Identifying the Environmental Causes of Disease: How Should We Decide What to Believe and When to Take Action?

Total Page:16

File Type:pdf, Size:1020Kb

Identifying the Environmental Causes of Disease: How Should We Decide What to Believe and When to Take Action? Identifying the environmental causes of disease: how should we decide what to believe and when to take action? An Academy of Medical Sciences working group report chaired by Sir Michael Rutter CBE FRS FBA FMedSci November 2007 The Academy of Medical Sciences The Academy of Medical Sciences promotes advances in medical science and campaigns to ensure these are converted into healthcare benefits for society. Our Fellows are the UK’s leading medical scientists from hospitals and general practice, academia, industry and the public service. The Academy plays a pivotal role in determining the future of medical science in the UK, and the benefits that society will enjoy in years to come. We champion the UK’s strengths in medical science, including the unique opportunities for research afforded by the NHS, encourage the implementation of new ideas and solutions – often through novel partnerships, promote careers and capacity building and help to remove barriers to progress. ISBN No: 1-903401-16-X Identifying the environmental causes of disease: how should we decide what to believe and when to take action? An Academy of Medical Sciences working group report chaired by Sir Michael Rutter CBE FRS FBA FMedSci November 2007 IDenTifYinG THE enVirOnmenTAL caUses OF Disease Acknowledgements The Academy of Medical Sciences is most grateful to Professor Sir Michael Rutter CBE FRS FBA FMedSci and the members of the working group for undertaking this study. The Academy wishes to thank the review group, the Academy's Officers, Council and staff, participants at the workshop and all respondents to the consultation for their informative comments and support. The Academy is grateful to the University Hospitals Association for its support. Disclaimer This report is published by the Academy of Medical Sciences and has been endorsed by its Officers and Council. Contributions by the working group and respondents to the call for evidence are made purely in an advisory capacity. The review group added a further ‘peer-review’ stage of quality control to the process of report production. The reviewers were not asked to endorse the report or its findings. The members of the working group and the review group participated in this report in an individual capacity and not as representatives of, or on behalf of, their affiliated hospitals, universities, organisations or associations. Their participation should not be taken as endorsement by these bodies. © Academy of Medical Sciences 2 CONTenTS Contents Summary 7 Recommendations 11 Guidelines 13 Guidelines for researchers 1 Guidelines for editors of science and medical journals 14 Guidelines for science or medical writers and journalists 15 Guidelines for policymakers 16 Guidelines for clinicians and healthcare practitioners 17 Guidelines for funders 18 1. Introduction 19 2. What is a cause? 23 2.1 What is meant by a cause when there are multiple causal elements? 2 2.2 Are environmental influences on human disease likely to be important? 25 3. Types of designs used to identify causes 27 .1 Experiments 27 .2 Randomised controlled trials 27 . Regression discontinuity designs 28 .4 Natural experiments 28 .5 Non-experimental studies 29 .5.1 Cohort studies 29 .5.2 Case-control studies 29 .5. Ecological designs 29 .6 Animal models 0 4. Non-experimental research in medicine 33 5. Identification of the causes of disease 35 5.1 Non-causal explanations of an observed association 5 5.2 Making a causal inference 6 5. Counterfactual reasoning 8 5.4 Dealing with errors and confounders 9 5.4.1 Major sources of bias in non-experimental studies 9 5.4.2 Confounders 40 5.4. Mixed approaches 42 5.4.4 Statistical modelling based on causal graphs 4 5.4.5 Propensity scores 4 5.4.6 Sensitivity analyses 45 5.4.7 Can statistical control for measured confounders be sufficient? 45 5.5 Natural experiments 46 5.5.1 Genetically sensitive designs 46 5.5.2 Other uses of twin and adoption designs 47 IDenTifYinG THE enVirOnmenTAL caUses OF Disease 5.5. Designs to avoid selection bias 49 5.5.4 Within individual change 50 5.5.5 Overview of natural experiments 51 5.6 What is the place of RCTs in research into causes? 