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  • 1
    In: Expert Review of Precision Medicine and Drug Development, Informa UK Limited, Vol. 1, No. 4 ( 2016-07-03), p. 407-413
    Type of Medium: Online Resource
    ISSN: 2380-8993
    Language: English
    Publisher: Informa UK Limited
    Publication Date: 2016
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  • 2
    In: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Wiley, Vol. 168, No. 8 ( 2015-12), p. 697-705
    Abstract: Sleep is critical to health and functionality, and several studies have investigated the inherited component of insomnia and other sleep disorders using genome‐wide association studies (GWAS). However, genome‐wide studies focused on sleep duration are less common. Here, we used data from participants in the Coriell Personalized Medicine Collaborative (CPMC) (n = 4,401) to examine putative associations between self‐reported sleep duration, demographic and lifestyle variables, and genome‐wide single nucleotide polymorphism (SNP) data to better understand genetic contributions to variation in sleep duration. We employed stepwise ordered logistic regression to select our model and retained the following predictive variables: age, gender, weight, physical activity, physical activity at work, smoking status, alcohol consumption, ethnicity, and ancestry (as measured by principal components analysis) in our association testing. Several of our strongest candidate genes were previously identified in GWAS related to sleep duration ( TSHZ2, ABCC9, FBXO15 ) and narcolepsy ( NFATC2 , SALL4 ). In addition, we have identified novel candidate genes for involvement in sleep duration including SORCS1 and ELOVL2 . Our results demonstrate that the self‐reported data collected through the CPMC are robust, and our genome‐wide association analysis has identified novel candidate genes involved in sleep duration. More generally, this study contributes to a better understanding of the complexity of human sleep. © 2015 The Authors. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Published by Wiley Periodicals, Inc.
    Type of Medium: Online Resource
    ISSN: 1552-4841 , 1552-485X
    URL: Issue
    Language: English
    Publisher: Wiley
    Publication Date: 2015
    detail.hit.zdb_id: 2143866-3
    SSG: 12
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  • 3
    Online Resource
    Online Resource
    Wiley ; 2014
    In:  Journal of Genetic Counseling Vol. 23, No. 4 ( 2014-08), p. 578-587
    In: Journal of Genetic Counseling, Wiley, Vol. 23, No. 4 ( 2014-08), p. 578-587
    Abstract: Use of genomic information in healthcare is increasing; however data on the needs of consumers of genomic information is limited. The Coriell Personalized Medicine Collaborative (CPMC) is a longitudinal study investigating the utility of personalized medicine. Participants receive results reflecting risk of common complex conditions and drug—gene pairs deemed actionable by an external review board. To explore the needs of individuals receiving genomic information we reviewed all genetic counseling sessions with CPMC participants. A retrospective qualitative review of notes from 157 genetic counseling inquiries was conducted. Notes were coded for salient themes. Five primary themes; “understanding risk”, “basic genetics”, “complex disease genetics”, “what do I do now?” and “other” were identified. Further review revealed that participants had difficulty with basic genetic concepts, confused relative and absolute risks, and attributed too high a risk burden to individual single nucleotide polymorphisms (SNPs). Despite these hurdles, counseled participants recognized that behavior changes could potentially mitigate risk and there were few comments alluding to an overly deterministic or fatalistic interpretation of results. Participants appeared to recognize the multifactorial nature of the diseases for which results were provided; however education to understand the complexities of genomic risk information was often needed.
    Type of Medium: Online Resource
    ISSN: 1059-7700 , 1573-3599
    Language: English
    Publisher: Wiley
    Publication Date: 2014
    detail.hit.zdb_id: 2016899-8
    SSG: 12
    SSG: 5,2
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  • 4
    In: npj Genomic Medicine, Springer Science and Business Media LLC, Vol. 2, No. 1 ( 2017-01-19)
    Abstract: Following several years enrolling disease-specific and otherwise healthy cohorts into the Coriell Personalized Medicine Collaborative, a prospective study aimed at evaluating the clinical utility of personal genomic information for common complex disease and pharmacogenomics, the Coriell Personalized Medicine Collaborative expanded to create a military cohort, specifically, the United States Air Force. Initial recruitment focused on Air Force Medical Service personnel and later expanded to include all Active Duty Air Force members and beneficiaries. Now in its 6th year, the study has produced a wide variety of insights, including optimal study design for military-sponsored genomic research, and discussion on genetic information sharing between and amongst Air Force study participants, civilian and military researchers, and the United States Department of Defense. Over the longer term, analyses will further contribute to the development of policies and processes relevant to clinical decision support and data sharing within the US military, and on-going work with the Air Force Medical Service sub-cohort will generate critical insights into how best to deploy useful genomic information in clinical care. Here we discuss challenges faced and critical success factors for military-civilian collaborations around genomic research.
