Nursing & Genomics PDF

Chapter 3 Nursing & Genomics 1. a. b. c. Define these terms: Genetics → refers to the study of a particular gene. Genomics → refers to the study of all the genes in the entire genome. Gene → are the basic physical units of inheritance that are passed from parents to offspring and contain the informa...

Chapter 3 Nursing & Genomics 1. a. b. c. Define these terms: Genetics → refers to the study of a particular gene. Genomics → refers to the study of all the genes in the entire genome. Gene → are the basic physical units of inheritance that are passed from parents to offspring and contain the information needed to specify traits. d. Genome → is the entire set of genetic instructions found in a cell. e. Karyotype (what is normal female & normal male?) → The pictorial analysis of the number, form, and size of an individual’s chromosomes f. chromosome → This material, called DNA, forms threadlike strands known as chromosomes. 2. What was a key finding of the Human Genome Project? The Human Genome Project was a publicly funded international effort coordinated by the NHGRI (https://www.genome.gov/human-genome-project) at the NIH and the US Department of Energy. When the Human Genome Project was initiated in 1990, the ultimate goal of the project was to map the human genome (the complete set of genetic instructions in the nucleus of each human cell) by 2005. Considering that the human genome consists of approximately 3 billion base pairs of DNA, many people regarded this as an impossible task. However, in 2003 an accurate and complete human genome sequence was finished and made available to scientists and researchers. 3. Review Sherpath Lesson: Prenatal Testing and take notes as needed. Do we need to include the notes on the ALG? 4. What are some of the ethical, legal, & social implications (ELSI) of genetic testing? Because of widespread concern about misuse of the information gained through genetics research, a percentage of the Human Genome Project budget was designated for the study of the ethical, legal, and social implications (ELSI) of human genome research. Two large ELSI programs were created to identify, analyze, and address the ELSIs of human genome research at the same time as basic science issues were being studied. One of the programs was at the National Human Genome Institute, and the other was at the US Department of Energy (https://web.ornl.gov/sci/techresources/Human_Genome/research/elsi.shtml). For years, they focused on the following consequences of genomic research:     Privacy and fairness in the use of genetic information, including the potential for genetic discrimination in employment and insurance The integration of new genetic technologies, such as genetic testing, into the practice of clinical medicine Ethical issues surrounding the design and conduct of genetic research with people, including the process of informed consent The education of health care professionals, policy makers, students, and the public about genetics and the complex issues that result from genomic research. The major risk associated with genetic testing concerns what happens with the information gained through testing. It may result in increased anxiety and altered family relationships; it may be difficult to keep confidential; and it may result in discrimination and stigmatization. More important, there is a large gap between the ability to test for a genetic condition and the ability to treat that same condition. Informed consent is difficult to ensure when some of the outcomes, benefits, and risks of genetic testing remain unknown. Also, many of the tests being used are imperfect—few have a 100% detection rate. Individuals and families who receive false-positive results (the test results indicate that a fetus is affected by a genetic condition when he or she is not) may consider the option of terminating an unaffected pregnancy, although this depends on the laws in various states, which are changing. In addition, a person may undergo unwarranted extreme measures such as bilateral prophylactic mastectomy. Individuals and families who receive false-negative results (the test results indicate that a person or fetus is not affected by a genetic condition when he or she is) may fail to follow surveillance strategies designed to improve their health outcomes because they have been falsely reassured that they are not at increased risk for a specific condition. 5. Define these terms: a. Monosomy → is the product of the union between a normal gamete and a gamete that is missing a chromosome. Monosomic individuals have only 45 chromosomes in each of their cells. b. Trisomy → The product of the union of a normal gamete with a gamete containing an extra chromosome is a trisomy. The most common autosomal aneuploid conditions involve trisomies. Trisomic individuals have 47 chromosomes in most or all of their cells. c. Mosaicism → In the third type of Down Syndrome, mosaicism, extra chromosome 21 material is found in some, but not all, of the cells. Only 1% to 2% of individuals with DS have mosaicism. 6. What is the primary role of the nurse in genetics? Because of their front-line position in the health care system and their long-standing history of providing holistic family-centered care, nurses are likely to be some of the first health care professionals to whom individuals and families turn with questions about genetic risk and susceptibility and to seek guidance regarding the complexities of genetic testing and interpretation. Nowhere is this more apparent than in maternity and women’s health care. A growing number of nurses provide information about the availability of genetic tests, answer questions about the tests, and help clients and families interpret genetic testing results. Although most of these tests are used to determine a woman’s risk for having a child affected by a genetic condition with a childhood onset such as Down syndrome (DS), cystic fibrosis (CF), sickle cell disease (SCD), or spinal muscular atrophy (SMA), the number of genetic tests used to determine the presence of, or susceptibility to, adult-onset disorders (e.g., hereditary breast and ovarian cancer [HBOC] and Huntington disease [HD]) continues to rise. Additionally, nurses working in maternity and women’s health are caring for an increasing number of individuals and families who are dealing with the complex ethical, legal, and social issues associated with being tested for and living with a genetic condition (Choi, Van Riper, Jang, & Han, 2018. Practice question Chapter 3 1. A pregnant woman, 40 years old, undergoes testing to detect the presence of Trisomy 21 (Down Syndrome). The fetal chromosomes are arranged and photographed to facilitate diagnosis. The picture is called a: a. Chromosome type b. Karyotype c. Genotype d. Phenotype