51 6. Examples of non-experimental research 55 6.1 Introduction to examples of non-experimental research 55 6.2 Non-experimental research that has led to relatively strong inferences 55 6.2.1 Smoking and lung cancer 55 6.2.2 Lipids and coronary artery disease 55 6.2. Perinatal studies in HIV infection 56 6.2.4 Male circumcision and HIV 57 6.2.5 Blood transfusion and variant Creutzfeldt-Jacob disease (vCJD) 58 6.2.6 Folic acid and neural tube defects 58 6.2.7 Fetal alcohol syndrome 59 6.2.8 Rubella, thalidomide and teratogenic effects 60 6.2.9 Physical and sexual abuse of children 61 6.2.10 Institutional care and disinhibited attachment disorders 61 6.2.11 Lessons from case studies with relatively strong causal claims 62 6.. Non-experimental research with probably valid causal inferences 62 6..1 Hormone replacement therapy and breast and uterine cancer 6 6..2 Social and economic inequality and adverse health outcomes 64 6.. Sleeping position and Sudden Infant Death Syndrome (SIDS) 65 6..4 Gene-environment interactions and psychopathology 66 6..5 Lessons from examples of probably valid causal inferences 66 6.4 Non-experimental research with probably misleading causal claims 67 6.4.1 The Measles Mumps Rubella vaccine 67 6.4.2 Hormone replacement therapy and coronary artery disease 68 6.4. Calcium channel blockers 69 6.4.4 Caffeine in pregnancy 69 6.4.5 Vitamin supplements and mortality 70 6.4.6 Early alcohol use and later alcohol abuse or dependency 70 6.4.7 Lessons from misleading claims 71 7. Identification of causes and implications for policy and practice 73 7.1 How and when to act on identification of causes of disease 7 7.2 Quantifying risk 7 7. Mediation of causal effects 74 7.4 Decision making on research evidence 74 7.5 When should identification of causes of disease lead to policy action? 76 7.6 Governmental attitudes to research 78 8. Communicating the findings from causal research 81 9. Conclusions 85 9.1 When are causal inferences from non-experimental studies justifiable? 85 9.2 Can non-experimental studies give rise to a causal inference? 86 9. Can non-experimental studies be misleading? 87 4 CONTenTS 9.4 Why are there conflicting claims on causes? 87 9.5 Do RCTs constitute the only satisfactory means of establishing causation? 88 9.6 Is there a statistical approach that completely deals with confounding variables? 88 9.7 Recommendations and guidelines 89 9.8 Overall conclusion 91 Appendix I: Statistics 93 Appendix II: Working group and summary of their interests 103 Appendix III: Reviewers 107 Appendix IV: List of consultees and respondents to the call for evidence 109 Appendix V: Glossary 113 Appendix VI: Abbreviations 119 Appendix VII: References 121 5 IDenTifYinG THE enVirOnmenTAL caUses OF Disease 6 SUmmarY Summary 1. Scarcely a day goes by without some new knowledge on the specifics of these report of a study claiming to have discovered a environmental influences, and of the biological new important environmental cause of disease. pathways through which they exert their causal Often these concern serious disorders such as effects, is decidedly limited. We concluded cancer or heart disease and sometimes they that priority needs to be given to high quality implicate factors such as toxins or diet that are research using designs that could help identify readily susceptible to modification. The problem the environmental components of the causal is that few of these findings are confirmed by pathways that lead to disease. subsequent research and, occasionally, new studies even find the opposite. If many of these 5. Sometimes people have wanted research to causal claims turn out to be mistaken, how identify the single basic cause of disease. should we decide what to believe and when to We concluded that this was not the right take action? question. Most common diseases involve the coming together of multiple environmental 2. The challenge for the working party was and multiple genetic causes. Accordingly, the to consider the types of research needed question needed to be: how can we identify to identify environmental causes of disease whether some specific environmental factor when, for practical or ethical reasons, they has a true causal effect that contributed to could not be experimentally investigated. the development of a disease – meaning Inevitably, therefore, our attention had to be that, if it were not present, the rate of that focused on non-experimental studies observing disease would be less? The implication is that associations between specific risk features and knowledge about the causes of disease can different disease outcomes. We considered have an important impact on its treatment, the strengths and limitations of such non- diagnosis or prevention. experimental studies and what steps can be taken to reduce the uncertainties about their 6. We concluded that non-experimental supposed causal effects. methods are fundamental to clinical practice and policymaking. Provided stringent criteria . In order to build the rich evidence base are met, non-experimental research can, that underpins the conclusions of this project and does, give rise to valid inferences on the we issued a call for evidence to which over environmental causes of disease. This has 70 written submissions were received. This important implications for both public policy was buttressed by the findings of a successful and the treatment of individual patients. workshop that brought together a wide range of stakeholders. The evidence obtained from these 7.
