Genetics And Society Flashcards
Define genetic counselling
Genetic counselling is the process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder, the probability of developing or transmitting it and of the ways in which this may be prevented or ameliorated”
Classic description of genetic counselling
Non-directive
Non-judgemental
Detective genetic counselling
Family may not understand full consequences
Family may expect to be directed
Doctors know best
Duty to reduce disease frequency
Non-directive genetic counselling
Family may have extensive personal experience
Decisions on reproduction must be personal
Directive advice may be counterproductive
Aim of counselling is primarily to help the individual
Can we truly be non-directive?
Screening test
Process of identifying people with an increased chance of a condition
Someone who is screen positive may not have the condition
Diagnostic test
confirms whether the condition is present or not
Screening for down synrome
Maternal Age ≥35 or ≥37
Mat age plus serum screening risk of 1 in 150 risk or higher
Mat age serum screening and nuchal thickness 1 in 150 risk or higher
How do measure the out come of genetic counselling?
Measure number of pre-natal tests done?
Measure number of pre-natal tests not done?
Measure how much people remember?
Reduction in the prevalence of certain diseases?
The broad views of the embryo status:
Embryo has full moral status at conception
Partial or limited moral status acquire moral status as pregnancy progresses (24 weeks)
No Moral status
What is NIPT?
Noninvasive prenatal testing is a method used to determine the risk for the fetus being born with certain chromosomal abnormalities, such as trisomy 21, trisomy 18 and trisomy 13.
This testing analyzes small DNA fragments that circulate in the blood of a pregnant woman
how can very good screening tests be beneficial?
they reduce the number of invasive tests needed
Autonomy Choice consent in NIPT
Improves choice Earlier choice Informed choice
Less invasive more pressure to have blood test
Routine
Accurate information about the disabled person
Avoiding harm in NIPT
Harm to pregnant woman
More accurate screen less invasive test fewer late
TOP
Mis-leading information
Lack of counselling support –> Psychological distress
Failed result
Avoiding harm fetus in NIPT
Fewer invasive tests fewer miscarriages
Fewer later TOP
Increase the number of TOP
Concerns about Eugenics
Subtle pressure
Routinisation of testing ie not fully informed consent
Society valuing disabled children adults.
Isolation of families
Disapproval by society of continuing a pregnancy after screening.
