Implementing genomic medicine in the clinic: The future is here

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Genetics in medicine: official journal of the American College of Medical Genetics (Impact Factor: 7.33). 01/2013; 15(4). DOI: 10.1038/gim.2012.157
Source: PubMed


Although the potential for genomics to contribute to clinical care has long been anticipated, the pace of defining the risks and benefits of incorporating genomic findings into medical practice has been relatively slow. Several institutions have recently begun genomic medicine programs, encountering many of the same obstacles and developing the same solutions, often independently. Recognizing that successful early experiences can inform subsequent efforts, the National Human Genome Research Institute brought together a number of these groups to describe their ongoing projects and challenges, identify common infrastructure and research needs, and outline an implementation framework for investigating and introducing similar programs elsewhere. Chief among the challenges were limited evidence and consensus on which genomic variants were medically relevant; lack of reimbursement for genomically driven interventions; and burden to patients and clinicians of assaying, reporting, intervening, and following up genomic findings. Key infrastructure needs included an openly accessible knowledge base capturing sequence variants and their phenotypic associations and a framework for defining and cataloging clinically actionable variants. Multiple institutions are actively engaged in using genomic information in clinical care. Much of this work is being done in isolation and would benefit from more structured collaboration and sharing of best practices.
Genet Med 2013:15(4):258–267

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Available from: Marc S Williams, Mar 04, 2014
    • "The announcement of the projects such as the 100,000 genome project in England (Genomics England 2014), a transformative programme for the National Health Service is an additional impetus for the whole health service workforce to engage with genomics. As whole genome and whole exome sequencing (Box 2) is introduced into health care the landscape of genetic testing will drastically change (Manolio et al. 2013) because the information that is obtained from sequencing is much more complex than the results of traditional genetic testing. Where traditionally a test was undertaken to inform a single health outcome, genome sequencing can inform the diagnosis of, or susceptibility to, numerous diseases (Ashley et al. 2010). "
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    ABSTRACT: Aims and objectives: The aim of this discussion paper is to enable nurses to understand how deoxyribonucleic acid analysis can be predictive for some diseases and not predictive for others. This will facilitate nurses to interpret genomic test results and explain them to patients. Background: Advances in technology mean that genetic testing is now commonly performed by sequencing the majority of an individual's genome or exome. This results in a huge amount of data, some of which can be used to predict or diagnose disease. Design: This is a discussion paper. Methods: This paper emerged from multiple discussions between the three authors over many months, culminating in a writing workshop to prepare this text. Results: The results of DNA analysis can be used to diagnose or predict rare diseases that are caused by a mutation in a single gene. However, while there are a number of genetic factors that contribute to common diseases, the ability to predict whether an individual will develop that condition is limited by the overall heritability of the condition. Environmental factors (such as lifestyle) are likely to be more useful in predicting common disease than genomic testing. Genomic tests may be of use to inform management of diseases in specific situations. Conclusions: Genomic testing will be of use in diagnosing disorders due to single gene mutations, but the use of genomic testing to predict the chance of a patient being affected in the future by a common disease is unlikely to be a realistic option within a health service setting. Relevance to clinical practice: Nurses will increasingly be involved in the use of genomic tests in mainstream patient care. However, they need to understand and be able to explain to patients the practical applications of and limitations of such tests.
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    • "Although currently not in widespread use, clinical genomic sequencing can guide cancer therapy selection and monitoring [Garraway, 2013; McLeod, 2013; Van Allen et al., 2014] and is being applied in many other clinical situations [Bowdin et al., 2014; Dewey et al., 2014]. Despite predicted clinical utility, experts have identified factors that preclude its rapid clinical adoption, and limitations that should be addressed in the informed consent process [Burke et al., 2013; Evans and Khoury, 2013; Manolio et al., 2013; McLeod, 2013; Biesecker and Green, 2014; Dewey et al., 2014; Vrijenhoek et al., 2015]. To briefly summarize, technical limitations prevent the identification of all disease-associated variants, and the reliance on incomplete and error-prone variant databases prevents the unambiguous classification of many variants that are identified. "
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    ABSTRACT: Despite the increased utilization of genome and exome sequencing, little is known about the actual content and process of informed consent for sequencing. We addressed this by interviewing 29 genetic counselors and research coordinators experienced in obtaining informed consent for sequencing in research and clinical settings. Interviews focused on the process and content of informed consent; patients/participants' common questions, concerns and misperceptions; and challenges to obtaining informed consent. Content analysis of transcribed interviews revealed that the main challenges to obtaining consent related to the broad scope and uncertainty of results, and patient/participants' unrealistic expectations about the likely number and utility of results. Interviewees modified their approach to sessions according to contextual issues surrounding the indication for testing, type of patient, and timing of testing. With experience, most interviewees structured sessions to place less emphasis on standard elements in the consent form and technological aspects of sequencing. They instead focused on addressing misperceptions and helping patients/participants develop realistic expectations about the types and implications of possible results, including secondary findings. These findings suggest that informed consent sessions should focus on key issues that may be misunderstood by patients/participants. Future research should address the extent to which various stakeholders agree on key elements of informed consent. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.
    Full-text · Article · Jul 2015 · American Journal of Medical Genetics Part A
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    • "Things like family health history, symptoms, medications, pathology reports, and patient outcomes can be as important to an accurate diagnosis and treatment as the underlying genetic makeup [5]. As the power of a wider breadth of data is realized, the network that results from numerous institutions sharing data across a range of diseases will have large statistics to drive insight [6]. The data challenge will be different but no less complex. "

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