Case studies: personal genetic profiling and body imaging

1
Case studies personal genetic profiling and body
imaging

• Professor Nikolas Rose
• Martin White Professor of Sociology
• BIOS Centre for the Study of Biomedicine and
  Society
• London School of Economics and Political Science

2
Direct-to-consumer personal genetic profiling
Companies were not willing to tell us how many
people are using their services - likely to be few
3
Pros

• Results may be of interest
• Increase peoples individual sense of knowledge
  about and control over their own destiny
• Perhaps a sense of responsibility for own health
• Could provide reassurance or enable people to
  take preventative action
• Website testimonials suggest that tests do have
  medical or health related implications
• Though companies are careful to argue that no
  medical decisions should be made on basis of
  their tests

4
Cons (1)

• Reliability Risk assessments vary between
  providers
• Validity Even if assessments are reliable, they
  have little or no clinical relevance
• scientific evidence for most associations
  between genetic variants and disease risk is
  insufficient to support useful applications1
• Results difficult to interpret
• Cant take account of factors other than genetic
• People tend to overestimate certainty and
  underestimate uncertainty

1 Janssens, Gwinn and Bradley et al. (2008) A
critical appraisal of the scientific basis of
commercial genomic profiles used to assess health
risks and personalize health interventions.
American Journal of Human Genetics 82(3) 5939.
5
Cons (2)

• Good results may lead to complacency
• Often little preventive action available apart
  from sensible lifestyle choices
• No evidence of psychological harms yet
• Potential misuse of personal genetic information
  or commercialisation of data
• People may seek unnecessary further tests or
  advice from their doctor
• May increase belief in individual
  responsibility for a future that cannot fully
  be known or managed
• We conclude insufficient evidence for accuracy
  and reliability of indication of future disease
  risk

6
Examples of recommendations

• Regulators should request evidence for clinical
  claims made by companies
• Government websites should provide info on the
  risks and benefits of genetic profiling
• Companies should not knowingly analyse the DNA of
  children unless certain criteria are met
• Doctors should receive training on advising
  patients
• Companies should voluntarily provide clear
  information on the limitations of genetic
  profiling and what will happen to peoples data

7
Direct-to-consumer body imaging
Could not find out how many people are using
these services likely to be few at the moment
8
Pros

• Can put peoples minds at rest
• Might pick up pre-symptomatic indications leading
  to further important treatment interventions
• May motivate change of lifestyle
• May increase an individuals interest in, and
  sense of responsibility for and control of, their
  own health

9
Cons

• CT scans expose people to harmful radiation
• MRI scans can show harmless abnormalities
• Reports provided can be difficult to interpret
• Terms undefined
• Some advise to contact GP without further advice
• Some advise annual CT scan without ref. to harms
• Some report risk of health problems without
  advice about how to lessen risk beyond healthier
  lifestyle
• Qualifications of those analysing the images not
  known
• Implications for insurability etc

10
Examples of recommendations

• Companies that sell body imaging as a health
  check should be regulated
• Direct-to-consumer whole body CT imaging should
  be banned
• Government websites should provide information
  about the risks and benefits
• Companies should voluntarily provide information
  on the limitations
• Doctors should receive training on giving advice
  to patients on body imaging