Duke Medical Ethics Journal
All Some of Us
By: Eugene Cho
Following the completion of the human genome project in 2003, precision medicine became a major sector of interest among professionals in the scientific and medical communities. Also known as the practice of creating personalized therapeutics and treatments for patients based on their genomic classifications, precision medicine offers new horizons as to what can be achieved through medical treatment. The field focuses largely on the reliability of data, analytics, and information and introduces new avenues in which multiple people with the same diagnosis can receive individualized treatment methods (Ginsburg and Phillips, 2018).
The expansion of precision medicine will result in previously unexplored methods of treatment; however, there are still many discussions regarding the field’s efficacy and ethical implications. For one, there are various concerns about the privacy of genomic information of individuals kept in the database, as well as the exacerbating disparities in healthcare that may result. Precision medicine could possibly build on the current discriminatory and inherently racist healthcare system. It may become a commodity only available to white and privileged individuals, leaving minority and underprivileged communities without the same genomic representation in genomic databases. There are already many difficulties that underprivileged individuals face, like the lack of trust in physicians, but the lack of representation of underprivileged individuals may exacerbate those difficulties. To prevent the exacerbation of health inequalities, there must be intentional efforts from larger organizations to include the genomes of underrepresented communities and to strive to create infrastructures that will promote equal opportunities in healthcare to all
There are many benefits to using precision medicine, and current uses highlight those advantages. Genome-wide Association Studies (GWAS) use observational studies to test genetic variants across the genomes of a variety of individuals (Tam et al., 2019). These studies allow for improved therapeutics to be developed after researchers gather genomic data. An example is the screenings performed on pregnant women to test for possible genetic complications with their fetuses. Older patients may be more hesitant to have kids due to the correlation between age and the increased probability of their offspring having a genetic complication. This can be worrisome for future parents, but precision medicine is a useful tool used prior to conception to predict the risk of passing on genetic disorders, especially recessive disorders like cystic fibrosis, to offspring (Bell et al., 2011).
Additionally, precision medicine has been observed to be very promising in the process of applying therapeutics to patients, starting from diagnosis and characterization of the disease, ending with enhancing drug safety by characterizing responses to drug treatments (Edwards et al., 2020). Another application found in Thailand employs genetic testing of epileptic patients to determine those who are at risk of developing severe skin reactions to commonly prescribed medication. This information is crucial to prescribe alternative medication before this skin reaction ever occurs (Prichep, 2019). Regardless of these significant advances and benefits to using precision medicine, there is still a lot of information that is lacking, preventing precision medicine from becoming as comprehensive and effective as it can be. The whole premise of precision medicine is to improve the accuracy of diagnoses and understand the different elements of disease risk to improve the efficacy of treatments for all patients (Edwards et al., 2019). While this specific form of individualized medicine has been prioritized through efforts to incorporate diverse genetic information into clinical records, it has also been increasingly inaccessible to disadvantaged and underrepresented populations.
Currently, there are many health inequities that exist that must be addressed analogously to the introduction and use of precision medicine. Residents of underrepresented communities have a history of being excluded in new medical advancements due to a plethora of reasons like poverty, the lack of access to quality education, and the general clustering of disadvantaged groups of people (Prichep, 2019). Individuals that are a part of these communities are not able to gain access to healthcare or knowledge of medical resources that their white counterparts would otherwise receive. Studies have observed that non-Hispanic whites are more likely to have a consistent source of care, ambulatory care throughout the year, and more likely to be satisfied that their families can receive care (Kirby et al., 2006). By living in underrepresented communities and therefore having a lack of access to nearby available services or services with a trusted provider, individuals are less likely to gain entry into the healthcare system, or even if they do, are less likely to receive quality care (Prichep, 2019).
It may be argued that other social determinants like income and education have a greater influence on access to healthcare rather than race and underrepresentation in society. Studies have shown that those who live in poverty are five times more likely to report having “fair” or “poor” health in comparison to their wealthier counterparts (Woolfe & Braveman, 2011). This may be due to the accessibility to healthcare services or even insurance, however, even when access-related factors are controlled, like the insurance status of patients, racial and ethnic minorities still tend to receive lower-quality care (Matthew, 2019). These issues stem from the inherently unfair health system created to prioritize privileged individuals and this racialized medicine will worsen if there are no changes made. These factors and circumstances have already made health inequalities apparent in the past, but the implementation of precision medicine and the growing use of it may exacerbate those disparities.
“While [precision medicine] holds a lot of hope and anticipation for future generations, it will not be possible without the inclusion of all populations, both privileged and underrepresented alike.”
