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The side effects of translational omics: overtesting, overdiagnosis, overtreatment

  • Eleftherios P. Diamandis EMAIL logo and Michelle Li
Published/Copyright: October 7, 2015
Clinical Chemistry and Laboratory Medicine (CCLM)
From the journal Clinical Chemistry and Laboratory Medicine (CCLM) Volume 54 Issue 3

Abstract

High-throughput technologies such as next-generation genomics, transcriptomics and proteomics are capable of generating massive amounts of data quickly, and at relatively low costs. It is tempting to use this data for various medical applications including preclinical disease detection and for prediction of disease predisposition. Pilot projects, initiated by various research groups and Google, are currently underway, but results with not be available for a few years. We here summarize some possible difficulties with these approaches, by using examples from already tried cancer and other screening programs. Population screening, especially with multiparametric algorithms, will identify at least some false positive parameters and screening programs will identify abnormal results in otherwise healthy individuals. Whole genome sequencing will identify genetic changes of unknown significance and may not predict accurately future disease predisposition if the disease is also influenced by environmental factors. In screening programs, if the disease is rare, the positive predictive value of the test will be low, even if the test has excellent sensitivity and specificity. False positive results may require invasive procedures to delineate. Furthermore, screening programs are not effective if the cancer grows quickly, and will identify indolent forms of the disease with slow-growing tumors. It has also been recently shown that for some cancers, more intensive and radical treatments do not usually lead to better clinical outcomes. We conclude that new omics testing technologies should avoid overdiagnosis and overtreatment and need to be evaluated for overall clinical benefit before introduction to the clinic.

Keywords: escape from cure; high-throughput omics; incidental findings; indolent disease; overdiagnosis; overtesting; overtreatment; side effects
Corresponding author: Eleftherios P. Diamandis, MD, PhD, FRCP(C), FRSC, Head of Clinical Biochemistry, Mount Sinai Hospital and University Health Network, 60 Murray St. Box 32, Floor 6, Rm L6-201, Toronto, M5T 3L9 ON, Canada, Phone: +(416) 586-8443, E-mail: ; Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, ON, Canada; Department of Clinical Biochemistry, University Health Network, Toronto, ON, Canada; and Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada

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Received: 2015-8-6
Accepted: 2015-8-28
Published Online: 2015-10-7
Published in Print: 2016-3-1

©2016 by De Gruyter

Articles in the same Issue

  1. Frontmatter
  2. Editorial
  3. The way of prostate cancer diagnostics
  4. Review
  5. Statistical methods used in the calculation of geriatric reference intervals: a systematic review
  6. Opinion Paper
  7. The side effects of translational omics: overtesting, overdiagnosis, overtreatment
  8. Genetics and Molecular Diagnostics
  9. Rapid detection of non-deletional mutations causing α-thalassemia by multicolor melting curve analysis
  10. General Clinical Chemistry and Laboratory Medicine
  11. Patient pools and the use of “patient means” are valuable tools in quality control illustrated by a bone-specific alkaline phosphatase assay
  12. Long-term stability of glucose: 96-h study using Terumo Glycaemia tubes
  13. Glucose is stable during prolonged storage in un-centrifuged Greiner tubes with liquid citrate buffer, but not in serum and NaF/KOx tubes
  14. Croatian laboratories have a good knowledge of the proper detection and management of hemolyzed, icteric and lipemic samples
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  16. Comparing the effect of isotopically labeled or structural analog internal standards on the performance of a LC-MS/MS method to determine ciclosporin A, everolimus, sirolimus and tacrolimus in whole blood
  17. Relationship between matrix metalloproteinase-9 and oxidative stress in drug-free male schizophrenia: a case control study
  18. Comparison of functional fibrinogen (FF/CFF) and FIBTEM in surgical patients – a retrospective study
  19. Reference Values and Biological Variations
  20. Assessment of serum free light chain levels in healthy adults immediately after marathon running
  21. Pharmacokinetics of a novel dosing regimen of oral melatonin in critically ill patients
  22. Cancer Diagnostics
  23. An epidemiology-based model as a tool to monitor the outbreak of inappropriateness in tumor marker requests: a national scale study
  24. Comparative analysis of prostate cancer specific biomarkers PCA3 and ERG in whole urine, urinary sediments and exosomes
  25. Infectious Diseases
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  27. Evaluating the use of procalcitonin in an asymptomatic, HIV-infected antiretroviral therapy-naïve, South African cohort
  28. Diabetes
  29. Early prediction of gestational diabetes: a practical model combining clinical and biochemical markers
  30. Letters to the Editors
  31. Highly-trained dogs’ olfactory system for detecting biochemical recurrence following radical prostatectomy
  32. More on the accuracy of the Architect enzymatic assay for hemoglobin A1c and its traceability to the IFCC reference system
  33. Assessing quality from an accuracy-based HbA1c proficiency survey
  34. HbG-Honolulu interferes with some cation-exchange HPLC HbA1c assays
  35. Between analyser differences in chloride measurements and thus anion gap cause different interpretations of the acid-base balance
  36. Non-albumininuric proteinuria: a urinary tubular marker in the diagnosis of diabetic kidney disease
  37. International Normalized Ratio (INR) testing: analytical and clinical performance of four point-of-care devices versus central laboratory instrumentation analysis
  38. Genetic screening of the makorin ring finger 3 gene in girls with idiopathic central precocious puberty
  39. Practical approach for medical validation of therapeutic drug monitoring results
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https://doi.org/10.1515/cclm-2015-0762
Keywords for this article
escape from cure; high-throughput omics; incidental findings; indolent disease; overdiagnosis; overtesting; overtreatment; side effects

