Genetics Patients‘ Perspectives on Clinical Genomic Testing

Abstract

Aims Advances in next-generation sequencing technologies make it possible to envisage multiple contexts in which genomic tools might be used to enhance patient care. We describe how genetics patients and their caregivers view the promises and perils of clinical genomic testing. Patients & methods Fifty-one interviews with patients and parents of pediatric patients seeking genetic evaluation at an academic medical center. Results Themes from interviews include participants' enthusiasm for clinical genomic testing for diagnostic purposes, medical benefits and concerns about emotional and psychosocial burdens resulting from clinical genomic testing. Conclusion By clarifying these patients' and caregivers' views of clinical genomic testing, the findings we report can help to anticipate other patients' reactions to new forms of personalized medicine enabled by genomic technologies.

Opinions, hopes and concerns regarding pharmacogenomics: a comparison of healthy individuals, heart failure patients and heart transplant recipients

“…Indeed, the former were significantly more preoccupied about the potential negative impact of unfavorable test results on employment and insurability. Previous publications have mentioned these two issues as well, 8,10,11,14,[20][21][22][23][24][25]29,31,33,35,[39][40][41] but our study is the first to indicate that this concern is more prevalent in healthy individuals compared with patients with chronic diseases. Possible explanations for these intergroup differences include the fact that HF patients were older and more frequently retired and that many patients had already been denied insurance coverage due to their chronic illness.…”

“…Interestingly, we observed that willingness to undergo genomic testing for disease risk prediction was slightly inferior to that expressed for pharmacogenomics, probably because of the potential anxiety associated with unfavorable test results. 29 Other surveys reported moderate-to-high enthusiasm towards genetic risk assessment, 5,9,12,[30][31][32][33][34] and many revealed that people would accept such testing only if the targeted disease was preventable or treatable. 5,[31][32][33][34] As previous publications had already illustrated, 5,10,12,22,32,35 a large proportion of participants stated that knowing more about their genetic tendency to develop a particular disease would have a positive impact on their lifestyle.…”

“…Possible explanations for these intergroup differences include the fact that HF patients were older and more frequently retired and that many patients had already been denied insurance coverage due to their chronic illness. Although the group variable was not independently associated with the common fear of disclosure to unauthorized persons, 6,[10][11][12]14,[20][21][22]25,27,29,35,39,41 healthy volunteers appeared to be more worried about this possible lack of confidentiality. These observations are noteworthy, because healthy individuals such as those interviewed in our survey will most likely be the patients of tomorrow.…”

“…In this respect, a bill was recently introduced to amend the Canadian Human Rights Act to add genetic characteristics as a prohibited ground of discrimination. 43 Concerns related to the absence of any suitable drug following pharmacogenomic testing, 11 physicians' attitudes towards test results, 11,14 patients being pressured into accepting testing 11 and the negative psychological impact of unfavorable test results 10,11,22,29 were shared by all the three groups and had all been brought up in previous studies.…”

Is it Time for Genomic Counseling? Retrofitting Genetic Counseling for the Era of Genomic Medicine

“…With the advent of genome-wide testing now available across the lifespan from the prenatal period to childhood to adulthood, dramatic continued growth is predicted [1]. As the human genome has become more accessible through genetic testing, the public is increasingly optimistic that genetic information can be used to improve health [2,3], fueled by both media attention to genetic issues and direct advertising by companies offering genetic tests [4].…”