| Title |
Stakeholders’ Opinions on the Implementation of Pediatric Whole Exome Sequencing: Implications for Informed Consent
|
|---|---|
| Published in |
Journal of Genetic Counseling, July 2013
|
| DOI | 10.1007/s10897-013-9626-y |
| Pubmed ID | |
| Authors |
Brooke L. Levenseller, Danielle J. Soucier, Victoria A. Miller, Diana Harris, Laura Conway, Barbara A. Bernhardt |
| Abstract |
Advances in whole genome and whole exome sequencing (WGS/WES) technologies have led to increased availability in clinical settings. Currently, there are few guidelines relating to the process and content of informed consent for WGS/WES, nor to which results should be returned to families. To address this gap, we conducted focus groups to assess the views of professionals, parents, and adolescents for the future implementation of WES. The discussions assessed understanding of the risks and benefits of WES, preferences for the informed consent discussion, process for return of results, and the decision-making role of the pediatric patient. Professional focus group participants included bioethicists, physicians, laboratory directors, and genetic counselors. Parent focus groups included individuals with children who could be offered sequencing due to a potential genetic cause of the child's condition. On-line discussion groups were conducted with adolescents aged 13-17 who had a possible genetic disorder. We identified discrepancies between professionals and patient groups regarding the process and content of informed consent, preference for return of results, and the role of the child in decision-making. Professional groups were concerned with the uncertainty regarding professional obligations, changing interpretation in genomic medicine, and practical concerns of returning results over time. Parent and adolescent groups focused on patient choice and personal utility of sequencing results. Each group expressed different views on the role of the child in decision-making and return of results. These discrepancies represent potential barriers to informed consent and a challenge for genetic counselors regarding the involvement of pediatric patients in decision-making and return of results discussions. |
X Demographics
The data shown below were collected from the profiles of 6 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 4 | 67% |
| Unknown | 2 | 33% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 33% |
| Scientists | 2 | 33% |
| Practitioners (doctors, other healthcare professionals) | 1 | 17% |
| Science communicators (journalists, bloggers, editors) | 1 | 17% |
Mendeley readers
The data shown below were compiled from readership statistics for 118 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | <1% |
| Switzerland | 1 | <1% |
| Canada | 1 | <1% |
| Unknown | 115 | 97% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 26 | 22% |
| Researcher | 20 | 17% |
| Other | 12 | 10% |
| Student > Bachelor | 11 | 9% |
| Student > Doctoral Student | 8 | 7% |
| Other | 25 | 21% |
| Unknown | 16 | 14% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 39 | 33% |
| Biochemistry, Genetics and Molecular Biology | 14 | 12% |
| Agricultural and Biological Sciences | 10 | 8% |
| Social Sciences | 10 | 8% |
| Psychology | 10 | 8% |
| Other | 13 | 11% |
| Unknown | 22 | 19% |
Attention Score in Context
This research output has an Altmetric Attention Score of 4. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 30 April 2015.
All research outputs
#6,683,150
of 22,714,025 outputs
Outputs from Journal of Genetic Counseling
#411
of 1,141 outputs
Outputs of similar age
#56,863
of 194,568 outputs
Outputs of similar age from Journal of Genetic Counseling
#9
of 17 outputs
Altmetric has tracked 22,714,025 research outputs across all sources so far. This one has received more attention than most of these and is in the 70th percentile.
So far Altmetric has tracked 1,141 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.9. This one has gotten more attention than average, scoring higher than 63% of its peers.
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We're also able to compare this research output to 17 others from the same source and published within six weeks on either side of this one. This one is in the 47th percentile – i.e., 47% of its contemporaries scored the same or lower than it.