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Medical-Surgical Nursing

Summary

Medical-Surgical NursingSummary

30.1 Genetic Disorders

  • Genetics refers to the study of heredity, focused on patterns of inheritance of specific characteristics or traits, including variations of a trait within a population.
  • Although there is a considerable amount of genetic variation among humans, any two people’s genomes are about 0.4 percent different, and these genomic variants are what make individuals unique.
  • Genetic conditions are conditions caused by a single gene mutation, such as sickle cell disease, whereas chromosomal conditions are caused by an incorrect number or structure of chromosomes, such as Down syndrome.
  • Genomics is the study of genes and how they interact with each other and the environment.
  • A genomic approach to health care uses knowledge about genetic variation and environmental effects to augment the planning and provision of health care to individuals, families, and the community.
  • Essential nursing practice concepts in genomics include integrating knowledge, demonstrating understanding, obtaining a comprehensive patient and family history, making appropriate referrals, and providing patient education and support.
  • Pharmacogenetics and pharmacogenomics are two very new terms in the realm of health care, which overall refer to an area of research examining how genes affect the response to medications.

30.2 Patterns of Inheritance and Mutations

  • Each human body cell has a full complement of DNA stored in twenty-three pairs of chromosomes; each of these chromosomes carries up to thousands of genes, each of which codes for the assembly of a particular protein.
  • An individual’s complete genetic makeup is referred to as their genotype; the characteristics that the genes express, whether they are physical, behavioral, or biochemical, are a person’s phenotype.
  • The pattern of inheritance describes the way certain conditions are passed from parent to offspring through a single gene. These include autosomal, dominant, x-linked, mitochondrial, Y-linked, and codominant patterns.
  • Certain combinations of alleles can be lethal, meaning they prevent the individual from developing in utero, or cause a shortened life span.
  • Mutations can arise spontaneously from errors during DNA replication, or they can result from environmental insults such as radiation, certain viruses, or exposure to tobacco smoke or other toxic chemicals; mutations can also be beneficial and aid in survival in a changing environment.
  • A point mutation is when a single nucleotide in a DNA sequence is substituted by another nucleotide; it may or may not have an effect on the expressed protein.
  • Frameshift mutations, caused by insertions or deletions of a number of nucleotides that are not a multiple of three, are extremely problematic because they cause a shift in the reading frame.
  • Nursing practice considerations include nursing assessment and analysis of findings to identify risk factors; on completion and review of the assessment, results should be shared, and appropriate referrals provided. If a risk for an inherited disorder is identified, referrals may include genetic counseling and/or genetic testing.

30.3 Testing and Detection

  • Genetic testing identifies mutations in a person’s DNA and can provide guidance in the type of medical care a person receives.
  • The first step for assessing genetic/genomic risk involves collection of data through taking a thorough personal and family health history, physical examination, and review of additional information, such as laboratory or radiology reports.
  • If the history reveals red flags related to risk for inherited disorders, a referral for genetic counseling is indicated.
  • Advances in genetic and genomic knowledge have generated complex ethical and legal issues related to health care.
  • An expanded area of research, referred to as genome-wide association studies (GWAS), aims to identify common genetic factors that influence health and disease.
  • Nurses are called upon to integrate genetic and genomic knowledge and principles into the scope of practice, including understanding of ELSI concerns: informed decision-making, informed consent for genetic testing, consent related to genetic/genomic research, privacy and confidentiality, discrimination prevention, and the addressing of cultural or religious considerations.
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