Showing papers by "Muin J. Khoury published in 2016"

Reproducible Research Practices and Transparency across the Biomedical Literature

Abstract: There is a growing movement to encourage reproducibility and transparency practices in the scientific community, including public access to raw data and protocols, the conduct of replication studies, systematic integration of evidence in systematic reviews, and the documentation of funding and potential conflicts of interest. In this survey, we assessed the current status of reproducibility and transparency addressing these indicators in a random sample of 441 biomedical journal articles published in 2000-2014. Only one study provided a full protocol and none made all raw data directly available. Replication studies were rare (n = 4), and only 16 studies had their data included in a subsequent systematic review or meta-analysis. The majority of studies did not mention anything about funding or conflicts of interest. The percentage of articles with no statement of conflict decreased substantially between 2000 and 2014 (94.4% in 2000 to 34.6% in 2014); the percentage of articles reporting statements of conflicts (0% in 2000, 15.4% in 2014) or no conflicts (5.6% in 2000, 50.0% in 2014) increased. Articles published in journals in the clinical medicine category versus other fields were almost twice as likely to not include any information on funding and to have private funding. This study provides baseline data to compare future progress in improving these indicators in the scientific literature.

Will Precision Medicine Improve Population Health

Abstract: Announcement of the precision medicine initiative has led to a variety of responses, ranging from enthusiastic expectations1 to explicit skepticism,2 about potential health benefits, limitations, and return on investment. This Viewpoint discusses whether precision medicine is unlikely or likely to improve population health, aiming to forge a consensus that bridges disparate perspectives on the issue. The potential of precision medicine to improve the health of individuals or small groups of individuals is not addressed here because it involves a different question with different metrics.

Population-Based Precision Cancer Screening: A Symposium on Evidence, Epidemiology, and Next Steps

Abstract: Precision medicine, an emerging approach for disease treatment that takes into account individual variability in genes, environment, and lifestyle, is under consideration for preventive interventions, including cancer screening. On September 29, 2015, the National Cancer Institute sponsored a symposium entitled "Precision Cancer Screening in the General Population: Evidence, Epidemiology, and Next Steps". The goal was two-fold: to share current information on the evidence, practices, and challenges surrounding precision screening for breast, cervical, colorectal, lung, and prostate cancers, and to allow for in-depth discussion among experts in relevant fields regarding how epidemiology and other population sciences can be used to generate evidence to inform precision screening strategies. Attendees concluded that the strength of evidence for efficacy and effectiveness of precision strategies varies by cancer site, that no one research strategy or methodology would be able or appropriate to address the many knowledge gaps in precision screening, and that issues surrounding implementation must be researched as well. Additional discussion needs to occur to identify the high priority research areas in precision cancer screening for pertinent organs and to gather the necessary evidence to determine whether further implementation of precision cancer screening strategies in the general population would be feasible and beneficial.

From genomic medicine to precision medicine: highlights of 2015.

Abstract: 2015 has been an exciting year for genomic medicine. We asked our Section Editors to discuss the breakthroughs in their fields of expertise, and what these might mean for the future. As in previous years, exome and whole-genome sequencing are leading the way in our understanding of disease mechanisms, their diagnosis and treatment, while information about the protein products of the genome has also grown, driven by novel technological advances. Precision medicine is now taking off as an important topic in the public health sphere and in education, and no discussion of 2015 would be complete without a mention of the huge advances in gene editing technologies, the implications of which have dominated ethics and policy debate.

CDC Grand Rounds: Family History and Genomics as Tools for Cancer Prevention and Control

Abstract: Although many efforts in cancer prevention and control have routinely focused on behavioral risk factors, such as tobacco use, or on the early detection of cancer, such as colorectal cancer screening, advances in genetic testing have created new opportunities for cancer prevention through evaluation of family history and identification of cancer-causing inherited mutations. Through the collection and evaluation of a family cancer history by a trained health care provider, patients and families at increased risk for a hereditary cancer syndrome can be identified, referred for genetic counseling and testing, and make informed decisions about options for cancer risk reduction (1). Although hereditary cancers make up a small proportion of all cancers, the number of affected persons can be large, and the level of risk among affected persons is high. Two hereditary cancer syndromes for which public health professionals have worked to reduce the burden of morbidity and mortality are hereditary breast and ovarian cancer syndrome (HBOC) and Lynch syndrome.

The Cancer Epidemiology Descriptive Cohort Database: A Tool to Support Population-Based Interdisciplinary Research.

Abstract: Background: We report on the establishment of a web-based Cancer Epidemiology Descriptive Cohort Database (CEDCD). The CEDCD's goals are to: enhance awareness of resources, facilitate interdisciplinary research collaborations, and support existing cohorts for the study of cancer-related outcomes. Methods: Comprehensive descriptive data were collected from large cohorts established to study cancer as primary outcome, using a newly developed questionnaire. These included an inventory of baseline and follow-up data, biospecimens, genomics, policies and protocols. Additional descriptive data extracted from publicly available sources were also collected. This information was entered in a querable and publicly accessible database. We summarized the descriptive data across cohorts and reported the characteristics of this resource. Results: As of December 2015, the CEDCD includes data from 46 cohorts representing more than 6.5 million individuals (29% ethnic/racial minorities). Overall, 78% of the cohorts have collected blood at least once, 57% at multiple time points, and 46% collected tissue samples. Genotyping has been performed by 67% of the cohorts, while 46% have performed whole genome or exome sequencing in subsets of enrolled individuals. Information on medical conditions other than cancer have been collected in over 50% of the cohorts. More than 600,000 incident cancer cases and over 40,000 prevalent cases are reported, with 24 cancer sites represented. Conclusions: The CEDCD assembles detailed descriptive information on a large number of cancer cohorts in a searchable database. Impact: Information from the CEDCD may assist the interdisciplinary research community by facilitating identification of well-established population resources and large-scale collaborative and integrative research.