Introduction to the Special Issue: Genome-Wide Association Studies

Introduction to the Special Issue: Genome-Wide Association StudiesComment: Published in at http://dx.doi.org/10.1214/09-STS310 the Statistical Science (http://www.imstat.org/sts/) by the Institute of Mathematical Statistics (http://www.imstat.org

Bayesian approaches to technology assessment and decision making

Until the mid-1980s, most economic analyses of healthcare technologies were based on decision theory and used decision-analytic models. The goal was to synthesize all relevant clinical and economic evidence for the purpose of assisting decision makers to efficiently allocate society's scarce resources. This was true of virtually all the early cost-effectiveness evaluations sponsored and/or published by the U.S. Congressional Office of Technology Assessment (OTA) (15), Centers of Disease Control and Prevention (CDC), the National Cancer Institute, other elements of the U.S. Public Health Service, and of healthcare technology assessors in Europe and elsewhere around the world. Methodologists routinely espoused, or at minimum assumed, that these economic analyses were based on decision theory (8;24;25). Since decision theory is rooted in—in fact, an informal application of—Bayesian statistical theory, these analysts were conducting studies to assist healthcare decision making by appealing to a Bayesian rather than a classical, or frequentist, inference approach. But their efforts were not so labeled. Oddly, the statistical training of these decision analysts was invariably classical, not Bayesian. Many were not—and still are not—conversant with Bayesian statistical approaches

Sequential stopping for high-throughput experiments

In high-throughput experiments, the sample size is typically chosen informally. Most formal sample-size calculations depend critically on prior knowledge. We propose a sequential strategy that, by updating knowledge when new data are available, depends less critically on prior assumptions. Experiments are stopped or continued based on the potential benefits in obtaining additional data. The underlying decision-theoretic framework guarantees the design to proceed in a coherent fashion. We propose intuitively appealing, easy-to-implement utility functions. As in most sequential design problems, an exact solution is prohibitive. We propose a simulation-based approximation that uses decision boundaries. We apply the method to RNA-seq, microarray, and reverse-phase protein array studies and show its potential advantages. The approach has been added to the Bioconductor package gaga

Mountain West Clinical Translational Research-Infrastructure Network: Introduction

The Mountain West (MW) Clinical Translational Research Infrastructure Network (CTR- IN) Program represents a consortium of all of the 13 major public universities across seven Institutional Development Awards (IDeA) states with the overall goal of increasing and enhancing research capacity. The MW CTR-IN Program covers 1/3rd the U.S. land mass and almost 1/3rd of all IDeA states stretching across 4 time zones. The 13 major U.S. public partner universities in the 7 IDeA states are as follows: University of Alaska at Anchorage (UAA), University of Alaska at Fairbanks (UAF), University of Montana (UM), Montana State University (MSU), University of Idaho (UI), Boise State University (BSU), University of Idaho State (UIS), University of Wyoming (UW), University of Nevada, Las Vegas (UNLV), University of Nevada Reno (UNR), New Mexico State University (NMSU), University of New Mexico (UNM) - Health Science Center (HSC), and the University of Hawaii at Manoa (UHM). The initial five-year grant was awarded to UNLV in 2013 by the National Institutes of Health (NIH) and has been recently renewed in August 2018 to continue until June 2023. [Funded by National Institute of General Medical Services (NIGMS) – U54GM104944-02] Over the years, the MW CTR-IN Program has supported, stimulated and facilitated collaborations to foster and enhance clinical research from many diverse disciplines. The MW CTR-IN Program has stimulated research in a spectrum of scientific disciplines (e.g., epidemiology, biostatistics, pharmacology, social and behavioral sciences, nutrition, nursing, health economics, community-based participatory research, dental health, and medicine), methodologies (e.g., observational and experimental) and health professions (e.g., nursing, public health, pharmacy, clinical psychology, sports physiology, physical therapy), including Engineering, which traditionally does not engage in clinical and translational human research. One of the important mechanisms by which the MW CTR-IN Program supports and facilitates collaborations is through our Pilot Grants Program. The Pilot Grants are designed as catalysts to help researchers lay the groundwork for larger, independent grant proposals. To date, almost $47 million in extramural grant funding has been achieved, representing a return on investment of 1013%! The major focus of the MW CTR-IN Program is on addressing health disparities in the MW Region. Hence, our abstracts for our 6th Annual MW CTR-IN Meeting reflect our focus on health disparities. The MW CTR-IN 6th Annual Meeting showcased the health disparity research results of our 10 Pilot Grant Awardees (Table 1). These 10 Pilot Grants represented most of our University Partners involving a wide range of health disparity research areas and very diverse populations. For example, our current PG Awardees’ research areas varied from Dr. Atif Zafar’s focus on “Healthcare disparities among Hispanics, Native Americans, and Caucasians in Ischemic Stroke Patients” to Dr. Renee Robinson’s research in “Assessing the Long-Term Outcomes of Specialized Supportive Care on the Health of Infants with In-Utero Opioid Exposure”. In addition, our “Call for Abstracts” also generated a tremendous interest from our MW faculty investigators. In total, over 26 abstracts were submitted, of which only 3 were accepted for oral podium presentation and 9 were accepted for poster presentation (Table 2). These abstracts also again showed the diversity of research being conducted in the MW region

Survey of Italian pediatricians on awareness, experiences and beliefs regarding direct-to-consumer genetic testing in minors

Background: Our study wanted to assess Italian pediatricians’ awareness, experience and beliefs regarding directto- consumer (DTC) genetic tests (GT) in minors, with a focus on those for predisposition to complex disease, lyfestyle, athletic ability and other inborn talents. Methods: A 28-item questionnaire was administered through the SurveyMonkey® web platform to the 9,086 members of the Italian Society of Pediatrics for which a valid email address was available. The survey was opened from April through November 2017. Statistical analyses were performed using the Graphpad software package. Results: 36.2% of the 442 respondents were aware of DTC-GT, but only 23.1% of them felt adequately prepared to meet families’ information needs. The first three sources of knowledge were the Internet (20.98%), magazines/ newspapers (16.78%) and TV/Radio (14.33%), while companies’ direct marketing activity influenced knowledge only in 2.45% of the cases. Only 16.4% of the aware respondents had been already approached for advice. More than 95% of the pediatricians who were aware would not advise DTC-GT for lifestyle, athletic performance or other inborn skills. 69.2% was unfavourable to susceptibility tests for complex diseases. Most of them expressed an interest in learning more and indicated as preferred sources of information public policies issued by professional societies. Conclusion: The low awareness and experience and the vendors’ tiny contribution to knowledge suggest a still limited penetration of DTC-GT companies in Italy. A great interest in learning more was found. Scientific societies are best positioned to support health professionals in this educational goal thanks to their role of trusted sources of information and guidance