Considerations for the impact of personal genome information: a study of genomic profiling among genetics and genomics professionals

J Genet Couns. 2010 Aug;19(4):387-401. doi: 10.1007/s10897-010-9297-x. Epub 2010 Mar 30.


With the expansion of genomic-based clinical applications, it is important to consider the potential impact of this information particularly in terms of how it may be interpreted and applied to personal perceptions of health. As an initial step to exploring this question, we conducted a study to gain insight into potential psychosocial and health motivations for, as well as impact associated with, undergoing testing and disclosure of individual "variomes" (catalogue of genetic variations). To enable the collection of fully informed opinions, 14 participants with advanced training in genetics underwent whole-genome profiling and received individual reports of estimated genomic ancestry, genotype data and reported disease associations. Emotional, cognitive and health behavioral impact was assessed through one-on-one interviews and questionnaires administered pre-testing and 1-week and 3-months post-testing. Notwithstanding the educational and professional bias of our study population, the results identify several areas of research for consideration within additional populations. With the development of new and less costly approaches to genome risk profiling, now available for purchase direct-to-consumers, it is essential that genome science research be conducted in parallel with studies assessing the societal and policy implications of genome information for personal use.

MeSH terms

  • Adult
  • Female
  • Genetic Counseling*
  • Genetic Testing*
  • Genome, Human*
  • Humans
  • Male
  • Middle Aged
  • Precision Medicine*
  • Workforce