Genetic counselling- pop-week 1

Question 1

genetic counselling is concerned with what 5 things

Answer 1

1) risk
2) known + unknown
3) controllable and uncontrollable
4) thoughts + feelings
5) testing + decisions

Question 2

give 5 reasons for a clinical genetic referral

Answer 2

1) repeat miscarriages
2) strong family history of cancer
3) foetal loss or abnormality
4) Family history of genetic disorder or condition with genetic component
5) child or adult affected so investigation or diagnosis needed

Question 3

what 4 forms of testing are available

Answer 3

1) diagnostic
2) predictive
3) carrier
4) prenatal

Question 4

cystic fibrosis
1) mucus secretion is what than normal
2) CF affects which two organs mostly
3) it is a lifelong disease and can be what
4) how is it treated
5) it is a what disease

Answer 4

1) thicker + more viscous
2) lungs + digestion
3) fatal
4) with physiotherapy + oral enzyme replacement therapy and antibiotics
5) recessive

Question 5

give two reasons for testing in pregnancy

Answer 5

1) so can plan for management of affected baby
2) termination

Question 5

testing in pregnancy
1) at 7 weeks what is available for testing
2) at 11 weeks what sampling can be done if a gene change is known or if there is a known chromosomal abnormality
3) at 15 weeks what sampling can be done if a gene change is known or if there is a known chromosomal abnormality

Answer 5

1) free foetal DNA in maternal blood
2) chorionic villus sampling
3) amniocentesis

Question 5

huntingtons diease
1) name the 3 clinical features
2) what is the mean onset age range
3) what two forms of genetic testing are available
4) what treatment is available
5) what kind of disease is this

Answer 5

1) movement, cognitive, pyschiatric disorder
2) 35-55 years
3) diagnostic + pre symptomatic
4) symptomatic so no cure
5) dominant

Question 6

adult onset disorders
1. the gene change is present from when
2. when do the effects of the disease show
3. the age of onset is what
4. the manifestations can what

Answer 6

1. conception
2. in adulthood
3. variable
4. vary

Question 7

state two benefits of testing

Answer 7

1. if test negative then concern removed
2. clarity about gene status

Question 8

state 4 benefits of testing if the results are positive

Answer 8

1. can arrange available treatment
2. plan for future
3. decidebwhether to have kids or not
4. let any kids know

Question 9

state 5 disadvantages for a positive result from testing

Answer 9

1. chance of no treatment available
2. loss of hope
3. children at risk
4. impact on person, familu
5. issues with finances e.g mortgage and insurance

Question 10

state 2 disadvantages of a negative result from testing

Answer 10

1. initial feeling of guilt
2. unrealistic expectation of good result

Question 11

pharmacogenomics relates to what

Answer 11

how genetics predict response to medication