Numerous voices within the genetics community believe that translational genomic research and new forms of personalized medicine must include populations of all social, economic and racial backgrounds Citation[1,2]. To increase the likelihood that new genomic tools are available to all who may benefit from their application, we must identify and then work to eliminate potential barriers that would limit access to emerging genomic technologies or reduce their clinical impact or personal utility.
One such barrier is that the high cost of genomic applications, such as whole-genome or -exome sequencing, may put these technologies out of reach for many patients. Smart and colleagues, along with other investigators and policy-makers, suggest that it is not yet clear if medically underserved communities will ever benefit from personalized genomic medicine (PGM) if costs or insurance plans are barriers Citation[3]. Even if a larger number of insurance companies begin covering genomic services, uninsured or underinsured families would likely have limited access to these technologies. Currently, some limited types of genetic tests, when indicated clinically, are available to patients on Medicaid Citation[4]. However, as genomic sequencing becomes more integrated into standard care, replacing traditional single gene or multiplex genetic tests, it is unknown whether public or private insurers will continue to cover these services. Even if these programs cover genomic services, this will not address the millions of Americans living within the insurance gap, who are not eligible for public support, but do not have adequate private insurance. Moreover, the implications of the Affordable Care Act for the translation of PGM to clinical settings are not yet known.
Other institutional or structural barriers to follow-up services related to genomic screening may limit the utility of personalized medicine. The past few years have seen dramatic declines in genotyping costs, largely due to advances in genome sequencing technologies. Despite these cost reductions, barriers to the provision of adequate educational and counseling services to help patients and families within underserved communities interpret genomic findings may inhibit the utility of genomic medicine. It is also likely that the limited numbers of genetic counselors and medical geneticists will not be able to meet the needs of the growing number of patients utilizing PGM Citation[5]. This shortage may be felt more acutely by patients at clinics that treat underserved communities, where there may be fewer opportunities to refer patients to medical specialists.
Additional concerns have been raised about whether and how medically underserved individuals will engage PGM technologies in their healthcare Citation[6]. There are already significant questions regarding how genomic data may inform individuals‘ health behaviors or prevention strategies. These questions may be more challenging in communities experiencing significant health disparities owing to social or physical environmental exposures. While genomic risk information may be beneficial by identifying those most at risk for certain chronic conditions, it is unclear how well these kinds of findings can be integrated with environmental exposure data Citation[7]. It is also unclear to what extent members of underserved communities may have the economic or structural resources to alter behaviors or lifestyles in ways that help to mitigate genetic risk factors.
The general public has been concerned about how genetic test results may affect future medical treatment or insurance coverage Citation[8] and these concerns may be amplified among those who are medically underserved Citation[9]. Although the Genetic Information Nondiscrimination Act forbids a group health insurance plan from using genetic information to determine eligibility and prohibits insurance companies from denying coverage Citation[10], the confidentiality of genetic information remains a concern for many. These concerns may be amplified within underserved communities, where mistrust of the healthcare system and medical researchers is common. Fears about genetic discrimination may also limit the participation of underserved individuals in translational genomic research, potentially resulting in these studies not adequately reflecting their health concerns or priorities, further limiting the utility of PGM within these communities.
Lastly, perhaps the most challenging barriers for integrating genomic medicine within underserved communities are the potential assumptions that health professionals and genome scientists may make regarding the level of interest in these technologies that exists among low-income communities. For example, there may be some healthcare professionals who believe that their clients would not be interested in genomic medicine given constraints on their ability to obtain adequate basic healthcare services or otherwise act in response to genetic information. Similarly, genomic screening tools may not be marketed to members of lower-income communities if there are perceptions that these tests would be unwanted.
Clearly, these financial and structural obstacles will make the integration of genomic technologies more difficult in underserved communities. Reduced access to medical care and genetic services is the central concern and, thus, questions regarding clinical utility and disease risk may be overshadowed by economic constraints. Nevertheless these barriers should not lead to perceptions that access to PGM is not desired by members of underserved communities because of more pressing health needs or that a lack of access to healthcare services will inevitably diminish the usefulness of information generated through genomic screening. These assumptions may lead to underserved communities being ignored as potential beneficiaries of PGM.
Previous research has shown both interest and concerns about genetic services within underserved and racially/ethnically diverse populations Citation[11,12]. However, little is known about the potential interests and concerns regarding translational genomics among clinicians and administrators responsible for providing medical treatment to patients in underserved communities. To date, most research on opinions regarding PGM has focused on the attitudes of early adopters or patients in university-affiliated hospitals rather than in community clinics serving lower-income patients Citation[13,14]. More research is needed to address this critical gap. Research aimed at identifying potential structural or financial barriers to the uptake of genomic medicine within underserved communities is especially crucial. Findings from these kinds of studies will enhance our knowledge of the views and concerns of populations who are less likely, at least in the near future, to receive the benefits that genomic science promises.
In addition to research, the promise of genomics research and its translation to clinical settings for the underserved can only be achieved through open dialog between health practitioners, genome scientists, community leaders and the public.
The goal of this dialog should be to identify strategies for integrating personalized genomic medical practices into healthcare for underserved populations and ensure fair distribution of the benefits of translational genomic research. Doing so will depend on our understanding of the benefits and potential risks of genomic medicine for all segments of the general public, including the underserved and uninsured.
Concerns about the management and interpretation of large amounts of genomic data, the costs of genomic sequencing and potential lack of educational or counseling support for patients and their families, currently limit the ways in which PGM may be used in medical practice more generally Citation[15]. These concerns are even more salient for uninsured or underinsured patients and those living in medically underserved communities. While the clinical value of results from PGM remains unclear or questionable for many common diseases, individuals with financial resources or generous insurance policies will likely benefit before those with less access to medical care and genetic services. To avoid increasing the socioeconomic divide that separates and marginalizes people without financial or insurance resources, it is important that genome investigators and practitioners take into account the beliefs and concerns of these communities.
Acknowledgements
The authors thank L Morello for her assistance in preparing this manuscript.
Financial & competing interests disclosure
This work was supported by the Center for Genetic Research Ethics & Law (2P50-HG-003390-06) from the National Human Genome Research Institute and a NIH grant from the Center for Minority Health and the National Human Genome Research Institute (1RC1HG005789-01). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.
No writing assistance was utilized in the production of this manuscript.
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References
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