Biological Markers as a Novel Approach in Clinical Diagnosis and Management of Diseases
The adoption and use of biological marker also known as biomarkers in clinical studies and management of disease conditions spans over 40 years. Biological marker are measurable biochemical or molecular alterations that can be adopted as indicator of normal biological or responses to the action of pathogen or pharmacological responses to a therapeutic intervention. Molecules, macro and micro molecules, metabolites, and chemical compounds from the body adopted for use in predicting and monitoring health outcomes are constant from individual to another which qualify them as standard biomarker parameters. Use of biological markers spans clinical screening of an underlying cause of disease, prognosis, predisposition to a disease condition and predicting outcomes of treatment. In the environment, biological markers can be applied to determine the effects of xenobiotic chemicals and reaction effect on living cell. A good marker while being specific, should be easy to measure, cheap, provide correct measurement and outcomes. The objective of this review paper is highlight the different types of biological markers and areas where they are applicable.
2. Albert MA, "Biomarkers and heart disease". J Clin Sleep Med., 2011, 7(5): 9-11. https://doi.org/10.5664/JCSM.1342
3. Allegra CJ, Jessup JM, Somerfield MR, Hamilton SR, Hammond EH, Hayes DF, et al., "American Society of Clinical Oncology provisional clinical opinion: Testing for KRAS gene mutations in patients with metastatic colorectal carcinoma to predict response to anti-epidermal growth factor receptor monoclonal antibody therapy". Journal of Clinical Oncology, 2009, 27(12): 2091-2096. https://doi.org/10.1200/JCO.2009.21.9170
4. Baselga J, Cortés J, Im SA, "Biomarker analyses in CLEOPATRA: A phase III, placebo-controlled study of pertuzumab in human epidermal growth factor receptor 2-positive, first-line metastatic breast cancer". J Clin Oncol, 2014, 32: 3753-3761. https://doi.org/10.1200/JCO.2013.54.5384
5. Beaton GH, Burema J, Ritenbaugh C, "Errors in the interpretation of dietary assessments". American Journal of Clinical Nutrition, 1997, 65: 1100S-7S. https://doi.org/10.1093/ajcn/65.4.1100S
6. BEST (Biomarkers, EndpointS, and other Tools) Resource. Diagnostic Biomarker. National Center for Biotechnology Information, U.S. National Library of Medicine, 2016. https://www.ncbi.nlm.nih.gov/books/NBK402285/
7. Bingham SA, Gill C, Welch A, Cassidy A, Runswick SA, Oakes S, et al., "Validation of dietary assessment methods in the UK arm of EPIC using weighed records, and 24-hour urinary nitrogen and potassium and serum vitamin C and carotenoids as biomarkers". International Journal of Epidemiology, 1997, 26(Suppl. 1): S137-51. https://doi.org/10.1093/ije/26.suppl_1.S137
8. Bingham SA, Goldberg GR, Coward WA, Prentice AM, Cummings JH, "The effect of exercise and improved physical fitness on basal metabolic rate". British Journal of Nutrition, 1989, 61: 155-73. https://doi.org/10.1079/BJN19890106
9. Biomarkers Definitions Working Group, Biomarkers and surrogate endpoints: Preferred definitions and conceptual framework. Clinical Pharmacology and Therapeutics, 2001, 69(3): 89-95. https://doi.org/10.1067/mcp.2001.113989
10. Calzone KA, "Genetic Biomarkers of Cancer Risk". Seminars in Oncology Nursing, 2012, 28 (2): 122-128. https://doi.org/10.1016/j.soncn.2012.03.007
11. Eklund EA, Freeze HH, "The congenital disorders of glycosylation: a multifaceted group of syndromes". NeuroRx, 2006, 3: 254-263. https://doi.org/10.1016/j.nurx.2006.01.012
12. Eknoyan G, Hostetter T, Bakris GL, Hebert L, Levey AS, Parving HH, et al., "Proteinuria and other markers of chronic kidney disease: a position statement of the National Kidney Foundation (NKF) and the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)". American Journal of Kidney Disease, 2003, 42: 617-622. https://doi.org/10.1016/S0272-6386(03)00826-6
