How precision medicine and screening with big data could increase overdiagnosis

The BMJ

Volumn 366, Issue , 2019, Pages

  Vogt, Henrik ^a,b   Green, Sara ^c   Ekstrøm, Claus Thorn ^c   Brodersen, John ^c,d  

^a UNIVERSITY OF OSLO   (Norway)

^b NORWEGIAN UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Norway)

^c UNIVERSITY OF COPENHAGEN   (Denmark)

^d Primary Health Care Research Unit   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; HEMOGLOBIN A1C; MERCURY; PROTEOME; RNA; VITAMIN D;

ALGORITHM; ARTICLE; ATHEROSCLEROSIS; ATRIAL FIBRILLATION; BIG DATA; CANCER STAGING; CARDIOVASCULAR RISK; CLINICAL DECISION MAKING; COMPLETE HEART BLOCK; CULTURAL FACTOR; DIABETES MELLITUS; DIAGNOSTIC ACCURACY; DIAGNOSTIC PROCEDURE; DIAGNOSTIC TEST ACCURACY STUDY; DIAGNOSTIC VALUE; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; DISEASE MARKER; DUAL ENERGY X RAY ABSORPTIOMETRY; DYSLIPIDEMIA; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; ELECTRONIC HEALTH RECORD; ENVIRONMENTAL EXPOSURE; GENE MUTATION; GENOMICS; GENOTYPE; GOVERNMENT REGULATION; HEAVY METAL BLOOD LEVEL; HEMOCHROMATOSIS; HIGH RISK POPULATION; HUMAN; IMPAIRED GLUCOSE TOLERANCE; INFLAMMATION; INFORMATION PROCESSING; INTERNET; KNOWLEDGE; LOW RISK POPULATION; LYME DISEASE; LYMPHOMA; MACHINE LEARNING; MEDICAL PROFESSION; MEDICAL RESEARCH; MERCURIALISM; METABOLITE; METABOLOME; METABOLOMICS; MICROBIAL GENOME; MICROBIAL IDENTIFICATION; MICROBIOME; MONOCLONAL IMMUNOGLOBULINEMIA; MORBIDITY; MORTALITY; MYELOMA; NEOPLASM; NONALCOHOLIC FATTY LIVER; NUTRITIONAL STATUS; OVER DIAGNOSIS; PATIENT MONITORING; PERSONALIZED MEDICINE; PHENOTYPE; PRIMARY BILIARY CIRRHOSIS; PRIORITY JOURNAL; PROGNOSIS; PROPHYLAXIS; PROTEOMICS; RELIABILITY; RISK ASSESSMENT; RISK FACTOR; RISK REDUCTION; SCREENING; SELF MONITORING; SENSITIVITY AND SPECIFICITY; SHARED DECISION MAKING; SLEEP DISORDERED BREATHING; SOCIAL MEDIA; TRANSCRIPTOMICS; VITAMIN BLOOD LEVEL; VITAMIN D DEFICIENCY; WHOLE BODY MRI; WHOLE GENOME SEQUENCING; WORLD HEALTH ORGANIZATION; XANTHINURIA; HEALTH SERVICE;

BIG DATA; HUMANS; MEDICAL OVERUSE; PRECISION MEDICINE;

EID: 85072162046     PISSN: 09598146     EISSN: 17561833     Source Type: Journal    
DOI: 10.1136/bmj.l5270     Document Type: Article

References (29)

