Genetic & genetic counseling

• Genetics is a branch of biology concerned with the study of genes, genetic variations, and heredity in living organisms
• Genomics is the study of the human genome, including gene sequencing, mapping, and function
• Karyotyping is a test to examine chromosomes in a sample of cells to identify genetic problems as the cause of a disorder or disease
• Genetic testing is the primary tool used to identify individuals predisposed to specific genetic diseases
• Genetic screening applies to testing of populations or groups independent of positive family history or symptom manifestation
• Genes are the basic physical units of inheritance passed from parents to offspring
• Genome is the entire set of genetic instructions found in a cell
• Chromosomes are microscopic structures in the cell nucleus that contain genetic information and are constant in number in a species
• DNA is the primary genetic material in humans consisting of nitrogenous bases, sugar group, and phosphate, combined into a double helix
• Allele is a variant form of a gene
• Mitosis is the process of cell division that occurs in somatic cells resulting in daughter cells with the same number of chromosomes
• Meiosis is the reduction division of diploid egg or sperm resulting in haploid gametes
• Gene mutations are heritable alterations in genetic material
• Genetic variation is the variation in the degree to which a trait is manifested, including clinical severity
• Chromosomal differences are a major cause of birth defects, mental retardation, and malignancies, such as Down syndrome and Turner's syndrome
• Genotype refers to the genes and variations that a person inherits from their parents
• Phenotype is a person's entire physical, biochemical, and physiologic makeup as determined by their genotype and environmental factors
• Trisomy 21, 18, and 13 are genetic conditions
• The Human Genome Project is an international research effort aimed at identifying and characterizing the order of every base in the human genome
• Genetic counseling is a communication process dealing with human problems associated with the occurrence or risk of a genetic disorder in a family
• Genetic counseling assists individuals in interpreting facts related to choices, plans, or adjustments needed to be made
• Genetic counseling translates personal genetic risk information into practical information for families
• Genetic counseling makes patients or their relatives at risk of a genetic disorder aware of the consequences of the disorder, its transmission, and ways to prevent or mitigate it
• Nurses must understand new technologies and treatments of genetic and genomic-based healthcare
• Nurses are a vital link between patients and healthcare services, often the first point of contact for questions and information
• Nurses must recognize and appropriately deal with ethical issues related to genetics