Genetics And Society Flashcards
What does eugenics mean?
The study of how to arrange reproduction within a human population to increase the occurrence of heritable characteristics regarded as desirable
What is genetic counselling?
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of consequences of the disorder, the probability of developing or transmitting it and ways in which this may be prevented or ameliorated
What is the classical description of genetic counselling?
•Non-directive
•Non-judgemental
What is directive genetic counselling
•Family may not understand full consequences
•Family may expect to be directed
•Doctors know best
•Duty to reduce disease frequency
What is 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?
What is a screening test?
Process of identifying people with an increased chance of a condition
•Someone who is screen positive may not have the condition
What is a diagnostic test?
Confirms whether the condition is present or not
Screening for Down syndrome?
•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
Give examples of effects of screening
•In 2011, 74% of women in E&W opted for Down screening
•Proportion of women having a termination of pregnancy after a diagnostic test 89-95% 1989-2012
•Source Nuffield Council Bioethics NIPT report 2016
How do you 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?
What is NIPT?
Prenatal screening for serious congenital disorders by analysing traces of fetal DNA in a blood sample from the mother
What is a benefit of NIPT?
Reduces the risk of miscarriage from more invasive testing
How accurate is NIPT?
•If the risk is 1 in 150 AND high chance NIPT result 91% will have a confirmed diagnosis.
•Very good screening test reduce the number of invasive tests needed.
What are the NIPT ethical issues?
•CHOICE? AUTONOMY? CONSENT
–Free informed choice
•AVOIDANCE OF HARM
–Govt has a duty to eliminate or reduce harm from the intervention
•EQUALITY INCLUSION and FAIRNESS
–Policies address prejudice, bias and discrimination. Public money is spent fairly
What are the 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.
What are necessary factors for PGD regulated procedure?
•Human Fertilisationand Embryology Authority
•Licensed centre for IVF and PGD
•Risk of a serious condition
•License for the specific condition
•Risk of CONCEIVING a pregnancy with a serious condition greater than 10%
•Couple seen for genetic counselling
•Female partner under 40 years
•Non smokers
•NO living unaffected child
•HFEA licence exist
•NOT for primarily infertility problems
What are the issues with designer baby?
•First problem is that characteristics such as intelligence not single gene
•Parliament has regulated the procedure with a licensing system
•Couple want a baby without the genetic problem but do not want to conceive naturally and have a test in the pregnancy and have to consider TOP
Explain the process of altering the germline
•Somatic cells body cell
•Germ line cell lineage which results in eggs and sperm
•Alter the germline and it affects future generations
•Potential harm of altering the germ line unknown
•Consider Mitochondrial Replacement Therapy
