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Content Analysis of Informed Consent for Whole Genome Sequencing Offered by Direct-to-Consumer Genetic Testing Companies

Niemiec, Emilia LU orcid ; Borry, Pascal ; Pinxten, Wim and Howard, Heidi Carmen LU (2016) In Human Mutation 37(12). p.1248-1256
Abstract

Whole exome sequencing (WES) and whole genome sequencing (WGS) have become increasingly available in the research and clinical settings and are now also being offered by direct-to-consumer (DTC) genetic testing (GT) companies. This offer can be perceived as amplifying the already identified concerns regarding adequacy of informed consent (IC) for both WES/WGS and the DTC GT context. We performed a qualitative content analysis of Websites of four companies offering WES/WGS DTC regarding the following elements of IC: pre-test counseling, benefits and risks, and incidental findings (IFs). The analysis revealed concerns, including the potential lack of pre-test counseling in three of the companies studied, missing relevant information in... (More)

Whole exome sequencing (WES) and whole genome sequencing (WGS) have become increasingly available in the research and clinical settings and are now also being offered by direct-to-consumer (DTC) genetic testing (GT) companies. This offer can be perceived as amplifying the already identified concerns regarding adequacy of informed consent (IC) for both WES/WGS and the DTC GT context. We performed a qualitative content analysis of Websites of four companies offering WES/WGS DTC regarding the following elements of IC: pre-test counseling, benefits and risks, and incidental findings (IFs). The analysis revealed concerns, including the potential lack of pre-test counseling in three of the companies studied, missing relevant information in the risks and benefits sections, and potentially misleading information for consumers. Regarding IFs, only one company, which provides opportunistic screening, provides basic information about their management. In conclusion, some of the information (and related practices) present on the companies’ Web pages salient to the consent process are not adequate in reference to recommendations for IC for WGS or WES in the clinical context. Requisite resources should be allocated to ensure that commercial companies are offering high-throughput sequencing under responsible conditions, including an adequate consent process.

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author
; ; and
publishing date
type
Contribution to journal
publication status
published
subject
keywords
consumer genomics, direct-to-consumer genetic testing, informed consent, whole exome sequencing, whole genome sequencing
in
Human Mutation
volume
37
issue
12
pages
9 pages
publisher
John Wiley & Sons Inc.
external identifiers
  • pmid:27647801
  • scopus:84990847986
ISSN
1059-7794
DOI
10.1002/humu.23122
language
English
LU publication?
no
id
2762acd2-cc08-4930-ba0c-49be79279a73
date added to LUP
2020-11-17 17:26:16
date last changed
2024-04-03 16:31:47
@article{2762acd2-cc08-4930-ba0c-49be79279a73,
  abstract     = {{<p>Whole exome sequencing (WES) and whole genome sequencing (WGS) have become increasingly available in the research and clinical settings and are now also being offered by direct-to-consumer (DTC) genetic testing (GT) companies. This offer can be perceived as amplifying the already identified concerns regarding adequacy of informed consent (IC) for both WES/WGS and the DTC GT context. We performed a qualitative content analysis of Websites of four companies offering WES/WGS DTC regarding the following elements of IC: pre-test counseling, benefits and risks, and incidental findings (IFs). The analysis revealed concerns, including the potential lack of pre-test counseling in three of the companies studied, missing relevant information in the risks and benefits sections, and potentially misleading information for consumers. Regarding IFs, only one company, which provides opportunistic screening, provides basic information about their management. In conclusion, some of the information (and related practices) present on the companies’ Web pages salient to the consent process are not adequate in reference to recommendations for IC for WGS or WES in the clinical context. Requisite resources should be allocated to ensure that commercial companies are offering high-throughput sequencing under responsible conditions, including an adequate consent process.</p>}},
  author       = {{Niemiec, Emilia and Borry, Pascal and Pinxten, Wim and Howard, Heidi Carmen}},
  issn         = {{1059-7794}},
  keywords     = {{consumer genomics; direct-to-consumer genetic testing; informed consent; whole exome sequencing; whole genome sequencing}},
  language     = {{eng}},
  month        = {{12}},
  number       = {{12}},
  pages        = {{1248--1256}},
  publisher    = {{John Wiley & Sons Inc.}},
  series       = {{Human Mutation}},
  title        = {{Content Analysis of Informed Consent for Whole Genome Sequencing Offered by Direct-to-Consumer Genetic Testing Companies}},
  url          = {{http://dx.doi.org/10.1002/humu.23122}},
  doi          = {{10.1002/humu.23122}},
  volume       = {{37}},
  year         = {{2016}},
}