13. Farrell PM, Rosenstein BJ, White TB, Accurso FJ, Castellani C, Cutting GR, et al., "Cystic Fibrosis Foundation. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report". J Pediatr, 2008, 153(2): S4-S14. https://doi.org/10.1016/j.jpeds.2008.05.005
14. Genin E, Hannequin D, Wallon D, Sleegers K, Hiltunen M, Combarros O, et al., "APOE and Alzheimer disease: a major gene with semi-dominant inheritance". Mol Psychiatry, 2011, 16(9): 903-907. https://doi.org/10.1038/mp.2011.52
15. Gorman D, Sochett E, Daneman D, "The natural history of microalbuminuria in adolescents with type 1 diabetes". Journal of Pediatrics, 1999, 134: 333-337. https://doi.org/10.1016/S0022-3476(99)70459-2
16. Greenland P, Alpert JS, Beller GA, Benjamin EJ, Budoff MJ, Fayad ZA, et al., ACCF/AHA guideline for assessment of cardiovascular risk in asymptomatic adults: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines Circulation, 2010, 21; 122 (25): 2748-64. https://doi.org/10.1161/CIR.0b013e3182051bab
17. Hammond ME, Hayes DF, Dowsett M, Allred DC, Hagerty KL, Badve S, et al., "American Society of Clinical Oncology/College of American Pathologists guideline recommendations for immunohistochemical testing of estrogen and progesterone receptors in breast cancer". Journal of Clinical Oncology, 2010, 28(16): 2784-2795. https://doi.org/10.1200/JCO.2009.25.6529
18. Hara M, Yanagihara T, Takada T, Itoh M, Matsuno M, Yamamoto T, et al., "Urinary excretion of podocytes reflects disease activity in children with glomerulonephritis". American Journal of Nephrology, 1998, 18: 35-41. https://doi.org/10.1159/000013302
19. Hulka BS, "Epidemiological studies using biological biomarkers: Issues for epidemiologists". Cancer epidemiology, biomarkers and prevention, 1991, 1: 13-19.
20. Hunsicker LG, Adler S, Caggiula A, England BK, Greene T, Kusek JW, et al., "Predictors of the progression of renal disease in the modification of diet in renal disease study". Kidney International, 1997, 51: 1908-1919. https://doi.org/10.1038/ki.1997.260
21. Institute of Medicine IOM, Implementing Colorectal Cancer Screening: Workshop Summary. Washington, DC: The National Academies Press, 2008.
22. Institute of Medicine IOM, Evaluation of Biomarkers and Surrogate Endpoints in Chronic Disease. Washington, DC: The National Academies Press, 2010.
23. Isaksson B, "Urinary nitrogen output as a validity test in dietary surveys". American Journal of Clinical Nutrition, 1980, 33: 4-5. https://doi.org/10.1093/ajcn/33.1.4
24. Karsdal MA, Henriksen K, Leeming DJ, Mitchell P, Duffin K, Barascuk N, et al., "Biochemical markers and the FDA Critical Path: how biomarkers may contribute to the understanding of pathophysiology and provide unique and necessary tools for drug development". Biomarkers, 2009, 14: 181e202. https://doi.org/10.1080/13547500902777608
25. Konstantinos S, Konstantinos P, Metcalfe PD, Svensson D, Weatherall J, Brown G, "Distinguishing prognostic and predictive biomarkers: an information theoretic approach". Bioinformatics, 2018, 34(19): 3365-3376. https://doi.org/10.1093/bioinformatics/bty357
26. Kriz W, Lemley KV, "The role of the podocyte in glomerulosclerosis". Current Opinions in Nephrology Hypertension, 1999, 8: 489-497. https://doi.org/10.1097/00041552-199907000-00014
27. Kujovich JL, "Factor V. Leiden thrombophilia". Genetic Medical, 2011, 13 (1):1-16. https://doi.org/10.1097/GIM.0b013e3181faa0f2
28. Leiserowitz GS, Lebrilla C, Miyamoto S, et al., "Glycomics analysis of serum: a potential new biomarker for ovarian cancer?" International Journal of Gynecological Cancer, 2007, 18: 470-475. https://doi.org/10.1111/j.1525-1438.2007.01028.x
