精准医学开拓个体化医疗领域“蓝海市场”的进程

摘要/Abstract

摘要：

大科学、大数据时代，精准医学（precision medicine， PM）在概念、规模、技术手段、应用范围等各方面已有质的飞跃，正在为高科技研发提供源源不断的动力。与传统医学所提倡的辩证施治相比，作为循证医学加强版的PM力求标本兼治，且百发百中，强调个体生命的生物学、个体行为、生活方式和生存环境等相关因素的动态互作，并以此为基石量身定制全方位的个性化医疗与健康服务。乘势而为的一大批学术机构、研究联盟以及资金充裕的生物技术、生物制药项目也在各自的创新之路取得了令人鼓舞的佳绩；其宏伟蓝图是推动多维度、全方位的医疗保健产品与服务，逐渐将可预判（Predictive）、可预防（Preventive）、可个性化（Personalized）、可参与/分享（Participatory）的“4P医学”一一落到实处。如果将PM视为未来医学发展的标杆并藉此满足全人类对整体福祉和健康、富足生活的渴望，那么该如何去客观衡量该领域的进展与成效？相信《中国医药导刊》的读者们在浏览2024年1月PM专刊时，这一现实问题会在脑海中反复涌现。鉴于此，为协助读者深入了解PM领域的主要发展历程，凸显该领域后续发展的任重道远，本述评主要以最近十年为坐标，回顾性梳理和探讨几个PM相关重要里程碑事件以及抢滩失败的教训来捕捉一些核心路径。作为人类与各种疾病激烈抗争的前沿阵地，PM既需要跨学科、综合性理论与高新技术手段的支持，也需要多边合作、互利共赢之策略。更为重要的是，PM除了引以为傲的科学价值、社会价值与大众吸引力以外，还需要依赖可行的商业模式来实现其崇高使命。

关键词: 精准医学, 里程碑, 临床进展, 教训, 应用前景

Abstract:

Big science and big data have elevated precision medicine （PM） to a grand magnitude in terms of its concept， scale， technical means， application potential and other aspects， while bringing abundant opportunities for high-tech research and development. Compared with traditional medicine that advocates syndrome differentiation， PM is an enhanced version of evidence-based medicine， striving to treat both disease symptoms and their root causes. Indeed， PM emphasizes the dynamic interactions of myriad factors， including human biology， behavior， lifestyle and living environment， aiming to tailor a full range of personalized medical and health services. Many PM-related academic entities， research consortia， as well as well-funded biotech/biopharma initiatives have gained exciting momentum in revamping the field， often with ambitious goals in delivering multidimensional health care products and services， trying to encompass one or more components of P4 medicine （Predictive， Preventive， Personalized and Participatory）. Assuming that PM is the ultimate solution to unmet medical and public health needs and capable of quenching our thirst for overall well-being and a healthy， productive life， how do we objectively gauge its progress and success when there is only a limited number of “transformative products” in the market？ This is the kind of question that is very likely to come to mind when readers of this journal （CJMG） browse through the January 2024 special issue on PM. Accordingly， articlethis article intends to summarize major milestones and key obstacles in the field， focusing on advances in the last ten years as well as recent lessons that are worth noting. Overall， PM as a frontier in an escalated war against various diseasesstill requires interdisciplinary approach to create and maintain a win-win situation for all stakeholders. More importantly， beyond its enviable scientific and social values and appeals， PM must further ensure its commercial viability to substantiate its noble mission.

Key words: Precision medicine； , Milestone； , Clinical advance； , Key lessons； , Outlook

中图分类号:

唐建明.

精准医学开拓个体化医疗领域“蓝海市场”的进程 [J]. 中国医药导刊, 2024, 26(5): 425-431.

TANG Jianming.

Precision Medicine Sailing into “A Blue Sea” of Individualized Health Care [J]. CHINESE JOURNAL OF MEDICINAL GUIDE, 2024, 26(5): 425-431.

