Immune biomarkers: The promises and pitfalls of personalized medicine

Nature Reviews Immunology

Volumn 15, Issue 5, 2015, Pages 323-329

  Willis, Joanna C D ^a,b   Lord, Graham M ^a,b  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AQUAPORIN 4; BCR ABL PROTEIN; BIOLOGICAL MARKER; CHIMERIC ANTIGEN RECEPTOR; INTERLEUKIN 6; INTERLEUKIN 6 RECEPTOR; MICRORNA; PROGRAMMED DEATH 1 RECEPTOR; T LYMPHOCYTE RECEPTOR; THIOPURINE METHYLTRANSFERASE; TUMOR NECROSIS FACTOR;

ACUTE LYMPHOBLASTIC LEUKEMIA; AUTOIMMUNE DISEASE; BONE MARROW TOXICITY; CHRONIC MYELOID LEUKEMIA; HUMAN; IMMUNOPATHOLOGY; PERSONALIZED MEDICINE; PHILADELPHIA 1 CHROMOSOME; PHILADELPHIA CHROMOSOME POSITIVE CELL; PRIORITY JOURNAL; REVIEW; RHEUMATOID ARTHRITIS; TRANSLATIONAL RESEARCH; TREATMENT RESPONSE; ECONOMICS; METABOLISM; PROCEDURES;

BIOLOGICAL MARKERS; HUMANS; IMMUNE SYSTEM DISEASES; INDIVIDUALIZED MEDICINE;

EID: 84928587408     PISSN: 14741733     EISSN: 14741741     Source Type: Journal    
DOI: 10.1038/nri3820     Document Type: Review

References (50)

