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Showing papers by "Eric J. Topol published in 2013"


Journal ArticleDOI
11 Dec 2013-JAMA
TL;DR: In this Viewpoint, examples of how mHealth technologies can transform health care by addressing inefficient practices and challenges faced by consumers and clinicians in the current system are offered.
Abstract: There is substantial enthusiasm for the concept of mobile health (mHealth), a broad term typically used to describe the use of mobile telecommunication technologies for the delivery of health care and in support of wellness. In 2011, US Secretary of Health and Human Services Kathleen Sebelius referred to mHealth as “the biggest technology breakthrough of our time” and maintained that its use would “address our greatest national challenge.”1 This level of exuberance for mHealth is driven by the convergence of 3 powerful forces. First is the unsustainability of current health care spending and the recognition of the need for disruptive solutions. Second is the rapid and ongoing growth in wireless connectivity— there now are more than 3.2 billion unique mobile users worldwide—and the remarkable capability this brings for the bidirectional instantaneous transfer of information. Third is the need for more precise and individualized medicine; a refinement in phenotypes that mandates novel, personal data streams well beyond the occasional vital sign or laboratory data available through intermittent clinic visits. But there are multiple obstacles to the acceptance and widespread utilization of mHealth technologies. Foremost are the complexities of the health care system, especially the current drivers of reimbursement. In addition, clinicians are concerned about the possible further weakening of the patient-physician relationship and the possible increase in their workload. Also, and somewhat paradoxically, the unbridled enthusiasm of the mHealth technology development community, coupled with consumers’ appetite for alternative health and wellness resources, can create challenges to the appropriate use and validation of mHealth technologies. For example, there are tens of thousands (estimates vary between 30 000 to more than 90 000) health care– related apps available for download, in contrast to the US Food and Drug Administration estimate of the approximately 100 it has reviewed. This lack of oversight is worrisome and contributes to the increasingly high likelihood of useless and possibly even dangerous apps being downloaded by unsuspecting consumers.2 When such a high level of interest and promise coexists with such a paucity of evidence, there is potential for hype to dominate the discussion around mHealth. To move beyond that, in this Viewpoint we offer examples of how mHealth technologies can transform health care by addressing inefficient practices and challenges faced by consumers and clinicians in the current system.

415 citations


Journal ArticleDOI
TL;DR: Genomic testing was not associated with long term psychological risks, and most participants reportedly perceived the test to be of high personal utility, which was consistent with results of cross-sectional analyses.
Abstract: Background There are few empirical data to inform the debate surrounding the use and regulation of direct-to-consumer (DTC) genome-wide disease risk tests. This study aimed to determine the long term psychological, behavioural, and clinical impacts of genomic risk testing for common disease. Methods The Scripps Genomic Health Initiative is a prospective longitudinal cohort study of adults who purchased the Navigenics Health Compass, a commercially available genomic test. Web based assessments were administered at baseline, short (3 months), and long term (1 year) follow-up. Results 2240 participants completed either or both follow-ups and a subset of 1325 completed long term follow-up. There were no significant differences from baseline in anxiety (p=0.50), fat intake (p=0.34), or exercise (p=0.39) at long term follow-up, and 96.8% of the sample had no test related distress. Longitudinal linear mixed model analyses were consistent with results of cross-sectional analyses. Screening test completion was associated with sharing genomic test results with a physician (36.0% shared; p Conclusions Over a third of DTC genomic test recipients shared their results with their own physician during an approximate 1 year follow-up period, and this sharing was associated with higher screening test completion. Genomic testing was not associated with long term psychological risks, and most participants reportedly perceived the test to be of high personal utility.

128 citations


01 Jan 2013
TL;DR: Inpatient initiation of lipid-lowering therapy appears to be an effective strategy for bridging the gap between current medical knowledge and practice, with patients who start taking lipid- Lowering therapy before hospital discharge nearly 3 times as likely to be taking these agents 6 months later.