参考文献

［1］ The Cancer Genome Atlas Research Network，Weinstein JN，Collisson EA，et al.The cancer genome atlas pan-cancer analysis project［J］.Nat Genet，2013，45（10）：1113-1120.

［2］ National Cancer Institute. TCGA by the Numbers［EB/OL］.（2024）［2024-02-23］.https：//www.cancer.gov/about-nci/organization/ccg/research/structural-genomics/tcga/tcga-by-the-numbers-infographic.

［3］ Caleyachetty R，Littlejohns T，Lacey B，et al.United Kingdom Biobank （UK Biobank）： JACC Focus Seminar 6/8［J］.J Am Coll Cardiol，2021，78（1）：56-65.

［4］ The “All of Us” Research Program Investigators， The “All of Us” Research Program［J］.N Engl J Med，2019，381（7）： 668-676.

［5］ Subramanian M，Wojtusciszyn A，Favre L，et al.Precision medicine in the era of artificial intelligence： implications in chronic disease management［J］.J Transl Med，2020，18（1）：472.

［6］ Kline， A，Wang HY，Li Yk，et al.Multimodal machine learning in precision health：a scoping review［J］.NPJ Digital Medicine，2022，5（1）： 171.

［7］ PMLS.PMLS Virtual Series 2021–AI， Machine Learning & Data Science［EB/OL］.（2021）［2024-02-23］.https：//www.precisionmedicineleaderssummit.com/ai-machine-learning-data-science-in-precision-medicine/.

［8］ PMWC. Navigating the Future of Precision Medicine： AI-Driven Innovations and Collaborative Endeavors［EB/OL］.（2024）［2024-02-23］.Available from： https：//pmwcintl.com/.

［9］ TED.The pharmacy of the future？ Personalized pills， 3D printed at home （Kraft D）［EB/OL］.（2018-07）［2024-02-23］.https：//www.ted.com/talks/daniel_kraft_the_pharmacy_of_the_future_personalized_pills_3d_printed_at_home.

［10］ Can AI catch what doctors miss？（ Topol E）［EB/OL］.（2023-10）［2024-02-23］. https：//www.ted.com/talks/eric_topol_can_ai_catch_what_doctors_miss.

［11］ IC2PerMed项目组.中国和欧洲精准医疗发展现状研究［J］.中国医药导刊， 2024，26（2）： 2-42.

［12］李梅钰，韩洞明，金鑫，等.瑞典精准医疗发展的成功实践与挑战［J］.中国医药导刊，2024，26（1）： 47-51.

［13］王闻雅，季凡森.德国MASTER 项目在肿瘤个性化治疗领域的创新实践［J］.中国医药导刊，2024，26（1）： 52-58.

［14］章颖.瑞士个性化健康网络的数据共享经验［J］.中国医药导刊， 2024，26（1）： 73-76.

［15］韩洞明，熊驰，魏安宁，等.深入探讨“法国基因组医学计划2025”［J］.中国医药导刊， 2024，26（1）： 77-86.

［16］ Collins FS，Varmus H.A new initiative on precision medicine［J］.N Engl J Med， 2015. 372（9）： 793-795.

［17］ Visvikis-Siest S，Theodoridou D，Kontoe MS，et al.Milestones in personalized medicine：from the ancient time to nowadays-the provocation of COVID-19［J］.Front Genet， 2020，11： 569175.

［18］ Raza M，Kumar N，Nair U，et al.Current updates on precision therapy for breast cancer associated brain metastasis：emphasis on combination therapy［J］.Mol Cell Biochem，2021，476（9）：3271-3284.

［19］ Burke W，PsatyBM.Personalized medicine in the era of genomics［J］.JAMA，2007.298（14）：1682-1684.

［20］ Hamburg MA，Collins FS.The path to personalized medicine［J］.N Engl J Med， 2010.363（4）：301-304.

［21］ Sankar PL，ParkerLS.The precision medicine initiative's all of us research program：an agenda for research on its ethical， legal， and social issues［J］.Genet Med，2017，19（7）：743-750.

