Skip to main content
Erschienen in: European Journal of Epidemiology 3/2018

05.04.2018 | ESSAY

Epidemiology in wonderland: Big Data and precision medicine

verfasst von: Rodolfo Saracci

Erschienen in: European Journal of Epidemiology | Ausgabe 3/2018

Einloggen, um Zugang zu erhalten

Abstract

Big Data and precision medicine, two major contemporary challenges for epidemiology, are critically examined from two different angles. In Part 1 Big Data collected for research purposes (Big research Data) and Big Data used for research although collected for other primary purposes (Big secondary Data) are discussed in the light of the fundamental common requirement of data validity, prevailing over “bigness”. Precision medicine is treated developing the key point that high relative risks are as a rule required to make a variable or combination of variables suitable for prediction of disease occurrence, outcome or response to treatment; the commercial proliferation of allegedly predictive tests of unknown or poor validity is commented. Part 2 proposes a “wise epidemiology” approach to: (a) choosing in a context imprinted by Big Data and precision medicine—epidemiological research projects actually relevant to population health, (b) training epidemiologists, (c) investigating the impact on clinical practices and doctor-patient relation of the influx of Big Data and computerized medicine and (d) clarifying whether today "health" may be redefined—as some maintain in purely technological terms.
Literatur
1.
Zurück zum Zitat Watson JD, Crick FHC. Molecular structure of nucleic acids—a structure for deoxyribose nucleic acid. Nature. 1953;171:737–8.CrossRefPubMed Watson JD, Crick FHC. Molecular structure of nucleic acids—a structure for deoxyribose nucleic acid. Nature. 1953;171:737–8.CrossRefPubMed
2.
Zurück zum Zitat Blackburn EK, Callender ST, Dacie JV, Doll R, Girdwood RH, Mollin DL, Saracci R, Stafford JL, Thompson RB, Varadi S, Wetherley-Mein G. Possible association between pernicious anaemia and leukaemia: a prospective study of 1625 patients with a note on the very high incidence of stomach cancer. Int J Cancer. 1968;3:163–7.CrossRefPubMed Blackburn EK, Callender ST, Dacie JV, Doll R, Girdwood RH, Mollin DL, Saracci R, Stafford JL, Thompson RB, Varadi S, Wetherley-Mein G. Possible association between pernicious anaemia and leukaemia: a prospective study of 1625 patients with a note on the very high incidence of stomach cancer. Int J Cancer. 1968;3:163–7.CrossRefPubMed
5.
Zurück zum Zitat Keys A, editor. Seven Countries: a multivariate analysis of death and coronary heart disease. Cambridge, MA: Harvard University Press; 1980. Keys A, editor. Seven Countries: a multivariate analysis of death and coronary heart disease. Cambridge, MA: Harvard University Press; 1980.
7.
Zurück zum Zitat Rothman KJ, Greenland S, Lash TL. Modern epidemiology. 3rd ed. Philadelphia: Lippincott Williams & Wilkins; 2008. Rothman KJ, Greenland S, Lash TL. Modern epidemiology. 3rd ed. Philadelphia: Lippincott Williams & Wilkins; 2008.
8.
Zurück zum Zitat Hu H, Galea S, Rosella L, Henry D. Big Data and population health: focusing on the health impacts of the social, physical, and economic environment. Epidemiology. 2017;26:759–62.CrossRef Hu H, Galea S, Rosella L, Henry D. Big Data and population health: focusing on the health impacts of the social, physical, and economic environment. Epidemiology. 2017;26:759–62.CrossRef
9.
Zurück zum Zitat Holmes DA. Big Data. A very short introduction. Oxford: Oxford University Press; 2017.CrossRef Holmes DA. Big Data. A very short introduction. Oxford: Oxford University Press; 2017.CrossRef
10.
Zurück zum Zitat Schwab K. The fourth industrial revolution. Geneva: World Economic Forum; 2016. Schwab K. The fourth industrial revolution. Geneva: World Economic Forum; 2016.
11.
Zurück zum Zitat Gilbert JP, Meier P, Rumke CL, Saracci R, Zelen M, White C. Report of the Committee for the assessment of biometric aspects of controlled trials of hypoglycemic agents. JAMA 1975; 231:583–608.CrossRef Gilbert JP, Meier P, Rumke CL, Saracci R, Zelen M, White C. Report of the Committee for the assessment of biometric aspects of controlled trials of hypoglycemic agents. JAMA 1975; 231:583–608.CrossRef
12.
