What recent advancement do you believe is the most significant for your clinical practice?
DNP 810 Topic 4 Discussion Question One

In the past decade there have been many advances in genetics and genomics and their application to health screening, diagnosis, treatment, and prognosis. What recent advancement do you believe is the most significant for your clinical practice? Explain. Support your rationale with a minimum of two scholarly sources.

Genomic testing is used to diagnose, monitor, treat, predict and prevent disease, as well as promote good health in individuals, across communities and whole populations. Technological advances have allowed for greater integration of genomics into healthcare delivery, from screening and molecular diagnostics, to the accurate detection of microbes, and the ability to prescribe and monitor the efficacy of more precise therapeutics (1). The potential for increased use of genomic testing in the health setting is available

DNP 810 Topic 4 Discussion Question One
DNP 810 Topic 4 Discussion Question One

throughout the life cycle, including in preimplantation, prenatal, neonatal, pediatric, adult, preconception, and posthumous settings (2). The person (who is often, but not always, also the “patient”) should be firmly at the center of the genomics revolution in healthcare. We begin this review by discussing a variety of current and emerging situations in which genomic testing is being utilized in health settings, focusing on the ethical, legal and social issues that apply at each point in the cycle-of-life and at particular decision points relevant to specific healthcare situations.

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Subsequently, we focus on three main areas in which genomic technology, which is considered to be both disruptive and transformative to healthcare delivery (3), creates unique ethical issues that can challenge traditional aspects of healthcare. We summarize some of the key challenges and considerations surrounding the increasing application of this technology, highlighting issues that may arise when genomic tests are used at different life cycle stages. Within this section, we firstly outline the juxtaposition between clinical utility of a genomic test with personal and other utility, particularly where genomic testing is utilized in non-clinical settings (4). Related to questions around the utility of testing are issues surrounding the limited ability to interpret incidental findings and variants of unknown significance, which presents ethical challenges for the responsibility to return such results to patients (5).

Secondly, we consider how the personal nature of genomic data is such that it can never be truly de-identified. This creates potential issues around data storage and sharing; however, integral to this is the necessity to share genomic information to allow for advancement of knowledge of the etiology of disease (6). Furthermore, appropriate reference genomes are critically important for capturing the genomic diversity of the population being tested (7) so as to deliver equitable healthcare.

Finally, we discuss how genomic testing can challenge traditional models of informed consent in an environment where online DNA tests are available, where genomic testing is being increasingly utilized for individuals who are unable to consent, and where re-interrogation of stored genomic data is possible (8). For the purposes of this review, the term “genomics” is used to encompass both genetics (individual genes) and genomics (all genes in a genome).

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