Chapter 3 Flashcards by Rachael Garland

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

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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

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Oncology Nursing Society provides oncology nurses with education and resources to integrate genetics into all phases of care

Online updates
Regional classes
Position statements

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All human beings are ____% identical at the DNA level

99.9%

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There are probably about ______ genes in the human genome

20,500

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Almost ____ genetic tests available, however

1900; family history cost effective, very important

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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

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predictive testing -

clarify genetic status of asymptomatic family members

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Presymptomatic testing - **

if gene mutation is present, symptoms will definitely eventually appear

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Predispositional testing - **

have a mutation that does not “have to” develop the condition; does not have 100% chance of developing condition

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What is in newborn screening in TN ?

Mat serum testing-neural tube defects, trisomy 13,18,21. Carrier-autosomal recessive: CF, SCD,Tay-Sachs

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Genotype- **

genetic makeup

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Phenotype- **

observable expression of a genotype- physical features

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Pharmacogenomics -

coumadin-CYP2C9 and VKORC1

- Using genetic variations to guide a client’s drug therapy

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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)

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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

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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,

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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

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Human development is a complicated process; depends on

systematically unraveling genetic material

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Development from conception to birth occurs without

incident in most cases

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Anomalies in the genetic code of the embryo create a

birth defect or disorder

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DNA -

forms chromosomes

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Chromosomes-

composed of gene

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genes -

determine persons unique characteristics

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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

Chapter 3 Flashcards

(63 cards)