Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe.

2.50
Hdl Handle:
http://hdl.handle.net/11287/620711
Title:
Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe.
Authors:
Sirchia, F.; Carrieri, D.; Dheensa, S.; Benjamin, C.; Kayserili, H.; Cordier, C.; van El, C. G.; Turnpenny, Peter D.; Melegh, B.; Mendes, Á.; Halbersma-Konings, T. F.; van Langen, I. M.; Lucassen, A. M.; Clarke, A. J.; Forzano, F.; Kelly, S. E.
Abstract:
Advances in genomic medicine are improving diagnosis and treatment of some health conditions, and the question of whether former patients should be recontacted is therefore timely. The issue of recontacting is becoming more important with increased integration of genomics in 'mainstream' medicine. Empirical evidence is needed to advance the discussion over whether and how recontacting should be implemented. We administered a web-based survey to genetic services in European countries to collect information about existing infrastructures and practices relevant to recontacting patients. The majority of the centres stated they had recontacted patients to update them about new significant information; however, there were no standardised practices or systems in place. There was also a multiplicity of understandings of the term 'recontacting', which respondents conflated with routine follow-up programmes, or even with post-test counselling. Participants thought that recontacting systems should be implemented to provide the best service to the patients and families. Nevertheless, many barriers to implementation were mentioned. These included: lack of resources and infrastructure, concerns about potential negative psychological consequences of recontacting, unclear operational definitions of recontacting, policies that prevent healthcare professionals from recontacting, and difficulties in locating patients after their last contact. These barriers are also intensified by the highly variable development (and establishment) of the specialties of medical genetics and genetic counselling across different European countries. Future recommendations about recontacting need to consider these barriers. It is also important to reach an 'operational definition' that can be useful in different countries.
Citation:
Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe. 2018 Eur. J. Hum. Genet.
Publisher:
Nature
Journal:
European journal of human genetics : EJHG
Issue Date:
23-Apr-2018
URI:
http://hdl.handle.net/11287/620711
DOI:
10.1038/s41431-018-0131-5
PubMed ID:
29681620
Additional Links:
http://dx.doi.org/10.1038/s41431-018-0131-5
Type:
Journal Article
Language:
en
ISSN:
1476-5438
Appears in Collections:
Clinical Genetics (Peninsula Genetics); 2018 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorSirchia, F.en
dc.contributor.authorCarrieri, D.en
dc.contributor.authorDheensa, S.en
dc.contributor.authorBenjamin, C.en
dc.contributor.authorKayserili, H.en
dc.contributor.authorCordier, C.en
dc.contributor.authorvan El, C. G.en
dc.contributor.authorTurnpenny, Peter D.en
dc.contributor.authorMelegh, B.en
dc.contributor.authorMendes, Á.en
dc.contributor.authorHalbersma-Konings, T. F.en
dc.contributor.authorvan Langen, I. M.en
dc.contributor.authorLucassen, A. M.en
dc.contributor.authorClarke, A. J.en
dc.contributor.authorForzano, F.en
dc.contributor.authorKelly, S. E.en
dc.date.accessioned2018-06-20T15:24:13Z-
dc.date.available2018-06-20T15:24:13Z-
dc.date.issued2018-04-23-
dc.identifier.citationRecontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe. 2018 Eur. J. Hum. Genet.en
dc.identifier.issn1476-5438-
dc.identifier.pmid29681620-
dc.identifier.doi10.1038/s41431-018-0131-5-
dc.identifier.urihttp://hdl.handle.net/11287/620711-
dc.description.abstractAdvances in genomic medicine are improving diagnosis and treatment of some health conditions, and the question of whether former patients should be recontacted is therefore timely. The issue of recontacting is becoming more important with increased integration of genomics in 'mainstream' medicine. Empirical evidence is needed to advance the discussion over whether and how recontacting should be implemented. We administered a web-based survey to genetic services in European countries to collect information about existing infrastructures and practices relevant to recontacting patients. The majority of the centres stated they had recontacted patients to update them about new significant information; however, there were no standardised practices or systems in place. There was also a multiplicity of understandings of the term 'recontacting', which respondents conflated with routine follow-up programmes, or even with post-test counselling. Participants thought that recontacting systems should be implemented to provide the best service to the patients and families. Nevertheless, many barriers to implementation were mentioned. These included: lack of resources and infrastructure, concerns about potential negative psychological consequences of recontacting, unclear operational definitions of recontacting, policies that prevent healthcare professionals from recontacting, and difficulties in locating patients after their last contact. These barriers are also intensified by the highly variable development (and establishment) of the specialties of medical genetics and genetic counselling across different European countries. Future recommendations about recontacting need to consider these barriers. It is also important to reach an 'operational definition' that can be useful in different countries.en
dc.language.isoenen
dc.publisherNatureen
dc.relation.urlhttp://dx.doi.org/10.1038/s41431-018-0131-5en
dc.rightsArchived with thanks to European journal of human genetics : EJHGen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.titleRecontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe.en
dc.typeJournal Articleen
dc.identifier.journalEuropean journal of human genetics : EJHGen
dc.type.versionIn press (epub ahead of print)en

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