［22］ Parikh RB，Schwartz JS， NavatheAS.Beyond genes and molecules - a precision delivery initiative for Precision Medicine［J］.N Engl J Med，2017，376（17）： 1609-1612.

［23］ Ginsburg GS，McCarthyJJ.Personalized medicine： revolutionizing drug discovery and patient care. Trends Biotechnol，2001，19（12）： 491-496.

［24］ Njolstad PR，Andreassen OA，Brunak S，et al.Roadmap for a precision-medicine initiative in the Nordic region［J］.Nat Genet， 2019，51（6）： 924-930.

［25］ Hampel H，Vergallo A，Perry G，et al.The Alzheimer precision medicine initiative［J］.J Alzheimers Dis，2019，68（1）： 1-24.

［26］ Sheng T，Ho SWT，Ooi WF，et al.Integrative epigenomic and high-throughput functional enhancer profiling reveals determinants of enhancer heterogeneity in gastric cancer［J］.Genome Med，2021，13（1）：158.

［27］ Tasken K，Russnes HEG，Aas E，et al.A national precision cancer medicine implementation initiative for Norway［J］.Nat Med，2022，28（5）：885-887.

［28］ Cisneros L. White House and Gates Foundation to Convene Precision Public Health Summit at UCSF［EB/OL］.（2016-05）［2024-02-23］.https：//www.ucsf.edu/news/2016/05/403091/white-house-and-gates-foundation-convene-precision-public-health-summit-ucsf.

［29］ Harvard University Medicial School. PM23： Precision Medicine Without Borders［EB/OL］.（2023）［2024-02-23］.https：//dbmi.hms.harvard.edu/events/precision-medicine-annual-conference/2023-precision-medicine-without-borders.

［30］ Global Market Insight. Precision Medicine Market Size［EB/OL］.（2023）［2024-02-23］.https：//www.gminsights.com/industry-analysis/precision-medicine-market.

［31］ Markets and Markets. Gene editing market by product & service， technology， application end user-global forecast to 2028［EB/OL］.（2023）［2024-02-23］.https：//www.marketsandmarkets.com/Market-Reports/genome-editing-engineering-market-231037000.html.

［32］ Global Market Insights. Gene editing market size， applicayionby， technology， end-user & forecast， 2022-2030［EB/OL］.（2022）［2024-02-23］.https：//www.gminsights.com/industry-analysis/gene-editing-market.

［33］ Amstrong A. The top 10 biotech IPOs of 2021［EB/OL］.（2022）［2024-02-23］.https：//www.fiercebiotech.com/special-reports/top-10-biotech-ipos-2021.

［34］ Mitra A，Barua A，Huang LP， et al.From bench to bedside：the history and progress of CAR T cell therapy［J］.Front Immunol， 2023，14：1188049.

［35］ Johnson KM，Jiao B，Ramsey SD，et al.Lifetime medical costs attributable to sickle cell disease among nonelderly individuals with commercial insurance［J］.Blood Adv，2023，7（3）： 365-374.

［36］ Stein R. A Young Mississippi Woman's Journey Through A Pioneering Gene-Editing Experiment［EB/OL］.（2022）［2024-02-23］.https：//www.npr.org/sections/health-shots/2019/12/25/784395525/a-young-mississippi-womans-journey-through-a-pioneering-gene-editing-experiment.

［37］ Saez-Ibanez AR，Upadhaya S，Partridge T，et al.Landscape of cancer cell therapies： trends and real-world data［J］.Nat Rev Drug Discov，2022，21（9）： 631-632.

［38］ Krishna S， Lowery FJ， Copeland AR，et al.Stem-like CD8 T cells mediate response of adoptive cell immunotherapy against human cancer［J］.Science，2020，370（6522）： 1328-1334.

［39］ Guo J，Luo N，Ai GH，et al.Eradicating tumor in a recurrent cervical cancer patient with autologous tumor-infiltrating lymphocytes and a modified lymphodepleting regimen［J］.J Immunother Cancer，2022，10（2）：e003887.

