Knowledge is the basis of understanding and in nursing the foundation of practice. Genomics is defined as the study of all the genes in the human genome together, including their interactions with each other, the environment, and the influence of other psychosocial and cultural factors. Genetics and genomics includes understanding the implications of its significance in patient’s lives, thus the meaning of genomics in health is a critical aspect of nursing practice. Understanding the genetic component of diseases requires knowledge of fundamental genetic science. It is critical that nurses understand the ethical, legal and social implications that arise when genomics becomes part of health care practice. Nursing is a practice discipline and so it is by actions that nurses manifest their professionalism. It requires an awareness and appreciation for the complexities and uniqueness of genetic information. Nurses must act with the greatest sensitivity and discretion in managing genetic information and privacy and confidentiality are always important in health care it is difficult to overstate their importance relative to genetic information of a patient. Protecting the privacy and confidentiality of patient information is the role of the nurse in obtaining informed consent for any procedure that requires the collection and analyzing of an individual’s DNA.
Down Syndrome (DS) is caused by a complete or segmental triplication of human chromosome 21 (HSA21) and is the most frequent genetic cause of intellectual disability. People with DS present with developmental abnormalities and has systemic alterations in the peripheral system, as well as neurological and cognitive deficits. In 2020, the National Institutes of Health (NIH) announced that they would update their DS research plan and requested input from the research and the non-profit/family advocacy communities. Inglis et al. have distributed a questionnaire to members of the Lower Mainland Down Syndrome Society in British Columbia, Canada. It was completed by 101 parents. 41% responded that they would biologically treat their child of DS if it were possible. 27% said they would not biologically treat their child, and 32% were unsure. The major motivation for a treatment was to increase the child’s autonomy. Society’s interaction with these persons could change and that might make a whole lot of difference.
Educate patients/ families about genetics, provide with credible accurate and appropriate genetic and genomic information resources to facilitate decision making. Advocate for clients access to desired genetic/genomic services and/or resources including support groups. Advocate for the rights of all clients for autonomous, informed genetic and genomic-related decision making and voluntary action. Recognize and acknowledge the role of genomics as an integral component in the promotion of the public’s health and wellbeing. Advocate and promote the right of the individual or family to voluntarily choose or to not choose to seek genomic healthcare services. Nurses have entered the post-genomic age as professionals expected to engage with the public and provide informed up-to-date genetic information and competencies.
Inglis A, Lohn Z, Austin JC, et al. A “cure” for Down syndrome: what do parents want? Clin Genet. 2014;86:310–317.
Petersen M.E., O’Bryant S.E. Blood-based biomarkers for Down syndrome and Alzheimer’s disease: A systematic review. Dev. Neurobiol. 2020;79:699–710. doi: 10.1002/dneu.22714.
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