Recommended publications
  • Royal College of Paediatrics and Child Health British Paediatric Surveillance Unit
    Royal College of Paediatrics and Child Health British Paediatric Surveillance Unit 14th Annual Report 1999/2000 The British Paediatric Surveillance Unit always welcomes invitations to give talks describing the work of the Unit and makes every effort to respond to these positively. Enquiries should be directed to our office. The Unit positively encourages recipients to copy and circulate this report to colleagues, junior staff and medical students. Additional copies are available from our office, to which any enquiries should be addressed. Published September 2000 by the: British Paediatric Surveillance Unit A unit within the Research Division of the Royal College of Paediatrics and Child Health 50 Hallam Street London W1W 6DE Telephone: 44 (0) 20 7307 5680 Facsimile: 44 (0) 20 7307 5690 E-mail: [email protected] Registered Charity No. 1057744 ISBN 1 900954 48 6 © British Paediatric Surveillance Unit British Paediatric Surveillance Unit - 14 Annual Report 1999-2000 Compiled and edited by Richard Lynn, Angus Nicoll, Jugnoo Rahi and Chris Verity Membership of Executive Committee 1999/2000 Dr Christopher Verity Chairman Dr Angus Clarke Co-opted Professor Richard Cooke Royal College of Paediatrics and Child Health Research Division Dr Patricia Hamilton Co-opted Professor Peter Kearney Faculty of Paediatrics, Royal College of Physicians of Ireland Dr Jugnoo Rahi Medical Adviser Dr Ian Jones Scottish Centre for Infection and Environmental Health Dr Christopher Kelnar Co-opted Dr Gabrielle Laing Co-opted Mr Richard Lynn Scientific Co-ordinator
    [Show full text]
  • Chemical, Biological, and Environmental Factors Responsible for The
    CHEMICAL, BIOLOGICAL, AND ENVIRONMENTAL FACTORS RESPONSIBLE FOR THE - -v - - - IN THE AUBURN CITY WATER SUPPLY AGRICULTURAL EXPERIMENT STATION/AUBURN UNIVERSITY R. DENNIS ROUSE, DIRECTOR AUBURN, ALABAMA BULLETIN 490 JULY 1977 CONTENTS Page INTRODUCTION ........ .. .. ............... 3 Background on Odors of Biological Origin in Water .......................... 3 Odor in the Auburn Water ........................... 5 PROCEDURES ............................ 5 RESULTS AND DISCUSSION ........... ...... .......... 7 Biological Factors................................ 7 Chemical Factors ............................... 22 Environmental Factors Related to the Growth and Production of Odorous Substances by Actinomycetes ....... 24 Correlation of Rainfall, Temperature, and Threshold Odor Number (TON) ................... 39 SUMMARY ... ... ...................... ........... 41 REFERENCES ................... ....... ... .......... 45 FIRST PRINTING 3M, JULY 1977 ACKNOWLEDGEMENTS The authors wish to thank the Auburn Water Board for the financial support of this project, the Auburn Water Treatment Plant for supplying TON values, Dr. John Lawrence for use of the carbon analyzer, and Sandy Williams, Frank Seesock, and Susan Brownlee for technical assistance. Information contained herein is available to all without regard to race, color, or nationalorigin. CHEMICAL, BIOLOGICAL, and ENVIRONMENTAL FACTORS RESPONSIBLE for the EARTHY ODOR in the AUBURN CITY WATER SUPPLY J. D. WEETE, W. T. BLEVINS, G. R.WILT, and D. DURHAM' INTRODUCTION Background On Odors Of Biological Origin in Water HE OCCURRENCE of objectionable odors in water used for drinking and commercial purposes is well documented in certain regions of the United States (1, 4, 12, 15) and various other parts of the world. (1, 8, 9, 11). Odors in sur- face waters may originate from industrial and municipal sewage effluents or from biological activities of algae or heterotrophic microorganisms. Odors of biological origin may be due to decomposition of organisms or to the produc- tion of microbial metabolites.
