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Showing papers by "Eric J. Topol published in 2015"


Journal ArticleDOI
TL;DR: W sweeping efforts are under way to establish the true capabilities and value of the evolving mHealth field, which can transform the mode and quality of clinical research and health care on a global scale.
Abstract: The surge in computing power and mobile connectivity have fashioned a foundation for mobile health (mHealth) technologies that can transform the mode and quality of clinical research and health care on a global scale. Unimpeded by geographical boundaries, smartphone-linked wearable sensors, point-of-need diagnostic devices, and medical-grade imaging, all built around real-time data streams and supported by automated clinical decision–support tools, will enable care and enhance our understanding of physiological variability. However, the path to mHealth incorporation into clinical care is fraught with challenges. We currently lack high-quality evidence that supports the adoption of many new technologies and have financial, regulatory, and security hurdles to overcome. Fortunately, sweeping efforts are under way to establish the true capabilities and value of the evolving mHealth field.

552 citations


Journal ArticleDOI
27 Jan 2015-JAMA
TL;DR: Until now, most of the effect of the digital era in the practice of medicine has been confined to electronic health records, but that is about to undergo a radical transformation in the next 5 years.
Abstract: Until now, most of the effect of the digital era in the practice of medicine has been confined to electronic health records. But that is about to undergo a radical transformation in the next 5 years.

127 citations


Journal ArticleDOI
TL;DR: For the benefits of digital medicine to be fully realized, the authors need not only to find a shared home for personal health data but also to give individuals the right to own them.
Abstract: For the benefits of digital medicine to be fully realized, we need not only to find a shared home for personal health data but also to give individuals the right to own them.

123 citations


Journal ArticleDOI
TL;DR: By delineating the genomic factors that are protective against disease, there is potential to derive highly effective, genomically anchored medicines that assist in maintaining health.
Abstract: Many disease-associated genetic variants have been identified, but how genetic variation contributes to protection from disease is less well understood. In this Review, the authors discuss the identification and characterization of protective alleles and modifier variants, and the potential implications of these findings for disease prevention and drug development.

104 citations


Journal ArticleDOI
TL;DR: It is concluded that the great majority of causal variations affecting CAD risk occur in noncoding regions, with 41% affecting gene expression robustly versus 6% leading to amino acid changes.
Abstract: Objective—Genome-wide association studies have to date identified 159 significant and suggestive loci for coronary artery disease (CAD). We now report comprehensive bioinformatics analyses of sequence variation in these loci to predict candidate causal genes. Approach and Results—All annotated genes in the loci were evaluated with respect to protein-coding single-nucleotide polymorphism and gene expression parameters. The latter included expression quantitative trait loci, tissue specificity, and miRNA binding. High priority candidate genes were further identified based on literature searches and our experimental data. We conclude that the great majority of causal variations affecting CAD risk occur in noncoding regions, with 41% affecting gene expression robustly versus 6% leading to amino acid changes. Many of these genes differed from the traditionally annotated genes, which was usually based on proximity to the lead single-nucleotide polymorphism. Indeed, we obtained evidence that genetic variants at ...

92 citations


Journal ArticleDOI
TL;DR: Although seemingly counterintuitive, the digitization of health care can also markedly improve the physician-patient relationship, allowing more time for human interaction when care is bolstered by digital technologies that better individualize diagnostics and treatments.

53 citations


Journal ArticleDOI
12 May 2015-JAMA
TL;DR: In recent years, physicians have been saddled with added regulatory burden after burden, compelled by numerous regulatory authorities, such as the Centers for Medicare & Medicaid Services, The Joint Commission, and state authorities.
Abstract: Formany physicians, the recent controversy surrounding maintenance of certification (MOC) has been a sentinel event, especially with respect to self-regulation and governance. In recent years, physicians have been saddled with added regulatory burden after burden, compelled by numerous regulatory authorities, such as the Centers for Medicare & Medicaid Services, The Joint Commission, and state authorities. These new requirements have substantially increased the administrative obligations of physicians; however, many of these obligations are unrelated to patient care, teaching, or research.

