Chapter 3 Flashcards
Essential competencies for all nurses
- Constructs pedigree from collected family history using standardized symbols and terminology
- Develops plan of care that incorporates genetic and genomic assessment information
- Recognizes when one’s own attitudes and values may affect care provided to clients
- Provides clients with credible, accurate, appropriate, and current genetic and genomic information, resources, services, and/or technologies
- Demonstrates in practice the importance of tailoring genetic information to clients based on ethical, ethnic/ancestral, cultural, religious, legal, fiscal, and societal issues
- Assesses client’s knowledge, perceptions, and responses to genetic and genomic information
- Facilitates referrals for specialized services
Developing in many areas of maternity and women’s health nursing
- Perinatal screening and testing
- Neonatal screening and testing
- Palliative care for infants with genetic conditions
- Care of women with genetic disorders during pregnancy
- Identification and care of individuals with genetic conditions
Oncology Nursing Society provides oncology nurses with education and resources to integrate genetics into all phases of care
Online updates
Regional classes
Position statements
All human beings are ____% identical at the DNA level
99.9%
There are probably about ______ genes in the human genome
20,500
Almost ____ genetic tests available, however
1900; family history cost effective, very important
Gene identification and testing
Maternal serum screening Fetal ultrasound or sonograms Invasive procedures Carrier screening tests Predictive testing Presymptomatic testing Predispositional testing RNA Chromosomes Direct or molecular testing Linkage analysis Biochemical testing Cytogenetic testing Prenatal tests
predictive testing -
clarify genetic status of asymptomatic family members
Presymptomatic testing - **
if gene mutation is present, symptoms will definitely eventually appear
Predispositional testing - **
have a mutation that does not “have to” develop the condition; does not have 100% chance of developing condition
What is in newborn screening in TN ?
Mat serum testing-neural tube defects, trisomy 13,18,21. Carrier-autosomal recessive: CF, SCD,Tay-Sachs
Genotype- **
genetic makeup
Phenotype- **
observable expression of a genotype- physical features
Pharmacogenomics -
coumadin-CYP2C9 and VKORC1
- Using genetic variations to guide a client’s drug therapy
Gene therapy -
Inserting a healthy copy of the defective gene into somatic cells (any cell except sperm or egg)
(used to correct a long list of inherited diseases)
Ethical, legal, and social implications (ELSI)
- Privacy and fairness in use and interpretation of genetic information
- Clinical integration of new genetics technologies
- Issues such as possible discrimination and stigmatization
- Education for professionals and general public about genetics, genetic health care, and ELSI of human genome research
major risk associated with genetic testing concerns with the information gained through testing; results in
Increased anxiety, altered family relationships, ability to treat identified condition,informed consent-unknowns,
Factors influencing the decision to undergo genetic testing -
- Seldom an autonomous decision based on the needs of the individual
- Feelings of responsibility and commitment to others
- Cultural and ethnic differences
Human development is a complicated process; depends on
systematically unraveling genetic material
Development from conception to birth occurs without
incident in most cases
Anomalies in the genetic code of the embryo create a
birth defect or disorder
DNA -
forms chromosomes
Chromosomes-
composed of gene
genes -
determine persons unique characteristics
Homologous -
Matched; 23 pairs
Autosomes -
22 pairs; control most traits in the body
sex chromosomes -
one pair (x - female, y - male)
loci -
located in the same place place on the two chromosomes
alleles -
genes at corresponding loci on homologous chromosomes that code for different forms or variations of the same trait
All human normal somatic cells contain *
46 chromosomes, which are arranged as 23 homologous (matched) chromosomes
One chromosome of each pair is inherited *
from each parent
what is inherited from each parent *
22 pairs of autosomes (control most traits) and one pair of sex chromosomes
XX **
female
XY **
male
Homozygous-
same number and arrangement of genes (except the X and Y)-partner has same gene(eye color) two copies of same trait
Heterozygous-
two different alleles
Dominant-
considered dominant if it is expressed or phenotypically apparent when only one copy of an allele is associated with the trait present
Recessive-
considered recessive if it is expressed only when to copies of the alleles associated with the trait are present
Abnormalities of chromosome structure -
Translocations,,Deletions, Insertions
Insertions-
extra
Deletions –
loss of material (monosomy)
Translocations-
exchange of chromosomal material between two chromosomes
Chromosomal Abnormalites
Major cause of reproductive loss, congenital problems, and gynecologic disorders
Chromosomal Abnormalites Incidence
is 0.6% in newborns, 6% in stillbirths, 60% in spontaneous abortions
Autosomal abnormalities-
differences in number or structure of autosome chromosomes (pairs 1-22) result is unequal distribution of genetic material; Most common is trisomy
Trisomy -
product of the union of a normal gamete with a gamete containing an extra chromosome; most common down syndrome; 13 & 18 usually don’t live
Sex chromosome abnormalities -
Turner syndrome, Klinefelter syndrome
Turner syndrome-
Monosomy X female (missing one chromosome)
Klinefelter syndrome-
Trisomy XXY male (extra chromosome)
Multifactorial inheritance -
combination of genetic and environmental factors
Unifactorial inheritance-
single gene controls a particular trait or disorder; Autosomal dominant inheritance, Autosomal recessive inheritance, Inborn errors of metabolism-(IEM), X-linked Dominant Inheritance, X-linked Recessive Inheritance, Fragile X syndrome
Autosomal dominant inheritance-
of only need one copy of variant allele for expression
Autosomal recessive inheritance-
both sets of genes needed (carriers)
Inborn errors of metabolism-(IEM)-
autosomal recessive-gene mutation reduces efficiency of encoded enzymes –so normal series of chemical reaction cannot occur (phenylketonuria, Tay-Sachs disease, Infantile Krabbe’s disease)
phenylketonuria -
deficiency in the liver enzyme phenylalanine hydroxylase results in failure to metabolize the amino acid phenylalanine, therefore accumulates in the blood
Tay-Sachs -
lipid storing disease; no treatment, death 3-4 years
Infantile Krabbe’s disease -
lysosomal storage disorder characterized by failure of the process of myelination in the central and peripheral nervous systems, death often before 2 years
X-linked Dominant Inheritance -
Can only occur if father has Klinefelter
X-linked Recessive Inheritance-
carried on X, females can be heterozygous or homozygous, males hemizygous because only 1 X-usually manifested in male-color blindness, hemophilia, Duchenne MD
Fragile X syndrome -
fragile x mental retardation
Genes mutations that can lead to cancer -
- Environmental factors: (UV light, smoke)
- Chance
- Inherited
Hereditary breast and ovarian cancer
BRCA 1 or BRCA 2
Colon cancer
Third leading cause of cancer deaths among women
