews, 9(1), 40-47.

Turrini, M. (2018). Online genomes: problematizing the disruptiveness of direct‐to‐consumer genetic tests. Sociology Compass, 12(11), e12633.

Vanstone, M., Cernat, A., Nisker, J., & Schwartz, L. (2018). Women’s perspectives on the ethical implications of non-invasive prenatal testing: a qualitative analysis to inform health policy decisions. BMC Medical Ethics, 19(1), 1-13.

 

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