Genomics is an emerging field that promises to revolutionize healthcare through the development of novel services and products (Wang et al., 2017). Understanding its full potential requires a comprehensive grasp of its processes, including discovery, research, development, and commercialization (Souzeau et al., 2016). Genomics involves the study of genetics and genome analysis, focusing on the complete set of DNA in an organism. Genetic mapping, a popular practice within genomics, is used to enhance the clinical understanding of chronic diseases. However, the use of genetic information raises several ethical, legal, social, and policy issues (Kohn, Porteus, and Scharenberg, 2016). This essay explores these policy issues and addresses how ethical concerns are managed within the genomics framework. All information is sourced from secondary literature, and conclusions are drawn after a thorough review of the discussions.
Ethical Considerations in Genomics
Since the inception of genomics, numerous ethical issues have been identified and discussed by health advisory committees and regulatory bodies. Key ethical considerations include:
A. Genetic Discrimination
To protect against genetic discrimination, several acts and laws have been established:
- Genetic Information Non-discrimination Act (GINA): Enacted in 2008, GINA aims to prevent discrimination based on genetic information. It aligns with the Public Health Service Act and Social Security Acts to enhance non-discrimination in healthcare services (Wang et al., 2017). This law covers genetic information such as medical history, family diseases, and genetic testing results. GINA prohibits employment decisions based on genetic information and forbids employers from requiring genetic testing. However, GINA does not apply to employers with fewer than 15 employees. Some state laws also complement GINA to safeguard against genetic discrimination (Newson and Schonstein, 2016).
B. Ethical Considerations in Human Subject Research
Human subject research is essential for exploring concepts not obtainable through model organisms. The protection of research participants is paramount (Kohn et al., 2016). The Common Rule provides guidelines for ethical considerations, requiring informed consent from participants. This consent must detail possible risks, processes, and safety issues (Wang et al., 2017). Participants should be informed about the use of their genetic information and the implications for their relatives, who may also face privacy concerns (Newson and Schonstein, 2016).
C. Intellectual Property Rights
In genomics, an individual’s genome is considered personal property. Therefore, DNA in its natural form should not be patented, and DNA sequences should be freely accessible to the public (Kohn et al., 2016).
D. Privacy in Genomics
Maintaining privacy is crucial in genomics. NIH Certificates of Confidentiality restrict researchers’ access to participants’ information, ensuring privacy (Anderson et al., 2015). Privacy protections are extended to both clinical and societal contexts. The Common Rule and the Health Insurance Portability and Accountability Act (HIPAA) provide additional privacy safeguards (Souzeau et al., 2016).
E. Health Disparities
Genomic studies aim to advance medicine and benefit all populations equally. It is crucial to include diverse populations in research, considering racial, ethnic, and cultural differences. Genomic research must also address minority groups (Newson and Schonstein, 2016).
F. Genetic Testing
Federal regulations provide a framework for evaluating the analytical and clinical validity of genetic tests. The FDA and CMS offer guidelines for the clinical utility of genetic testing results (Newson and Schonstein, 2016).
Additional Ethical Issues
Several other ethical issues in genomics include predictive testing, incidental or secondary findings, returns of results, and informed consent.
Predictive Testing for Minors
The use of genetic testing for minors raises ethical concerns. Genome.gov should provide clear information on these issues. As minors cannot grant informed consent, parents are responsible for providing consent under current laws. However, this area remains ethically ambiguous (Anderson et al., 2015; Newson and Schonstein, 2016).
Ethical Considerations for Incidental or Secondary Findings
Ethical considerations for incidental or secondary findings in genomic testing are not fully addressed by current ethical codes. There is a need for clearer guidelines in this area (Souzeau et al., 2016).
Informed Consent
Informed consent must detail the risks, potential unexpected conditions, and privacy concerns of family members. It should align with the Common Rule and FDA regulations. The NIH Genomic Data Sharing (GDS) policy provides guidelines for when informed consent is required and when it is not (Anderson et al., 2015).
The Role of Genomics in Personalized Medicine
Genomics plays a pivotal role in disease management and the development of personalized medicine (Souzeau et al., 2016). Personalized medicine enhances healthcare by facilitating early disease detection, optimizing treatment methods, improving patient compliance, and reducing treatment complications. It also decreases prescribing and diagnostic errors, reduces healthcare costs, and ensures timely and effective treatment (Rehm, Hynes, and Funke, 2016; Phillips et al., 2017).
Managing Genomic Data Complexity
Managing genomic data presents significant challenges due to its complexity and volume. Data from a single genome can reach up to 100 gigabytes, with millions of gigabytes generated by genomic research. This complexity necessitates efficient computing infrastructures for data analysis and interpretation, addressing issues such as workflow management, sample tracking, and data security (Gesing, Connor, and Taylor, 2015).
Considerations for Shifts in Healthcare Delivery
The shift to personalized medicine involves several considerations:
- Increasing awareness and providing appropriate education
- Enhancing patient empowerment
- Recognizing value in personalized care
- Restructuring infrastructures
- Efficient data management
- Improving accessibility to personalized care
Future healthcare delivery systems must focus on patient-centered care, with personalized medicine playing a significant role (Snyder, 2016).
Conclusion
Genomics, encompassing genetics and genome analysis, is crucial in disease management and the development of personalized medicine. The Common Rule and other ethical guidelines ensure the protection of research participants and address privacy concerns. Personalized medicine promises to transform healthcare by improving early detection, treatment effectiveness, and overall patient outcomes.
References
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Gesing, S., Connor, T. R., & Taylor, I. (2015). Genomics and Biological Big Data: Facing Current and Future Challenges around Data and Software Sharing and Reproducibility. arXiv preprint arXiv:1511.02689.
Kohn, D. B., Porteus, M. H., & Scharenberg, A. M. (2016). Ethical and regulatory aspects of genome editing. Blood, The Journal of the American Society of Hematology, 127(21), 2553-2560.
Newson, A. J., & Schonstein, L. (2016). Genomic testing in the paediatric population: ethical considerations in light of recent policy statements. Molecular diagnosis & therapy, 20(5), 407-414.
Phillips, K. A., Deverka, P. A., Sox, H. C., Khoury, M. J., Sandy, L. G., Ginsburg, G. S., … & Douglas, M. P. (2017). Making genomic medicine evidence-based and patient-centered: a structured review and landscape analysis of comparative effectiveness research. Genetics in Medicine, 19(10), 1081.
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Souzeau, E., Burdon, K. P., Mackey, D. A., Hewitt, A. W., Savarirayan, R., Otlowski, M., & Craig, J. E. (2016). Ethical considerations for the return of incidental findings in ophthalmic genomic research. Translational vision science & technology, 5(1), 3-3.
Snyder, M. (2016). Genomics and personalized medicine: what everyone needs to know. Oxford University Press.
Wang, S., Jiang, X., Singh, S., Marmor, R., Bonomi, L., Fox, D., … & Ohno-Machado, L. (2017). Genome privacy: challenges, technical approaches to mitigate risk, and ethical considerations in the United States. Annals of the New York Academy of Sciences, 1387(1), 73.
