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Human and Medical Genetics > L23 Bioethics and Human Genetics > Flashcards

L23 Bioethics and Human Genetics Flashcards

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USMLE® Step 1 flashcards Biology 101 flashcards
1
Q

Bioethics and human genetics

A

The study of the rightness or wrongness of human conduct in the area of life sciences

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2
Q

A moral dilemma

A

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

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3
Q

MH HREC

A

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

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4
Q

Case 1 - a moral dilemma

A

see onenote slides

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5
Q

Prosenjit - arguments against

A

see onenote slides

breaching confidentiality

many more threats made than are carried out so many confine those who should not be

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6
Q

Judge ruled “for” the case

A

“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”

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7
Q

Bioethical issues in genetics

A

see onenote

pre-implantation testing
pre-natal testing
sex-testing
etc…

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8
Q

Bioethical issues in genetics -

The general issues

A

see onenote

  • what is normal?
  • access: resource issues
  • autonomy
  • informed consent
  • confidentiality/privacy
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9
Q

What is normal?

A

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
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10
Q

Preimplantation genetic diagnosis - issues

A

see onenote

who qualifies?
destruction of embryos?
sex determination
“saviour” children

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11
Q

Saviour children

A

see onenote

“medicine babies”

  • child created out of need
  • sick child feels obligation to their “saviour”
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12
Q

Positive outcomes of pre-implantation testing and saviour children

A

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
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13
Q

Other PGD issues

A

see onenote

  • test not 100% reliable
  • mosaicism
  • long term consequence on fetus not known
  • possibility that none of the embryos tested will be normal
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14
Q

Embryo editing

A

see onenote

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15
Q

Abortion/termination after prenatal diagnosis

A

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
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16
Q

Issues around termination

A

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?

17
Q

Issues associated with genetic screening and testing

A

Genetic screening = test offered regardless of family history

Genetic testing = testing of those known to be at risk

18
Q

Screening for genetic disorders

A

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
19
Q

Example of community screening test - Newborn screening (NBS)

A

see onenote slides

every newborn baby in Victoria is tested for 3 conditions:

  1. PKU
  2. cystic fibrosis
  3. 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

  1. consent to do the screening
  2. can the sample be used for research
20
Q

PKU

A
  • 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

21
Q

Cystic Fibrosis (CF)

A

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?
22
Q

Issues with storing guthrie cards

A

see onenote

  • ownership - currently not clear
  • how long will they be retained?
  • secondary uses
  • release to family
23
Q

When should genetic testing be offered?

A

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
24
Q

Childhood testing

A

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

25
Q

Direct to consumer issues

A

see onenote

accuracy and appropriateness

26
Q

Direct to consumer issues

- Impact on self and others

A

see onenote

  • lack of follow up support
  • impacts family as a whole
27
Q

Presymptomatic testing for genetic disorders

A

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
28
Q

Predictive testing

A

risk of developing a late onset disease e.g. diabetes type 2

29
Q

Huntington’s disease

A

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
30
Q

Presymptomatic uptake rate

A
  • expected over half would access testing but actual uptake rate much lower
  • victoria, approx 22% uptake rate
31
Q

Alzheimer predictive testing study

A

see onenote

875 participants

Human and Medical Genetics (32 decks)

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