Genomic sequencing is a rapidly evolving technology quickly transitioning into clinical practice. Sequencing helps to determine an individual’s complete genetic makeup, providing important information about their health and disease risk. This information can be used to tailor treatment and prevention strategies to the individual. It may also help to identify individuals at risk for certain conditions who may benefit from closer monitoring or early intervention. While genomic sequencing holds great promise, there are also important ethical, legal, and social considerations that need to be addressed. These include issues such as informed consent, confidentiality, and how to best use genomic information to improve health outcomes. These issues must be carefully considered as genomic sequencing moves into clinical practice to ensure that the technology is used in a way that is ethically responsible and benefits patients.
One of the key ethical considerations with genomic sequencing is informed consent. This means that individuals need to be made aware of the risks and benefits of sequencing before they decide whether or not to undergo testing. It is important that individuals are given enough information to make an informed decision and that they understand the implications of the test results. Another key consideration is confidentiality. Genetic information is sensitive, and individuals need to be assured that their information will be kept confidential.
Equally important, implementing genomic medicine requires a significant change in how healthcare is delivered. At present, genomic sequencing is used primarily in research settings. However, over the next 5 years, it is expected that genomic data will be generated from over 60 million patients within healthcare (Stark et al., 2019). This increase in data volume will require a significant change in how healthcare is delivered. In that concern, there are several barriers to the widespread implementation of genomic medicine, including data integration and interpretation, workforce capacity and capability, public acceptability and government engagement, lack of evidence for clinical utility and cost-effectiveness, and ethical and legislative issues.
Data integration and interpretation is a barrier because there is currently no standard way to store and interpret genomic data. This makes it difficult to share data between healthcare providers and compare results between different studies. In addition, Workforce capacity and capability are a barrier because there is currently a lack of trained staff who can interpret and use genomic data. Public acceptability is a barrier because the public may be reluctant to accept genomic testing if they do not understand the benefits and risks. Government engagement is a barrier because government regulations may not be favorable to genomic testing. The lack of evidence for clinical utility and cost-effectiveness is a barrier because there is currently limited evidence to show that genomic testing is clinically useful or cost-effective.
Ethical and legislative issues are a barrier because there are ethical concerns about genomic testing, and current legislation may not be favorable to genomic testing. Despite the challenges, the rapid transition of genomic sequencing into clinical practice provides many benefits for patients. Genomic information is used to diagnose and treat various diseases, including cancer, heart disease, and inherited conditions. In the future, genomic medicine will likely become even more commonplace as more evidence of its clinical utility emerges, and the technology becomes more accessible.
Stark, Z., Dolman, L., Manolio, T. A., Ozenberger, B., Hill, S. L., Caulfied, M. J., … & North, K. N. (2019). Integrating genomics into healthcare: a global responsibility. The American Journal of Human Genetics, 104(1), 13-20.