Ideally, precision medicine would link patients, providers, clinical laboratories, and researchers together on the basis that the study of genomic sequences would lead to better and more efficient therapies (Ginsburg and Phillips, 2018). A powerful precision medicine environment requires the trust of higher institutions and organizations to gain access to one’s genomic data. Therefore, to become more effective, there needs to be a large pool of individuals willing to contribute, but due to the distrust and lack of knowledge of these benefits, individuals who reside in underrepresented communities may not be aware of these opportunities and trust providers enough to be able to take part in this data collection. A study done by Halbert et al. (2006) found that African Americans (44.7%) were more likely to report low trust in their physicians than their white counterparts (33.5%). While precision medicine aims to benefit society, if it neglects underrepresented groups of people, those populations will not be able to receive the same renowned therapies as others in more affluent communities. This could translate to whether a fetus survives because of the detection of genetic defects prior to birth in white populations as opposed to non-white populations.
Additionally, there is less documentation of genomes of those from underrepresented backgrounds, so even if therapeutics were available, they would not be as effective to those individuals in comparison to their white counterparts. A study found that there are significantly fewer studies (exhibiting consistent patterns amongst data types and disease areas) of African, Latin American, and Asian ancestral populations in comparison to European populations (Landry et al, 2018). Additionally, research conducted by Need & Goldstein (2009) found that 96% of all genomewide association studies were of people of European descent. This makes the results of precision medicine very promising for individuals within those populations but neglects populations who are not of European descent. There have been steady improvements over the years as Popejoy & Fullerton (2016) found that 81% of genome wide association studies were of people of European descent, but 14% of the remaining 19% of individuals were of Asian descent. This has direct consequences for those who are not able to receive tailored therapies to address their diseases as those therapies will not effectively treat diseases in certain groups of individuals. For example, the treatment of chronic hepatitis C infection has a lower chance of success in African Americans than in European-Americans (Need & Goldstein, 2009). This can be easily mitigated by increasing the pool and diversity of genomes within GWAS. While health inequalities seem endless, there can be concrete steps taken to address and hopefully alleviate some of the disparities.
Even with attempts in trying to implement increased trust amongst patients and care providers as well as increase documentation of a more diverse dataset of genomes, there are some challenges. Some key barriers include the absence of supporting information technology infrastructure, lack of data standards, insufficient decision support technology, and insufficient funding for translational health research (Ginsburg and Phillips, 2018). This is a real issue amongst populations living in underrepresented communities and could be seen as the main reason that minority populations do not have access to similar medical practices as other individuals may have.
To address these barriers, there must be continued development of technology, population resources, and sustained engagement with minority communities (Edwards et al., 2020). By doing so, individuals residing in those communities can be better educated to make medical decisions for themselves and be introduced to all the treatment options available to them, including having their genomes sequenced to find therapies tailored to them. This need for increased education is not a one-way street, but something that healthcare physicians must acknowledge as well. Physicians must understand the culture of the patients that they are working with to increase their accessibility to patients. Stigmas and implicit biases that healthcare workers hold towards various minority populations must be addressed. A study done at the University of Colorado’s Medical Center found that 28% of medical students and physician assistants witnessed insensitive comments about racial and ethnic minorities (cited in Nesbitt & Palomarez, 2016). It is essential that healthcare physicians prioritize the health of their patients, rather than allowing their own inherent biases intrude on their ability to provide quality care.
Additionally, external organizations must continue to identify novel treatments within minority populations and implement strategies to mitigate disparities. Organizations like “All of US,” which has the goal of building a diverse database to implement precision medicine into patients’ lives, and other genome-wide association platforms can make goals to strive towards a more inclusive database of genomes to be able to make precision medicine more accessible to underrepresented populations. Whether this means having more healthcare providers and researchers available in underrepresented communities, or to provide funding for communities to have proper structures to allow for GWAS, organizations can make a greater effort to prioritize an inclusive database. The US National Institutes of Health (NIH) even mandated the inclusion of diverse participants in the biomedical research it funds, but GWAS continues to neglect a vast proportion of the world’s genetic variation (Popejoy & Fullerton, 2016). For example, the largest type 2 diabetes GWAS in African Americans only covered 43.3% of common variants expected (Ng et al., 2014). Without an inclusive database, many underrepresented populations will not be able to benefit from precision medicine. Globally, individuals must also address health disparities that exist amongst underrepresented populations and initiate and advocate for change in the system. While this is a lofty goal, by taking small steps to make those systemic changes a priority, disparities can be avoided and mitigated.
Precision Medicine holds a lot of promise within the scientific and medical communities. It allows physicians to give patients a long-term solution to individual problems that cater to their specific needs at the genomic level. While this promise holds a lot of hope and anticipation for future generations, it will not be possible without the inclusion of all populations, both privileged and underrepresented alike. With the current health disparities in place, precision medicine has the possibility of exacerbating those health disparities, further isolating many minority populations. Precision medicine has shown to be very effective, but it will only be effective for a small proportion of the population if changes are not made to increase accessibility to healthcare and mitigate the many barriers that exist in the sector. The lack of representation of all people within the genomic database can result in severe consequences: precision medicine, which should be available to all of us, becomes a commodity only available to some of us. However, by making more intentional efforts, larger institutions and organizations can create a more inclusive environment for those who are underrepresented within science and medicine. The movement towards a healthier future revolves around an inclusive medical and scientific environment.
Review Editor: Danika Dai
Design Editor: Eugene Cho
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