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      Evolving health care through personal genomics

      Nature Reviews Genetics

      Springer Nature

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          Abstract

          The advent of genomic technologies is changing health care systems, with genomic data increasingly being applied to guide individual patient care. In this Essay, Rehm discusses how genomics is becoming an essential part of clinical care and the existing challenges that must be surmounted to take full advantage of personal genomic information.

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          Most cited references 44

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          Is Open Access

          Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors: guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Pathology.

          To establish evidence-based recommendations for the molecular analysis of lung cancers that are that are required to guide EGFR- and ALK-directed therapies, addressing which patients and samples should be tested, and when and how testing should be performed. Three cochairs without conflicts of interest were selected, one from each of the 3 sponsoring professional societies: College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Pathology. Writing and advisory panels were constituted from additional experts from these societies. Three unbiased literature searches of electronic databases were performed to capture articles published published from January 2004 through February 2012, yielding 1533 articles whose abstracts were screened to identify 521 pertinent articles that were then reviewed in detail for their relevance to the recommendations. Evidence was formally graded for each recommendation. Initial recommendations were formulated by the cochairs and panel members at a public meeting. Each guideline section was assigned to at least 2 panelists. Drafts were circulated to the writing panel (version 1), advisory panel (version 2), and the public (version 3) before submission (version 4). The 37 guideline items address 14 subjects, including 15 recommendations (evidence grade A/B). The major recommendations are to use testing for EGFR mutations and ALK fusions to guide patient selection for therapy with an epidermal growth factor receptor (EGFR) or anaplastic lymphoma kinase (ALK) inhibitor, respectively, in all patients with advanced-stage adenocarcinoma, regardless of sex, race, smoking history, or other clinical risk factors, and to prioritize EGFR and ALK testing over other molecular predictive tests. As scientific discoveries and clinical practice outpace the completion of randomized clinical trials, evidence-based guidelines developed by expert practitioners are vital for communicating emerging clinical standards. Already, new treatments targeting genetic alterations in other, less common driver oncogenes are being evaluated in lung cancer, and testing for these may be addressed in future versions of these guidelines.
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            MHC-dependent mate preferences in humans.

            One substantial benefit of sexual reproduction could be that it allows animals (including humans) to react rapidly to a continuously changing environmental selection pressure such as coevolving parasites. This counteraction would be most efficient if the females were able to provide their progeny with certain allele combinations for loci which may be crucial in the parasite-host arms race, for example the MHC (major histocompatibility complex). Here we show that the MHC influences both body odours and body odour preferences in humans, and that the women's preferences depend on their hormonal status. Female and male students were typed for their HLA-A, -B and -DR. Each male student wore a T-shirt for two consecutive nights. The next day, each female student was asked to rate the odours of six T-shirts. They scored male body odours as more pleasant when they differed from the men in their MHC than when they were more similar. This difference in odour assessment was reversed when the women rating the odours were taking oral contraceptives. Furthermore, the odours of MHC-dissimilar men remind the test women more often of their own actual or former mates than do the odours of MHC-similar men. This suggests that the MHC or linked genes influence human mate choice today.
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              Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

              An accurate diagnosis is an integral component of patient care for children with rare genetic disease. Recent advances in sequencing, in particular whole‐exome sequencing (WES), are identifying the genetic basis of disease for 25–40% of patients. The diagnostic rate is probably influenced by when in the diagnostic process WES is used. The Finding Of Rare Disease GEnes (FORGE) Canada project was a nation‐wide effort to identify mutations for childhood‐onset disorders using WES. Most children enrolled in the FORGE project were toward the end of the diagnostic odyssey. The two primary outcomes of FORGE were novel gene discovery and the identification of mutations in genes known to cause disease. In the latter instance, WES identified mutations in known disease genes for 105 of 362 families studied (29%), thereby informing the impact of WES in the setting of the diagnostic odyssey. Our analysis of this dataset showed that these known disease genes were not identified prior to WES enrollment for two key reasons: genetic heterogeneity associated with a clinical diagnosis and atypical presentation of known, clinically recognized diseases. What is becoming increasingly clear is that WES will be paradigm altering for patients and families with rare genetic diseases.
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                Author and article information

                Journal
                Nature Reviews Genetics
                Nat Rev Genet
                Springer Nature
                1471-0056
                1471-0064
                January 31 2017
                January 31 2017
                :
                :
                Article
                10.1038/nrg.2016.162
                28138143
                © 2017
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