Principles of genetic counselling Flashcards
features of genetic counselling
- help patient and family understand and adapt to implications of genetic contributions to disease
- consult service
- education
- counsel to allow their informed choice
- provide info to healthcare providers to help them
ethical and legal framework
- non-directive
- respect autonomy
- respect provacy
- avoid discrimination based on genes
- policies to protect children and vulnerable pops
reasons for referral (3)
- family Hx
- clincial manifestations of possible disorder
- pregnancy risk
what happens in 1st session (5)
- fam. Hx
- obtain documentaitons - pt and fam.
- formulate understanding of the prob
- discuss available tests
- arrange for collection if indicated
what happens in 2nd session (6)
- review results - understanding and implications
- provide guidance for future care
- explain inheritance
- explain risk for children or other fam.
- review testing options for fam. if applicable
- provide support
what is important factor for prenancy risk
maternal age
what are SOGC guideline for screening
offer optional screening before diagnostic testing
what does nuchal translucency indicate risk of (5)
over 3mm
- chromo abnormal
- major structural cardiac defects
- other structural def.
- specific genetic dis.
- preg. loss
what is screen for DS and trisomy 18
NT, age related chance, biochem
what is screen for open neural tube defect
ultrasound
what is diff, between screen and diagnostic test
screen - incr. risk
diagnostic test -finding the problem
3 types of diagnostic tests
- CVS
- amniocentesis
- US or EKG
what is risk in chinese people
risk of a or B thalassemia
what is risk in northern europeans
cystic fibrosis
what is risk in ashkenazi jews
high carrier rate of reccesive disorders