    [Show full text]
  • Commentary: Facing the Challenge of Gene-Environment Interaction: the Two-By-Four Table and Beyond
    American Journal of Epidemiology Vol. 153, No. 10 Copyright © 2001 by The Johns Hopkins University School of Hygiene and Public Health Printed in U.S.A. All rights reserved The Challenge of Gene-Environment Interaction Botto and Khoury PRACTICE OF EPIDEMIOLOGY Commentary: Facing the Challenge of Gene-Environment Interaction: The Two-by-Four Table and Beyond Lorenzo D. Botto1 and Muin J. Khoury2 As a result of the Human Genome Project, epidemiologists can study thousands of genes and their interaction with the environment. The challenge is how to best present and analyze such studies of multiple genetic and environmental factors. The authors suggest emphasizing the fundamental core of gene-environment interaction—the separate assessment of the effects of individual and joint risk factors. In the simple analysis of one genotype and an exposure (both dichotomous), such study can be summarized in a two-by-four table. The advantages of such a table for data presentation and analysis are many: The table displays the data efficiently and highlights sample size issues; it allows for evaluation of the independent and joint roles of genotype and exposure on disease risk; and it emphasizes effect estimation over model testing. Researchers can easily estimate relative risks and attributable fractions and test different models of interaction. The two-by-four table is a useful tool for presenting, analyzing, and synthesizing data on gene-environment interaction. To highlight the role of gene-environment interaction in disease causation, the authors propose that the two-by-four table is the fundamental unit of epidemiologic analysis. Am J Epidemiol 2001;153:1016–20.
    [Show full text]
  • Environmental Factors Affecting the Composition and Diversity of The
    Imai et al. Journal of Ecology and Environment (2017) 41:8 Journal of Ecology DOI 10.1186/s41610-017-0027-2 and Environment RESEARCH Open Access Environmental factors affecting the composition and diversity of the avian community in igune, a traditional agricultural landscape in northern Japan Haruka Imai1*, Tohru Nakashizuka1,2 and Michio Oguro1,3 Abstract Background: “Igune,” a traditional agricultural landscape in the Tohoku region of Japan, is characterized by small-scale artificial woodlots surrounding a farmer’s house that are interspersed with paddy fields. During the rapid economic growth of Japan over recent decades, some igune woodlots have been abandoned or logged. Biodiversity conservation is an important issue worldwide, and traditional agricultural landscapes are of particular interest. To elucidate the role of igune landscapes in conserving biodiversity, we examined the effects of environmental factors on avian communities. Results: The study was conducted in the suburban areas of Oshu and Hanamaki cities, Iwate Prefecture, Japan, at eight sites that varied in the density and area of igune woodlots within the landscape. Bird surveys were conducted from the middle to late breeding season, and several environmental factors of the igune landscape were also measured. The results of canonical correspondence analysis indicated that the characteristics of avian communities were mainly determined by the total forested area in the landscape. Increased total forested area and shrubs layer of igune woodlots did not cause a reduction in number of bird species of any habitat and foraging types, while increased both in species number and abundance of insectivores and forest species. The number of raptor species increased in igune sites without shrubs.
    [Show full text]
  • How Much Global Ill Health Is Attributable to Environmental Factors?
    ORIGINAL ARTICLES How Much Global Ill Health Is Attributable to Environmental Factors? Kirk R. Smith,1 Carlos F. Corvalán2, and Tord Kjellström3 Over the years, estimates have been made of the portions of attributed to environmental risk factors. Children under 5 human mortality and morbidity that can be attributed to years of age seem to bear the largest environmental burden, environmental factors. Frustratingly, however, even for a and the portion of disease due to environmental risks seems single category of disease such as cancer, these estimates to decrease with economic development. A summary of have often varied widely. Here we attempt to explain why these estimates first appeared in the 1997 report, "Health such efforts have come to such different results in the past and Environment in Sustainable Development," which was and to provide guidance for doing such estimates more the World Health Organization's contribution to the 5-year consistently in the future to avoid the most important pitfalls. anniversary of the Rio Earth Summit. A full explanation of We do so by carefully defining what we mean by the terms how these estimates were made is first presented here. We "environmental," "ill health," and "attributable." Finally, end with a call for a program of "strategic epidemiology," based on these recommendations, we attempt our own which would be designed to fill important gaps in the estimate, appropriately qualified according to the many understanding of major environmental health risks in remaining uncertainties. Our estimate is that 25-33% of the important population groups worldwide. (Epidemiology global burden of disease can be 1999;10:573-584) Keywords: environmental exposures, morbidity, mortality, children, environmental health risks, populations, global factors, public health.
