Identifying Aspects of Public Attitudes Toward Whole Genome Sequencing to Inform the Integration of Genomics into Care

Abstract

<b><i>Introduction:</i></b> The growth of global sequencing initiatives and commercial genomic test offerings suggests the public will increasingly be confronted with decisions about sequencing. Understanding public attitudes can assist efforts to integrate sequencing into care and inform the development of public education and outreach strategies. <b><i>Methods:</i></b> A 48-item online survey was advertised on Facebook in Eastern Canada and hosted on SurveyMonkey in late 2018. The survey measured public interest in whole genome sequencing and attitudes toward various aspects of sequencing using vignettes, scaled, and open-ended items. <b><i>Results:</i></b> While interest in sequencing was high, critical attitudes were observed. In particular, items measuring features of patient control and choice regarding genomic data were strongly endorsed by respondents. Majority wanted to specify upfront how their data could be used, retain the ability to withdraw their sample at a later date, sign a written consent form, and speak to a genetic counselor prior to sequencing. Concerns about privacy and unauthorized access to data were frequently observed. Education level was the sociodemographic variable most often related to attitude statements such that those with higher levels of education generally displayed more critical attitudes. <b><i>Conclusions:</i></b> Attitudes identified here could be used to inform the development of implementation strategies for genomic medicine. Findings suggest health systems must address patient concerns about privacy, consent practices, and the strong desire to control what happens to their genomic data through public outreach and education. Specific oversight procedures and policies that are clearly communicated to the public will be required.

Digital Health for Supporting Precision Medicine in Pediatric Endocrine Disorders: Opportunities for Improved Patient Care

“…Current challenges facing geneticists include decisions on type of DNA sequencing appropriate for each clinical situation, and best choice of laboratory and facilities for data interpretation. Patient concerns of confidentiality and control over genomic data must also be investigated and addressed for integration into healthcare ( 46 , 47 ). Examples of genetic analysis linked to precision medicine are seen in the investigation of the multiple causes of short stature, including epigenetic defects, syndromic growth failure and the search for causative genetic variants of obesity of endocrine—either pro-opiomelanocortin (POMC) deficiency or leptin receptor (LEPR) deficiency obesity—or syndromic origin ( 17 , 41 , 45 , 48 – 52 ).…”

Challenges in Improving Genomic Literacy: Results from National and Regional Surveys of Genomic Knowledge, Attitudes, Concerns, and Behaviors

“…The attitude scale used in this study could be improved with additional questions about specific elements of genomic research and genetic testing, such as funding or social justice issues. Thus, there is a need, and a movement in current research, to develop and validate high-quality measures of genomic knowledge, attitudes, and behavior [49, 50]…”

“…The attitude scale used in this study could be improved with additional questions about specific elements of genomic research and genetic testing, such as funding or social justice issues. Thus, there is a need, and a movement in current research, to develop and validate high-quality measures of genomic knowledge, attitudes, and behavior [49,50] The originality of some of our measures of knowledge and behaviors may make interpretation more difficult. For example, we surveyed participants about behaviors they already performed as well as their intentions to perform them in the future.…”

How does the genomic naive public perceive whole genomic testing for health purposes? A scoping review

“…Sixteen studies were included in the analysis [46][47][48][49][50][51][52][53][54][55][56][57][58][59][60][61]. Most were quantitative (n = 12), using questionnaires to assess public perceptions [46-52, 54, 56, 57, 59, 61].…”

“…The US has contributed the most to this field thus far, undertaking six of the 16 studies identified in the literature search [49,50,52,53,55,58]. This is followed by Canada (n = 2) [48,51] and Japan (n = 2) [54,59]. Each of the following countries contributed one study: Jordan [56], Korea [57], The Netherlands [61], Singapore [60], Qatar [46] and the UK [47].…”