The University of Southampton
University of Southampton Institutional Repository

A 'joint venture' model of recontacting in clinical genomics: challenges for responsible implementation

A 'joint venture' model of recontacting in clinical genomics: challenges for responsible implementation
A 'joint venture' model of recontacting in clinical genomics: challenges for responsible implementation
Advances in genomics often lead healthcare professionals (HCPs) to learn new information, e.g., about reinterpreted variants that could have clinical significance for patients seen previously. A question arises of whether HCPs should recontact these former patients. We present some findings interrogating the views of patients (or parents of patients) with a rare or undiagnosed condition about how such recontacting might be organised ethically and practically. Forty-one interviews were analysed thematically. Participants suggested a 'joint venture' model in which efforts to recontact are shared with HCPs. Some proposed an ICT-approach involving an electronic health record that automatically alerts them to potentially relevant updates. The need for rigorous privacy controls and transparency about who could access their data was emphasised. Importantly, these findings highlight that the lack of clarity about recontacting is a symptom of a wider problem: the lack of necessary infrastructure to pool genomic data responsibly, to aggregate it with other health data, and to enable patients/parents to receive updates. We hope that our findings will instigate a debate about the way responsibilities for recontacting under any joint venture model could be allocated, as well as the limitations and normative implications of using ICT as a solution to this intractable problem. As a first step to delineating responsibilities in the clinical setting, we suggest HCPs should routinely discuss recontacting with patients/parents, including the new information that should trigger a HCP to initiate recontact, as part of the consent process for genetic testing.
1769-7212
403-409
Dheensa, Sandi
d7d7e2bb-8def-4fad-9e1d-33d8141a0c9c
Carrieri, Daniele
303907f3-1f8e-40af-afcb-0c4571990566
Kelly, Susan
21a70843-a498-4987-95ad-6505c7a7e34c
Clarke, Angus
30f3d3dd-3caa-4465-82e8-a8c4316dfaa1
Doheny, Shane
a7cab2c1-b348-41c5-85d3-322900282f64
Turnpenny, Peter
824b7e16-e800-4f2e-88f9-8cc9b97b871d
Lucassen, Anneke
2eb85efc-c6e8-4c3f-b963-0290f6c038a5
Dheensa, Sandi
d7d7e2bb-8def-4fad-9e1d-33d8141a0c9c
Carrieri, Daniele
303907f3-1f8e-40af-afcb-0c4571990566
Kelly, Susan
21a70843-a498-4987-95ad-6505c7a7e34c
Clarke, Angus
30f3d3dd-3caa-4465-82e8-a8c4316dfaa1
Doheny, Shane
a7cab2c1-b348-41c5-85d3-322900282f64
Turnpenny, Peter
824b7e16-e800-4f2e-88f9-8cc9b97b871d
Lucassen, Anneke
2eb85efc-c6e8-4c3f-b963-0290f6c038a5

Dheensa, Sandi, Carrieri, Daniele, Kelly, Susan, Clarke, Angus, Doheny, Shane, Turnpenny, Peter and Lucassen, Anneke (2017) A 'joint venture' model of recontacting in clinical genomics: challenges for responsible implementation European Journal of Medical Genetics, 60, (7), pp. 403-409. (doi:10.1016/j.ejmg.2017.05.001).

Record type: Article

Abstract

Advances in genomics often lead healthcare professionals (HCPs) to learn new information, e.g., about reinterpreted variants that could have clinical significance for patients seen previously. A question arises of whether HCPs should recontact these former patients. We present some findings interrogating the views of patients (or parents of patients) with a rare or undiagnosed condition about how such recontacting might be organised ethically and practically. Forty-one interviews were analysed thematically. Participants suggested a 'joint venture' model in which efforts to recontact are shared with HCPs. Some proposed an ICT-approach involving an electronic health record that automatically alerts them to potentially relevant updates. The need for rigorous privacy controls and transparency about who could access their data was emphasised. Importantly, these findings highlight that the lack of clarity about recontacting is a symptom of a wider problem: the lack of necessary infrastructure to pool genomic data responsibly, to aggregate it with other health data, and to enable patients/parents to receive updates. We hope that our findings will instigate a debate about the way responsibilities for recontacting under any joint venture model could be allocated, as well as the limitations and normative implications of using ICT as a solution to this intractable problem. As a first step to delineating responsibilities in the clinical setting, we suggest HCPs should routinely discuss recontacting with patients/parents, including the new information that should trigger a HCP to initiate recontact, as part of the consent process for genetic testing.

PDF 1-s2.0-S1769721217301428-main - Version of Record
Available under License Creative Commons Attribution.
Download (377kB)

More information

Accepted/In Press date: 9 May 2017
e-pub ahead of print date: 10 May 2017
Published date: July 2017

Identifiers

Local EPrints ID: 412612
URI: http://eprints.soton.ac.uk/id/eprint/412612
ISSN: 1769-7212
PURE UUID: f85849f6-7c89-4c5b-80d4-230258eace89

Catalogue record

Date deposited: 24 Jul 2017 16:32
Last modified: 01 Aug 2017 16:31

Export record

Altmetrics

Contributors

Author: Sandi Dheensa
Author: Daniele Carrieri
Author: Susan Kelly
Author: Angus Clarke
Author: Shane Doheny
Author: Peter Turnpenny
Author: Anneke Lucassen

University divisions

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×