Genetic disorders can be the result of genetic abnormalities such as gene mutation or additional chromosomes. The effects of abnormalities in an individual’s DNA were once entirely unpredictable. However, modern medicine has produced methods of identifying the potential health outcomes of genetic disorders, as evidenced by medical research from educated, advanced-degreed nurse practitioners and practicing physicians. By collecting the following evidence-based statistical observations, these professionals have identified some of the current best practices for detecting, treating, and potentially preventing some genetic disorders.
Typically, the nucleus of an individual cell contains 23 pairs of chromosomes, but Down syndrome occurs when the 21st chromosome is copied an extra time in all or some cells. Nurse practitioners and physicians commonly perform detailed prenatal screening tests, like blood tests, that detect quantities of chromosomal material and other substances in a mother’s blood. This type of testing can determine, with high accuracy, whether or not a child will be born with Down syndrome. When a person is diagnosed with Down syndrome, they are likely to exhibit varying levels of mild to severe cognitive delays. Other markers of Down syndrome include a higher disposition for congenital heart defects, low muscle tone, smaller physical stature, and an upward slant to the eyes. According to the Centers for Disease Control and Prevention (CDC), approximately one in every 700 babies born in the US will have Down syndrome. Also, the older a mother is at the time of birth, the more likely the child is to have Down syndrome. 
Thalassemia is a family of hereditary genetic conditions that limits the amount of hemoglobin an individual can naturally produce. This condition inhibits oxygen flow throughout the body. There is a 25 percent chance that children who inherit the Thalassemia gene from both parents will be born with Thalassemia. People who are especially likely to be carriers of the faulty gene that is responsible for Thalassemia include those of Southeast Asian, Indian, Chinese, Middle Eastern, Mediterranean, and Northern African descent. With any form of Thalassemia usually comes severe anemia, which may require specialized care such as regular blood transfusions and chelation therapy.
Cystic Fibrosis is a chronic, genetic condition that causes patients to produce thick and sticky mucus, inhibiting their respiratory, digestive, and reproductive systems. Like Thalassemia, the disease is commonly inherited at a 25 percent rate when both parents have the Cystic Fibrosis gene. In the United States, there are close to 30,000 people living with Cystic Fibrosis, and they frequently develop greater health problems. For instance, 95 percent of male Cystic Fibrosis patients are sterile, and the median age of survival for all patients is 33.4 years. Educated nurse practitioners can extend the typical patient’s survival time by offering effective care strategies that feature physical therapy, as well as dietary and medical supplementation.
The genetic condition known as Tay-Sachs is carried by about one in every 27 Jewish people, and by approximately one of every 250 members of the general population. The condition is caused by a chromosomal defect similar to that of Down syndrome. Unlike Down syndrome, however, Tay-Sachs results from a defect found in chromosome #15, and the disorder is irreversibly fatal when found in children. Tay-Sachs disease gradually destroys the nervous system, frequently resulting in death by age five. Adults can also be diagnosed with Late-Onset Tay-Sachs disease, which causes a manageable level of diminished cognitive ability. While detecting Tay-Sachs can be accomplished by using enzyme assay methods or DNA studies, an option does exist to prevent the risk entirely. Assisted reproductive therapy techniques can be conducted that test in-vitro embryos for Tay-Sachs before implanting them into the mother. This can allow only healthy embryos to be selected.
Sickle Cell Anemia
Sickle Cell Disease is a lifelong genetic condition that may be inherited when the Sickle Cell trait is passed down by both parents to their children. The trait is more commonly inherited by people with a sub-Saharan, Indian, or Mediterranean heritage. Sickle Cell Disease causes red blood cells to change from their usual donut shape to a sickle shape. This causes the cells to clump together and become caught in blood vessels, triggering severe pain and serious complications such as infections, organ damage, and acute respiratory syndrome. According to the CDC, Sickle Cell Disease affects approximately 100,000 Americans. Additionally, one in every 365 African-American babies is born with Sickle Cell Disease. In contrast, one in every 16,300 Hispanic-American babies is diagnosed with the disease. Modern advancements in medicine have limited the mortality rate of Sickle Cell Disease by providing a greater variety of vaccines and treatment options.
Giving birth to a child with a genetic condition can be concerning for parents, but effective ongoing care from trained nursing professionals can significantly ease the impact. Through a Doctor of Science in Nursing program, nurse practitioners can expand their knowledge and practical ability to confront and mitigate these disorders. By adding new expertise in the leading-edge detection, prevention, and treatment of genetic disorders, advanced-degreed nurses can play a key role in helping parents, children, adult sufferers, and society at large.
Health care is a dynamic and ever-evolving field, and more is now expected of nurse leaders. In fact, the American Association of Colleges of Nursing (AACN) has called for a doctoral level education to become the requirement for advanced practice nursing. Earning an online Doctor of Nursing Practice (DNP) puts MSN-credentialed nurses like you at the forefront of the industry — prepared for leadership, nurse education, patient care, and to shape future policies and procedures in health care.
1. NIH – How are genetic conditions treated or managed?
2. NIH – What information about a genetic condition can statistics provide?
3. NIH – Genetic Disorders
4. National Human Genome Research Institute
5. National Down Syndrome Society
6. Centers for Disease Control and Prevention – Down Syndrome
7. The Demographics of Thalassemia
9. Cystic Fibrosis News Today
10. National Human Genome Research Institute – Learning About Tay-Sachs Disease
11. Centers for Disease Control and Prevention – Sickle Cell Disease
12. Centers for Disease Control and Prevention – Incidence of Sickle Cell Trait in the US