Articles in the same Issue

  1. Frontmatter
  2. Editorial
  3. The way of prostate cancer diagnostics
  4. Review
  5. Statistical methods used in the calculation of geriatric reference intervals: a systematic review
  6. Opinion Paper
  7. The side effects of translational omics: overtesting, overdiagnosis, overtreatment
  8. Genetics and Molecular Diagnostics
  9. Rapid detection of non-deletional mutations causing α-thalassemia by multicolor melting curve analysis
  10. General Clinical Chemistry and Laboratory Medicine
  11. Patient pools and the use of “patient means” are valuable tools in quality control illustrated by a bone-specific alkaline phosphatase assay
  12. Long-term stability of glucose: 96-h study using Terumo Glycaemia tubes
  13. Glucose is stable during prolonged storage in un-centrifuged Greiner tubes with liquid citrate buffer, but not in serum and NaF/KOx tubes
  14. Croatian laboratories have a good knowledge of the proper detection and management of hemolyzed, icteric and lipemic samples
  15. Fetal exposure to ethanol: relationship between ethyl glucuronide in maternal hair during pregnancy and ethyl glucuronide in neonatal meconium
  16. Comparing the effect of isotopically labeled or structural analog internal standards on the performance of a LC-MS/MS method to determine ciclosporin A, everolimus, sirolimus and tacrolimus in whole blood
  17. Relationship between matrix metalloproteinase-9 and oxidative stress in drug-free male schizophrenia: a case control study
  18. Comparison of functional fibrinogen (FF/CFF) and FIBTEM in surgical patients – a retrospective study
  19. Reference Values and Biological Variations
  20. Assessment of serum free light chain levels in healthy adults immediately after marathon running
  21. Pharmacokinetics of a novel dosing regimen of oral melatonin in critically ill patients
  22. Cancer Diagnostics
  23. An epidemiology-based model as a tool to monitor the outbreak of inappropriateness in tumor marker requests: a national scale study
  24. Comparative analysis of prostate cancer specific biomarkers PCA3 and ERG in whole urine, urinary sediments and exosomes
  25. Infectious Diseases
  26. Comparative evaluation of the Aptima HIV-1 Quant Dx assay and COBAS TaqMan HIV-1 v2.0 assay using the Roche High Pure System for the quantification of HIV-1 RNA in plasma
  27. Evaluating the use of procalcitonin in an asymptomatic, HIV-infected antiretroviral therapy-naïve, South African cohort
  28. Diabetes
  29. Early prediction of gestational diabetes: a practical model combining clinical and biochemical markers
  30. Letters to the Editors
  31. Highly-trained dogs’ olfactory system for detecting biochemical recurrence following radical prostatectomy
  32. More on the accuracy of the Architect enzymatic assay for hemoglobin A1c and its traceability to the IFCC reference system
  33. Assessing quality from an accuracy-based HbA1c proficiency survey
  34. HbG-Honolulu interferes with some cation-exchange HPLC HbA1c assays
  35. Between analyser differences in chloride measurements and thus anion gap cause different interpretations of the acid-base balance
  36. Non-albumininuric proteinuria: a urinary tubular marker in the diagnosis of diabetic kidney disease
  37. International Normalized Ratio (INR) testing: analytical and clinical performance of four point-of-care devices versus central laboratory instrumentation analysis
  38. Genetic screening of the makorin ring finger 3 gene in girls with idiopathic central precocious puberty
  39. Practical approach for medical validation of therapeutic drug monitoring results
  40. Marked elevation of procalcitonin in a patient with a drug related infusion reaction to rituximab
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