Zurück zum Zitat Margetts BM, Pietinen P, Riboli E, editors. European prospective investigation into cancer and nutrition: validity studies on dietary assessment methods. Int J Epidemiol. 1997;26(suppl 1):S1–89. Margetts BM, Pietinen P, Riboli E, editors. European prospective investigation into cancer and nutrition: validity studies on dietary assessment methods. Int J Epidemiol. 1997;26(suppl 1):S1–89.
15.
Zurück zum Zitat Anderson CA, Petterson FH, Clarke GM, Cardon LR, Morris AP, Zondervan KT. Data quality control in genetic case-control association studies. Nat Protoc. 2010;5:1564–73.CrossRefPubMedPubMedCentral Anderson CA, Petterson FH, Clarke GM, Cardon LR, Morris AP, Zondervan KT. Data quality control in genetic case-control association studies. Nat Protoc. 2010;5:1564–73.CrossRefPubMedPubMedCentral
17.
Zurück zum Zitat Brennan P, Perola M, van Ommen GJ, Riboli E. European cohort Consortium. Chronic disease research in Europe and the need for integrated population cohorts. Eur J Epidemiol. 2017;32:741–9.CrossRefPubMedPubMedCentral Brennan P, Perola M, van Ommen GJ, Riboli E. European cohort Consortium. Chronic disease research in Europe and the need for integrated population cohorts. Eur J Epidemiol. 2017;32:741–9.CrossRefPubMedPubMedCentral
18.
Zurück zum Zitat Vineis P, Chadeau-Hyam M, Gmuender H, Gulliver J, Herceg Z, Kleinjans J, Kogevinas M, Kyrtopoulos S, Nieuwenhuijsen M, Phillips DH, Probst-Hensch N, Scalbert A, Vermeulen R, Wild CP. The EXPOsOMICS Consortium. The exposome in practice: design of the EXPOsOMICS project. Int J Hyg Environ Health. 2016;220:142–51.CrossRefPubMed Vineis P, Chadeau-Hyam M, Gmuender H, Gulliver J, Herceg Z, Kleinjans J, Kogevinas M, Kyrtopoulos S, Nieuwenhuijsen M, Phillips DH, Probst-Hensch N, Scalbert A, Vermeulen R, Wild CP. The EXPOsOMICS Consortium. The exposome in practice: design of the EXPOsOMICS project. Int J Hyg Environ Health. 2016;220:142–51.CrossRefPubMed
20.
21.
Zurück zum Zitat Olsen J. Using secondary data. In: Rothman KJ, Greenland S, Lash TL, editors. Modern epidemiology. 3rd ed. Philadelphia: Lippincott Williams & Wilkins; 2008. p. 481–91. Olsen J. Using secondary data. In: Rothman KJ, Greenland S, Lash TL, editors. Modern epidemiology. 3rd ed. Philadelphia: Lippincott Williams & Wilkins; 2008. p. 481–91.
22.
Zurück zum Zitat Graunt J. Natural and political observations mentioned in a following index, and made upon the Bills of Mortality. Facsimile ed. New York: Arno Press; 1975. Graunt J. Natural and political observations mentioned in a following index, and made upon the Bills of Mortality. Facsimile ed. New York: Arno Press; 1975.
23.
Zurück zum Zitat Stafoggia M, Schwartz J, Badaloni C, Bellander T, Alessandrini E, Cattani G, De Donato F, Gaeta A, Leone G, Lyapustin A, Sorek-Hamer M, de Hoogh K, Di Q, Forastiere F, Kloog I. Estimation of daily PM10 concentrations in Italy (2006–2012) using finely resolved satellite data, land use variables and meteorology. Environ Int. 2017;99:234–44.CrossRefPubMed Stafoggia M, Schwartz J, Badaloni C, Bellander T, Alessandrini E, Cattani G, De Donato F, Gaeta A, Leone G, Lyapustin A, Sorek-Hamer M, de Hoogh K, Di Q, Forastiere F, Kloog I. Estimation of daily PM10 concentrations in Italy (2006–2012) using finely resolved satellite data, land use variables and meteorology. Environ Int. 2017;99:234–44.CrossRefPubMed
25.