    Type of Medium: Online Resource
    ISSN: 2056-7944
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2017
    detail.hit.zdb_id: 2813848-X
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  • 5
    In: Journal of Genetic Counseling, Wiley, Vol. 25, No. 2 ( 2016-04), p. 385-394
    Abstract: Genetic literacy is essential for the effective integration of genomic information into healthcare; yet few recent studies have been conducted to assess the current state of this knowledge base. Participants in the Coriell Personalized Medicine Collaborative (CPMC), a prospective study assessing the impact of personalized genetic risk reports for complex diseases and drug response on behavior and health outcomes, completed genetic knowledge questionnaires and other surveys through an online portal. To assess the association between genetic knowledge and genetic education background, multivariate linear regression was performed. 4 062 participants completed a genetic knowledge and genetic education background questionnaire. Most were older (mean age: 50), Caucasian (90 %), female (59 %), highly educated (69 % bachelor's or higher), with annual household income over $100 000 (49 %). Mean percent correct was 76 %. Controlling for demographics revealed that health care providers, participants previously exposed to genetics, and participants with ‘better than most’ self‐rated knowledge were significantly more likely to have a higher knowledge score ( p   〈  0.001). Overall, genetic knowledge was high with previous genetic education experience predictive of higher genetic knowledge score. Education is likely to improve genetic literacy, an important component to expanded use of genomics in personalized medicine.
    Type of Medium: Online Resource
    ISSN: 1059-7700 , 1573-3599
    Language: English
    Publisher: Wiley
    Publication Date: 2016
    detail.hit.zdb_id: 2016899-8
    SSG: 12
    SSG: 5,2
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  • 6
    In: Journal of Genetic Counseling, Wiley, Vol. 26, No. 5 ( 2017-10), p. 980-998
    Abstract: There has been very limited study of patients with chronic disease receiving potentially actionable genomic based results or the utilization of genetic counselors in the online result delivery process. We conducted a randomized controlled trial on 199 patients with chronic disease each receiving eight personalized and actionable complex disease reports online. Primary study aims were to assess the impact of in‐person genomic counseling on 1) causal attribution of disease risk, 2) personal awareness of disease risk, and 3) perceived risk of developing a particular disease. Of 98 intervention arm participants (mean age = 57.8; 39% female) randomized for in‐person genomic counseling, 76 (78%) were seen. In contrast, control arm participants ( n = 101; mean age = 58.5; 54% female) were initially not offered genomic counseling as part of the study protocol but were able to access in‐person genomic counseling, if they requested it, 3‐months post viewing of at least one test report and post‐completion of the study‐specific follow‐up survey. A total of 64 intervention arm and 59 control arm participants completed follow‐up survey measures. We found that participants receiving in‐person genomic counseling had enhanced objective understanding of the genetic variant risk contribution for multiple complex diseases. Genomic counseling was associated with lowered participant causal beliefs in genetic influence across all eight diseases, compared to control participants. Our findings also illustrate that for the majority of diseases under study, intervention arm participants believed they knew their genetic risk status better than control arm subjects. Disease risk was modified for the majority during genomic counseling, due to the assessment of more comprehensive family history. In conclusion, for patients receiving personalized and actionable genomic results through a web portal, genomic counseling enhanced their objective understanding of the genetic variant risk contribution to multiple common diseases. These results support the development of additional genomic counseling interventions to ensure a high level of patient comprehension and improve patient‐centered health outcomes.
    Type of Medium: Online Resource
    ISSN: 1059-7700 , 1573-3599
    Language: English
    Publisher: Wiley
    Publication Date: 2017
    detail.hit.zdb_id: 2016899-8
    SSG: 12
    SSG: 5,2
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  • 7
    In: Journal of Genetic Counseling, Wiley, Vol. 27, No. 5 ( 2018-10), p. 1111-1129
    Abstract: With the advent of widespread genomic testing for diagnostic indications and disease risk assessment, there is increased need to optimize genetic counseling services to support the scalable delivery of precision medicine. Here, we describe how we operationalized the reciprocal engagement model of genetic counseling practice to develop a framework of counseling components and strategies for the delivery of genomic results. This framework was constructed based upon qualitative research with patients receiving genomic counseling following online receipt of potentially actionable complex disease and pharmacogenomics reports. Consultation with a transdisciplinary group of investigators, including practicing genetic counselors, was sought to ensure broad scope and applicability of these strategies for use with any large‐scale genomic testing effort. We preserve the provision of pre‐test education and informed consent as established in Mendelian/single‐gene disease genetic counseling practice. Following receipt of genomic results, patients are afforded the opportunity to tailor the counseling agenda by selecting the specific test results they wish to discuss, specifying questions for discussion, and indicating their preference for counseling modality. The genetic counselor uses these patient preferences to set the genomic counseling session and to personalize result communication and risk reduction recommendations. Tailored visual aids and result summary reports divide areas of risk (genetic variant, family history, lifestyle) for each disease to facilitate discussion of multiple disease risks. Post‐counseling, session summary reports are actively routed to both the patient and their physician team to encourage review and follow‐up. Given the breadth of genomic information potentially resulting from genomic testing, this framework is put forth as a starting point to meet the need for scalable genetic counseling services in the delivery of precision medicine.
    Type of Medium: Online Resource
    ISSN: 1059-7700 , 1573-3599
    Language: English
    Publisher: Wiley
    Publication Date: 2018
    detail.hit.zdb_id: 2016899-8
    SSG: 12
    SSG: 5,2
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