    [Show full text]
  • HUMAN GENE MAPPING WORKSHOPS C.1973–C.1991
    HUMAN GENE MAPPING WORKSHOPS c.1973–c.1991 The transcript of a Witness Seminar held by the History of Modern Biomedicine Research Group, Queen Mary University of London, on 25 March 2014 Edited by E M Jones and E M Tansey Volume 54 2015 ©The Trustee of the Wellcome Trust, London, 2015 First published by Queen Mary University of London, 2015 The History of Modern Biomedicine Research Group is funded by the Wellcome Trust, which is a registered charity, no. 210183. ISBN 978 1 91019 5031 All volumes are freely available online at www.histmodbiomed.org Please cite as: Jones E M, Tansey E M. (eds) (2015) Human Gene Mapping Workshops c.1973–c.1991. Wellcome Witnesses to Contemporary Medicine, vol. 54. London: Queen Mary University of London. CONTENTS What is a Witness Seminar? v Acknowledgements E M Tansey and E M Jones vii Illustrations and credits ix Abbreviations and ancillary guides xi Introduction Professor Peter Goodfellow xiii Transcript Edited by E M Jones and E M Tansey 1 Appendix 1 Photographs of participants at HGM1, Yale; ‘New Haven Conference 1973: First International Workshop on Human Gene Mapping’ 90 Appendix 2 Photograph of (EMBO) workshop on ‘Cell Hybridization and Somatic Cell Genetics’, 1973 96 Biographical notes 99 References 109 Index 129 Witness Seminars: Meetings and publications 141 WHAT IS A WITNESS SEMINAR? The Witness Seminar is a specialized form of oral history, where several individuals associated with a particular set of circumstances or events are invited to meet together to discuss, debate, and agree or disagree about their memories. The meeting is recorded, transcribed, and edited for publication.
    [Show full text]
  • Public Health Classifications Project – Determinants of Health
    Public Health Classifications Project – Determinants of Health Phase Two: Final Report Acknowledgements We acknowledge the National Public Health Partnership for leading the first phase of work on public health classification; the New South Wales Department of Health and the Public Health Information Development Unit, the University of Adelaide for sponsoring this Project; colleagues from both for their support of the Project Officer; the Sax Institute for providing meeting premises and equipment; and the National Centre for Classification in Health for access to ICD-10, the 11th coding conference and opportunities to meet and discuss issues with ICD coders. NSW DEPARTMENT OF HEALTH 73 Miller Street NORTH SYDNEY NSW 2060 Tel. (02) 9391 9000 Fax. (02) 9391 9101 TTY. (02) 9391 9900 www.health.nsw.gov.au Report prepared for the New South Wales Department of Health Report prepared by Su Gruszin, the Project Officer; Louisa Jorm, the Chair of the Project Working Group; and Working Group members: Tim Churches, Richard Madden, Sarah Thackway, and Ros Madden. This work is copyright. It may be reproduced in whole or in part for study training purposes subject to the inclusion of an acknowledgement of the source. It may not be reproduced for commercial usage or sale. Reproduction for purposes other than those indicated above requires written permission from the NSW Department of Health. © NSW Department of Health 2010 SHPN (CER) 100195 ISBN 978-1-74187-461-7 Further copies of this document can be downloaded from the NSW Health website www.health.nsw.gov.au December 2010 Contents Executive Summary ................................................................. 3 Section 1: Introduction .............................................................