Zurück zum Zitat Greenland S, Rothman KJ. Fundamentals of epidemiologic data analysis. In: Rothman KJ, Greenland S, Lash TL, editors. Modern epidemiology. 3rd ed. Philadelphia: Lippincott Williams & Wilkins; 2008. p. 213–8. Greenland S, Rothman KJ. Fundamentals of epidemiologic data analysis. In: Rothman KJ, Greenland S, Lash TL, editors. Modern epidemiology. 3rd ed. Philadelphia: Lippincott Williams & Wilkins; 2008. p. 213–8.
26.
Zurück zum Zitat CIOMS. International ethical guidelines for health-related research involving humans. Geneva: CIOMS; 2016. p. 41–5. CIOMS. International ethical guidelines for health-related research involving humans. Geneva: CIOMS; 2016. p. 41–5.
27.
Zurück zum Zitat Armstrong B, Doll R. Environmental factors and cancer incidence and mortality in different countries, with special reference to dietary practices. Int J Cancer. 1975;15:617–31.CrossRefPubMed Armstrong B, Doll R. Environmental factors and cancer incidence and mortality in different countries, with special reference to dietary practices. Int J Cancer. 1975;15:617–31.CrossRefPubMed
28.
Zurück zum Zitat Pukkala E, Martinsen JI, Lynge E, Gunnarsdottir HK, Sparén P, Tryggvadottir L, Weiderpass E, Kjaerheim K. Occupation and cancer—follow-up of 15 million people in five Nordic countries. Acta Oncol. 2009;48:646–790.CrossRefPubMed Pukkala E, Martinsen JI, Lynge E, Gunnarsdottir HK, Sparén P, Tryggvadottir L, Weiderpass E, Kjaerheim K. Occupation and cancer—follow-up of 15 million people in five Nordic countries. Acta Oncol. 2009;48:646–790.CrossRefPubMed
29.
Zurück zum Zitat Benjamini Y. Simultaneous and selective inference: current successes and future challenges. Biom J. 2010;52:708–21.CrossRefPubMed Benjamini Y. Simultaneous and selective inference: current successes and future challenges. Biom J. 2010;52:708–21.CrossRefPubMed
32.
Zurück zum Zitat Hume D. In: Sellby-Bigge LA, editors. A treatise of human nature. Oxford: Oxford University Press; 1978. Hume D. In: Sellby-Bigge LA, editors. A treatise of human nature. Oxford: Oxford University Press; 1978.
33.
Zurück zum Zitat Daniel RM, De Stavola BL, Vansteelandt S. Commentary: the formal approach to quantitative causal inference: misguided or misrepresented? Int J Epidemiol. 2016;45:1817–29.PubMed Daniel RM, De Stavola BL, Vansteelandt S. Commentary: the formal approach to quantitative causal inference: misguided or misrepresented? Int J Epidemiol. 2016;45:1817–29.PubMed
34.
Zurück zum Zitat Lazer D, Kennedy R, King G, Vespignani A. The parable of Google Flu: traps in Big Data analysis. Science. 2014;343:1203–5.CrossRefPubMed Lazer D, Kennedy R, King G, Vespignani A. The parable of Google Flu: traps in Big Data analysis. Science. 2014;343:1203–5.CrossRefPubMed
36.
Zurück zum Zitat Bansal S, Chowell G, Simonsen L, Vespignani A, Viboud C. Big Data for infectious disease surveillance and modeling. J Infect Dis. 2016;214(suppl 4):S375–9.CrossRefPubMedPubMedCentral Bansal S, Chowell G, Simonsen L, Vespignani A, Viboud C. Big Data for infectious disease surveillance and modeling. J Infect Dis. 2016;214(suppl 4):S375–9.CrossRefPubMedPubMedCentral
37.
Zurück zum Zitat Wang X, Hripcsack G, Markatou M, Friedman C. Active computerized pharmacovigilance using natural language processing, statistics, and electronic health records: a feasibility study. J Am Med Inform Assoc. 2009;16:328–37.CrossRefPubMedPubMedCentral Wang X, Hripcsack G, Markatou M, Friedman C. Active computerized pharmacovigilance using natural language processing, statistics, and electronic health records: a feasibility study. J Am Med Inform Assoc. 2009;16:328–37.CrossRefPubMedPubMedCentral
38.
