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Limited impact of personal genomic testing

Analysis of a study published in a science journal   |   By Dr Philippa Brice   |   Published 24 January 2011
Study: Effect of Direct-to-Consumer Genomewide Profiling to Assess Disease Risk
By: Bloss C.S.,Schork N.J.,Topol E.J.
In: New England Journal of Medicine
What this study set out to do:

To examine the psychological, behavioural and clinical impact of a commercial genome profiling test, the Navigenics Health Compass.

How they went about it:

Staff from health and technology companies were offered the testing at reduced cost in exchange for completing health assessment surveys before and several weeks after testing. These examined changes in symptoms of anxiety, consumption of fat, and exercise levels, as well as asking whether people had experienced distress or decided to undergo further health screening or testing as a result of the genome profiling results.


Just over 2000 people completed the study. No significant differences were observed in anxiety, fat intake or exercise behaviour; less than 10% reported any distress from test results, and less than 4% any clinically significant distress. 10.4% discussed the test results with a Navigenics genetic counsellor, and 26.5% with their own doctor. Around half of participants said they would undergo one or more additional forms of medical testing more often in the future. 


In general, genome-wide risk profiling did not cause significant harm or benefit to the sample of users surveyed over a short period – they didn’t feel distressed or rush to have lots of additional medical testing, nor did they make major changes to their diet or exercise habits. The effects on the wider population remain unknown. 

Our view:

The study has several limitations noted by the authors, mostly to do with the sample of people testing being non-representative of the wider population, and the fact that almost half of those who were tested failed to report afterwards. However, based on the available findings alone, it does seem as though genomic risk profiling may be neither as beneficial, nor as harmful, as is often made out. A relatively high proportion told their doctors about the test results, underlining the importance of health professionals having a basic awareness of the potential meaning and limitations of such findings. 

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