Walden University Genetic Disorders Early Diagnosis Response

Genetics refers to the study of genes and the inheritance of certain traits or conditions from one generation to the next. Genomics describes the study of a person’s genome—which is all of that person’s genes. Genomics includes the scientific study of complex diseases. These diseases are typically caused by a combination of genetic and environmental factors than by the genes themselves (Genetics vs Genomics). Genetics and Genomics nursing is the focus on the actual and potential impact of influences on a patient’s health. These nurses advise, educate, and support patients and their families on influences that might impact and manage their health (Genetics/Genomics Nursing).

When my stepson was eight, he was diagnosed with pilomyxoid astrocytoma of the brain and spine. After two years of surgeries, radiation and chemo, what was left of the tumors were classified as scar tissue and treatment was complete. When the time came for my husband and I to have children, I was terrified. I would never willingly put another child through what we witnessed for those two years, not only with our own son, but other children in the chemo unit. Unfortunately, his type of cancer was “too new” to truly understand or identify a gene to determine if the cancer was hereditary at that time. It put a great deal of stress and guilt on me. I decided to stop trying to get pregnant. God had other plans for us and for that I’m thankful. If we would have had the opportunity to have genetic testing to identify that gene, it would have prevented years of anxiety. It would have prevented years of absolute fear when any of my children complained of headaches.

From a nursing perspective, it is our responsibility to document a thorough family health history with goal of early diagnosing and management of diseases. Doing so, this would optimize proper diagnostic screening, testing, and counseling. Genomics testing can increase the patient’s chance of successful treatment and detect the disease before symptoms begin. Nurses are a wonderful tool to initiate quality improvement, to educate health care personnel and family regarding a particular infection, and methods to prevent the spread of that infection. (Plavskin, 2016.)