Zurück zum Zitat Sarker A, Ginn R, Nikfarjam A, O’Connor K, Smith K, Jayaraman S, Upadhaya T, Gonzalez G. Utilizing social media data for pharmacovigilance. A review. J Biomed Inform. 2015;54:202–12.CrossRefPubMedPubMedCentral Sarker A, Ginn R, Nikfarjam A, O’Connor K, Smith K, Jayaraman S, Upadhaya T, Gonzalez G. Utilizing social media data for pharmacovigilance. A review. J Biomed Inform. 2015;54:202–12.CrossRefPubMedPubMedCentral
39.
Zurück zum Zitat Cell LA, Mark RG, Stone DJ, Montgomery RA. “Big Data” in the intensive care unit—closing the data loop. Am J Respir Crit Care Med. 2013;187:1157–9.CrossRef Cell LA, Mark RG, Stone DJ, Montgomery RA. “Big Data” in the intensive care unit—closing the data loop. Am J Respir Crit Care Med. 2013;187:1157–9.CrossRef
40.
Zurück zum Zitat Cochrane A. Effectiveness and efficiency: random reflections on health services. London: The Nuffield Trust; 1972. p. 51–3. Cochrane A. Effectiveness and efficiency: random reflections on health services. London: The Nuffield Trust; 1972. p. 51–3.
41.
Zurück zum Zitat Ospina-Tascón GA, Buchele GL, Vincent JL. Multicenter, randomized, controlled trials evaluating mortality in intensive care: doomed to fail? Crit Care Med. 2008;36:1311–22.CrossRefPubMed Ospina-Tascón GA, Buchele GL, Vincent JL. Multicenter, randomized, controlled trials evaluating mortality in intensive care: doomed to fail? Crit Care Med. 2008;36:1311–22.CrossRefPubMed
43.
Zurück zum Zitat Truett J, Cornfield J, Kannel WB. A multivariate analysis of the risk of coronary heart disease in Framingham. J Chron Dis. 1967;20:511–24.CrossRefPubMed Truett J, Cornfield J, Kannel WB. A multivariate analysis of the risk of coronary heart disease in Framingham. J Chron Dis. 1967;20:511–24.CrossRefPubMed
44.
Zurück zum Zitat Hippisley-Cox J, Coupland C, Brindle P. NIHR CLAHRC West. Development and validation of QRISK3 risk prediction algorithms to estimate future risk of cardiovascular disease: prospective cohort study. BMJ. 2017;357:j2099.CrossRefPubMedPubMedCentral Hippisley-Cox J, Coupland C, Brindle P. NIHR CLAHRC West. Development and validation of QRISK3 risk prediction algorithms to estimate future risk of cardiovascular disease: prospective cohort study. BMJ. 2017;357:j2099.CrossRefPubMedPubMedCentral
45.
Zurück zum Zitat Thrift AP, Whiteman DC. Can we really predict risk of cancer? Cancer Epidemiol. 2013;37:349–52.CrossRefPubMed Thrift AP, Whiteman DC. Can we really predict risk of cancer? Cancer Epidemiol. 2013;37:349–52.CrossRefPubMed
46.
Zurück zum Zitat Authors Various. Special section: causality in epidemiology. Int J Epidemiol. 2017;45:1776–2206. Authors Various. Special section: causality in epidemiology. Int J Epidemiol. 2017;45:1776–2206.
48.
Zurück zum Zitat Ketola E, Laatikainen T, Vartiainen E. Evaluating risk for cardiovascular diseases-vain or value? How do different cardiovascular risk scores act in real life. Eur J Pub Health. 2009;20:107–12.CrossRef Ketola E, Laatikainen T, Vartiainen E. Evaluating risk for cardiovascular diseases-vain or value? How do different cardiovascular risk scores act in real life. Eur J Pub Health. 2009;20:107–12.CrossRef
49.
