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Precision medicine has been a promising strategy to help eliminate disparities in healthcare involving race, ethnicity and gender. By providing patients with custom healthcare that focuses on their genetics, lifestyle and environment, treatments can become more effective by taking into account individual differences in health.

Despite the fact that there has been an ongoing initiative to assure proper treatment of racial and ethnic groups when dealing with precision medicine, there has been a noticeable lack of research regarding one minority group in particular: persons with disabilities. Considering that 26% of adults in the US have a disability [1], it is imperative to conduct sufficient research with persons with disabilities and include them in the ethical debate of precision medicine. There are several justifications for why people with disabilities need to be included in these conversations. Firstly, there are several disabilities with “genetic underpinnings” in which precision medicine can be employed so that the patient is receiving the best personalized care [2]. Additionally, people with disabilities are more susceptible to certain diseases than others; for instance, the risks of breast and lung cancers among schizophrenia patients are much higher compared to the general population [3].


Despite these justifications, there are hurdles when attempting to include the disabled community in precision medicine. First and foremost, there could be challenges in obtaining the patient’s informed consent, especially when dealing with people who have an intellectual disability. Additionally, researchers often do not know how to design certain studies that contain formats accessible to disabled persons [4]. There are also social determinants that create barriers to healthcare. Lastly, patients with disabilities may be less inclined to attend research meetings that do not lead to immediate results, as they are already more likely to miss pre-existing appointments, compared to non-disabled patients, due to cost and transportation issues [5]. The increased lack of internet access among the disabled community also poses a problem, as this could be a useful outlet to conduct the necessary research [6].

Inclusion of persons with disabilities is a necessity in precision medicine. The solution to this problem is still unclear, as the barriers laid out need to be solved in order to assure the safe inclusion of disabled people in this community. Until these issues are met, it can be argued that it is safer for the disabled community to refrain from engaging in research. Prematurely doing so could lead to even larger health disparities involving this group. Therefore, we must work together and find a way to solve these problems in order to begin their inclusion in precision medicine research.


Edited by: Min Ju Lee

Graphic Designed by: Sibani Ram


References:

[1] CDC. "Disability Impacts All of Us." Centers for Disease Control and Prevention, 17 June 2021, www.cdc.gov/ncbddd/disabilityandhealth/infographic-disability-impacts-all.html. Accessed 27 Feb. 2022.

[2] Sabatello, M. Precision medicine, health disparities, and ethics: the case for disability inclusion. Genet Med 20, 397–399 (2018). https://doi.org/10.1038/gim.2017.120

[3] Wisdom JP, McGee MG, Horner-Johnson W, Michael YL, Adams E, Berlin M . Health disparities between women with and without disabilities: a review of the research. Soc Work Public Health2010;25:368–386.

[4] Williams AS, Moore SM . Universal design of research: inclusion of persons with disabilities in mainstream biomedical studies. Sci Transl Med2011;3:82cm12.

[5] Krahn GL, Walker DK, Correa-De-Araujo R . Persons with disabilities as an unrecognized health disparity population. Am J Public Health2015;105(suppl 2):S198–206.

[6] Krahn GL, Walker DK, Correa-De-Araujo R . Persons with disabilities as an unrecognized health disparity population. Am J Public Health2015;105(suppl 2):S198–206.



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  • Camille Krejdovsky

Precision medicine often brings to mind a futuristic view of health care, in which therapies can be tailored to patients’ needs based on their lifestyle, genetics, and environment. While this form of medicine seems like an innovation that will be implemented far in the future, the fundamental ideas behind precision medicine are already playing out in society. Due to the delay in widespread integration of genomic data in health care, the private sector has taken matters into their own hands, offering what has been termed direct-to-consumer (DTC) genetic testing. While the term “DTC genetic testing” might be foreign, the idea is not. One of the most prominent examples is 23andMe, a company that allows consumers to pay for insights into their health and ancestry. The basic idea behind the DTC model is simple: consumers spit into a tube, mail it back to the company, and receive information back about themselves, ranging from diet recommendations to risk for certain diseases. However, the implementation of the model has proved to be much less simple, raising a variety of ethical and technical concerns.



On a technical level, concerns arise about how the genetic data collected is being used. The most widely discussed is data privacy, especially with respect to holes in current genetic discrimination laws and in situations of changing company ownership. Since genetic information is identifying for both individuals and their family members, the decision of one person to share their genetic information could impact others negatively if used improperly. In addition, a second large technical concern lies in the accuracy of the tests. Most DTC genetic tests utilize single nucleotide polymorphism (SNP) genotyping in which variants in single base pairs in certain locations across the genome are characterized (1). Although whole genome/exome sequencing would generate more comprehensive results, it is also much more expensive (2). Because these SNP tests often attempt to communicate risk for multifactorial diseases based on information about a few variants, results returned are often incomprehensive and misleading to consumers (3). A study published in 2018 carried out clinical laboratory testing on 49 individuals who had previously taken a DTC test. The researchers reported an overall 40% false positivity rate in the results returned by the DTC companies as well as discrepancies between variants considered pathogenetic (4). While distributing misleading results is problematic in itself, the implications are even greater when the results are reporting on risk for diseases that will potentially impact a person’s lifespan and reproductive decision making.

