The promise of personalized medicine depends on the ability to integrate genetic sequencing information into disease risk assessment for individuals. As genomic sequencing technology enters the realm of clinical care, its scale necessitates answers to key social and behavioral research questions about the complexities of understanding, communicating, and ultimately using sequence information to improve health. Our study captured the motivations and expectations of research participants who consented to participate in a research protocol, ClinSeq, which offers to return a subset of the data generated through high-throughput sequencing. We present findings from an exploratory study of 322 participants, most of whom identified themselves as white, non-Hispanic, and coming from higher socio-economic groups. Participants aged 45-65 years answered open-ended questions about the reasons they consented to ClinSeq and about what they anticipated would come of genomic sequencing. Two main reasons for participating were as follows: a conviction to altruism in promoting research, and a desire to learn more about genetic factors that contribute to one's own health risk. Overall, participants expected genomic research to help improve understanding of disease causes and treatments. Our findings offer a first glimpse into the motivations and expectations of individuals seeking their own genomic information, and provide initial insights into the value these early adopters of technology place on information generated by high-throughput sequencing studies. European Journal of Human Genetics (2011Genetics ( ) 19, 1213Genetics ( -1217 doi:10.1038/ejhg.2011; published online 6 July 2011Keywords: whole-genome sequencing; personalized medicine; early adopters INTRODUCTION Genomics has already revolutionized the biological sciences, and the future application of genomics to health care has the potential to improve prevention, diagnosis, and treatment of disease by refining individual risk in the clinical setting. However, this potential can only be realized through translational and clinical research studies to establish the relationship of disease risk to genomic variants derived from sequencing data. These studies will necessitate the enrollment of thousands of clinical research participants, and thus methods and approaches need to be developed to interact and communicate with participants regarding clinical genomics. As well, these clinical genomics studies will serve as the foundation for the development of approaches to health-care providers' interactions with patients undergoing sequencing in the clinic and hospital wards of the future.High-throughput genomic sequencing can elucidate an enormous range of sequence and copy number variations for a given individual. A typical whole-genome sequence determination yields on the order of 4 000 000 sequence variations that differ from the current human reference sequence. While most are benign or of unknown consequence, some are associated with a significant increased risk of disease for ...

Objective Applying genetic susceptibility information to improve health will likely require educating patients about abstract concepts, for which there is little existing research. This experimental study examined the effect of learning mode on comprehension of a genomic concept. Methods 156 individuals aged 18–40 without specialized knowledge were randomly assigned to either a virtual reality active learning or didactic learning condition. The outcome was comprehension (recall, transfer, mental models). Results Change in recall was greater for didactic learning than active learning (p<0.001). Mean transfer and change in mental models were also higher for didactic learning (p<0.0001 and p<0.05, respectively). Believability was higher for didactic learning (p<0.05), while ratings for motivation (p<0.05), interest (p<0.0001), and enjoyment (p<0.0001) were higher for active learning, but these variables did not mediate the association between learning mode and comprehension. Conclusion These results show that learning mode affects comprehension, but additional research is needed regarding how and in what contexts different approaches are best for educating patients about abstract concepts. Practice implications Didactic, interpersonal health education approaches may be more effective than interactive games in educating patients about abstract, unfamiliar concepts. These findings indicate the importance of traditional health education approaches in emerging areas like genomics.

Finding ways to cope with social stigmatization is an important aspect of achieving adaptation for people living with visible genetic differences. This study describes the way individuals with craniofacial differences use an innovative photography and video experience with Positive Exposure (PE), a non-profit organization based in New York City, as a way to cope with their conditions. Thirty-five individuals between 12 and 61 years of age participated in this study. We administered surveys comprised of open-ended qualitative questions and quantitative measures designed to assess self-esteem, perceived stigma, and hopefulness. Data for this analysis was generated from the written questionnaires and interview transcripts.Most participants reported high levels of self-esteem and hopefulness, suggesting that they were relatively well adapted to their condition. Almost all participants described experiences of stigmatization throughout their lives. However, participants demonstrated their ability to implement a variety of coping strategies to manage stigma. 'Helping others' emerged as a prominent strategy among participants, aiding in the often lifelong process of adapting to their genetic difference. PE was described as an avenue through which participants could reach out to individuals and society at large, helping them adapt further to their condition. 'Helping others' may also benefit individuals with craniofacial differences who do not consider themselves to be well adapted to their condition. Health care providers can collaborate with PE, advocacy groups and other community or support groups to identify additional ways individuals with craniofacial differences can help themselves by reaching out to others.