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Review
. 2019 Mar 5;133(5):697-708.
doi: 10.1042/CS20180436. Print 2019 Mar 15.

Recent developments in genetic/genomic medicine

Rachel H Horton  1 , Anneke M Lucassen  2
Affiliations
Review

Recent developments in genetic/genomic medicine

Rachel H Horton et al. Clin Sci (Lond). .

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.

Keywords: ethics; genetics; genomics.

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Conflict of interest statement

The authors declare that there are no competing interests associated with the manuscript.

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