47 citations


Journal ArticleDOI
TL;DR: The first study to investigate neurological and cardiovascular responses during meditation in both novice and experienced meditators using novel, wearable, wireless devices supports the need for further investigation of the short- and long-term cardiovascular effects of mental calm and individualized ways to achieve it.
Abstract: Background: A number of benefits have been described for the long-term practice of meditation, yet little is known regarding the immediate neurological and cardiovascular responses to meditation. Wireless sensor technology allows, for the first time, multi-parameter and quantitative monitoring of an individual’s responses during meditation. The present study examined inter-individual variations to meditation through continuous monitoring of EEG, blood pressure, heart rate and its variability (HRV) in novice and experienced meditators. Methods: Participants were 20 experienced and 20 novice meditators involved in a week-long wellness retreat. Monitoring took place during meditation sessions on the first and last full days of the retreat. All participants wore a patch that continuously streamed ECG data, while half of them also wore a wireless EEG headset plus a non-invasive continuous blood pressure monitor. Results: Meditation produced variable but characteristic EEG changes, significantly different from baseline, even among novice meditators on the first day. In addition, although participants were predominately normotensive, the mean arterial blood pressure fell a small (2-3 mmHg) but significant (p<0.0001) amount during meditation. The effect of meditation on HRV was less clear and influenced by calculation technique and respiration. No clear relationship between EEG changes, HRV alterations or mean blood pressure during meditation was found. Conclusion: This is the first study to investigate neurological and cardiovascular responses during meditation in both novice and experienced meditators using novel, wearable, wireless devices. Meditation produced varied inter-individual physiologic responses. These results support the need for further investigation of the short- and long-term cardiovascular effects of mental calm and individualized ways to achieve it.

43 citations


Journal ArticleDOI
TL;DR: This policy, known as the “Ingelfinger rule”, has had a major role in determining the ethos of publication in clinical research, and was revisited at least three times.

43 citations


Journal ArticleDOI
TL;DR: Consumers and health professionals differ significantly and broadly in their views of emerging medical technology, with more enthusiasm and support expressed by consumers.
Abstract: Background: As a result of the digital revolution coming to medicine, a number of new tools are becoming available and are starting to be introduced in clinical practice. Objective: We aim to assess health care professional and consumer attitudes toward new medical technology including smartphones, genetic testing, privacy, and patient-accessible electronic health records. Methods: We performed a survey with 1406 health care providers and 1102 consumer responders. Results: Consumers who completed the survey were more likely to prefer new technologies for a medical diagnosis (437/1102, 39.66%) compared with providers (194/1406, 13.80%; P <.001), with more providers (393/1406, 27.95%) than consumers (175/1102, 15.88%) reporting feeling uneasy about using technology for a diagnosis. Both providers and consumers supported genetic testing for various purposes, with providers (1234/1406, 87.77%) being significantly more likely than consumers (806/1102, 73.14%) to support genetic testing when planning to have a baby ( P <.001). Similarly, 91.68% (1289/1406) of providers and 81.22% (895/1102) of consumers supported diagnosing problems in a fetus ( P <.001). Among providers, 90.33% (1270/1406) were concerned that patients would experience anxiety after accessing health records, and 81.95% (1149/1406) felt it would lead to requests for unnecessary medical evaluations, but only 34.30% (378/1102; P <.001) and 24.59% (271/1102; P <.001) of consumers expressed the same concerns, respectively. Physicians (137/827, 16.6%) reported less concern about the use of technology for diagnosis compared to medical students (21/235, 8.9%; P =.03) and also more frequently felt that patients owned their medical record (323/827, 39.1%; and 30/235, 12.8%, respectively; P <.001). Conclusions: Consumers and health professionals differ significantly and broadly in their views of emerging medical technology, with more enthusiasm and support expressed by consumers. [J Med Internet Res 2015;17(9):e215]

