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Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics

Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics
Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics
Technological advances have increased the availability of genomic data in research and the clinic. If, over time, interpretation of the significance of the data changes, or new information becomes available, the question arises as to whether recontacting the patient and/or family is indicated. The Public and Professional Policy Committee of the European Society of Human Genetics (ESHG), together with research groups from the UK and the Netherlands, developed recommendations on recontacting which, after public consultation, have been endorsed by ESHG Board. In clinical genetics, recontacting for updating patients with new, clinically significant information related to their diagnosis or previous genetic testing may be justifiable and, where possible, desirable. Consensus about the type of information that should trigger recontacting converges around its clinical and personal utility. The organization of recontacting procedures and policies in current health care systems is challenging. It should be sustainable, commensurate with previously obtained consent, and a shared responsibility between healthcare providers, laboratories, patients, and other stakeholders. Optimal use of the limited clinical resources currently available is needed. Allocation of dedicated resources for recontacting should be considered. Finally, there is a need for more evidence, including economic and utility of information for people, to inform which strategies provide the most cost-effective use of healthcare resources for recontacting.
1018-4813
Carrieri, Daniele
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Howard, Heidi C.
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Benjamin, Caroline
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Clarke, Angus J.
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Dheensa, Sandi
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Doheny, Shane
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Hawkins, Naomi
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Halbersma-Konings, Tanya F.
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Jackson, Leigh
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Kayserili, Hülya
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Kelly, Susan E.
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Lucassen, Anneke
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Mendes, Alvaro
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Rial-Sebbag, Emmanuelle
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Stefansdottir, Vigdis
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Turnpenny, Peter
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van El, Carla G.
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Van Langen, Irene M.
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Cornel, Martina C.
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Forzano, Francesca
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Carrieri, Daniele
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Howard, Heidi C.
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Benjamin, Caroline
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Clarke, Angus J.
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Dheensa, Sandi
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Doheny, Shane
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Hawkins, Naomi
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Halbersma-Konings, Tanya F.
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Jackson, Leigh
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Kayserili, Hülya
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Kelly, Susan E.
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Lucassen, Anneke
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Mendes, Alvaro
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Rial-Sebbag, Emmanuelle
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Stefansdottir, Vigdis
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Turnpenny, Peter
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van El, Carla G.
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Van Langen, Irene M.
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Cornel, Martina C.
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Forzano, Francesca
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Carrieri, Daniele, Howard, Heidi C., Benjamin, Caroline, Clarke, Angus J., Dheensa, Sandi, Doheny, Shane, Hawkins, Naomi, Halbersma-Konings, Tanya F., Jackson, Leigh, Kayserili, Hülya, Kelly, Susan E., Lucassen, Anneke, Mendes, Alvaro, Rial-Sebbag, Emmanuelle, Stefansdottir, Vigdis, Turnpenny, Peter, van El, Carla G., Van Langen, Irene M., Cornel, Martina C. and Forzano, Francesca (2018) Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics. European Journal of Human Genetics. (doi:10.1038/s41431-018-0285-1).

Record type: Article

Abstract

Technological advances have increased the availability of genomic data in research and the clinic. If, over time, interpretation of the significance of the data changes, or new information becomes available, the question arises as to whether recontacting the patient and/or family is indicated. The Public and Professional Policy Committee of the European Society of Human Genetics (ESHG), together with research groups from the UK and the Netherlands, developed recommendations on recontacting which, after public consultation, have been endorsed by ESHG Board. In clinical genetics, recontacting for updating patients with new, clinically significant information related to their diagnosis or previous genetic testing may be justifiable and, where possible, desirable. Consensus about the type of information that should trigger recontacting converges around its clinical and personal utility. The organization of recontacting procedures and policies in current health care systems is challenging. It should be sustainable, commensurate with previously obtained consent, and a shared responsibility between healthcare providers, laboratories, patients, and other stakeholders. Optimal use of the limited clinical resources currently available is needed. Allocation of dedicated resources for recontacting should be considered. Finally, there is a need for more evidence, including economic and utility of information for people, to inform which strategies provide the most cost-effective use of healthcare resources for recontacting.

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More information

Accepted/In Press date: 25 September 2018
e-pub ahead of print date: 11 October 2018

Identifiers

Local EPrints ID: 427323
URI: http://eprints.soton.ac.uk/id/eprint/427323
ISSN: 1018-4813
PURE UUID: a7e9a293-0a3b-4a1f-8dce-4a6aa8d1541d
ORCID for Anneke Lucassen: ORCID iD orcid.org/0000-0003-3324-4338

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Date deposited: 11 Jan 2019 17:30
Last modified: 16 Mar 2024 03:23

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Contributors

Author: Daniele Carrieri
Author: Heidi C. Howard
Author: Caroline Benjamin
Author: Angus J. Clarke
Author: Sandi Dheensa
Author: Shane Doheny
Author: Naomi Hawkins
Author: Tanya F. Halbersma-Konings
Author: Leigh Jackson
Author: Hülya Kayserili
Author: Susan E. Kelly
Author: Anneke Lucassen ORCID iD
Author: Alvaro Mendes
Author: Emmanuelle Rial-Sebbag
Author: Vigdis Stefansdottir
Author: Peter Turnpenny
Author: Carla G. van El
Author: Irene M. Van Langen
Author: Martina C. Cornel
Author: Francesca Forzano

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