Genomic and Implications Health Information Technology Essay


Access the web site: Answer the following questions:

How are ethical considerations being addressed?

What additional ethical issues can you think of that are not discussed on this page? List and explain two issues.
Access the Informed Consent section. How are ethical issues addressed on this form?

How do you envision that genomics and personalized medicine will change the landscape of health care?

Evaluate the complexity of the technical issues related to managing and utilizing genomic data.

Without discrimination as the framework, preventive medicine and wellness models may desire genetic testing in adults to identify genetic diseases before they cause symptoms. Outline the considerations for the shifts in health care delivery caused by personalized medicine including the management of personalized data.

Genomic and Implications Health Information Technology


Genomics and personalized medicine are poised to significantly impact healthcare delivery systems, patients, and research participants. Personalized medicine and genomics are information-intensive and this brings in various ethical and other challenges. This essay will discuss the ethical issues in genomics as well as the complexities associated with managing and utilizing genomic data. Additionally, the impact of genomics and personalized medicine on healthcare will also be discussed.

Confidentiality and privacy are important aspects of genetic testing and research. To address the issue, some policies and laws protect the confidentiality and privacy of the genomic information of people and ensure that their privacy is respected. Some of the policies and laws aimed to maintain confidentiality and privacy include Newborn Screening Saves Lives Reauthorization Act; HIPAA privacy rule; Certificates of Confidentiality; NIH Genomic Data Sharing Policy; and NIH Genomic Data Sharing Policy (NIH, 2020).

To ensure that individuals participating in genetic research and testing are aware of the risks and the benefits involved, an effective informed consent procedure for genomics testing and research is required (NIH, 2020). Researchers should also obtain consent for future sharing and use of the phenotypic and genomic data. A Genomic Data Sharing Policy has been implemented by NIH to govern the process of genomic data sharing (NIH, 2020).  Genomic and Implications Health Information Technology Essay

Genetic discrimination is being addressed through the Genetic Information Nondiscrimination Act (GINA). The GINA protects individuals from discrimination due to their genetic information in employment (Title II) and health insurance (Title I) (NIH, 2020). GINA protects people who participate in genetics research or genetic testing from being discriminated by health insurance companies and employers from using genetic information to make employment decisions (Brothers & Rothstein, 2015).

Additional ethical issues that need to be discussed on the page include physician-patient relationships and the likely liability due to increased risk of error that may cause patient harm. Genomic is likely to significantly impact the physician-patient relationship (Brothers & Rothstein, 2015). This is because physicians may lack the necessary competency to provide essential services associated with genomics such as formulating the prevention and treatment approaches as per the genomic information; interpreting whole-genome sequencing findings; and use of the pharmacogenomic products and principles in prescribing (Brothers & Rothstein, 2015). For instance, pretest genetic counseling is required before performing genetic tests. After the test results, interpretation of the information is required, and the use of the genomic insights to design the treatment plan. Regarding liability, the increased complexity associated with genomics may increase the risk of medical errors that may lead to patient harm, and hence create potential liability.

The informed consent form covers all the elements required to ensure a full informed consent is sought during research. The consent form covers the voluntary participation of the potential research participants, including withdrawal from the research. The purpose of the research, risks, potential benefits, confidentiality, description of procedures, alternatives to participation, and financial considerations are all covered (NIH, 2020). The consent form also covers the available resources in case of harm and the contact information for the participants if need be. The consent form covers all aspects of research, which are essential for participants to make a decision and after understanding all aspects of the study, participants can voluntarily confirm their willingness to take part in a specific research study (Karbwang et al., 2018).

Genomics and personalized medicine will have a transformative impact on individual health and wellbeing, as well as on health economics. The genomic data in databases and computational technologies presents an increasing capacity for making accurate diagnoses; assessing predisposition to the disease; and developing targeted and effective treatment strategies (Ginsburg & Phillips, 2018). Genomic medicine refines diagnosis and guides treatment approaches for cancer and thus genomic information can help in establishing treatment strategies by categorizing cancer tumors depending on how they mutate and correspond to drug sensitivities (Ginsburg & Phillips, 2018). Through genomics, it has been possible to avoid complex and costly medical procedures and thus it presents an opportunity to lower healthcare costs. Genome-wide sequencing also enables the detection of non-invasive tumors and monitoring response to treatment for cancer patients.


Personalized medicine provides the potential of tailoring the most effective therapy and treatments with the highest safety profile to facilitate better patient care. Personalized medicine offers an opportunity for developing medications that target patient groups who show no response to traditional drugs (Ginsburg & Phillips, 2018). Therefore, through genomics and personalized medicine, patients can receive prompt diagnoses, health assessments, and timely treatments and thus they hold a promise to improve healthcare while reducing the costs.

Genomic medicine builds on personalized approaches for diagnostic or treatment decision-making using the genomic data of patients. Large data sets are involved which presents various challenges (He et al., 2017). For example, there is are numerous challenges in the manipulation of genomic data. Even though genomic technologies allow easier genetic sequencing, there are significant challenges when it come to the handing, analysis and the interpretation of the generated genomic data. There are also challenges associated with the manipulation of the clinical data (He et al., 2017). The clinical data retrieved from the medical records for each patient can be significant. Patient classification is very vital when mining clinical data. Without appropriate and stringent phenotyping strategies, it is not possible to appropriately measure classifications and this can lead to false positives or negative correlations. Moreover, there is a key challenge when it comes to the maintenance of the privacy, security, and confidentiality of the mined data (He et al., 2017).  Genomic and Implications Health Information Technology Essay

Personalized medicine holds the potential of changing the effectiveness and efficacy of treating numerous diseases, which might be linked to DNA mutations and other chronic diseases whose risk of developing can be reduced by determining the risk and implementing the required lifestyle changes (Mathur & Sutton, 2017). Moreover, personalized medicine utilizes advances and discoveries in knowledge on the biological mechanisms and genetic factors for disease, as well as the unique considerations of the individual care needs of the patient to ensure the provision of effective and safe healthcare (Mathur & Sutton, 2017). Therefore, personalized medicine presents a key strategy in improving the quality of care.


The discussed ethical issues in genomics include confidentiality and privacy; informed consent and genetic discrimination. Comprehensive informed consent is very necessary to ensure that research participants and individuals undergoing genetic testing make an informed decision. Physician-patient relationships and the potential liability with genetic testing are important ethical issues in genomics. Genomics and personalized medicine are poised to significantly impact individual health and wellbeing, allow early disease diagnosis and prompt treatment, and also reduce healthcare costs.


Brothers, K. B., & Rothstein, M. A. (2015). Ethical, legal, and social implications of incorporating personalized medicine into healthcare. Personalized medicine, 12(1), 43–51.

Ginsburg, G. S., & Phillips, K. A. (2018). Precision Medicine: From Science to Value. Health affairs (Project Hope), 37(5), 694–701.

He, K. Y., Ge, D., & He, M. M. (2017). Big Data Analytics for Genomic Medicine. International journal of molecular sciences, 18(2), 412.

Karbwang, J., Koonrungsesomboon, N., Torres, C. E., Jimenez, E. B., Kaur, G., Mathur, R., … & Malek, M. A. (2018). What information and the extent of information research participants need in informed consent forms: a multi-country survey. BMC medical ethics, 19(1), 79.

Mathur, S., & Sutton, J. (2017). Personalized medicine could transform healthcare. Biomedical Reports, 7(1), 3–5.

National Institutes of Health (NIH). (2020). Policy Issues in Genomics.

Genomic and Implications Health Information Technology Essay

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