Zurück zum Zitat van Staa TP, Gulliford M, Ng ES-W, Goldacre B, Smeeth L. Prediction of cardiovascular risk using Framingham, ASSIGN and QRISK2: how well do they predict individual rather than population risk ? PLoS ONE. 2014;9:e106455.CrossRefPubMedPubMedCentral van Staa TP, Gulliford M, Ng ES-W, Goldacre B, Smeeth L. Prediction of cardiovascular risk using Framingham, ASSIGN and QRISK2: how well do they predict individual rather than population risk ? PLoS ONE. 2014;9:e106455.CrossRefPubMedPubMedCentral
50.
Zurück zum Zitat Janssens ACJW, van Duijn CM. Genome-based prediction of common diseases: advances and prospects. Hum Mol Genet. 2008;17:R166–73.CrossRefPubMed Janssens ACJW, van Duijn CM. Genome-based prediction of common diseases: advances and prospects. Hum Mol Genet. 2008;17:R166–73.CrossRefPubMed
51.
Zurück zum Zitat Hopper JL. Genetics for population and public health. Int J Epidemiol. 2017;45:8–11.CrossRef Hopper JL. Genetics for population and public health. Int J Epidemiol. 2017;45:8–11.CrossRef
52.
Zurück zum Zitat Stepien M, Fedirko V, Duarte-Salles T, Ferrari P, Freisling H, Trepo E, Trichopoulou A, Bamia C, Weiderpass E, Olsen A, Tjonneland A, Overvad K, Boutron-Ruault MC, Fagherazzi G, Racine A, Khun T, Kaaks R, Aleksandrova K, Boeing H, Lagiou P, et al. Prospective association of liver function biomarkers with development of hepatobiliary cancers. Cancer Epidemiol. 2016;40:179–87.CrossRefPubMed Stepien M, Fedirko V, Duarte-Salles T, Ferrari P, Freisling H, Trepo E, Trichopoulou A, Bamia C, Weiderpass E, Olsen A, Tjonneland A, Overvad K, Boutron-Ruault MC, Fagherazzi G, Racine A, Khun T, Kaaks R, Aleksandrova K, Boeing H, Lagiou P, et al. Prospective association of liver function biomarkers with development of hepatobiliary cancers. Cancer Epidemiol. 2016;40:179–87.CrossRefPubMed
53.
Zurück zum Zitat Tanniou J, van der Tweel I, Teernstra S, Roes KCB. Sub-group analyses in confirmatory trials: time to be specific about their purposes. BMC Med Res Methodol. 2016;16:20.CrossRefPubMedPubMedCentral Tanniou J, van der Tweel I, Teernstra S, Roes KCB. Sub-group analyses in confirmatory trials: time to be specific about their purposes. BMC Med Res Methodol. 2016;16:20.CrossRefPubMedPubMedCentral
56.
Zurück zum Zitat Lowy DR. The potential cost-effective precision medicine in low and middle-income countries. In: Presentation at the IARC 50th anniversary conference, Lyon, June 8, 2016. Lowy DR. The potential cost-effective precision medicine in low and middle-income countries. In: Presentation at the IARC 50th anniversary conference, Lyon, June 8, 2016.
57.
Zurück zum Zitat Salgado R, Moore H, Martens JWM, Lively T, Malik S, McDermott U, Michiels S, Moscow JA, Tejpar S, McKee T, Lacombe D. IBCD-Faculty. Societal challenges of precision medicine: bringing order to chaos. Eur J Cancer. 2017;84:325–34.CrossRefPubMed Salgado R, Moore H, Martens JWM, Lively T, Malik S, McDermott U, Michiels S, Moscow JA, Tejpar S, McKee T, Lacombe D. IBCD-Faculty. Societal challenges of precision medicine: bringing order to chaos. Eur J Cancer. 2017;84:325–34.CrossRefPubMed
60.
Zurück zum Zitat Camus A. Discours de Suède. Paris: Gallimard; 1958. p. 33. Camus A. Discours de Suède. Paris: Gallimard; 1958. p. 33.
64.
Zurück zum Zitat Chen JH, Asch SM. Machine learning and prediction in medicine-beyond the peak of inflated expectations. N Engl J Med. 2017;376:2507–9.CrossRefPubMed Chen JH, Asch SM. Machine learning and prediction in medicine-beyond the peak of inflated expectations. N Engl J Med. 2017;376:2507–9.CrossRefPubMed
67.
