6.2 Role of Genetics in Nursing Practice Flashcards
1
Q
DOMAINS OF GENETICS
A
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2
Q
Application and Integration
A
- Demonstrates understanding of relationship between genetics and genomics to health, prevention, screenings, diagnostics, prognostics, selection of treatment, and monitoring of treatment effectiveness.
3
Q
Application and Integration
A
- Elicits minimum of 3 generations of family health history information
- Collects family history information with standardized symbols and terminology
- Collect health history with genetics in mind and risks/influences
- Conduct physical assessments while incorporating genetic risks/influences
- Analyze assessment findings with genetics in mind
- Assess patients knowledge of genetics
- Develop care plan that incorporates genetics
4
Q
Identification
A
- Identify patients who would benefit from genetic services
- Identify ethical/cultural/religious/legal/societal issues related to genetic and genomic information
5
Q
Education/Care/Referral/Support
A
- Provide patients with interpretation of genetic information
- Facilitate in decision-making
- Promote disease prevention practices to improve patient outcomes
- Collaborate with healthcare providers and insurance payers
6
Q
Genetic Testing
A
- Identifies change in genes/chromosomes/proteins
- Results can confirm or rule out genetic conditions, or determine the likelihood that a patient would develop or transmit that disorder
- Usually done by saliva/blood test
7
Q
Considerations of genetic testing
A
- Clinical/Analytical Validity/Utility
- Specificity
- Sensitivity
- True positive and True negative
- False negative and false positive
- Cost and insurance coverage
- Turn-around time (TAT)
- Detection Rate (DTR) determining what is the best test
- Availability/institutional preference
8
Q
GENETIC TEST RESULTS
A
9
Q
Positive
A
- Indicates pathogenic genetic variants were identified
10
Q
Negative
A
- Benign/Normal
- No pathogenic variants were discovered
- Does not eliminate the possibility of hereditary cause
11
Q
Variant of Uncertain Significance (VUS)
A
- Genetic change was identified
- Associated with disease is unknown
- Easy to find genetic changes but interpretation is difficult
12
Q
Unexpected/Secondary
A
- Results indicate association with other health conditions, consanguinity, or non-paternity
13
Q
Genetic Testing Treatment Implications
A
- Early intervention/treatment
- Avoidance of certain substances/exposures
- Screening/management changes
- Prophylactic procedures
- Targeted Gene Therapy (pharmacogenomics)
- Gene Editing (not there yet)
- Treating other at risk family members
- Reproductive implications
- Pregnancy management decisions
- Pre-implantation genetic diagnosis (PGD)
14
Q
Evaluation of Genetic Disorders
A
When to suspect genetic disorder
- 2+ medical conditions/body systems affected (bilateral disease)
- 2+ major birth defects/3+ minor birth defects
- Learning/Developmental/Intellectual delay/disability (autism)
- Unexplained neurological conditions that are progressive (seizures)
- Dysmorphic features
- Unexplained cardiomyopathy, cardiac defects, early onset for MI, strokes, aneurysms
- Sudden death in healthy individual
- Consanguineous couple (incest)
- Short stature (growth restriction or retardation)
- Connective tissue disorder
- Bilateral hearing loss
- Bilateral vision loss
15
Q
Prenatal/Perinatal Genetics
A
Preformed preconception with focus on family history
INDICATIONS FOR TESTING
- Advanced age 35+
- Abnormal genetic screening during pregnancy
- Abnormal ultrasound findings
- Teratogens
- Infertility (three or more miscarriages or stillbirths)
