| Title |
Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process
|
|---|---|
| Published in |
European Journal of Human Genetics, January 2013
|
| DOI | 10.1038/ejhg.2012.297 |
| Pubmed ID | |
| Authors |
Carmen Ayuso, José M Millán, Marta Mancheño, Rafael Dal-Ré |
| Abstract |
The development of new massive sequencing techniques has now made it possible to significantly reduce the time and costs of whole-genome sequencing (WGS). Although WGS will soon become a routine testing tool, new ethical issues have surfaced. In light of these concerns, a systematic review of papers published by expert authors on IC or specific ethical issues related to IC for WGS analysis in the clinical setting has been conducted using the Pubmed, Embase and Cochrane Library databases. Additionally, a search was conducted for international ethical guidelines for genetic studies published by scientific societies and ethical boards. Based on these documents, a minimum set of information to be provided to patients in the IC form was determined. Fourteen and seven documents from the database search and from scientific societies, respectively, were selected. A very high level of consistency between them was found regarding the recommended IC form content. Pre-test counselling and general information common to all genetic tests should be included in the IC form for WGS for diagnostic purposes, but additional information addressing specific issues on WGS are proposed, such as a plan for the ethical, clinically oriented return of incidental findings. Moreover, storage of additional information for future use should also be agreed upon with the patient in advance. Recommendations for WGS studies in the clinical setting concerning both the elements of information and the process of obtaining the IC as well as how to handle the results obtained are proposed. |
X Demographics
The data shown below were collected from the profiles of 10 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 Kingdom | 4 | 40% |
| United States | 3 | 30% |
| Spain | 1 | 10% |
| Netherlands | 1 | 10% |
| Unknown | 1 | 10% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 5 | 50% |
| Scientists | 4 | 40% |
| Practitioners (doctors, other healthcare professionals) | 1 | 10% |
Mendeley readers
The data shown below were compiled from readership statistics for 171 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Brazil | 2 | 1% |
| United Kingdom | 2 | 1% |
| United States | 2 | 1% |
| South Africa | 1 | <1% |
| Canada | 1 | <1% |
| Italy | 1 | <1% |
| Unknown | 162 | 95% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 39 | 23% |
| Student > Master | 28 | 16% |
| Student > Ph. D. Student | 24 | 14% |
| Other | 17 | 10% |
| Student > Bachelor | 12 | 7% |
| Other | 32 | 19% |
| Unknown | 19 | 11% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 49 | 29% |
| Agricultural and Biological Sciences | 40 | 23% |
| Biochemistry, Genetics and Molecular Biology | 30 | 18% |
| Social Sciences | 7 | 4% |
| Psychology | 4 | 2% |
| Other | 17 | 10% |
| Unknown | 24 | 14% |
Attention Score in Context
This research output has an Altmetric Attention Score of 10. 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 11 November 2019.
All research outputs
#3,253,589
of 22,919,505 outputs
Outputs from European Journal of Human Genetics
#923
of 3,445 outputs
Outputs of similar age
#35,604
of 285,791 outputs
Outputs of similar age from European Journal of Human Genetics
#12
of 53 outputs
Altmetric has tracked 22,919,505 research outputs across all sources so far. Compared to these this one has done well and is in the 85th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 3,445 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 9.9. This one has gotten more attention than average, scoring higher than 73% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 285,791 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 87% of its contemporaries.
We're also able to compare this research output to 53 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 79% of its contemporaries.