Ethical challenges arising from
clinical use of next-gen
sequencing and array
genomic scanning
David Amor
18th June 2011
Victorian Clinical Genetics Services
Victorian Clinical Genetics Services
MiGenome
8 June 2011
• The “MiGenome” iPad application puts genomic
information at the individual’s fingertips, allowing an
individual to visualize their genome and interrogate it for
mendelian disorders, disease risk and
pharmacogenomic drug response.
• “By making sequencing more affordable and developing
tools like MiGenome, we believe that we can significantly
accelerate the adoption of individual genome sequencing
which will, in turn, pave the way to a future where an
individual’s genome sequence informs and personalizes
his healthcare.” (Jay Flatley)
Victorian Clinical Genetics Services
Full genome sequencing challenges
established ethical norms
• Informed consent, especially for predictive testing
– Impossible to counsel patients about the full range of possible
results
– Significant departure from traditional standards of care
• Genetic testing of asymptomatic minors
• Disclosure (or non-disclosure) of results
– Testing will generate more data than can be
presented/interpreted by an individual clinician
– Is withholding information (selective disclosure) ethically justified,
and who decides
Victorian Clinical Genetics Services
Full genome sequencing also
introduces potential harms
• Psychological impacts
• Genetic discrimination
– Genetics of intelligence
• Use of resources
– Test is cheap but interpretation expensive
• Unnecessary termination of pregnancy
Victorian Clinical Genetics Services