What is it about?
New genetic testing technologies mean the chance of finding a diagnosis for a child with a development disorder is greatly increased. 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.
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Why is it important?
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.
Perspectives
I am a Registered Genetic Counsellor working in the UK. I work with families with children with developmental disorders, as well as individuals with a wide range of genetic conditions. I wrote this essay as part of my registration portfolio. I have seen families going through genomic testing in my role, and feel strongly like they would benefit from more support during this process, hence the motivation for writing this essay. I hope the role of the genetic counsellor will be optimised for these families going forward, as genomic testing becomes used more commonly and diagnoses are more forthcoming.
Flora Joseph
All Wales Medical Genetics Service
Read the Original
This page is a summary of: The possible implications of advances in genetic testing technologies for Genetic Counsellors working with families of children with developmental disorders, F1000Research, April 2018, Faculty of 1000, Ltd.,
DOI: 10.12688/f1000research.14222.1.
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