Clinical Implementation of Precision Medicine: Current Challenges and Future Perspectives

Xuejun Kong, MD, Ruoyu Wang, MD, Dewei Zhao, MD, Zhiqiang Wang, MD, Xiao Liu, MD, Yan Ding, MD, PhD


Precision medicine has attracted tremendous global attentions in the past few years. A great deal of strikingly successful cases using targeted therapies for cancers and other critical human diseases have been reported and proved the effectiveness of genome-based personalized treatments. The emerging technologies of next generation sequencing (NGS) enable us to decode genetic alterations in a high throughput mode and detect all potential pathogenic mutations simultaneously.  Although precision treatments have shown promising perspectives, adoption of precision medicine in clinical settings remains far from satisfactory, especially in the underdeveloped regions. The major challenges include: 1) yet to be standardized genetic tests; 2) Delayed targeted drug development; 3) high cost of targeted drugs; 4) slow acceptance by clinicians.  In this review, we will discuss these main obstacles for advancing the precision medicine, and provide insights on how global efforts may need to work out a strategic plan to accelerate the precision medicine and improve the quality of human health.

[N A J Med Sci. 2016;9(3):123-126.   DOI:  10.7156/najms.2016.0903123]


precision medicine, target therapy, oncology, next generation sequencing

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Moriarity A, O'Sullivan J, Kennedy J, Mehigan B, McCormick P. Current targeted therapies in the treatment of advanced colorectal cancer: a review. Ther Adv Med Oncol. 2016;8:276-293.

Goldblatt EM, Lee WH. From bench to bedside: the growing use of translational research in cancer medicine. Am J Transl Res. 2010;2:1-18.

Kelley MC. Immune Responses to BRAF-Targeted Therapy in Melanoma: Is Targeted Therapy Immunotherapy? Crit Rev Oncog. 2016;21:83-91.

Wu KC, Reynolds NJ. CARD14 mutations may predict response to antitumour necrosis factor-α therapy in psoriasis: a potential further step towards personalized medicine. Br J Dermatol. 2016;175:17-18.

Montella L, Palmieri G, Addeo R, Del Prete S. Hepatocellular carcinoma: Will novel targeted drugs really impact the next future? World J Gastroenterol. 2016;22:6114-6126.

Paleiron N, Bylicki O, André M, et al. Targeted therapy for localized non-small-cell lung cancer: a review. Onco Targets Ther. 2016;9:4099-4104.

Townsley DM, Dumitriu B, Liu D, Biancotto A, Weinstein B, Chen C, et al. Danazol Treatment for Telomere Diseases. N Engl J Med. 2016;374:1922-1931

Gyawali B, Ota A, Ando Y. Nivolumab in Nonsquamous Non-Small-Cell Lung Cancer. N Engl J Med. 2016;374:493.

Rajan A, Kim C, Heery CR, Guha U, Gulley JL. Nivolumab, anti-programmed death-1 (PD-1) monoclonal antibody immunotherapy: Role in Advanced Cancers. Hum Vaccin Immunother. 2016;2:1-13.

Fuchs CS, Tomasek J, Yong CJ, Dumitru F, Passalacqua R, Goswami C, Safran H, et al. Ramucirumab monotherapy for previously treated advanced gastric or gastro-oesophageal junction adenocarcinoma (REGARD): an international, randomised, multicentre, placebo-controlled, phase 3 trial. Lancet. 2014;383:31-39.

Gao J, Wu H, Wang L, Zhang H, Duan H, Lu J, Liang Z. Validation of targeted next-generation sequencing for RAS mutation detection in FFPE colorectal cancer tissues: comparison with Sanger sequencing and ARMS-Scorpion real-time PCR. BMJ Open. 2016;6.

Alizadeh AA, Aranda V, Bardelli A, Blanpain C, Bock C, Borowski C, et al. Toward understanding and exploiting tumor heterogeneity. Nat Med. 2015;21:846-853.

Kaderbhai CG, Boidot R, Beltjens F, Chevrier S, Arnould L, Favier L, et al. Use of dedicated gene panel sequencing using next generation sequencing to improve the personalized care of lung cancer. Oncotarget. 2016;7:24860-24870

Yadav M, Jhunjhunwala S, Phung QT, Lupardus P, Tanguay J, Bumbaca S, et al. Predicting immunogenic tumour mutations by combining mass spectrometry and exome sequencing. Nature. 2014;515:572-576.

Patch AM, Christie EL, Etemadmoghadam D, Garsed DW, George J, Fereday S, et al. Whole-genome characterization of chemoresistant ovarian cancer. Nature. 2015;521:489-494.

Siu LL, Conley BA, Boerner S, LoRusso PM. Next-Generation Sequencing to Guide Clinical Trials. Clin Cancer Res. 2015;21:4536-4544

Currás-Freixes M, Inglada-Pérez L, Mancikova V, Montero-Conde C, Letón R, Comino-Méndez I, et al. Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients. J Med Genet. 2015;52:647-656.

Rosell R, Karachaliou N. Lung cancer: Using ctDNA to track EGFR and KRAS mutations in advanced-stage disease. Nat Rev Clin Oncol. 2016;13:401-402.

Lim EH, Zhang SL, Li JL, et al. Using whole genome amplification (WGA) of low-volume biopsies to assess the prognostic role of EGFR, KRAS, p53, and CMET mutations in advanced-stage non-small cell lung cancer (NSCLC). J Thorac Oncol. 2009;4:12-21.

Kinoshita Y, Koga Y, Sakamoto A, Hidaka K. Long-lasting response to crizotinib in brain metastases due to EML4-ALK-rearranged non-small-cell lung cancer. BMJ Case Rep. 2013;2013.


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