Genetics and society 17.10.22 Flashcards

1
Q

What are eugenics?

A

Eugenics is the practice or advocacy of improving the human species by selectively mating people with specific desirable hereditary traits. It aims to reduce human suffering by “breeding out” disease, disabilities and so-called undesirable characteristics from the human population

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2
Q

What are positive eugenics?

A

Positive eugenics had the goal of improving the human race by encouraging those with desirable traits to breed

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3
Q

What are negative eugenics?

A

Negative eugenics focused on reducing degenerate offspring by preventing those that had undesirable traits from breeding

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4
Q

Give an example of Eugenics

A

Sterilisation of Germany. They sterilised people who did not have favourable traits

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5
Q

What is genetic counselling

A

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

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6
Q

What is directive genetic counselling?

A

In the past…
- Family may not understand full consequences
- Family may expect to be directed
- Doctors know best
- Duty to reduce disease frequency
This is wrong and does not occur now

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7
Q

What is non-directive genetic counselling?

A

Better way at looking at it
- 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? Yes, just think carefully about the way you present information. Can’t say have testing to make sure you don’t breed.
Helps the individual in the clinical setting

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8
Q

What is a screening test?

A
  • Identifying people with an increased chance of a condition.
  • Someone who is screen positive may not have the condition
  • Might just tell you that you have a 1/100 chance of having the condition.
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9
Q

What is a diagnostic test?

A

Confirms whether the condition is present or not.

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10
Q

How can you screen for Down Syndrome?

A
  • Can have a screening test. Will show if your 50 = 1/6 chance and if you are 20 = 1/1530
  • If you are older than 35 can have a screen and then maybe a diagnostic test.
    -Then can have a discussion about wether they want further test.
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11
Q

What is an invasive test? give 2 examples

A
  • Used to Diagnose
  • Have a 1% chance of miscarriage
  • One way of doing the test is: amniocentesis (taking a sample of amniotic fluid around the baby) or Chorionic villus sampling (CVS), which is taking a sample of the placenta.
  • under local anaesthetic and uncomfortable
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12
Q

Give some statistics about the effect of screening

A
  • In 2011, 74% women opted to screen for Down screening
  • In 2012 95% pregnancies terminated after a positive diagnosis
  • These tests and decisions are becoming more common
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13
Q

What is NIPT?

A
  • Non-invasive pre-natal testing
  • Sample of maternal blood
  • Look for excess genetic material from Chromosome 21
  • More cost effective
  • The fact it is so easy to use, it may become more routine
  • Is that necessarily a good thing
  • Highly effective with e.g. Down’s syndrome
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14
Q

What are the ethical issues with NIPT?

A
  • They need to have a free informed choice
  • We need to avoid harm, so this NIPT does avoid invasive tests which cause harm
  • Equality inclusion and fairness: policies address prejudice, bias and discrimination
  • Justice: not widely accessible and is the public money being spent fairly.
  • Could have failed result and be misleading, is that causing more harm than good
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15
Q

What are some concerns about eugenics?

A
  • subtle pressure from society
  • Routinisation of testing e.g. not fully informed consent
  • Society valuing disabled children/ adults
  • Isolation of families
  • Disapproval by society of continuing a pregnancy after screening
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16
Q

What is a PGD?

A
  • Pre-implantation Genetic Diagnosis
  • Used with IVF to reduce the risk of passing on an inherited condition.
  • In the UK mainly used for screening for Down syndrome
17
Q

What are the issues with PGD?

A
  • The designer baby
  • Intelligence however, is not just a single gene
  • Parliament has regulated the procedure with a licensing system
  • Look at the ethics of it:
    Autonomy and consent (other reproductive options explained)
    Avoid harm and risk of harm
18
Q

What does altering the germ-line mean?

A
  • This means altering the gametes which would completely affect future generations
  • The potential harm of altering the germ-line is unknown at the moment
19
Q

What is Mitochondrial Replacement therapy?

A

(prevent the transmission of mitochondrial disease to future generations). Take nucleus out of egg and implant in cytoplasm of another ladies cytoplasm, then fertilise with sperm.

20
Q

What are the ethical issues with altering the germ-line?

A
  • Regulated by HFEA
  • Person born following gene modification does not consent and the modification is transmitted to offspring to offspring
21
Q

What are the pros and cons of gene editing?

A

PRO:
- increase in reproductive autonomy
- Therapy not selection
- Prevent a genetic condition in future generations
AGAINST:
- altering the germ-line is not a line that should be crossed
- genotype does not completely make a persons’ phenotype
- safety feasibility
- off-target effects