Thanks to the joys of Twitter I have come across an interesting article in ScienceInsider (a news magazine and part of the online presence of the journal Science). Keeping it in the family describes Manuel Corpas’ (a bioinformatician at the Genome Analysis Centre in Norfolk, U.K) journey to obtain genomic information about himself (including crowd sourcing the funding). In addition he “asked his mother, father, sister, and maternal aunt whether they would submit DNA to 23andMe and get 1 million genetic markers, known as SNPs, sequenced, and have their information made public.” They all agreed. [Blimey thought I, but good on them! In my personal opinion I was pleased to see that he and his wife have chosen not to obtain the information on their 3 children].
What was interesting for me was that although he is an expert within the genomics field and is obviously knowledgeable about the methodology and the data that is generated he hadn’t fully understood the potential emotional consequences of managing the information for his family. In addition, “Although he says he explained the genetic tests to his family as well as he could, he didn’t have any training or knowledge of how to communicate the complexity of what genomic testing can and can’t reveal.”
Being an expert (in what ever field) and also being able to recognise the limitations of your expertise (before you do harm) is so important. Consent and quality communication in genetics/genomics is crucial as the information is not solely yours – much of it will be shared with family members. As part of our recent evaluation of the BHF Cardiac Genetic Nurse initiative (Report to be published soon) it was great to see specialist cardiac nurses who were not experts in inherited conditions (but experts in discussing complex issues, breaking bad news etc) being given the appropriate training that allowed them to develop the skills to support individuals and families in the complex decisions around testing and sharing genetic information.