W6 lec 1: introduction to medical genetics

Question 1

what is medical genetics?

Answer 1

a branch of medicine that involves the diagnosis and treatment of hereditary conditions

Question 2

whhat are the area of medical genetics?

Answer 2

• gene therapy
• personalised medicine
  -predictive medicine

Question 3

what is the difference between medical geneticist and genetic counsellor?

Answer 3

• doctors who train and specialize in diagnosing and treating genetic disorders/ conditions
• medical scientist with a masters degree in genetic counseling, offer support to individual and families by helping them understand their disorders both medically and psychologically.

Question 4

what are the components of a typical genetic consultation?

Answer 4

• history and family pedigree
• clinical examination
• special investigation
• genetic counseling
• pyscosocial support

Question 5

explain the components/ steps of the pedigree?

Answer 5

-Record medical and biological data about a family with respect to the inheritance of a genetic condition.
* Establish a pattern of inheritance for the condition.
* Calculate risks associated with the occurrence and recurrence of the condition as
well as identify family members who may be at risk of the condition.
* Determine genetic testing strategies as well as reproductive options related to the
condition.
* Develop patient rapport.
* Explore the patient’s understanding of their genetic health history and educate
about genetic conditions as well as the inheritance pattern

Question 6

what are the special investigations?

Answer 6

Often includes “standard” special investigations – should be directed
at the phenotype
* Blood tests
* X-Rays
* MRI/CT scans