Huntington Disease Ethics - Elliot

Question 1

What is pre-symptomatic genetic testing?

Answer 1

• Test for variants causing or associated with diseases or disorders known to be inherited in the family, often with adult-onset symptoms.

Question 2

What is the purpose of pre-symptomatic genetic testing?

Answer 2

Accurate risk assessment

Question 3

What is the value of pre-symptomatic genetic testing?

Answer 3

Depends on effectiveness of prevention (if possible), management, and treatment.

***Must be tailored to individual preferences and family needs/experiences.

Question 4

What are the implications of pre-symptomatic genetic testing in HD?

Answer 4

• Decide
  
  • <5%, due to emotional/confidentiality risks
• Referred to HD site/lab
• Multi-disciplinary counseling
• Informed consent
• Test
• Multi-disciplinary counseling
  
  • whether +/-
• Counseling at least a month before test, and then over years in follow-up.

Question 5

What is the reality/consequences of pre-symptomatic genetic testing in HD?

Answer 5

• 40+ repeats in the Huntington gene confers a 100% chance of HD
• No cure
• No treatment to delay, slow, stop, or reverse the disease
• The choice to undergo predictive testing is a matter of personal choice with significant psycho-social implications
• Must have pre- and post-test counseling

Question 6

What are two testing options for pre-implantation or prenatal stages?

Answer 6

• IVF - when affected parent desires non-affected child
• Exclusion test - when parent does not want to know personally, but wants to assure/know if offspring at high risk for disease

Question 7

What are the general ethical issues in pre-implantation & prenatal testing for HD?

Answer 7

• Beneficence
  
  • knowledge is power
  • planning for life
• Non-maleficence
  
  • do no harm
  • emotional, psychological, family, social harm
  • privacy/confidentiality/access to results
• Autonomy
  
  • informed consent process
• Justice
  
  • Is it ethical to test for diseases in which there is no cure?
  • $1000 cost for test & counseling

Question 8

What are the ethical dimensions of genetic testing, especially in relation to the Human Genome Project?

Answer 8

• ELSI
  
  • Ethical
  • Legal
  • Social Implications
• Issues:
  
  • use of information
  • privacy and confidentiality
  • stigmatization
  • reproductive issues
  • clinical concerns
  • uncertainties of testing and therapies
  • commercialization
  • patenting
  • ETC.