L23 Bioethics and Human Genetics Flashcards
Bioethics and human genetics
The study of the rightness or wrongness of human conduct in the area of life sciences
A moral dilemma
see onenote
EXAM - write about one of the genetic testing and what are the for and against arguments
morally ought to do X and morally ought to do Y but precluded by circumstances from doing both
MH HREC
see onenote
Melbourne Health Human Research Ethics Committee
constituted in conformity with the National Statement and will have at least 8 members both men and women
Case 1 - a moral dilemma
see onenote slides
Prosenjit - arguments against
see onenote slides
breaching confidentiality
many more threats made than are carried out so many confine those who should not be
Judge ruled “for” the case
“owes a legal duty not only to his patient but also to the patient’s would be victim”
“protective privilege ends where the public peril begins”
Bioethical issues in genetics
see onenote
pre-implantation testing
pre-natal testing
sex-testing
etc…
Bioethical issues in genetics -
The general issues
see onenote
- what is normal?
- access: resource issues
- autonomy
- informed consent
- confidentiality/privacy
What is normal?
What is normal?
- Deaf parents, not concerned about having deaf children as there is a well established deaf community and they too communicate using sign language
- Achondroplasia parents may want a child with achondroplasia and would terminate a “tall” child and as they want the child to be a part of the achondroplasia community
Preimplantation genetic diagnosis - issues
see onenote
who qualifies?
destruction of embryos?
sex determination
“saviour” children
Saviour children
see onenote
“medicine babies”
- child created out of need
- sick child feels obligation to their “saviour”
Positive outcomes of pre-implantation testing and saviour children
see onenote
- couple doesn’t need to undergo pregnancy termination
- less invasive for mother
- child who was unwell may be cured
- improve dynamics of the group => family focus will be taken away from sick child
Other PGD issues
see onenote
- test not 100% reliable
- mosaicism
- long term consequence on fetus not known
- possibility that none of the embryos tested will be normal
Embryo editing
see onenote
Abortion/termination after prenatal diagnosis
see onenote
when does life begin?
- right to life of fetus
- killing is wrong
- undervalues those living with a disability
- wrongful life
- autonomy of parents
- right of other children
- life of pain or suffering avoided
Issues around termination
see onenote
is there a difference between:
- discarding embryo
- termination after CVS
- termination after amniocentesis
should a couple be refused testing if they aren’t going to terminate a pregnancy with a severely affected fetus?
Issues associated with genetic screening and testing
Genetic screening = test offered regardless of family history
Genetic testing = testing of those known to be at risk
Screening for genetic disorders
see onenote
- can be done on an individual or community basis
- for a disorder to be selected for community screening certain guidelines must be met
Example of community screening test - Newborn screening (NBS)
see onenote slides
every newborn baby in Victoria is tested for 3 conditions:
- PKU
- cystic fibrosis
- congenital hypothyroidism
parents must give written their consent
- informed consent processes in NBS programs provided minimal information about use, access and storage - raising questions about legality of any uses of the blood specimens beyond the narrow screening process
two tiered permission
- consent to do the screening
- can the sample be used for research
PKU
- treatable
- cost effective
- is prenatal testing necessary?
- storage of Guthrie cards
If it’s so treatable, why are we screening for it?
Should we not allow pre-natal testing for PKU?
- Child after treatment has a perfectly normal life
Cystic Fibrosis (CF)
see onenote
- early intervention important for treatment
- cases of CF missed
- IRT may be elevated for other reasons - grey area (anxiety)
- no cure
- who should have the information?
- carrier testing?
Issues with storing guthrie cards
see onenote
- ownership - currently not clear
- how long will they be retained?
- secondary uses
- release to family
When should genetic testing be offered?
see onenote
- in the context of genetic counselling
- based on informed choice
- performed for benefit of person being tested
- only undertaken if the person tested has autonomy
Childhood testing
see onenote slides
- paternity testing
- late onset disease - should children be tested?
condition where there is potential medical benefit in the immediate future
- presymptomatic and predictive testing should be offered
condition where there is no potential medical benefit in the immediate future
- presymptomatic and predictive testing should not be offered for people under the age of 18
Direct to consumer issues
see onenote
accuracy and appropriateness
Direct to consumer issues
- Impact on self and others
see onenote
- lack of follow up support
- impacts family as a whole
Presymptomatic testing for genetic disorders
see onenote
- for individuals at risk of developing a genetic disorder known to be in the family
e. g. DNA test for triplet repeat expansion in Huntington disease
Predictive testing
risk of developing a late onset disease e.g. diabetes type 2
Huntington’s disease
see onenote slides
- autosomal dominant triplet repeat disorder
- progressive neurodegenerative disorder
- no treatment known to alter natural history
- inevitably fatal
- onset to death averages about 15 years
- mean onset is 40 years old
Presymptomatic uptake rate
- expected over half would access testing but actual uptake rate much lower
- victoria, approx 22% uptake rate
Alzheimer predictive testing study
see onenote
875 participants