Another large group of ethical concerns centers around participant understanding. While necessary, true informed consent is very difficult to obtain due to the online nature of the consent process and the complexities of secondary uses. Furthermore, incorrect interpretation of results by consumers could lead to distress, potentially inappropriate decision making, and strain on physicians who are not adequately trained in genetics (5,6). Genetic counseling could be key, but providing it is not current standard practice for these companies (6). In addition to providing genetic counseling, decisions need to be made about what individuals have the right to know about their genome. If the view is taken that individuals should have access to their genetic information, then the question shifts to what types of information should be accessible. Some maintain that in the realm of medical genetic testing, only results with direct clinical utility should be returned, whereas others argue for a sense of personal utility (2).

While these issues have been identified in the context of DTC genetic testing, they will all need to be addressed before genetic information can be widely used in the health care setting. While huge potential exists for precision medicine to save time and lives, we need to ensure that appropriate attention is paid to the ethics of venturing into this new era of clinical care. DTC companies have served as a sort of test run of the concept, providing us with valuable insight into both the concerns and potential of utilizing the clues hidden within the genome.


Review Editor: Rohan Gupta

Design Editor: Amber Smith


References:

1. Raw Genotype Data Technical Details. 23andMe. https://customercare.23andme.com/hc/en-us/articles/115004459928-Raw-Genotype- Data-Technical- Details#:~:text=The%2023andMe%20genotyping%20platform%20detects,the%20DNA %20base%20or%20bases.&text=These%20DNA%20base%20differences%20are%20kn own%20as%20%22variants.%22.

2. Vayena E. Direct-to-consumer genomics on the scales of autonomy. J Med Ethics.2015;41(4):310-314. doi:10.1136/medethics-2014-102026.

3. Oh B. Direct-to-consumer genetic testing: advantages and pitfalls. Genomics Inform. 2019;17(3):e33. doi:10.5808/GI.2019.17.3.e33.

4. Tandy-Connor, S., Guiltinan, J., Krempely, K. et al. False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care. Genet Med 20, 1515–1521 (2018).https://doi.org/10.1038/gim.2018.38.

5.Howard HC, Borry P. Is there a doctor in the house? : The presence of physicians in the direct-to-consumer genetic testing context. J Community Genet. 2012;3(2):105-112. doi:10.1007/s12687-011-0062-0.

6. Tamir S. Direct-to-consumer genetic testing: ethical-legal perspectives and practical considerations. Med Law Rev. 2010;18(2):213-238. doi:10.1093/medlaw/fwq01.



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  • Morgan Robinson

Precision medicine is medical care designed to optimize treatment of patients in certain subgroups, often using genetic or molecular profiling. This application of research has been expanded into many areas of healthcare and professionals study the genetics, environment, and lifestyle of a person’s own genes or proteins to prevent, diagnose, or treat diseases. Precision medicine has been successfully implemented with many more high volume diseases, such as diabetes and heart disease. However, only recently have efforts been made to expand into a more difficult area of medical research: rare genetic diseases. These diseases, such as Mitochondrial disease and Usher syndrome, can take much longer to diagnose and often result in an extensive diagnostic odyssey (period of attempted diagnosis from the onset of symptoms) which can involve many different professional visits and possible diagnoses. The time spent with painful medical procedures and practices to search for the proper diagnosis is lengthy. The potential application of precision medicine in this field could help alleviate this painful process as a diagnosis can lead to therapeutic and practical treatments for patients.

Worldwide, ‘“more than 25 million Americans and more than 400 million people suffer from one of over 7000 rare conditions” (3). Most of these patients suffer on a “diagnostic odyssey” with uncertainty, no diagnosis, and only treatments that “might work”. With precision medicine, genetic tenting could help speed up the process and improve the probability of a diagnosis.

However, what are the ethical implications of this potential research?

Utilizing the technique of precision medicine has little to no ability to avoid breaching personal information. The center of this technique is based upon invasive personal data surrounding one’s lifestyle as well as specific family genetic lines. Some commonly discussed issues are privacy, informed consent, shared decision making, social justice, regulation of human subjects, and more (4). However, researchers have worked hard to minimize the negative implications with ideas such as “treating individuals as partners rather than only as prospective human subjects” (2). Most important is the clear explanation of the role of participants and informed consent into any specific study. With rare genetic diseases, this is even more imperative as it is much more difficult to gather data as a result of significantly less affected and diagnosed patients compared to common diseases such as diabetes.

One ongoing application is being conducted at Columbia University with the DISCOVER program aimed at diagnosing and treating rare diseases. As a part of the Columbia Precision Medicine Initiative, researchers are utilizing data from patients’ genome-sequencing and other information relative to delivery of comprehensive genomic information in order to construct models of identified diseases for future patients. With these tools, templates, and information, potential future diagnosis will be more aprehensible and save patients some of the long odyssey others have suffered through.


Edited by: Sage Singh

Graphic Designed by: Priya Meesa


References:


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DMEJ

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