Module 7: Intro to Clinical Genetics

Question 1

Importance of Taking a Complete Family History

(Genetics)

Answer 1

• make it relevant to the present illness
• ask about early-onset, preventable illness
• ask specifically about 1st degree relatives
• ask about inforative relatives
• record ethnic or ancestral backgrounds if relevant
• inquire about consanguinity
• keep it up to date

Question 2

Consaguinity

Answer 2

unions between people biological related as second cousins or closer

Question 3

Genetic Counseling

Answer 3

• provides information to people about genetic disorders that have occurred or the risk of them occuring within a family
• helps families to make informed reproductive decisions

Question 4

Indications for a referral to genetic counseling (2)

Answer 4

• someone who is seeking to get pregnant
• consanguinity
• known or suspected hereditary disease in a patient or family

Question 5

Ways in which Genetic Testing can be Carried Out

Answer 5

• amniocentesis
• pedigree analysis
• newborn screening (blood)

Question 6

Bayesian Analysis in Genetic Counseling

Answer 6

gives a prediction of the probability of illness based on the genetic makeup of person and their family

Question 7

Personalized Medicine and Genomics

Answer 7

• based on using an individual’s genetic profile to make the best therapeutic choice with the help of predictions about whether the person will benefit from a medicine or suffer strong side effects
• precision medicine and clinical genomics allow for more precise targeting of a diseases with new therapies
  
  • ex. cystic fibrosis and cancer