1. Shendure J, Findlay GM, SnyderMW. Genomic medicine-progress, pitfalls, and promise. Cell 2019;177:45-57. 10.1016/j.cell.2019.02.003 30901547
2. Torkamani A, Andersen KG, Steinhubl SR, Topol EJ. High-definition medicine. Cell 2017;170:828-43. 10.1016/j.cell.2017.08.007 28841416
3. Alyass A, Turcotte M, Meyre D. From big data analysis to personalized medicine for all: challenges and opportunities. BMC Med Genomics 2015;8:33. 10.1186/s12920-015-0108-y 26112054
4. Price ND, Magis AT, Earls JC, A wellness study of 108 individuals using personal, dense, dynamic data clouds. Nat Biotechnol 2017;35:747-56. 10.1038/nbt.3870 28714965
5. Perkins BA, Caskey CT, Brar P, Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults. Proc Natl Acad Sci U S A 2018;115:3686-91. 10.1073/pnas.1706096114 29555771
6. Schössler-Fiorenza Rose SM, Contrepois K, Moneghetti KJ, A longitudinal big data approach for precision health. Nat Med 2019;25:792-804. 10.1038/s41591-019-0414-6 31068711
7. Few S. Big data, big dupe: A little book about a big bunch of nonsense. Analytics Press, 2018: 96.
8. Koshy AN, Sajeev JK, Nerlekar N, Smart watches for heart rate assessment in atrial arrhythmias. Int J Cardiol 2018;266:124-7. 10.1016/j.ijcard.2018.02.073 29887428
9. Diamandis EP. The hundred person wellness project and Googles baseline study: medical revolution or unnecessary and potentially harmful over-Testing?BMC Med 2015;13:5. 10.1186/s12916-014-0239-6 25575898
10. Hofmann B, Welch HG. New diagnostic tests: more harm than good. BMJ 2017;358:j3314. 10.1136/bmj.j3314 28720607
11. Vogt H, Hofmann B, Getz L. The new holism: P4 systems medicine and the medicalization of health and life itself. Med Health Care Philos 2016;19:307-23. 10.1007/s11019-016-9683-8 26821201
12. Vogt H, Green S, Brodersen J. Precision medicine in the clouds. Nat Biotechnol 2018;36:678-80. 10.1038/nbt.4210 30080826
13. Welch HG, Schwartz L, Woloshin S. Overdiagnosed: making people sick in the pursuit of health. Beacon Press, 2011.
14. Brodersen J, Schwartz LM, Heneghan C, OSullivan JW, Aronson JK, Woloshin S. Overdiagnosis: what it is and what it isnt. BMJ Evid Based Med 2018;23:1-3. 10.1136/ebmed-2017-110886 29367314
15. Mega JL, Stitziel NO, Smith JG, Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy: An analysis of primary and secondary prevention trials. Lancet 2015;385:2264-71. 10.1016/S0140-6736(14)61730-X 25748612
16. Weng SF, Reps J, Kai J, Garibaldi JM, Qureshi N. Can machine-learning improve cardiovascular risk prediction using routine clinical data?PLoS One 2017;12:e0174944. 10.1371/journal.pone.0174944 28376093
17. Khera AV, Chaffin M, Aragam KG, Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations. Nat Genet 2018;50:1219-24. 10.1038/s41588-018-0183-z 30104762
18. Pathirana T, Clark J, Moynihan R. Mapping the drivers of overdiagnosis to potential solutions. BMJ 2017;358:j3879. 10.1136/bmj.j3879 28814436
19. Waldo AL, Camm AJ. Atrial fibrillation: Atrial high-rate events (AHRES): look and you will find-Then what?Circulation 2017;136:1795-7. 10.1161/CIRCULATIONAHA.117.030705 28851730
20. Ransohoff DF, Feinstein AR. Problems of spectrum and bias in evaluating the efficacy of diagnostic tests. N Engl J Med 1978;299:926-30. 10.1056/NEJM197810262991705 692598
21. Firth WJ. Chaos-predicting the unpredictable. BMJ 1991;303:1565-8. 10.1136/bmj.303.6817.1565 1773173
22. Nebert DW, Zhang G. Personalized medicine: Temper expectations. Science 2012;337:910, author reply 910-1. 10.1126/science.337.6097.910-A 22923560
23. Smith GD. Epidemiology, epigenetics and the Gloomy Prospect: embracing randomness in population health research and practice. Int J Epidemiol 2011;40:537-62. 10.1093/ije/dyr117 21807641
24. Fortmann-Roe S. Understanding the bias-variance tradeoff. 2012. http://scott.fortmannroe. com/docs/BiasVariance.html
25. Topol E. The patient will see you now. Basic Books, 2015.
26. Sharon T. The Googlization of health research: from disruptive innovation to disruptive ethics. Per Med 2016;13:563-74. 10.2217/pme-2016-0057 29754546
27. Johansson M, Jorgensen KJ, Getz L, Moynihan R. "Informed choice" in a time of too much medicine-no panacea for ethical difficulties. BMJ 2016;353:i2230. 10.1136/bmj.i2230 27160274
28. Wilson JMG, Jungner G. Principles and practice of screening for disease. WHO, 1968.
29. Xu S, Jayaraman A, Rogers JA. Skin sensors are the future of health care. Nature 2019;571:319-21. 10.1038/d41586-019-02143-0 31316200