Genetics – general mechanism of heredity and variation of inherited traits Genomics – function of all DNA

DNA Genome (has 20,000 to 25,000 individual genes) Chromosome

Bases (A) adenine (G) guanine (C) cytosine (T) thymine Nucleotide

DNA must reproduce itself (replicate) every time a cell divides

Carrier testing Diagnostic testing Symptomatic Presymptomatic Predisposition

Specific large chunk of highly condensed double-stranded DNA Forms and moves to center of cell about to divide Humans have 46 chromosomes, divided into 23 pairs

Organized arrangement of chromosomes in one cell during metaphase

Genes for sexual differentiation of a person Male = X and Y Chromosomally normal = XX

Characteristics can be observed or determined by laboratory test

The actual alleles for a trait—not just what can be observed

Process of using genes to make proteins needed for physiologic function

Small variations in gene sequence Changes passed from one generation to another

Graph of family history for specific trait/health problem over several generations

Is any pattern of inheritance recognized, or does the trait appear sporadic? Is the trait expressed equally or unequally among male and female family members? Is the trait present in every generation or does it skip one or more generations? Do only affected people have children affected with the trait?

Autosomal dominant (AD) Penetrance Expressivity Autosomal recessive (AR) Sex-linked recessive Complex inheritance and familial clustering

Communication Privacy and confidentiality Information accuracy Patient advocacy and support

Chapter 6 23

Question 1 According to the CDC, approximately how many genetic tests have been developed for how many diseases? A.500 B.1200 C.2200 D.5000

Question 2 Which patient would be considered to have the greatest genetic risk for developing a disease or disorder? A.60-year-old woman whose mother and sister both developed breast cancer after age 65 years B.55-year-old man whose father and two brothers all experienced myocardial infarctions after age 60 years C.40-year-old woman whose mother died of breast cancer at age 38 years and whose sister developed the disease at age 41 years D.19-year-old woman whose mother was recently diagnosed with ovarian cancer

Question 3 The nurse should apply knowledge of genomic health care to which patient population when providing education about drugs such as warfarin (Coumadin)? A.Asian B.Black C.Caucasian D.Hispanic/Latino