    [Show full text]
  • LD5655.V855 1993.R857.Pdf
    INITIATING INTERNATIONAL COLLABORATION: A STUDY OF THE HUMAN GENOME ORGANIZATION by Deborah Rumrill Thesis submitted to the faculty of the Virginia Polytechnic Institute and State University in partial fulfillment of the requirements for the degree of MASTER OF SCIENCE in Science and Technology Studies APPROVED: Mj Lallon Doris Zallen Av)eM rg Ann La Berg James Bohland July 1993 Blacksburg, Virginia INITIATING INTERNATIONAL COLLABORATION: A STUDY OF THE HUMAN GENOME ORGANIZATION by Deborah G. C. Rumrill Committee Chair: Doris T. Zallen Department of Science and Technology Studies (ABSTRACT) The formation of the Human Genome Organization, nicknamed HUGO, in 1988 was a response by scientists to the increasing number of programs designed to examine in detail human genetic material that were developing worldwide in the mid 1980s and the perceived need for initiating international collaboration among the genomic researchers. Despite the expectations of its founders, the Human Genome Organization has not attained immediate acceptance either inside or outside the scientific community, struggling since its inception to gain credibility. Although the organization has been successful as well as unsuccessful in its efforts to initiate international collaboration, there has been little or no analysis of the underlying reasons for these outcomes. This study examines the collaborative activities of the organization, which are new to the biological community in terms of kind and scale, and finds two conditions to be influential in the outcome of the organization’s efforts: 1) the prior existence of a model for the type of collaboration attempted; and 2) the existence or creation of a financial or political incentive to accept a new collaborative activity.
    [Show full text]
  • Bioactive Nutrients and Nutrigenomics in Age-Related Diseases
    molecules Review Bioactive Nutrients and Nutrigenomics in Age-Related Diseases Tania Rescigno 1, Luigina Micolucci 2,3, Mario F. Tecce 1 and Anna Capasso 1,* 1 Department of Pharmacy, University of Salerno, Fisciano 84084, Italy; [email protected] (T.R.); [email protected] (M.F.T.) 2 Computational Pathology Unit, Department of Clinical and Molecular Sciences, Università Politecnica delle Marche, Ancona 60120, Italy; [email protected] 3 Laboratory of Experimental Pathology, Department of Clinical and Molecular Sciences, Università Politecnica delle Marche, Ancona 60120, Italy * Correspondence: [email protected]; Tel.: +39-089-989744 Academic Editor: Philippe Bulet Received: 18 November 2016; Accepted: 3 January 2017; Published: 8 January 2017 Abstract: The increased life expectancy and the expansion of the elderly population are stimulating research into aging. Aging may be viewed as a multifactorial process that results from the interaction of genetic and environmental factors, which include lifestyle. Human molecular processes are influenced by physiological pathways as well as exogenous factors, which include the diet. Dietary components have substantive effects on metabolic health; for instance, bioactive molecules capable of selectively modulating specific metabolic pathways affect the development/progression of cardiovascular and neoplastic disease. As bioactive nutrients are increasingly identified, their clinical and molecular chemopreventive effects are being characterized and systematic analyses encompassing the “omics” technologies (transcriptomics, proteomics and metabolomics) are being conducted to explore their action. The evolving field of molecular pathological epidemiology has unique strength to investigate the effects of dietary and lifestyle exposure on clinical outcomes. The mounting body of knowledge regarding diet-related health status and disease risk is expected to lead in the near future to the development of improved diagnostic procedures and therapeutic strategies targeting processes relevant to nutrition.