［40］ Morotti M， Albukhari A，Alsaadi A，et al.Promises and challenges of adoptive T-cell therapies for solid tumours［J］.Br J Cancer， 2021，124（11）：1759-1776.

［41］ Zylm W.Revolutionizing Cancer Treatment：FDA Approves Groundbreaking TIL Therapy for AdvancedMelanoma［EB/OL］.（2024）［2024-02-23］.https：//bnnbreaking.com/breaking-news/health/revolutionizing-cancer-treatment-fda-approves-groundbreaking-til-therapy-for-advanced-melanoma.

［42］ Xu T，Huang C，Liu Y，et al.Artificial intelligence based on deep learning for differential diagnosis between benign and malignant pulmonary nodules：a real-world， multicenter， diagnostic study［J］.J Clinical Oncology， 2020，38（15suppl）： 9037.

［43］ Zhang L，Shao Y， Chen GM， et al.An artificial intelligence-assisted diagnostic system for the prediction of benignity and malignancy of pulmonary nodules and its practical value for patients with different clinical characteristics［J］.Front Med （Lausanne）， 2023，10：1286433.

［44］ Allyn， B. How Silicon Valley fervor explains Elizabeth Holmes' 11-year prison sentence［EB/OL］.（2022）［2024-02-23］.https：//www.npr.org/2022/11/23/1138477784/elizabeth-holmes-sentenced-11-years-explained.

［45］ Recode Staff. 23andMe CEO Anne Wojcicki answers genetics and privacy questions［EB/OL］.（2017）［2024-02-23］.https：//www.vox.com/2017/9/29/16385320/transcript-23andme-ceo-anne-wojcicki-genetics-privacy-health-questions-too-embarrassed-to-ask.

［46］ Wired. 23andMe's Pharma Deals Have Been the Plan All Along［EB/OL］.（2018）［2024-02-23］.https：//www.wired.com/story/23andme-glaxosmithkline-pharma-deal/.

［47］ Chartr. Theranos： The rise and fall of a company that promised to change the world. ［EB/OL］.（2021-09-01）［2024-02-23］.https：//www.chartr.co/stories/2021-09-01-1-rise-and-fall-of-theranos.

［48］ People Matters.Rise and fall of Theranos & Holmes：5 key takeaways from the fairy tale［EB/OL］.（2022）［2024-02-23］.https：//www.peoplematters.in/article/leadership/rise-and-fall-of-theranos-holmes-5-key-takeaways-from-the-fairy-tale-36134.

［49］ Kim， W. Exclusive behind-the-scenes look at Hulu series， 'The Dropout： The Rise and Con of Elizabeth Holmes'［EB/OL］.（2022）［2024-02-23］.https：//abcnews.go.com/Business/exclusive-scenes-hulu-series-dropout-rise-con-elizabeth/story？id=83186668.

［50］ Business F.23andMe confirms hackers accessed data of 6.9 million users［EB/OL］.（2023）［2024-02-23］.https：//finance.yahoo.com/news/dermasensor-study-results-skin-cancer-203000683.html.

［51］ Goodkind N.23andMe is low on cash and its stock is worth pennies. The CEO wants another chance［EB/OL］.（2024）［2024-02-23］.https：//www.cnn.com/2024/02/02/investing/23andme-stock-anne-wojcicki/index.html.

［52］ CB Insights. These 160 precision medicine companies are shaking up how pharma & healthcare leaders approach drug delivery［EB/OL］.（2022）［2024-02-23］.https：//www.cbinsights.com/research/report/tech-market-map-precision-medicine-pharma-healthcare-leaders/.

［53］ Data Journalism Team. Revealed： pharma leaders in precision， personalised medicine［EB/OL］.（2022）［2024-02-23］.https：//www.clinicaltrialsarena.com/features/revealed-pharma-leaders-in-precision-and-personalised-medicine/？cf-view&cf-closed.

［54］ Lu CY， TerryV，Thomas DM，et al.Precision medicine： affording the successes of science［J］.NPJ，Precision Oncology，2023，7（1）： 3

快速检索引用检索图表检索高级检索