29. Lemley KV, Lafayette RA, Safai M, Derby G, Blouch K, Squarer A, et al., "Podocytopenia and disease severity in IgA nephropathy". Kidney International, 2002, 61:1475-1485. https://doi.org/10.1046/j.1523-1755.2002.00269.x
30. McGuire WL, Chamness GC, Costlow ME, Richert NJ, "Steroids and human breast cancer". Journal of Steroid Biochemistry, 1975, 6(5): 723-727. https://doi.org/10.1016/0022-4731(75)90059-X
31. Mogensen CE, Christensen CK, "Predicting diabetic nephropathy in insulin-dependent patients". The New England Journal of Medicine, 1984, 311: 89-93. https://doi.org/10.1056/NEJM198407123110204
32. Nielsen J, Welinder H, Horstmann V, Skerfving S, "Allergy to methyltetrahydrophthalic anhydride in epoxy resin workers". Br J Ind Med, 1992, 49: 769-775. https://doi.org/10.1136/oem.49.11.769
33. NIH Biomarkers Definitions Working Group, "Biomarkers and surrogate endpoints: Preferred definitions and conceptual framework". Clinical Pharmacology Therapy, 2001, 69: 89-95. https://doi.org/10.1067/mcp.2001.113989
34. Oldenhuis CN, Oosting SF, Gietema JA, de Vries EG, "Prognostic versus predictive value of biomarkers in oncology". Eur J Cancer, 2008, 44(7): 946-953. https://doi.org/10.1016/j.ejca.2008.03.006
35. Patari A, Forsblom C, Havana M, Taipale H, Groop PH, Holthofer H, "Nephrinuria in diabetic nephropathy of type 1 diabetes". Diabetes, 2003, 52: 2969-2974. https://doi.org/10.2337/diabetes.52.12.2969
36. Plakke T, Berkel J, Beynen AC, Hermus RJJ, Katan MB, "Relationship between the fatty acid composition of the diet and that of the subcutaneous adipose tissue in individual human subjects". Human Nutrition Applied Nutrition, 1983, 37: 365-372
37. Ruberg SJ, Shen L, "Personalized medicine: four perspectives of tailored medicine". Stat. Biopharm. Res., 2015, 7: 214-229. https://doi.org/10.1080/19466315.2015.1059354
38. Rudberg S, Dahlquist G, "Determinants of progression of microalbuminuria in adolescents with IDDM". Diabetes Care, 1996, 19:369-371. https://doi.org/10.2337/diacare.19.4.369
39. Ruggenenti P, Perna A, Mosconi L, Pisoni R, Remuzzi G, "Urinary protein excretion rate is the best independent predictor of ESRF in non-diabetic proteinuric chronic nephropathies". Kidney International, 1998, 53: 1209-1216 https://doi.org/10.1046/j.1523-1755.1998.00874.x
40. Sahu P, Pinkalwar N, Dubey RD, Paroha S, Chatterjee S, Chatterjee T, "Biomarkers: An Emerging Tool for Diagnosis of a Disease and Drug Development". Asian J Res Pharm Sci., 2011, 1: 9-16.
41. Scott DW, Wright GW, Williams PM, Lih CJ, Walsh W, Jaffe ES, et al., "Determining cell-of-origin subtypes of diffuse large B-cell lymphoma using gene expression in formalin-fixed paraffin-embedded tissue". Blood, 2014; 123(8):1214-7. https://doi.org/10.1182/blood-2013-11-536433
42. Shaw AT, Yeap BY, Solomon BJ, Riely GJ, Gainor J, Engelman JA, et al., "Effect of crizotinib on overall survival in patients with advanced non-small-cell lung cancer harbouring ALK gene rearrangement: A retrospective analysis". Lancet Oncology, 2010, 12(11):1004-1012. https://doi.org/10.1016/S1470-2045(11)70232-7
43. Smedman AEM, Gustafsson IB, Berglund LGTM, Vessby BOH, "Pentadecanoic acid in serum as a marker for intake of milk fat: relations between intake of milk fat and metabolic risk factors". American Journal of Clinical Nutrition, 1999, 69: 22-29. https://doi.org/10.1093/ajcn/69.1.22
44. Strimbu K, Tavel JA, "What are Biomarkers? Current Opinion in HIV AIDS", 2010, 5(6): 463-466. https://doi.org/10.1097/COH.0b013e32833ed177
45. Struewing JP, Hartge P, Wacholder S, Baker SM, Berlin M, McAdams M, et al., "The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews". N Engl J Med., 1997, 15; 336(20):1401-1408. https://doi.org/10.1056/NEJM199705153362001
46. Szeto C, Lai KB, Chow KM, Szeto CY, Yip TW, Woo KS, et al., "Messenger RNA expression of glomerular podocyte markers in the urinary sediment of acquired proteinuric diseases". Clin Chim Acta, 2005, 361: 182-190. https://doi.org/10.1016/j.cccn.2005.05.016