69 citations


Journal ArticleDOI
TL;DR: In CAPRIE, clopidogrel was beneficial to non‐PPI users while apparently harmful to PPI users, and in CREDO, the efficacy ofClopidOGrel was not significantly affected by PPI use.
Abstract: Background Proton pump inhibitors (PPIs) may interfere with the metabolic activation of clopidogrel via inhibition of cytochrome P450 2C19, but the clinical implications remain unclear. Methods and Results The impact of PPI use on the 1-year primary end point (ischemic stroke, myocardial infarction [MI], or vascular death) in the Clopidogrel versus Aspirin in Patients at Risk of Ischemic Events (CAPRIE) trial and the 28-day (all-cause death, MI, or urgent target vessel revascularization) and 1-year (all-cause death, MI, or stroke) primary end points in the Clopidogrel for Reduction of Events During Observation (CREDO) trial were examined. Clopidogrel appeared to elevate risk for the primary end point in CAPRIE among PPI users (estimated hazard ratio [EHR] 2.66, 95% CI 0.94 to 7.50) while lowering it for non-PPI users (EHR 0.90, 95% CI 0.83 to 0.99, interaction P =0.047). Moreover, PPI use was associated with worse outcomes in patients receiving clopidogrel (EHR 2.39, 95% CI 1.74 to 3.28) but not aspirin (EHR 1.04, 95% CI 0.70 to 1.57, interaction P =0.001). Clopidogrel did not significantly alter risk for the 1-year primary end point in CREDO among PPI users (EHR 0.82, 95% CI 0.48 to 1.40) while lowering it for non-PPI users (EHR 0.71, 95% CI 0.52 to 0.98, interaction P =0.682). Also, PPI use was associated with worse outcomes in both patients receiving clopidogrel (EHR 1.67, 95% CI 1.06 to 2.64) and those receiving placebo (EHR 1.56, 95% CI 1.06 to 2.30, interaction P =0.811). Conclusions In CREDO, the efficacy of clopidogrel was not significantly affected by PPI use. However, in CAPRIE, clopidogrel was beneficial to non-PPI users while apparently harmful to PPI users. Whether this negative interaction is clinically important for patients receiving clopidogrel without aspirin needs further study.

47 citations


Journal ArticleDOI
TL;DR: In this paper, the authors describe consumers' perceptions of genetic counseling services in the context of direct-to-consumer personal genomic testing and their perceptions of those interactions using data from the Scripps Genomic Health Initiative.
Abstract: To describe consumers' perceptions of genetic counseling services in the context of direct-to-consumer personal genomic testing is the purpose of this research. Utilizing data from the Scripps Genomic Health Initiative, we assessed direct-to-consumer genomic test consumers' utilization and perceptions of genetic counseling services. At long-term follow-up, approximately 14 months post-testing, participants were asked to respond to several items gauging their interactions, if any, with a Navigenics genetic counselor, and their perceptions of those interactions. Out of 1325 individuals who completed long-term follow-up, 187 (14.1%) indicated that they had spoken with a genetic counselor. The most commonly given reason for not utilizing the counseling service was a lack of need due to the perception of already understanding one's results (55.6%). The most common reasons for utilizing the service included wanting to take advantage of a free service (43.9%) and wanting more information on risk calculations (42.2%). Among those who utilized the service, a large fraction reported that counseling improved their understanding of their results (54.5%) and genetics in general (43.9%). A relatively small proportion of participants utilized genetic counseling after direct-to-consumer personal genomic testing. Among those individuals who did utilize the service, however, a large fraction perceived it to be informative, and thus presumably beneficial.

31 citations


Journal ArticleDOI
15 Jan 2013-Heart
TL;DR: Although an FBN-1 mutation does not guarantee the diagnosis of Marfan syndrome it is clear however that FBn-1 mutations independently confer additional risk for many of the cardiovascular complications classically associated with the disease.
Abstract: The dramatic reductions in DNA sequencing costs allow us to delve deeper into the genomic alterations that increase susceptibility to many polygenic cardiovascular diseases. One such condition is an abnormal proximal aorta. Until recently, many believed that dilated, distorted or dissected proximal aortas might represent a forme fruste of Marfan syndrome or a continuum of aortopathy. Although an FBN-1 mutation does not guarantee the diagnosis of Marfan syndrome it is clear however that FBN-1 mutations independently confer additional risk for many of the cardiovascular complications classically associated with the disease. Furthermore, treatment with an angiotensin receptor blocker has proven effective in reducing rates of thoracic aortic root dilatation in preliminary studies of Marfan syndrome patients. Awareness of an FBN-1 mutation then highlights the need for increased vigilance for the associated cardiovascular phenotypes. Knowledge of an FBN-1 gene mutation may allow actionable interventions earlier in the natural history of the condition.

20 citations


Journal ArticleDOI
25 May 2013-Gene
TL;DR: This study analyzed four additional SNPs near R952Q to identify a specific LRP8 SNP haplotype that is associated with familial and early-onset coronary artery disease (CAD) and myocardial infarction (MI) in American and Italian Caucasian populations to suggest that a common L RP8 haplotype TCCGC confers a significant protective effect on the development of familial, early-ONSet CAD and/or MI.