    [Show full text]
  • Designing Debate: the Entanglement of Speculative Design and Upstream Engagement
    Designing Debate: The Entanglement of Speculative Design and Upstream Engagement Thesis submitted for the degree of Doctor of Philosophy (PhD) 30th July 2015 Tobie Kerridge Design Department Goldsmiths, University of London Designing Debate: The Entanglement of Speculative Design and Upstream Engagement DECLARATION The work presented in this thesis is my own. Signed: Tobie Kerridge Tobie Kerridge, Design Department, Goldsmiths, University of London 2 Designing Debate: The Entanglement of Speculative Design and Upstream Engagement ACKNOWLEDGEMENTS The supervisory energies of Bill Gaver and Mike Michael have been boundless. Bill you have helped me develop an academic account of design practice that owes much to the intelligence and incisiveness of your own writing. MiKe your provocative treatment of public engagement and generous dealings with speculative design have enabled an analytical account of these practices. I have benefited from substantial feedbacK from my upgrade examiners Sarah Kember and Jennifer Gabrys, and responded to the insightful comments of my viva examiners Carl DiSalvo and Jonas Löwgren in the body of this final transcript. Colleagues at Goldsmiths, in Design and beyond, you have provided support, discussion, and advice. Thank you for your patience and generosity Andy Boucher, Sarah Pennington, Alex WilKie, Nadine Jarvis, Dave Cameron, Juliet Sprake, Matt Ward, Martin Conreen, Kay Stables, Janis Jefferies, Mathilda Tham, Rosario Hutardo and Nina WaKeford, along with fellow PhD-ers Lisa George, Rose Sinclair and Hannah
    [Show full text]
  • The Exposome & Precision Medicine
    Institute for Exposomic Research, Icahn School of Medicine at Mount Sinai The Exposome & Precision Medicine “Everything that rises must converge” Flannery O’Connor Robert O. Wright MD MPH Ethel H Wise Professor and Chairman Department of Environmental Medicine Director: Mount Sinai Institute for Exposomics Icahn School of Medicine at Mount Sinai What is Precision Medicine? • NRC Definition – Tailoring of medical treatment to the characteristics of each patient. • classify individuals into subpopulations that differ in their susceptibility to a disease, prognosis, or response to a specific treatment. • Interventions are concentrated on those who benefit, sparing expense and side effects for those who will not. In essence, it means understanding the patient’s individual background - that influences disease severity, progression and response to treatment Operates in a setting where the Probability of illness = 1 (i.e. prevention no longer matters) The promise of precision medicine • Pharmacogenomics – Increased drug efficacy & decreased toxicity – Decreased exposure to ineffective drugs – Target therapy to the most effective drugs – Targeting of behavioral modifications based on individual risk factors • Improved counseling and decision making • Improved patient outcomes and satisfaction • Improved tolerance of therapy improve adherence But we know that genetics is only 1 piece of a much bigger puzzle Genes Behavior Nutrition Infections Chemicals Physical environment Culture/society Stress Introduction to the special issue in Science was entitled: “It's Not Just the Genes” Vol 296, 2002 Paula Kiberstis, Leslie Roberts For many programs in Precision Medicine, there is no mention of environment Complex Disease Research “So, how did we get here?” -David Byrne ADHD, Obesity, Asthma, COPD, Parkinson’s, Cancer etc.
    [Show full text]
  • Critical Care Decisions in Fetal and Neonatal Medicine: Ethical Issues Published by Nuffield Council on Bioethics 28 Bedford Square London WC1B 3JS
    Critical care decisions in fetal and neonatal medicine: ethical issues Published by Nuffield Council on Bioethics 28 Bedford Square London WC1B 3JS Telephone: 020 7681 9619 Fax: 020 7637 1712 Email: [email protected] Website: http://www.nuffieldbioethics.org ISBN 1 904384 14 5 November 2006 To order a printed copy please contact the Nuffield Council on Bioethics or visit the website. © Nuffield Council on Bioethics 2006 All rights reserved. Apart from fair dealing for the purpose of private study, research, criticism or review, no part of the publication may be produced, stored in a retrieval system or transmitted in any form, or by any means, without prior permission of the copyright owners. Production management by: The Clyvedon Press Ltd 95 Maes-y-Sam Pentyrch Cardiff CF15 9QR Printed by: Latimer Trend & Company Ltd Estover Road Plymouth PL6 7PY Critical care decisions in fetal and neonatal medicine: ethical issues Nuffield Council on Bioethics Professor Sir Bob Hepple QC FBA (Chairman) Professor Peter Smith CBE (Deputy Chairman) Professor Margaret Brazier OBE* Professor Roger Brownsword Professor Sir Kenneth Calman KCB FRSE The Rt Rev Richard Harries DD FKC FRSL Professor Peter Harper Professor Søren Holm Mr Anatole Kaletsky Dr Rhona Knight Professor Sir John Krebs FRS* Professor Peter Lipton Professor Hugh Perry Professor Lord Plant of Highfield Dr Alan Williamson FRSE * co-opted members of the Council for the period of chairing the Working Parties on Critical care decisions in fetal and neonatal medicine: ethical issues
    [Show full text]