A Family Experience of Personal Genomics
This article presents a personal journey of a close-knit family from Málaga, Spain who engaged with direct-to-consumer (DTC) genomic testing. Whilst the testing was initiated by one member of the family who works as a genome bioinformatician, none of the remaining family had any prior experience with DTC genetic testing. A thoughtful account, written in the first person, is offered on the experience of genome testing across the various members of the family together with a reflection on how it felt to be a custodian of the ‘family genome’. The way the family processed their genome information is explored and the difficulties and challenges that resulted are discussed. Whilst there is a wealth of literature that describes how families communicate information surrounding single genes, there is very little which explores the experience of communication about whole, shared genomes. The experiences described in this paper provide an insight into this new territory.
KeywordsDirect-to-consumer genetic testing Family communication Genotype Whole family genotyping Custodian of genetic information Consent Genetic risk
I am highly indebted to Anna Middleton who helped me write this paper and think about its structure and contents. I am grateful to Darren Logan for his advice on how to handle personal genotype data. I acknowledge Rafael Jimenez for his work on the implementation of myKaryoView. I thank Gustavo Glusman for his comments on an early version of this manuscript.
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