41 citations


Journal ArticleDOI
TL;DR: Individual differences in disease perceptions influence psychological outcomes following DTC genomic testing and higher perceived seriousness may make a consumer more psychologically sensitive to test results and greater perceived control may protect against adverse psychological outcomes.
Abstract: Individuals who undergo multiplex direct-to-consumer (DTC) genomic testing receive genetic risk results for multiple conditions. To date, research has not investigated the influence of individual differences in disease perceptions among consumers on testing outcomes. A total of 2037 participants received DTC genomic testing and completed baseline and follow-up surveys assessing disease perceptions and health behaviors. Participants were asked to indicate their most feared disease of those tested. Perceived seriousness and controllability of the disease via lifestyle or medical intervention were assessed. Participants most frequently reported heart attack (19.1%) and Alzheimer's disease (18.6%) as their most feared disease. Perceived seriousness and control over the feared disease both influenced response to DTC genomic testing. Greater perceived seriousness and diminished perceived control were associated with higher, but not clinically significant levels of anxiety and distress. In some cases these associations were modified by genetic risk. No significant associations were observed for diet, exercise and screening behaviors. Individual differences in disease perceptions influence psychological outcomes following DTC genomic testing. Higher perceived seriousness may make a consumer more psychologically sensitive to test results and greater perceived control may protect against adverse psychological outcomes. Findings may inform development of educational and counseling services.

Journal ArticleDOI
TL;DR: The objective of this study was to evaluate the safety of brief disclosure protocols for disclosing APOE genotype for the risk of AD in cognitively normal individuals.
Abstract: Introduction Conventional multisession genetic counseling is currently recommended when disclosing apolipoprotein E ( APOE ) genotype for the risk of Alzheimer's disease (AD) in cognitively normal individuals. The objective of this study was to evaluate the safety of brief disclosure protocols for disclosing APOE genotype for the risk of AD. Methods A randomized, multicenter noninferiority trial was conducted at four sites. Participants were asymptomatic adults having a first-degree relative with AD. A standard disclosure protocol by genetic counselors (SP-GC) was compared with condensed protocols, with disclosures by genetic counselors (CP-GC) and by physicians (CP-MD). Preplanned co-primary outcomes were anxiety and depression scales 12 months after disclosure. Results Three hundred and forty-three adults (mean age 58.3, range 33–86 years, 71% female, 23% African American) were randomly assigned to the SP-GC protocol (n = 115), CP-GC protocol (n = 116), or CP-MD protocol (n = 112). Mean postdisclosure scores on all outcomes were well below cut-offs for clinical concern across protocols. Comparing CP-GC with SP-GC, the 97.5% upper confidence limits at 12 months after disclosure on co-primary outcomes of anxiety and depression ranged from a difference of 1.2 to 2.0 in means (all P Conclusions These data support the safety of condensed protocols for APOE disclosure for those free of severe anxiety or depression who are actively seeking such information.

Journal ArticleDOI
TL;DR: Genome sequencing provides tangible clinical benefit for individuals with idiopathic genetic disease, not only in the context of molecular genetic diagnosis of known rare conditions but also in cases where prior clinical information regarding a new genetic disorder is lacking.

Journal ArticleDOI
Eric J. Topol1
TL;DR: An international open medical resource to provide a database for every individual's genomic, metabolomic, microbiome, microbiomic, epigenomic and clinical information is needed in order to facilitate genetic diagnoses and transform medical care.
Abstract: I call for an international open medical resource to provide a database for every individual's genomic, metabolomic, microbiomic, epigenomic and clinical information. This resource is needed in order to facilitate genetic diagnoses and transform medical care.

