Lashley’s Essentials of Clinical Genetics in Nursing Practice, 2nd Edition

The practice of clinical genetics and genomics has infiltrated nearly every area of health care. Becoming competent in the use of genetic content begins in undergraduate and generic nursing education programs. Part I of the book discusses the place of genetics in health care and the health care trends related to genetics. The Human Genome Project (HGP) led to the establishment of the ethical, legal, and social implications (ELSI) programs of genetic research. The National Human Genome Research Institute (NHGRI) and the National Cancer Institute (NCI) collaborated on a series of articles to help nurse educators focus on genetics and genomics. The book then reviews of basic and molecular biology, a discussion of human variation and diversity, and gene action and types of inheritance. Minisatellites and microsatellites are often used interchangeably to denote Variable Number of Tandem Repeats (VNTRs) and Short Tandem Repeats (STRs). The polymerase chain reaction (PCR) laboratory technique amplifies large quantities of a specific segment of DNA. The topics of prevention of genetic disease, genetic testing, and treatment are presented, including aspects of genetic counseling. Typical Mendelian patterns of inheritance include autosomal recessive (AR), autosomal dominant (AD), X-linked recessive (XR), X-linked dominant (XD), and Y-linked inheritance. Part II applies these principles to areas of clinical nursing practice. Specific application of genetics and genomics in regard to pharmacology, history taking and physical assessment, maternal-child nursing, adult health and illness and medical-surgical nursing, psychiatric mental health nursing, policies, and social and ethical issues are all discussed. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic condition and is the most common enzyme abnormality known. The hepatic cytochrome P450 (CYP) enzyme system comprises a group of related enzymes known as a superfamily. The broad concepts are presented in a nursing context with selected disease examples and case examples.