Personalized genomic information: preparing for the future of genetic medicine

Guttmacher, Alan E.; McGuire, Amy L.; Ponder, Bruce A.J.; Stefánsson, Kāri

doi:10.1038/nrg2735

Cited by 111 publications

(88 citation statements)

References 26 publications

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“…[53][54][55][56] However, analysis and interpretation of genome data are complex processes and give rise to a number of issues and challenges that have to be overcome. [57][58][59] Clinical implementation of NGS technologies will require standardization and integration of analysis pipelines and databases, and appropriate informatics support to facilitate medical decision making. These will require investment in information technology, informatics infrastructure, personnel, and training within health services, policy development regarding data sharing and privacy, and the establishment of a robust and centrally managed evidence base for clinical interpretation of genomic variants.…”

Section: Resultsmentioning

confidence: 99%

Informatics and clinical genome sequencing: opening the black box

Moorthie

Hall

Wright

2013

Genetics in Medicine

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Adoption of whole-genome sequencing as a routine biomedical tool is dependent not only on the availability of new high-throughput sequencing technologies, but also on the concomitant development of methods and tools for data collection, analysis, and interpretation. It would also be enormously facilitated by the development of decision support systems for clinicians and consideration of how such information can best be incorporated into care pathways. Here we present an overview of the data analysis and interpretation pipeline, the wider informatics needs, and some of the relevant ethical and legal issues. 2013:15(3):165-171 Genet Med

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Section: Resultsmentioning

confidence: 99%

Informatics and clinical genome sequencing: opening the black box

Moorthie

Hall

Wright

2013

Genetics in Medicine

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“…Aunado a lo anterior, es importante resaltar que los sujetos que solicitan una prueba genética cuyos resultados muestren que son susceptibles o portadores para desarrollar alguna patología específica, pueden ser objeto de discriminación o estigmatización (11,12,13) por parte de aseguradoras, escuelas, empresas, personal de salud e incluso la sociedad.…”

Section: En El Caso De Enfermedades Monogénicas Es Indispensable Brindarunclassified

Marketing Genetic Tests: A Bioethical Approach

Ochoa¹,

Alonso²,

Zúñiga³

2012

pers.bioét.

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“…In this regard, it may well be that adverse effect profiles may be a more tangible measure to advance pharmacogenetic investigations in schizophrenia. Personalized medicine, while not quite inculcated into current clinical care, is looming large as the next transformation of healthcare [73][74][75] . Synderman and Dinan [76] articulate a fundamental shift from a 'find it, fix it' model of care to a 'personalize it, predict it' model ( table 3 ).…”

Section: Methodological Considerations In Optimizing Pharmacogenetic mentioning

confidence: 99%

Pharmacogenetics of Schizophrenia: Bringing ‘Order to Chaos' in the Psychopharmacology of Schizophrenia?

Buckley

Miller

Foster

2010

Pharmacogenomics in Psychiatry

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The inherent wide interindividual variability in response and tolerability of side effects in the treatment of schizophrenia itself provides a compelling rationale for the great potential of pharmacogenetics. Moreover, this potential is consonant with the broader public health directive toward personalized medicine. Within schizophrenia, the progress thus far has been modest in both the treatment response and adverse effect domains. This chapter chronicles the progress made in the quest for pharmacogenetic predictors in the treatment of schizophrenia. Copyright © 2010 S. Karger AG, BaselBy any measure -and especially with regard to its treatment -schizophrenia is a highly heterogeneous disorder. A continued debate in our field that is of great relevance to the area of pharmacogenetics is whether schizophrenia is actually etiologically heterogeneous -that is a collection of several conditions that arise from different pathobiological bases -or whether schizophrenia is (merely) symptomatically heterogeneous [1] . Certainly, every clinician knows well that the presentation and course of illness varies widely between patients. Irrespective of whether you ascribe this heterogeneity to neurobiology or course alone, this variability in schizophrenia itself is the 'baseline condition' upon which pharmacogenetic examinations begin. This is an important consideration.Clinicians also know that there is wide variability in patients' response and tolerability of any given antipsychotic medication. The advent of second-generation antipsychotic medications (SGAs) alongside the first-generation antipsychotic medications (FGAs) has broadened the treatment options for patients. However, in large part the dilemma remains the same: at present, the selection of an antipsychotic is more on a 'trial and error' basis rather than based upon any robust rationale.

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Personalized genomic information: preparing for the future of genetic medicine

Cited by 111 publications

References 26 publications

Informatics and clinical genome sequencing: opening the black box

Informatics and clinical genome sequencing: opening the black box

Marketing Genetic Tests: A Bioethical Approach

Pharmacogenetics of Schizophrenia: Bringing ‘Order to Chaos' in the Psychopharmacology of Schizophrenia?

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