Cargando…

A Key Role for the Genetic Counsellor in the Genomics Era

New genetic testing technologies such as microarrays and whole exome sequencing mean the diagnostic potential for a child with a development disorder is greatly increased over traditional testing techniques.  With this increased potential comes increased expectations from families and professionals...

Descripción completa

Detalles Bibliográficos
Autor principal: Joseph, Flora M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000 Research Limited 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6338239/
https://www.ncbi.nlm.nih.gov/pubmed/30687495
http://dx.doi.org/10.12688/f1000research.14222.2
_version_ 1783388425944039424
author Joseph, Flora M.
author_facet Joseph, Flora M.
author_sort Joseph, Flora M.
collection PubMed
description New genetic testing technologies such as microarrays and whole exome sequencing mean the diagnostic potential for a child with a development disorder is greatly increased over traditional testing techniques.  With this increased potential comes increased expectations from families and professionals about the answers a diagnosis will provide.  However, limitations remain and a proportion of individuals will continue to remain undiagnosed.  In addition, some individuals will receive novel or very rare diagnoses about which very little is known in terms of prognosis and effective treatments.  In this paper, I present an argument for why these families would benefit from additional Genetic Counsellor support and how Clinical Genetics services in the UK could provide this support.  I acknowledge that resources are limited, but as demands on services increase and interactions with families become shorter, I argue that this kind of service should be prioritised, for the benefit of these families.
format Online
Article
Text
id pubmed-6338239
institution National Center for Biotechnology Information
language English
publishDate 2018
publisher F1000 Research Limited
record_format MEDLINE/PubMed
spelling pubmed-63382392019-01-24 A Key Role for the Genetic Counsellor in the Genomics Era Joseph, Flora M. F1000Res Opinion Article New genetic testing technologies such as microarrays and whole exome sequencing mean the diagnostic potential for a child with a development disorder is greatly increased over traditional testing techniques.  With this increased potential comes increased expectations from families and professionals about the answers a diagnosis will provide.  However, limitations remain and a proportion of individuals will continue to remain undiagnosed.  In addition, some individuals will receive novel or very rare diagnoses about which very little is known in terms of prognosis and effective treatments.  In this paper, I present an argument for why these families would benefit from additional Genetic Counsellor support and how Clinical Genetics services in the UK could provide this support.  I acknowledge that resources are limited, but as demands on services increase and interactions with families become shorter, I argue that this kind of service should be prioritised, for the benefit of these families. F1000 Research Limited 2018-12-17 /pmc/articles/PMC6338239/ /pubmed/30687495 http://dx.doi.org/10.12688/f1000research.14222.2 Text en Copyright: © 2018 Joseph FM http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Opinion Article
Joseph, Flora M.
A Key Role for the Genetic Counsellor in the Genomics Era
title A Key Role for the Genetic Counsellor in the Genomics Era
title_full A Key Role for the Genetic Counsellor in the Genomics Era
title_fullStr A Key Role for the Genetic Counsellor in the Genomics Era
title_full_unstemmed A Key Role for the Genetic Counsellor in the Genomics Era
title_short A Key Role for the Genetic Counsellor in the Genomics Era
title_sort key role for the genetic counsellor in the genomics era
topic Opinion Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6338239/
https://www.ncbi.nlm.nih.gov/pubmed/30687495
http://dx.doi.org/10.12688/f1000research.14222.2
work_keys_str_mv AT josephfloram akeyroleforthegeneticcounsellorinthegenomicsera
AT josephfloram keyroleforthegeneticcounsellorinthegenomicsera