Genetics and Genomics Flashcards

1
Q

Define genetics

A

study of the function and effect of a single genes that are inherited by children from their parents

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2
Q

Define genomics

A

Study of individual genes in order to understand the structure of the genome

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3
Q

*Difference between genetics and genomics

A

Genetics: looking at a specific person and their genes
Genomics: looking at a specific gene to find the overall picture/structure

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4
Q

*What are the four bases of DNA

A
  • adenine
  • Thiamine
  • Guanine
  • Cytosine
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5
Q

What year was the structure of DNA identified

A

1953

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6
Q

When did the mapping of the human genome take place (start-finish)

A

1988-2003 human genome project

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7
Q

How identical are humans genetically and how different are they?

A

99.9% identical

Nearly 25,000 genes make up the 0.01% differences

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8
Q

idications for gene/DNA testing

A
  • predicting developmental disorders
  • screening populations
  • confirming clinical dx
  • prenatal testing
  • development of individualized medicine treatment
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9
Q

Current issues in genomics and genetics

A
  • importance of family medicle history
  • providing appropriate support and education regarding genetic risk factors
  • multifactorial influences
  • multifactorial diseases
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10
Q

Ethical and legal considerations

A
  • Employer discrimination
  • Any discrimination
  • Confidentiality
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11
Q

*Genetic Information Nondiscrimination Act (GINA)

A

2009 act designed to prohibit the improper use of genetic information in health insurance and employment

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12
Q

*Personalized health care

A

The potential for genomics to enable medicine to be tailored to a persons needs

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13
Q

*Personalized health care examples

A

-Texting DNA to determine which meditations will work best for an individual regarding depression, anxiety, schizophrenia

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14
Q

What is Evaluation of Genomic Applicaitons in Practice and Prevention Working Group (EGAPP)?

A

A group who suggests/determines how to appropriately test and evaluate DNA

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15
Q

Genomic competancies for the public health workforce

A
  • Basic knowledge in the role genomics plays in disease development
  • Know limits of their genomic expertise
  • Makes appropriate referrals

NCHPEG say understand cell bio, molecular genetics, genetic tech, ect

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16
Q

Professional practice domain for an RN r/t genetics and genomics

A
  • demonstrate understanding of genomics
  • Get at least a 3gen family history
  • construct a pedigree
  • Collect histories considering genetic, environment, and genomic influences on risk
  • Critically analyze history
  • Asses clients knowledge
  • Develop a plan of care incorporating genomics
17
Q

*Steps to mapping out a pedigree

A
  • Talk to family and client, ask questions
  • Draw a basic outline of a family tree
  • Record all you now about each member
    • age, DOB
    • cause of death
    • medical dx, date of dx
    • ancestral origin
18
Q

Genetic red flags

A
  • History of the same disorder in multiple people in the same family
  • Disease has an onset earlier than expected
  • Ethnicity risk similar (mom/dad)
19
Q

Rn provides what r/t genetics/genomics

A
  • explanation/interpretation of services
  • information, resources and technologies
  • education
  • referrals