Intended for healthcare professionals

Feature Christmas 2017

The Christmas gift of genetic uncertainty

BMJ 2017; 359 doi: https://doi.org/10.1136/bmj.j5762 (Published 22 December 2017) Cite this as: BMJ 2017;359:j5762
  1. Christopher Semsarian, professor123,
  2. Ray Moynihan, senior research fellow45
  1. 1Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, NSW 2042, Australia
  2. 2Central Clinical School, Sydney Medical School, University of Sydney, Australia
  3. 3Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia
  4. 4Centre for Research in Evidence Based Practice, Bond University, Queensland, Australia
  5. 5Sydney Medical School—Public Health, University of Sydney, Sydney, Australia
  1. Correspondence to: C Semsarian c.semsarian{at}centenary.org.au

John is a 32 year old father of two who had been troubled by excess earwax since childhood. Turning to “Dr Google” he thought that his type of earwax might be the result of a genetic change (single nucleotide polymorphism; SNP) in the ABCC11 gene, which can lead to either “dry earwax” or “wet earwax.” Having annoyed his family for many years, John’s father gave him a direct to consumer, ancestry based genetic test kit as a Christmas gift a couple of years ago; for fairness, he gave the same gift to his adult daughter, Rebecca.

Although this genetic gift was focused on providing information specifically about family and ethnic origins, John discovered that this genetic information—comprising thousands of SNPs across the genome—could also be uploaded to a free website to identify the genetic risk of many …

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