The study of the function and effect of single genes that are inherited by children from their parents
Genetics
The study of individual genes in order to understand the structure of the genome, including mapping of genes and sequencing the DNA
Genomics
Chemical inside nucleus that that holds genetic information; “blueprint”
DNA
The DNA segments that carry the genetic information
Genes
Long structures that organize DNA
Chromosomes
DNA Bases
Adenine, Guanine, Cytosine, and Thymine
Alterations in the usual sequence of bases that form a gene or changes in DNA or chromosomal structures
Mutations
Process in which 99.9% of mutations are corrected
DNA Repair
GINA
Genetic Information Nondiscrimination Act
What is the purpose of GINA?
to inhibit the improper use of genetic information in health insurance and technology
Challenges in Genetic Testing
- refusal by patient or family members
2. no reimbursements from insurance companies
What are reasons that people would refuse genetic testing?
- Think it might decrease their quality of life or make them anxious about the future
- Fear that a positive result will bring feelings of guilt in passing down the disease
Genetic Red Flags
- family history of multiple affected family members
- onset at an earlier age than expected
- occurrence in the gender least expected to have it
- occurrence in the absence of known risk factors
- ethnic predisposition
- close biological relationship between parents
Examples of Multifactorial Disorders
- neural tube defects
- cleft lip, palate
- type I and II diabetes
- breast, colon, and lung cancer
- alcoholism
- MS
- asthma and allergies
- autoimmune disorders
- schizophrenia
- obesity
- PUD
- gout
- kidney stones and gall stones
Nursing Roles in Genetics
- referrals
- collecting family history and creating a genome
- scheduling genetic testing
- explaining the purposes and risks/benefits of testing
True or False: Genetic testing is diagnostic.
False–it is indicative
When is the sex of the offspring determined?
At the time of fertilization
What inheritance pattern does Huntington’s Disease follow?
Autosomal Dominant
How should nurses present potential genetic concerns?
in a non-directive manner