1. Sanderson, J., Ansari, A., Marinaki, T. & Duley, J. Thiopurine methyltransferase: should it be measured before commencing thiopurine drug therapy? Ann. Clin. Biochem. 41, 294-302 (2004).
2. Goldman, J. M. & Melo, J. V. Chronic myeloid leukemia-advances in biology and new approaches to treatment. New. Engl. J. Med. 349, 1451-1464 (2003).
3. Soverini, S. et al. Drug resistance and BCR-ABL kinase domain mutations in Philadelphia chromosome-positive acute lymphoblastic leukaemia from the imatinib to the second-generation tyrosine kinase inhibitor era: the main changes are in the type of mutations, but not in the frequency of mutation involvement. Cancer 120, 1002-1009 (2014).
4. Maini, R. et al. Infliximab (chimeric anti-tumour necrosis factor-α monoclonal antibody) versus placebo in rheumatoid arthritis patients receiving concomitant methotrexate: a randomised phase III trial. ATTRACT Study group. Lancet 354, 1932-1939 (1999).
5. National institute for Health and Care Excellence. Rheumatoid Arthritis. The Management of Rheumatoid Arthritis in Adults. (NICE, 2013).
6. Plant, D., Wilson, A. G. & Barton, A. Genetic and epigenetic predictors of responsiveness to treatment in RA. Nature Rev. Rheumatol. 10, 329-337 (2014).
7. Kalos, M. et al. T cells with chimeric antigen receptors have potent antitumour effects and can establish memory in patients with advanced leukemia. Sci. Transl. Med. 3, 95ra73 (2011).
8. Geissler, E. K. & Hutchinson, J. A. Cell therapy as a strategy to minimize maintenance immunosuppression in solid organ transplant recipients. Curr. Opin. Organ. Transplant. 18, 408-415 (2013).
9. Masteller, E. L., Tang, Q. & Bluestone, J. A. Antigen-specific regulatory T cells: ex vivo expansion and therapeutic potential. Semin. Immunol. 18, 103-110 (2006).
10. Leslie, M. Regulatory T cells get their chance to shine. Science 332, 1020-1021 (2011).
11. Naidoo, J., Page, D. B. & Wolchok, J. D. Immune modulation for cancer therapy. Br. J. Cancer 111, 2214-2219 (2014).
12. Ku, G. Y. et al. Single institution experience with ipilimumab in advanced melanoma patients in the compassionate use setting: lymphocyte count after two doses correlates with survival. Cancer 116, 1767-1775 (2010).
13. Postow, M. A. et al. Evaluation of the absolute lymphocyte count as a biomarker for melanoma patients treated with the commercially available dose of ipilimumab (3mg/kg). J. Clin. Oncol. 30, 8575 (2012).
14. Topalian, S. L. et al. Safety, activity, and immune correlates of anti-PD-1 antibody in cancer. N. Engl. J. Med. 366, 2443-2453 (2012).
15. Goris, A. & Liston, A. The immunogenetic architecture of autoimmune disease. Cold Spring Harb. Perspect. Biol. 4, a007260 (2012).
16. Hartono, C., Muthukumar, T. & Suthanthiran, M. Noninvasive diagnosis of acute rejection of renal allografts. Curr. Opin. Organ. Transplant. 15, 35-41 (2010).
17. Zhang, B. et al. Proteogenomic characterisation of human colon and rectal cancer. Nature 513, 382-387 (2014).
18. O'Connell, R. M., Rao, D. S., Chaudhuri, A. A. & Baltimore, D. Physiological and pathological roles for microRNAs in the immune system. Nature Rev. Immunol. 10, 111-122 (2010).
19. Pauley, K. M., Cha, S. & Chan, E. K. MicroRNA in autoimmunity and autoimmune diseases. J. Autoimmun. 32, 189-194 (2009).
20. Mitchell, P. S. et al. Circulating microRNAs as stable blood-based markers for cancer detection. Proc. Natl. Acad. Sci. USA 105, 10513-10518 (2008).
21. Kroh, E. M., Parkin, R. K., Mitchell, P. S. & Tewari, M. Analysis of circulating microRNA biomarkers in plasma and serum using quantitative reverse transcription-PCR. Methods 50, 298-301 (2010).
22. Ma, Y. et al. Genome-wide sequencing of cellular microRNAs identifies a combinatorial expression signature diagnostic of sepsis. PLoS ONE 8, e75918 (2013).
23. Buffie, C. G. et al. Precision microbiome reconstruction restores bile acid mediated resistance to Clostridium difficile. Nature 517, 205-208 (2015).
24. Taur, Y. et al. The effects of intestinal tract bacterial diversity on mortality following allogeneic hematopoietic stem cell transplantation. Blood 124, 1174-1182 (2014).
25. Roedder, S., Gao, X. & Sarwal, M. The pits and pearls in translating operational tolerance biomarkers into clinical practice. Curr. Opin. Organ. Transplant. 17, 655-662 (2012).
26. Sagoo, P. et al. Development of a cross-platform biomarker signature to detect renal transplant tolerance in humans. J. Clin. Invest. 120, 1848-1861 (2010).
27. Sattlecker, M. et al. Alzheimer's disease biomarker discovery using SOMAscan multiplexed protein technology. Alzheimers Dement. 10, 724-734 (2014).
28. Mehan, M. R. et al. Validation of a blood protein signature for non-small cell lung cancer. Clin. Proteom. 11, 32 (2014).
29. Menni, C. et al. Circulating proteomic signatures of chronological age. J. Gerontol. A. Biol. Sci. Med. Sci. http://dx.doi.org/10.1093/gerona/glu121 (2014).
30. Hill, A. B. The environment and disease: association or causation? Proc. R. Soc. Med. 58, 295-300 (1965).
31. Tsoi, L. C. et al. Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nature Genet. 44, 1341-1348 (2012).
32. Papp, K. A. et al. Brodalumab, an interleukin-17-receptor antibody for psoriasis. N. Engl. J. Med. 366, 1181-1189 (2012).
33. Lennon, V. A., Kryzer, T. J., Pittock, S. J., Verkman, A. S. & Hinson, S. R. IgG marker of opticspinal multiple sclerosis binds to the aquaporin-4 water channel. J. Exp. Med. 202, 473-477 (2005).
34. Kitley, J. et al. Prognostic factors and disease course in aquaporin-4 antibody-positive patients with neuromyelitis optica spectrum disorder from the United Kingdom and Japan. Brain 135, 1834-1849 (2012).
35. Lee, D. W. et al. Current concepts in the diagnosis and management of cytokine release syndrome. Blood 124, 188-195 (2014).
36. Kennedy, G. A. et al. Addition of interleukin-6 inhibition to standard graft-versus host disease prophylaxis after allogeneic stem cell transplantation: a phase 1/2 trial. Lancet Oncol. 15, 1451-1459 (2014).
37. Lo, D. J., Kaplan, B. & Kirk, A. Biomarkers for kidney transplant rejection. Nature Rev. Neph. 10, 215-225 (2014).
38. Narang, V. et al. Systems immunology: a survey of modelling formalisms, applications and simulation tools. Immunol. Res. 53, 251-265 (2012).
39. Villanova, F. et al. Integration of lyoplate based flow cytometry and computational analysis for standardized immunological biomarker discovery. PLoS ONE 8, e65485 (2013).
40. Dendrou, C. A., Bell, J. I. & Fugger, L. Weighing in on autoimmune disease: big data tip the scale. Nature Med. 19, 138-139 (2013).
41. EMBL-European Bioinformatics Institute. EMBL-EBI Annual Scientific Report 2013. (EMBL-EBI, 2013).
42. Pepe, M. S., Janes, H. & Li, C. I. Net risk reclassification p values: valid or misleading? J. Natl. Cancer Inst. 106, dju041 (2014).
43. Pepe, M. S., Feng, Z., Janes, H., Bossuyt, P. M, & Potter, J. D. Pivotal evaluation of the accuracy of a biomarker used for classification or prediction: standards for study design. J. Natl Cancer Inst. 100, 1432-1438 (2008).
44. Fellner, C. Ipilimumab (Yervoy) prolongs survival in advanced melanoma. P. T. 37, 503-511 (2012).
45. Roep, B. O. & Peakman, M. Surrogate end points in the design of immunotherapy trials: emerging lessons from type 1 diabetes. Nature Rev. Immunol. 10, 145-152 (2010).
46. U.S. Food and Drug Adminstration. Innovation or stagnation? Challenge and opportunity on the critical path to new medical products. U.S. Department of Health and Human Services [online], http://www.fda. gov/oc/initiatives/criticalpath/qhitepaper.html (2004).
47. Organisation for Economic Co-operation and Development. Policy Issues for the Development and Use of Biomarkers in Health. OECD Directorate for Science, Technology and Industry (DSTI) [online], http://www.oecd.org/health/biotech/49023036.pdf (2011).
48. Greenbaum, D., Sboner, A., Mu, X. J. & Gerstein, M. Genomics and privacy: implications of the new reality of closed data for the field. PLoS Comput. Biol. 7, e1002278 (2011).
49. Sharp, R. R. Downsizing genomic medicine: approaching the ethical complexity of whole-genome sequencing by starting small. Genet. Med. 13, 191-194 (2011).
50. Biomarkers Definitions Working Group. Biomarkers and surrogate endpoints: preferred definitions and conceptual framework. Clin. Pharmacol. Ther. 69, 89-95 (2001).