MI Quiz 4 Genetic Testing

RN's are responsible for ____

• The disease must be serious and common, and treatable in some form

  The test has to be accurate, reliable - sensitivity and specific-positive predictive value

  The screening program needs to available to all individuals who could benefit from it

  Cascade Screening

• Alternative to standard karyotype analysis

  Can identify submicroscopic deletions and duplications, copy number variants

  Can identify SNPs

  May identify genetic variations about which we have very little information

  Considered 1st tier test for children with neurodevelopmental concerns

• Keep up to date on information that relates to your field

  Know basic terms

  Understand basic patterns of inheritance

  Understand genetic tests commonly used in your practice area

  Assess your patient's family 's understanding of genetic concerns

  Don't hesitate to seek help. Genetics is a rapidly changing field

• The disorder should be treatable

  Follow-up care should be accessible to families

  Families need to be educated before testing is done

  The screening nature of the test should be emphasized

What do genetics tests measure?

• Karyotype-number and structure of chromosomes

  Specific mutation

  Products of genes

  Single Nucleotide

  PolymorphismsGenome

• Blood

  Cheek (buccal) swabs

  SalivaSkin cells

  Hair follicles

• Establishing a diagnosis

• Expanded Carrier Testing

Tags

NGSS.HS-LS1-1

The sample for genetic testing includes...

• Karyotype-number and structure of chromosomes

  Specific mutation

  Products of genes

  Single Nucleotide

  PolymorphismsGenome

• Blood

  Cheek (buccal) swabs

  SalivaSkin cells

  Hair follicles

• Establishing a diagnosis

• Expanded Carrier Testing

Tags

NGSS.HS-LS3-1

NGSS.HS-LS3-2

What is a diagnostic test?

• Confirms a disorder or the presence of a specific mutation

• Calculates the risk of having a disorder or mutation

• Positive, negative, unknown or margin of error

• What is the cost of the test and who will pay for it?

What is a screening test?

• Confirms a disorder or the presence of a specific mutation

• Calculates the risk of having a disorder or mutation

• Positive, negative, unknown or margin of error

• What is the cost of the test and who will pay for it?

In addition to diagnostic and screening tests, there is also...

• Confirms a disorder or the presence of a specific mutation

• Calculates the risk of having a disorder or mutation

• Positive, negative, unknown or margin of error

• Predictive, carrier and prenatal testing

Establishing a diagnosis can be a ______________ process

• long

• short

• easy

• repeated

Genetic Hetrogeneity may be confounding factor of _____

• Establishing a diagnosis

• Family History

• Ethnic or Ancestry

• Expanded Carrier Testing

Hemophilia or CF may be confounding factor of _____

• Establishing a diagnosis

• Family History

• Ethnic or Ancestry

• Expanded Carrier Testing

Sickle cell or Tay Sachs may be confounding factor of _____

• Establishing a diagnosis

• Family History

• Ethnic or Ancestry

• Expanded Carrier Testing