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 people’s 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 applications”1 • Results difficult to interpret • Can’t 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): 593–9.

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 people’s 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 people’s minds at rest • Might pick up pre-symptomatic indications leading to further important treatment interventions • May motivate change of lifestyle • May increase an individual’s 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