Genomic analysis in clinical practice: What are the challenges?
Genomic analysis in clinical practice: What are the challenges?
Targeted genetic testing for certain genetic disorders (for example, chromosomal and monogenic/mendelian conditions) has been routinely offered in clinical settings for several decades. Tests were selected on the basis of signs, symptoms, or a family history of a condition or feature, because this was the most cost-effective way of achieving diagnoses. As the technology to analyze the genetic code has become several 1000-fold cheaper and faster than when such services were introduced, targeted analyses have been replaced by broader ones, notably array comparative genomic hybridization, and whole exome and whole genome analysis. The outputs from these broader technologies require novel bioinformatic approaches to interpret which of the millions of variations routinely detected are disease causing, or, more likely, influence disease predisposition. This chapter discusses some of the implications this shift from focused to broad approaches has for practices of consent and for communication of genetic testing results.
Additional findings, Communication, Confidentiality, Consent, Familial implications, Genomic analysis, Incidental findings (IFs), Recontacting policy, Right to know/not to know, Targeted versus broad testing
191-199
Lucassen, A.
2eb85efc-c6e8-4c3f-b963-0290f6c038a5
van Langen, I.
16be3721-7eec-47a2-b749-d060273f8914
20 June 2016
Lucassen, A.
2eb85efc-c6e8-4c3f-b963-0290f6c038a5
van Langen, I.
16be3721-7eec-47a2-b749-d060273f8914
Lucassen, A. and van Langen, I.
(2016)
Genomic analysis in clinical practice: What are the challenges?
In,
Medical and Health Genomics.
Elsevier Inc., .
(doi:10.1016/B978-0-12-420196-5.00014-9).
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Book Section
Abstract
Targeted genetic testing for certain genetic disorders (for example, chromosomal and monogenic/mendelian conditions) has been routinely offered in clinical settings for several decades. Tests were selected on the basis of signs, symptoms, or a family history of a condition or feature, because this was the most cost-effective way of achieving diagnoses. As the technology to analyze the genetic code has become several 1000-fold cheaper and faster than when such services were introduced, targeted analyses have been replaced by broader ones, notably array comparative genomic hybridization, and whole exome and whole genome analysis. The outputs from these broader technologies require novel bioinformatic approaches to interpret which of the millions of variations routinely detected are disease causing, or, more likely, influence disease predisposition. This chapter discusses some of the implications this shift from focused to broad approaches has for practices of consent and for communication of genetic testing results.
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e-pub ahead of print date: 10 June 2016
Published date: 20 June 2016
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© 2016 Elsevier Inc. All rights reserved.
Keywords:
Additional findings, Communication, Confidentiality, Consent, Familial implications, Genomic analysis, Incidental findings (IFs), Recontacting policy, Right to know/not to know, Targeted versus broad testing
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Local EPrints ID: 469598
URI: http://eprints.soton.ac.uk/id/eprint/469598
PURE UUID: 1819e1c5-93bb-4a47-99d2-1998e1e1c06b
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Date deposited: 21 Sep 2022 16:33
Last modified: 06 Jun 2024 01:40
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Author:
I. van Langen
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