25 & 26 - Ethical Genetics

Question 1

Clinical geneticists

Answer 1

Overarching diagnosis for children with developmental delay / intellectual impairment, congenital abnormalities, growth disturbance and dysmorphic features

Question 2

Ethical principles of genetic testing

Answer 2

• Autonomy
• Justice
• Beneficence
• Non maleficence
  (AJBNM)

Question 3

Autonomy

Answer 3

• Patient’s right to make a health care decision
• Must understand all risks and benefits (informed consent)

Question 4

Justice

Answer 4

• Equal access of treatment / testing to all people
• Testing will not lead to discrimination of an individual
• Confidentiality

Question 5

Beneficence

Answer 5

Intent of doing good for the patient

Question 6

Non maleficence

Answer 6

Intent of causing no harm to patient

Question 7

Genetic testing

Answer 7

• Diagnostic genetic testing
• Predictive / pre-symptomatic testing
• Carrier testing
• Screening for genetic disorders

Question 8

Outcomes of positive results

Answer 8

• Management decisions
• Reproductive options
• Predictive testing for relatives

Question 9

Outcomes of inconclusive result

Answer 9

Unable to offer predictive testing

Question 10

Variant of uncertain significance

Answer 10

Unable to offer predictive testing

Question 11

Predictive genetic testing

Answer 11

• Testing for a known mutation in family
• Definitive (neg or pos)
• Informed consent required

Question 12

Testing in children

Answer 12

• Consider rights of child (a)
• Weigh up benefits and harms (B vs NM)
• Gudinhg principles

Question 13

When is unconsented use allowed

Answer 13

Where it is reasonably necessary to lessen or prevent a serious risk to
the life, health or safety of any individual

Question 14

Options for at risk couples

Answer 14

• Prenatal testing + termination of pregnancy
• Pre-implantation Genetic Diagnosis (PGD)
• Utilise Sperm or egg donor
• Adoption

Question 15

Pre implantation genetic diagnosis

Answer 15

• Selection against an at risk single gene or chromosome
• Screening for aneuploidy

Question 16

Genetic tech revolution

Answer 16

• 1990 (HGP, 13 years, $2.7 billin, thousands of scientists)
• 2013 (<1 week, <$1000, 1 scientist)

Question 17

Whole exome sequencing

Answer 17

• Protein encoding regions of the
  genome = exome
• Most disease mutations are in coding (exons) or adjacent (splice sites)

Question 18

Panel

Answer 18

• Cheaper, less analytical time, less data to store
• Higher throughput
• Better coverage of exons, better read depth
• Incidental findings avoided

Question 19

WES

Answer 19

• Filter for genes of interest
• More expensive, more analytical time, more data to store
• Potential for incidental findings
• Able to go back and interrogate “new” genes

Question 20

Issues with whole genome sequencing

Answer 20

• Incidental findings
• Beneficence vs non-maleficence?
• Medicalization of the genome
• Genetic discrimination
• Rights of the individual (autonomy) vs benefits of the community?
• Are doctors being paternalistic here?

Question 21

On average how many loss of function variants does each person carry

Answer 21

250-300

Question 22

% of false positives

Answer 22

27%