47. Van Staveren WA, de Boer JO, Burema J, "Validity and reproducibility of a dietary history method estimating the usual food intake during one month". American Journal of Clinical Nutrition, 1985, 42: 554-559. https://doi.org/10.1093/ajcn/42.3.554
48. Viberti GC, Hill RD, Jarrett RJ, Argyropoulos A, Mahmud U, Keen H, "Microalbuminuria as a predictor of clinical nephropathy in insulin-dependent diabetes mellitus". Lancet, 1982, 1:1430-1432. https://doi.org/10.1016/S0140-6736(82)92450-3
49. Vogelmann SU, Nelson WJ, Myers BD, Lemley KV, "Urinary excretion of viable podocytes in health and renal disease". American Journal of Physiology, 2003, 285:F40-F48. https://doi.org/10.1152/ajprenal.00404.2002
50. Wang L, McLeod HL, Weinshilboum RM, "Genomics and drug response". New England Journal of Medicine, 2011, 364(12): 1144-1153. https://doi.org/10.1056/NEJMra1010600
51. Weinshilboum R, "Inheritance and drug response". New England Journal of Medicine, 2003, 348(6): 529-537. https://doi.org/10.1056/NEJMra020021
52. Wharram BL, Goyal M, Wiggins JE, Sanden SK, Hussain S, Filipiak WE, et al., "Podocyte depletion causes glomerulosclerosis: diphtheria toxin-induced podocyte depletion in rats expressing human diphtheria toxin receptor transgene". Journal of American Society of Nephrology, 2005, 16: 2941-2952. https://doi.org/10.1681/ASN.2005010055
53. WHO. IPCS Environmental Health Criteria 119: Principles and methods for the assessment of nephrotoxicity associated with exposure to chemicals. Geneva: World Health Organization, 1991, 266 pp.
54. WHO. IPCS Biomarkers in Risk Assessment: Validity and Validation. 2001. http://www.inchem.org/documents/ehc/ehc/ehc222.htm. Accessed on: 3/04/2020
55. Wolff AC, Hammond ME, Schwartz JN, Hagerty KL, Allred DC, Cote MD, et al., "American Society of Clinical Oncology/College of American Pathologists guideline recommendations for human epidermal growth factor receptor 2 testing in breast cancer". Journal of Clinical Oncology, 2007, 25(1): 118-145. https://doi.org/10.1200/JCO.2006.09.2775
56. Wolk A, Vessby B, Ljung H, Barrefors P, "Evaluation of a biological marker of dairy fat intake". American Journal of Clinical Nutrition, 1998, 68: 291-295. https://doi.org/10.1093/ajcn/68.2.291
57. Wuhrer M, "Glycosylation profiling in clinical proteomics: heading for glycan biomarkers". Expert Reviews in Proteomics, 2007, 4: 135-136. https://doi.org/10.1586/147894126.96.36.199
58. Yancy CW, Jessup M, Bozkurt B, Butler J, Casey DE Jr, Drazner MH, et al., "ACCF/AHA guideline for the management of heart failure: a report of the American College of Cardiology Foundation/American Heart Association Task Force on practice guidelines". Circulation, 2013, 15; 128:e240-327.
59. Zauber AG, Winawer SJ, O'Brien MJ, Lansdorp-Vogelaar I, van Ballegooijen M, Hankey BF, et al., "Colonoscopic polypectomy and long-term prevention of colorectal-cancer deaths". New England Journal of Medicine, 2012, 366(8): 687-696. https://doi.org/10.1056/NEJMoa1100370
60. Zhou H, Yuen PST, Pisitkun T, Gonzales PA, Yasuda H, Dear JW, et al., "Collection, storage, preservation, and normalization of human urinary exosomes for biomarker discovery". Kidney International, 2006, 69: 1471-1476. https://doi.org/10.1038/sj.ki.5000273
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
Authors who publish with this journal agree to the following terms:
- Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution-NonCommercial 3.0 Unported License. that allows others to share the work with an acknowledgment of the work's authorship and initial publication in this journal.
- Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgment of its initial publication in this journal.
- Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access).