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Living laboratory: whole-genome sequencing as a learning healthcare enterprise.

Publication ,  Journal Article
Angrist, M; Jamal, L
Published in: Clinical genetics
April 2015

With the proliferation of affordable large-scale human genomic data come profound and vexing questions about management of such data and their clinical uncertainty. These issues challenge the view that genomic research on human beings can (or should) be fully segregated from clinical genomics, either conceptually or practically. Here, we argue that the sharp distinction between clinical care and research is especially problematic in the context of large-scale genomic sequencing of people with suspected genetic conditions. Core goals of both enterprises (e.g. understanding genotype-phenotype relationships; generating an evidence base for genomic medicine) are more likely to be realized at a population scale if both those ordering and those undergoing sequencing for diagnostic reasons are routinely and longitudinally studied. Rather than relying on expensive and lengthy randomized clinical trials and meta-analyses, we propose leveraging nascent clinical-research hybrid frameworks into a broader, more permanent instantiation of exploratory medical sequencing. Such an investment could enlighten stakeholders about the real-life challenges posed by whole-genome sequencing, such as establishing the clinical actionability of genetic variants, returning 'off-target' results to families, developing effective service delivery models and monitoring long-term outcomes.

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Published In

Clinical genetics

DOI

EISSN

1399-0004

ISSN

0009-9163

Publication Date

April 2015

Volume

87

Issue

4

Start / End Page

311 / 318

Related Subject Headings

  • Research Design
  • Information Dissemination
  • Humans
  • High-Throughput Nucleotide Sequencing
  • Genome, Human
  • Genetics, Medical
  • Genetics & Heredity
  • 3202 Clinical sciences
  • 3105 Genetics
  • 1103 Clinical Sciences
 

Citation

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Angrist, M., & Jamal, L. (2015). Living laboratory: whole-genome sequencing as a learning healthcare enterprise. Clinical Genetics, 87(4), 311–318. https://doi.org/10.1111/cge.12461
Angrist, M., and L. Jamal. “Living laboratory: whole-genome sequencing as a learning healthcare enterprise.Clinical Genetics 87, no. 4 (April 2015): 311–18. https://doi.org/10.1111/cge.12461.
Angrist M, Jamal L. Living laboratory: whole-genome sequencing as a learning healthcare enterprise. Clinical genetics. 2015 Apr;87(4):311–8.
Angrist, M., and L. Jamal. “Living laboratory: whole-genome sequencing as a learning healthcare enterprise.Clinical Genetics, vol. 87, no. 4, Apr. 2015, pp. 311–18. Epmc, doi:10.1111/cge.12461.
Angrist M, Jamal L. Living laboratory: whole-genome sequencing as a learning healthcare enterprise. Clinical genetics. 2015 Apr;87(4):311–318.
Journal cover image

Published In

Clinical genetics

DOI

EISSN

1399-0004

ISSN

0009-9163

Publication Date

April 2015

Volume

87

Issue

4

Start / End Page

311 / 318

Related Subject Headings

  • Research Design
  • Information Dissemination
  • Humans
  • High-Throughput Nucleotide Sequencing
  • Genome, Human
  • Genetics, Medical
  • Genetics & Heredity
  • 3202 Clinical sciences
  • 3105 Genetics
  • 1103 Clinical Sciences