Zurück zum Zitat Catalyst NEJM. Physician burnout: the root of the problem and the path to solutions. Waltham MA: Catalyst.njem.org; 2017. Catalyst NEJM. Physician burnout: the root of the problem and the path to solutions. Waltham MA: Catalyst.njem.org; 2017.
68.
Zurück zum Zitat Harari YN. Homo Deus. London: Vintage; 2016. p. 427–62. Harari YN. Homo Deus. London: Vintage; 2016. p. 427–62.
69.
Zurück zum Zitat Porter R. The greatest benefit to mankind. London: Fontana Press; 1997. Porter R. The greatest benefit to mankind. London: Fontana Press; 1997.
70.
Zurück zum Zitat Wootton D. Bad medicine. Oxford: Oxford University Press; 2007. Wootton D. Bad medicine. Oxford: Oxford University Press; 2007.
71.
Zurück zum Zitat Eliot TS. Collected poems 1909–1962. London: Farber & Farber; 1963. p. 161. Eliot TS. Collected poems 1909–1962. London: Farber & Farber; 1963. p. 161.
73.
Zurück zum Zitat Rothman JK. The growing rift between epidemiologists and their data. Eur J Epidemiol. 2017;32:863–5.CrossRefPubMed Rothman JK. The growing rift between epidemiologists and their data. Eur J Epidemiol. 2017;32:863–5.CrossRefPubMed
74.
Zurück zum Zitat Saracci R, Simonato L, Acheson ED, Andersen A, Bertazzi PA, Claude J, Charnay N, Estève J, Frentzel-Beyme RR, Gardner MJ. Mortality and incidence of cancer of workers in the man made vitreous fibres producing industry: an international investigation at 13 European plants. Brit J Ind Med. 1984;41:425–36. Saracci R, Simonato L, Acheson ED, Andersen A, Bertazzi PA, Claude J, Charnay N, Estève J, Frentzel-Beyme RR, Gardner MJ. Mortality and incidence of cancer of workers in the man made vitreous fibres producing industry: an international investigation at 13 European plants. Brit J Ind Med. 1984;41:425–36.
75.
Zurück zum Zitat Baris YI, Saracci R, Simonato L, Skidmore JW, Artvinli M. Malignant mesothelioma and radiological chest abnormalities in two villages in Central Turkey, An epidemiological and environmental investigation. Lancet. 1981;1:984–7.CrossRefPubMed Baris YI, Saracci R, Simonato L, Skidmore JW, Artvinli M. Malignant mesothelioma and radiological chest abnormalities in two villages in Central Turkey, An epidemiological and environmental investigation. Lancet. 1981;1:984–7.CrossRefPubMed
77.
Zurück zum Zitat Verghese A, Shah NH. What this computer needs is a physician—humanism and artificial intelligence. JAMA. 2018;319:19–20.CrossRefPubMed Verghese A, Shah NH. What this computer needs is a physician—humanism and artificial intelligence. JAMA. 2018;319:19–20.CrossRefPubMed
78.
Zurück zum Zitat Gogniat V. La santé redéfinie par les technologies. Genève: Le Temps. 28 Jan 2018. Gogniat V. La santé redéfinie par les technologies. Genève: Le Temps. 28 Jan 2018.
79.
Zurück zum Zitat World Health Organization. Basic documents. 47th ed. Geneva: WHO; 2009. p. 1. World Health Organization. Basic documents. 47th ed. Geneva: WHO; 2009. p. 1.
82.
Zurück zum Zitat Einstein A. In: The ultimate quotable Einstein. Calaprice A, editor. Princeton: Princeton University Press; 2010. p. 409. Einstein A. In: The ultimate quotable Einstein. Calaprice A, editor. Princeton: Princeton University Press; 2010. p. 409.
Metadaten
Titel
Epidemiology in wonderland: Big Data and precision medicine
verfasst von
Rodolfo Saracci
Publikationsdatum
05.04.2018
Verlag
Springer Netherlands
Erschienen in
European Journal of Epidemiology / Ausgabe 3/2018
Print ISSN: 0393-2990
Elektronische ISSN: 1573-7284
DOI
https://doi.org/10.1007/s10654-018-0385-9

Weitere Artikel der Ausgabe 3/2018

European Journal of Epidemiology 3/2018 Zur Ausgabe