16 citations


Journal ArticleDOI
02 Jan 2013-JAMA
TL;DR: The relevant issues behind the incorporation of optimal tissue sampling techniques into routine pathologic practice are discussed and recommendations for the cancer genomic medicine of the future are made.
Abstract: GENOMICS IS POISED TO REVOLUTIONIZE CANCER TREATment. Whole genome sequencing is becoming more rapid, accurate, and affordable, and the ability to use genomic data to match biologically based therapy to an individual is becoming a reality. As the sequencing endeavor transitions from a heroic effort performed by a dedicated team for a particular patient to a routine component of most, if not all, cancer diagnoses, standards for acquiring appropriate tissue samples also must evolve. This is necessary because an individual’s native (germline) genome must be compared with the genome of the tumor. Deciding how best to obtain these samples and how best to process them for whole genome or exome sequencing is a pivotal yet unresolved issue with several layers of complexity. Pathologists currently optimize tumor sampling and processing to leverage standard diagnostic methods. However, as the new clinical applicability of genomics emerges at a fairly rapid rate, the field of pathology will arrive at the tipping point for a fundamental change in how cancer specimens are handled. In this Viewpoint, we discuss the relevant issues behind the incorporation of optimal tissue sampling techniques into routine pathologic practice and make recommendations for the cancer genomic medicine of the future.

14 citations


Journal ArticleDOI
TL;DR: Only when medical education mandates that students annotate whole-genome sequences will future physicians be capable of rendering routine genomic medicine.
Abstract: When William Harvey, the physician-anatomist known as the father of the circulatory system, dissected the bodies of his deceased father and sister in the early 17th century, it foreshadowed the future of medicine. Harvey found that his father’s colon and sister’s spleen were remarkably large,

5 citations


Journal ArticleDOI
TL;DR: A cost-effectiveness analysis of the costs and time scales involved in the discovery of pharmacogenomic variants, their validation, and their incorporation into future clinical guidelines is described.
Abstract: Pharmacogenomics is poised to radically alter the way drugs are designed, developed, and prescribed. Given that much of the variation in drug response can be attributed to genetic differences, tailoring drugs to an individual's unique genetic signature provides the opportunity to reduce adverse drug events, improve drug efficacy, optimize trial design, and prevent costly drug recalls (1). Developing pharmacogenomic strategies to address these issues is critical, given that lack of efficacy and adverse drug events cost the US well over $100 billion annually and that the overall cost for developing a single drug now exceeds $1 billion (2–4). Although genomewide association studies have identified, in general, common sequence variants with increased risks in susceptibility of only 10%–20%, the odds ratios for major side effects or drug responsiveness have been exceptionally large, such as 3- to 20-fold (an increase in risk of 300% to 2000%). This large difference is likely attributable to the fact that humans have been exposed, in evolutionary terms, to most drugs only for a relatively short period of time and that limited genetic selection pressures have been applied (4). Accordingly, exploiting the marked interaction of the genome with drug response represents an exceptional opportunity to enhance the precision and lower the costs of prescription medications. This opportunity has been enhanced by the plummeting cost of sequencing and the recent precedents of accelerated regulatory drug approvals for breakthrough medications developed with genomic guidance (5). Although pharmacogenomics offers the prospect of distinct improvements in drug development and utilization, it is appropriate to ask whether this approach will be cost-effective. In this issue of Clinical Chemistry , Arnaout et al. describe a cost-effectiveness analysis of the costs and time scales involved in the discovery of pharmacogenomic variants, their validation, and their incorporation into future clinical guidelines (3 …

2 citations


01 Jan 2013
TL;DR: In this article, the authors present a manual for the Sistema Cardiovascular (MSC) called Manual de Medicina Cardiovascular 4a Ed. - Libros deMedicina - Sistemas Cardiovascular - 61,75
Abstract: Manual de Medicina Cardiovascular 4a Ed. - Libros de Medicina - Sistema Cardiovascular - 61,75

Journal ArticleDOI
TL;DR: Comparison of gene expression levels in circulating endothelial cells between those experiencing an MI and healthy controls may determine the severity of the disease.


Journal ArticleDOI
TL;DR: Platelet reactivity was assessed in 5,427 patients of the Gauging Responsiveness With A VerifyNow P2Y12 Assay: Impact on Thrombosis and Safety (GRAVITAS) trial.