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Recent developments in genetic/genomic medicine

Recent developments in genetic/genomic medicine
Recent developments in genetic/genomic medicine
Advances in genetic technology are having a major impact in the clinic, and mean that many perceptions of the role and scope of genetic testing are having to change. Genomic testing brings with it a greater opportunity for diagnosis, or predictions of future diagnoses, but also an increased chance of uncertain or unexpected findings, many of which may have impacts for multiple members of a person’s family. In the past, genetic testing was rarely able to provide rapid results, but the increasing speed and availability of genomic testing is changing this, meaning that genomic information is increasingly influencing decisions around patient care in the acute inpatient setting. The landscape of treatment options for genetic conditions is shifting, which has evolving implications for clinical discussions around previously untreatable disorders. Furthermore, the point of access to testing is changing with increasing provision direct to the consumer outside the formal healthcare setting. This review outlines the ways in which genetic medicine is developing in light of technological advances.
0143-5221
697-708
Horton, Rachel
f79e8b73-2edc-47aa-b29a-1801ad10fe6b
Lucassen, Anneke
2eb85efc-c6e8-4c3f-b963-0290f6c038a5
Horton, Rachel
f79e8b73-2edc-47aa-b29a-1801ad10fe6b
Lucassen, Anneke
2eb85efc-c6e8-4c3f-b963-0290f6c038a5

Horton, Rachel and Lucassen, Anneke (2019) Recent developments in genetic/genomic medicine. Clinical Science, 133 (5), 697-708. (doi:10.1042/CS20180436).

Record type: Article

Abstract

Advances in genetic technology are having a major impact in the clinic, and mean that many perceptions of the role and scope of genetic testing are having to change. Genomic testing brings with it a greater opportunity for diagnosis, or predictions of future diagnoses, but also an increased chance of uncertain or unexpected findings, many of which may have impacts for multiple members of a person’s family. In the past, genetic testing was rarely able to provide rapid results, but the increasing speed and availability of genomic testing is changing this, meaning that genomic information is increasingly influencing decisions around patient care in the acute inpatient setting. The landscape of treatment options for genetic conditions is shifting, which has evolving implications for clinical discussions around previously untreatable disorders. Furthermore, the point of access to testing is changing with increasing provision direct to the consumer outside the formal healthcare setting. This review outlines the ways in which genetic medicine is developing in light of technological advances.

Text
Recent developments in genetic/genomic medicine - Accepted Manuscript
Restricted to Repository staff only until 27 February 2020.
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More information

Accepted/In Press date: 27 February 2019
Published date: 5 March 2019

Identifiers

Local EPrints ID: 428685
URI: https://eprints.soton.ac.uk/id/eprint/428685
ISSN: 0143-5221
PURE UUID: a785feab-c344-4a3b-b268-7a2c12514f07

Catalogue record

Date deposited: 06 Mar 2019 17:30
Last modified: 19 Jul 2019 16:40

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