Journal ArticleDOI
TL;DR: In this Q&A, a group of inventors, entrepreneurs, and cutting-edge scientists share their views on sustaining and disruptive innovation in laboratory medicine.
Abstract: Over the last 5 decades, laboratory medicine has witnessed a remarkable wave of innovations that transformed the field from a peripheral to a central player in healthcare delivery. These advances enabled the introduction and performance of new tests on a large scale, some in a decentralized setting, in an accurate and a precise manner, thus leading to better diagnosis, more accurate prediction of disease prognosis, and improved patient management. This evolution was the result of both sustaining and disruptive innovation, the latter being a new concept, technology, product, or process that is at first inferior to an existing one but with time it improves, becomes superior to it, and eventually replaces it. Some examples of disruptive innovation in laboratory medicine include continuous flow analysis, dry reagents on dipsticks, pregnancy home testing, PCR, point-of-care testing, and use of MALDI-TOF mass spectrometry for pathogen identification. Although sustaining innovation steadily drives progress, paradigm shifts usually occur only with disruptive thinking. With the escalating cost of healthcare and the prediction that it will soon reach 20% of the annual GDP in the US, bold measures and disruptive approaches in delivering effective and economical clinical laboratory testing are more needed than ever. In this Q&A, a group of inventors, entrepreneurs, and cutting-edge scientists share their views on sustaining and disruptive innovation in laboratory medicine. Describe briefly the core technology or concept of your innovation. Eric Topol: Smartphones as the hub of medicine going forward, capable of performing routine laboratories (with suitable hardware additions), real-time, real-world biosensor data of most physiologic metrics, capability of doing a substantial part of the physical examination, and ultimately, assembly of a virtual medical assistant to process these multilayered medical data for each individual. All of this data collection and analytics would be supported by cloud computing and validated algorithms. Image Courtesy of XPRIZE Eugene …

Posted ContentDOI
28 Oct 2015-bioRxiv
TL;DR: There was little evidence of differences in health care costs or utilization as a result of the intervention, and evidence was found that the control and intervention groups were equivalent with respect to most health care utilization outcomes.
Abstract: Background. Mobile health and digital medicine technologies are becoming increasingly used by individuals with common, chronic diseases to monitor their health. Numerous devices, sensors, and apps are available to patients and consumers -- some of which have been shown to lead to improved health management and health outcomes. However, no randomized controlled trials have been conducted which examine health care costs, and most have failed to provide study participants with a truly comprehensive monitoring system. Methods. We conducted a prospective randomized controlled trial of adults who had submitted a 2012 health insurance claim associated with hypertension, diabetes, and/or cardiac arrhythmia. The intervention involved receipt of one or more mobile devices that corresponded to their condition(s) and an iPhone with linked tracking applications for a period of 6 months; the control group received a standard disease management program. Moreover, intervention study participants received access to an online health management system which provided participants detailed device tracking information over the course of the study. This was a monitoring system designed by leveraging collaborations with device manufacturers, a connected health leader, health care provider, and employee wellness program -- making it both unique and inclusive. We hypothesized that health resource utilization with respect to health insurance claims may be influenced by the monitoring intervention. We also examined health-self management. Results & Conclusions. There was little evidence of differences in health care costs or utilization as a result of the intervention. Furthermore, we found evidence that the control and intervention groups were equivalent with respect to most health care utilization outcomes. This result suggests there are not large short-term increases or decreases in health care costs or utilization associated with monitoring chronic health conditions using mobile health or digital medicine technologies. Among secondary outcomes there was some evidence of improvement in health self-management which was characterized by a decrease in the propensity to view health status as due to chance factors in the intervention group.

Patent
Eric J. Topol1, Evan D. Muse1, Connelly Mark C1, Timothy Jatkoe1, Haiying Wang1 
15 May 2015
TL;DR: In this paper, compositions, systems and methods for the diagnosing the risk of acute myocardial infarction are provided, which relate to the use of biomarkers such as gene expression profiles, and analytical tools for providing information to a health care provider or the patient, that is relevant to the cardiovascular health of the patient.
Abstract: Compositions, systems and methods for the diagnosing the risk of acute myocardial infarction are provided. The methods described herein relate to the use of biomarkers, such as gene expression profiles, and analytical tools for providing information to a health care provider or the patient, that is relevant to the cardiovascular health of the patient.