Lowdermilk: Maternity & Womens Health Care, 10th Edition

Chapter 03: Clinical Genetics Key Points - Print This section discusses key points about genetics and genomics. o Recent advances in molecular biology and genomics have revolutionized the field of health care by providing the tools needed to determine the hereditary component of many diseases. Genetics is the study of individual genes and their effect on relatively rare singlegene disorders. Genes are the basic physical units of inheritance that are passed from parents to their children and contain the information needed to specify traits. Genomics is the study of all the genes in the human genome together, including their interactions with each other and the influence of the environment and other psychosocial and cultural factors. The genome is the entire set of genetic instructions found in each cell. o Increasingly, nurses from all specialty areas and practice settings are expected to have competencies in genetics and genomics. For nurses with expertise in these topics, expanded roles are developing in maternity and womens health nursing. o The Human Genome Project is the major force behind the genetics revolution. The Project uncovered two key findings: First, all humans are 99.9% identical at the deoxyribonucleic acid (or DNA) level. Second, about 20,500 genes are in the human genome. o Most genetic tests offered in clinical practice are tests for single-gene disorders in clients with symptoms or a family history of a genetic disease. Some genetic tests are prenatal tests or tests used to identify the status of a fetus at risk for a genetic disorder. o One clinical application of the Human Genome Project has been pharmacogenomic testing, in which genetic information is used to guide a clients drug therapy. o The decision to undergo genetic testing is often based on feelings of responsibility and commitment to others. Other factors that may affect the decision include social norms, location, socioeconomic status, and cultural and ethnic differences. This section provides critical points about clinical genetics. o Genes are the basic units of heredity responsible for all human characteristics. They comprise 23 pairs of chromosomes: 22 pairs of autosomes and 1 pair of sex chromosomes. o Chromosomal abnormalities are a major cause of reproductive loss, congenital problems, and gynecologic disorders. Abnormalities can occur in autosomes and sex chromosomes. o Autosomal abnormalities involve differences in the number or structure of chromosome pairs 1 through 22. They result from unequal distribution of genetic material through gamete formation. When a normal gamete unites with a gamete that has an extra chromosome, the result is a trisomy.

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The most common trisomy is Down syndrome. Other autosomal trisomies that maternity nurses may see are trisomy 18 (or Edward syndrome) and trisomy 13 (or Patau syndrome). Several sex chromosome abnormalities result from nondisjunction during gametogenesis. The most common deviation in females is Turner syndrome, in which an X chromosome is missing. The most common deviation in males is Klinefelter syndrome, in which an extra X chromosome is present. Most common congenital malformations result from multifactorial inheritance, which is a combination of genetic and environmental factors. Examples include cleft lip, cleft palate, congenital heart disease, neural tube defects, and pyloric stenosis. People acquire gene mutations that can lead to cancer in three main ways: First is through the environment, such as when exposure to tobacco smoke leads to lung cancer. Second is by chance when normal metabolic processes lead to DNA damage. Third is through inherited mutations from parents, which account for 5% to 10% of all cancers. Cancer genetics is an important emerging field, especially in breast, ovarian, and colon cancer. Advances in genetics have complex ethical, legal, and social implications. Through genetic counseling, professionals provide genetic information, education, and support to individuals and families with ongoing or potential genetic health concerns.