Genetic Testing
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Why?
For what?
When?
How?
Why?
• To ease pain and suffering
• To save lives
• Decisions made after results-when you
test
Traits <>Genes
• What are traits?
• What are positive traits-things you’d like to
see in potential offspring
• What are negative traits-things you’d like
NOT to see in potential offspring
When test? What do if negative result?
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Carriers-mom and dad
Preimplantation stage embryo
Embryo/fetus
Newborn
Embryo
Birth
How? Tests
• Non-invasive
– Ultrasound
– blood
• Invasive
– Amnioscentisis
– Chorionic villus sampling
– Preimplantation Genetic Diagnosis (PGD)
Preimplantation genetic diagnosis: PGD
Requires in vitro/assisted reproductive technology
What to measure in sample?
• Chromosomes
• Protein/enzyme levels
• DNA-sequence
Once you have tested embryos
• Determine which carry mutation-discard
• Use only the ones that are wild type
Photo by Michael Mazolla
After ‘Apple’
• Empathy exercise
• Spectrum
– Would you test to find out sex of child
– Would you use information to choose the
sex of a child
– Would you test for a genetic disease that
runs in your family-what would influence
this decision
Why test/why not test?
• To ease pain and suffering
• To save lives
Not so clear/who decides what to test for?
What action to take?
Argument against prenatal testing from the disabled community:
Suggests the lives of the disabled are not worth living
Should we test? For what?
Countering such arguments:
1. Prenatal screening expresses a hurtful message to those who live
with disabilities.
The reasons that people do prenatal testing and screening vary.
No message is being sent. There are lots of things that people do for
their own reasons that some may disagree with or find problematic, but
these decisions and actions are not about them or sending messages to
them.
2. If screening leads to a decision not to bring the disabled child into existence, then
the message is that a person who has a disability is unworthy of being born.
But this confuses an already existing person with something that doesn’t exist.
Embryo
Egg Zygote-implantation
Fetus
Viability
Birth
Subject-of-a-life Person