Status of clinical gene sequencing data reporting and associated risks for information loss

Mitchell, Douglas R.; Mitchell, Joyce A.

doi:10.1016/j.jbi.2006.02.012

Cited by 17 publications

(15 citation statements)

References 22 publications

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“…A common limitation is not only a lack of structured data that could be used for clinical decision support but also the focus on reporting of variants as opposed to all observations made. 24 …”

Section: Use and Limitations In The Clinical Settingmentioning

confidence: 99%

Practical challenges in integrating genomic data into the electronic health record

Kho

Rasmussen

Connolly

et al. 2013

Genetics in Medicine

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Genetic testing has had limited impact on routine clinical care. Widespread adoption of electronic health records presents a promising means of disseminating genetic testing into diverse care settings. Practical challenges to integration of genomic data into electronic health records include size and complexity of genetic test results, inadequate use of standards for clinical and genetic data, and limitations in electronic health record capacity to store and analyze genetic data. Related challenges include uncertainty in the interpretation of regulatory requirements for return of results, and privacy concerns specific to genetic testing. Successful integration of genomic data may require significant redesign of existing electronic health record systems.

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Section: Use and Limitations In The Clinical Settingmentioning

confidence: 99%

Practical challenges in integrating genomic data into the electronic health record

Kho

Rasmussen

Connolly

et al. 2013

Genetics in Medicine

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“…Discrete genetic data are important as a foundation for decision support, as a means of exchanging data between clinical organizations, whether reference labs and ordering physicians, or ultimately in the context of continuity of care across patient venues. Extension of these systems to manage DNA sequence results, both single gene and whole genome sequencing (WGS), is a likely progression of these efforts (Mitchell and Mitchell 2007).…”

Section: Discretely Stored Genetic Test Resultsmentioning

confidence: 99%

Electronic medical records and personalized medicine

Hoffman

Williams

2011

Hum Genet

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If the dream of personalized medicine is to be realized, tremendous amounts of data specific to each individual must be captured, synthesized and presented to clinicians at the time this information is needed to make care decisions for the patient. This can only be accomplished through the use of sophisticated electronic medical record (EMR) systems that are designed to support this function. This article will define two important aspects of a fully functional EMR the ability to: present patients or clinicians with high quality context specific information at the point of care (so-called "just-in time" education) and to combine clinically relevant information from disparate sources in order to guide the clinician to the optimized intervention for a given patient (clinical decision support). Personalized medicine examples are used to illustrate these concepts. As implemented most EMR systems are not being used to assimilate the information needed to provide personalized medicine. A description of necessary enhancements to currently available systems that will be needed to create a "personalized medicine enabled" EMR is provided.

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“…Additionally, genetic test development is not yet regulated by the Clinical Laboratory Improvement Amendments (CLIA) oversight process. There is tremendous variability in the degree of information and interpretation of results returned by different laboratories, making it challenging for a non-genetics specialist to interpret genetic test results accurately [24,25]. These issues can create significant ambiguity about result interpretation, and decisions regarding medical record access to these results should consider the clinical utility of the findings and the availability of clinical decision support systems to guide healthcare provider use of test findings.…”

Section: Discussionmentioning

confidence: 99%

Practical considerations to guide development of access controls and decision support for genetic information in electronic medical records

Darcy

Lewis²,

Ormond

et al. 2011

BMC Health Serv Res

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BackgroundGenetic testing is increasingly used as a tool throughout the health care system. In 2011 the number of clinically available genetic tests is approaching 2,000, and wide variation exists between these tests in their sensitivity, specificity, and clinical implications, as well as the potential for discrimination based on the results.DiscussionAs health care systems increasingly implement electronic medical record systems (EMRs) they must carefully consider how to use information from this wide spectrum of genetic tests, with whom to share information, and how to provide decision support for clinicians to properly interpret the information. Although some characteristics of genetic tests overlap with other medical test results, there are reasons to make genetic test results widely available to health care providers and counterbalancing reasons to restrict access to these test results to honor patient preferences, and avoid distracting or confusing clinicians with irrelevant but complex information. Electronic medical records can facilitate and provide reasonable restrictions on access to genetic test results and deliver education and decision support tools to guide appropriate interpretation and use.SummaryThis paper will serve to review some of the key characteristics of genetic tests as they relate to design of access control and decision support of genetic test information in the EMR, emphasizing the clear need for health information technology (HIT) to be part of optimal implementation of genetic medicine, and the importance of understanding key characteristics of genetic tests when designing HIT applications.

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Status of clinical gene sequencing data reporting and associated risks for information loss

Cited by 17 publications

References 22 publications

Practical challenges in integrating genomic data into the electronic health record

Practical challenges in integrating genomic data into the electronic health record

Electronic medical records and personalized medicine

Practical considerations to guide development of access controls and decision support for genetic information in electronic medical records

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