Ethical & Societal implications of genomics

Question 1

Describe the 4 principles of medical ethics

Answer 1

• Respect for autonomy - Enabling individuals to make their own reasoned informed choice
• Beneficence - Acting in the best interest for the patient
• Non-maleficence - Avoiding unnecessary harm to the patient
• Justice - Acting in fairness, equal care for all

Question 2

What is the research pilot Genomics England are looking to set up?

Answer 2

• To offer genome sequencing at birth, reporting on actionable gene variants
• Parents will also have the option for their child’s data to be included in the National Genomic Research Library (biobank, and/ dob removed but linked to health data)
• Potential to store their genome on file for life so available for any future testing

Question 3

What are the ethical circumstances in relation to the 4 pillars of medical ethics that should be considered when looking at Genomics England’s plan?

Answer 3

• Autonomy:
  
  • Infants can’t give informed consent
  • Can informed consent be given if future use of data is unknown
• Beneficence:
  
  • How do we know this is in the future best interest for the infant and family?
  • Will the child be able to access early interventions to manage their risk?
• Non-maleficence:
  
  • Insurance - Will insurance become unaffordable for those with a genetic predisposition? Is it fair for a genetic predisposition to not be disclosed and other customers paying higher premiums overall to cover the care costs?
  • Genetic discrimination - Who can access the information? Insurance companies, family, employers, banks, relationships.
  • Do health professionals have to disclose this information to other family members?
• Justice:
  
  • 2 tier health care system - Will there be equal access for patients (urban vs rural hospitals)?
  • Will information be provided in an EDI friendly way?
  • Genomic data may be accessible to pharmaceutical companies who develop new medication, w/o compensation to the paitent and then charge the patient for the new treatment
  • Can we deliver this programme AND provide effective care for patients who are already known to have a genetic condition. Limited resources. What will this programme cost to the NHS/society?
  • Reduce ‘’diagnostic odyssey’ for future children and their families

Question 4

Explain with reference to the 4 pillars, the counselling and ethical issues to consider when undertaking prenatal testing

Answer 4

Prenatal testing may uncover disorders such as T21, T18 or T13, and upon discovery of any of these, parents may wish to terminate their pregnancy

• Autonomy:
  
  • What if the parents differ on views?
  • Are they aware of the variable expressivity of the variant?
• Beneficence:
  
  • Have the parents made a decision that is the ‘best fit’ for them?
• Non-maleficence:
  
  • Will they be able to cope with the psychological impact of their decision?
  • Does this decision fit with the values of their family/friends? Will they be able to speak to them about their decision?
• Justice:
  
  • What does the option of termination say about disability in society?
  • Who decides that termination of pregnancy is acceptable in this situation?

Question 5

Explain with reference to the 4 pillars, the counselling and ethical issues to consider when undertaking predictive genetic testing

Answer 5

Predictive genetic testing may involve testing for BRCA variants etc.,

• Autonomy:
  
  • Patient can make an informed decision that will directly affect the care they receive
  • Situational coercion - Is family or other factor influencing decision?
• Beneficence:
  
  • Patient is of an age that they can receive screening/surgery to reduce cancer risk if has inherited familial variant (e.g. BRCA)
  • If they know they don’t have the variant, they may feel relieved
• Non-maleficence:
  
  • Proceeding or not with testing could harm patient or family
  • Patients may not be able to manage inceased cancer risk if not aware of the risk, resulting in a cancer diagnosis (this could involve making lifestyle changes, more regular screenings etc)
  • Patient may feel burden of responsibility to share result with family, which could cause emotional harm
• Justice:
  
  • Patient may be able to access predictive genetic testing, but siblings may not be able to
  • If there’s a good chance parents didn’t inherit variant (e.g. 50%), children would be having unnecessary test, diverting funds away from other patients

Question 6

Explain with reference to the 4 pillars, the counselling and ethical issues to consider when undertaking paediatric genetic testing

Answer 6

Paediatric genetic testing can be done to see if there’s pathogenic variants in children where parents have been carriers, but this is done after they’re born (e.g. MYBPC3 variant, hypertrophic cardiomyopathy, can cause arrhythmias and increase risk of sudden cardiac death, clinical cardiac screening generally begins in adolescence)

• Autonomy:
  
  • Are children Gillick competent? Do we defer testing until they can give consent?
  • Are the parents taking away their children’s future autonomy by consenting for them now?
• Beneficence:
  
  • Is there a benefit to knowing their result now, before screening commences?
  • It may give time for the parents to introduce th econdition and prepare the child(ren) for screening
• Non-maleficence:
  
  • Differening results b/w the 2 children may result in them being parented differently
  • Effect of parental guilt by parent who passed on variant
  • Could testing harm relationship b/w parents and children?
  • Can genetic testing lead to furture genetic discrimination
• Justice:
  
  • Would we offer this test to all families with children of this age?
  • Resource diversion of a test before it’s required, genetic testing may be cheaper when the test is more relevant for them

Question 7

Explain with reference to the 4 pillars, the counselling and ethical issues to consider when undertaking exclusion testing

Answer 7

• Exclustion testing - Invasive test in pregnancy (0.5% miscarriage risk) to determine if grandparental allele has been inherited. Allele has 50% chance of carrying the expanded gene. (This test can be done to detect alleles for diseases such as Huntington’s)
  • Autonomy:
    
    • Parent’s autonomy to not know if allele inherited preserved
  • Beneficience:
    
    • Parent does not receive genetic information they don’t want
    • Allele not passed on to offspring (presuming both parents want this)
  • Non-maleficence:
    
    • Emotional impact - testing process and termination of pregnancy
    • Future testing may reveal that the father is not a carrier of allele, and an unaffected pregnancy was terminated
  • Justice:
    
    • Not all services may support exclusion testing, would this test also be available to wider family?
    • Is it acceptable to terminate a pregnancy without HD/allele?

Question 8

Summarise the counselling issues involved with genetic testing

Answer 8

• Confidentiality and non-disclosure
• Coercion
• Increase in options may limit parents autonomy
• Difference of of opinion b/w couples about prenatal testing
• Termination of pregnancy - when you already have a child/family member with the condition
• Identical twins - 1 wants testing, other doesn’t
• Non-paternity - (approximately 1% in UK)
• Testing in childhood
  
  • Child’s autonomy, timing, labelling, parental anxiety, non-disclosure
• Manage expectations
  
  • Uncertainity - Variants of unknown significance (VUS) result in further uncertainty for patients and their families
  • More genes you look at (single gene, gene panel, exome, genome), more likely you’ll get a VUS or additional finding

Question 9

What should you do if you have concerns that a situation is ethical?

Answer 9

• Talk to colleagues
• Document discussions
• If needed, contact the ethics committee