The practice of precision medicine is quickly accepted and popularized as a new frontier for genetic disease diagnosis and management, particularly in diagnosing rare diseases, especially, genetic diseases and birth defects.The variety of mutation types associated with rare diseases include the protein coding sequence variations, the noncoding variations or the copy number variations, some of which are rare or de novo, in a broad mutation spectrum. Based on various case analyses, this paper shows the challenge and the importance of an accurate genetic variant interpretation and the standard follow-up genetic counseling service in providing the precision medicine for patients of rare diseases.
LU Guohui
,
XU Yiming
,
ZHANG Wei
. Importance of accurate variant interpretation and genetic counseling in precision medicine for rare diseases[J]. Science & Technology Review, 2016
, 34(20)
: 56
-63
.
DOI: 10.3981/j.issn.1000-7857.2016.20.009
[1] Chen W, Zheng R, Baade P D, et al. Cancer statistics in China[J]. CA:A Cancer Journal for Clinicians, 2016, 66:115-132.
[2] MedlinePlus. Rare diseases[EB/OL].[2016-09-20]. https://medlineplus.gov/rarediseases.html.
[3] Baldovino S, Moliner A M, Taruscio D, et al. Rare diseases in Europe:From a wide to a local perspective[J]. Israel Medical Association Journal, 2016, 18:359-363.
[4] Orphanet. Orphan drugs in Japan[EB/OL].[2016-09-20]. http://www.orpha.net/consor/cgibin/Education_AboutOrphanDrugs.php?lng=EN&stapage=ST_EDUCATION_EDUCATION_ABOUTORPHANDRUGS_JAP.
[5] Song P, Gao J, Inagaki Y, et al. Rare diseases, orphan drugs, and their regulation in Asia:Current status and future perspectives[J]. Intractable & Rare Diseases Research, 2012, 1(1):3-9.
[6] Eurordis. What is a rare disease?[EB/OL]. 2007-04-17[2016-09-20]. http://www.eurordis.org/sites/default/files/publications/Fact_Sheet_RD.pdf.
[7] 马端, 李定国, 张学, 等. 中国罕见病防治的机遇与挑战[J]. 中国循证儿科杂志, 2011, 6:81-82.
[8] 国家发展和改革委员会. 国家发展改革委关于实施新兴产业重大工程包的通知[EB/OL]. 2015-06-08[2016-09-20]. http://www.sdpc.gov.cn/gzdt/201507/t20150723_742596.html.
[9] American board of medical genetics and genomics learning guide for laboratory genetics and genomics[EB/OL].[2016-09-20]. http://www.abmgg.org/pdf/Learning_Guide_LaboratoryGG_May2016.pdf.
[10] Resta R, Biesecker B B, Bennett R L, et al. A new definition of genetic counseling:National society of genetic counselors' task force report[J]. Journal of Genetic Counseling, 2006, 15(2):77-83.
[11] 遗传表型标准化用语[DB].[2016-09-20]. http://www.chinahpo.org.
[12] 杜传书. 医学遗传学[M]. 北京:人民卫生出版社, 1986.
[13] 杜传书. 医学遗传学[M]. 2版. 北京:人民卫生出版社, 1992.
[14] 陆国辉. 产前遗传病诊断[M]. 广州:广东科技出版社, 2002.
[15] 吴柏林. 基因诊断和遗传筛查[J]. 科学, 2003, 55(1):16-19.
[16] 夏家辉, 邬玲仟. 遗传咨询与产前诊断[J]. 中华妇产科杂志, 2003, 38(8):474-477.
[17] Lu G, Chen T J, Huang S Z, et al. Prenatal genetic diagnosis and its application in China[J]. Chinese Journal of Eugenics and Genetics, 2003, 11:1-5.
[18] 陆国辉, 徐湘民. 临床遗传咨询[M]. 北京:北京大学医学出版社, 2007.
[19] 陆国辉, 余艳红. 实用妇婴九病:从预防到基因组医学[M]. 北京:高等教育出版社, 2009.
[20] 黄尚志. 思考中国的罕见病问题[J]. 医学研究杂志, 2010, 39(11):3-4.
[21] 周钢桥, 张学. 基因组学与人类疾病[J]. 遗传, 2011, 33(8):807-808.
[22] 郭亦寿, 龚瑶琴, 郭辰虹, 等. 提高出生人口先天素质的干预模式[J]. 山东大学学报(医学版), 2002, 40(3):232-234.
[23] 杨焕明. 未来基因测序将走向个人医疗应用[J]. 中国科技信息, 2012, 17:20-20.
[24] 吕康模, 熊业华, 俞皓, 等. 1700名新生儿遗传性耳聋基因突变筛查[J]. 中华医学遗传学杂志, 2014, 31(5):547-552.
[25] 复旦大学生命科学学院. 2013年中国首届遗传咨询师培训与研讨会开幕[EB/OL]. 2013-03-12[2016-09-20]. http://life.fudan.edu.cn/Data/View/930.
[26] 中国遗传学会遗传咨询分会. 基本介绍[EB/OL].[2016-09-20]. http://www.cbgc.org.cn/profile/introduce/.
[27] 中国医师协会. 中国医师协会医学遗传医师分会成立大会在京隆重召开[EB/OL]. 2015-12-29[2016-09-20].http://www.cmda.net/gongzuodongtai/zhuankeyishifenhui/2015-12-29/15178.html.
[28] Zhang W, Cui H, Wong L J C. Application of next generation sequencing to molecular diagnosis of inherited diseases[J]. Topics in Current Chemistry,2014, 336:19-46.
[29] OMIM. Number of entries in OMIM[EB/OL].[2016-09-20]. http://www.omim.org/statistics/entry.
[30] Mardis E R. The $1,000 genome, the $100,000 analysis?[J]. Genome Medicine, 2010, 2:84.
[31] Zhang V W, Bean L J H. Reporting clinical molecular genetics laboratory results[M]. Hu P C, Hegde M R, Lennon P A, ed. Modern Clinical Molecular Techniques. London:Springer, 2012.
[32] Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants:A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J]. Genetics in Medicine, 2015, 17(5):405-424.
[33] 上海交通大学. 附属儿童医院首例炎症性肠病患儿平稳出仓[EB/OL]. 2016-09-08[2016-09-20]. http://news.sjtu.edu.cn/info/1022/1134671.htm.
[34] Bell C J, Dinwiddle G L, Miller N A, et al. Carrier testing for severe childhood recessive diseases by next-generation sequencing[J]. Science Translational Medicine, 2011, 3(65):65ra4.
[35] 王维治. 神经病学[M]. 北京:人民卫生出版社, 2004.
[36] Doyle D L, Awwad R I, Austin J C, et al. 2013 review and update of the genetic counseling practice based competencies by a task force of the accreditation council for genetic counseling[J]. Journal of Genetic Counseling, 2016, 25(5):868-879.
[37] 不是亲人, 胜似亲人-美国培养的好医生[N]. 美南新闻, 2013-03-09(A16).
[38] Bunkar N, Pathak N, Lohiya N K, et al. Epigenetics:A key paradigm in reproductive health[J]. Clinical and Experimental Reproductive Medicine, 2016, 43(2):59-81.
[39] García-Giménez J L, Sanchis-Gomar F, Lippi G, et al. Epigenetic biomarkers:A new perspective in laboratory diagnostics[J]. Clinica Chimica Acta, 2012, 413(19/20):1576-1582.
[40] Yuand H, Zhang V W. Precision medicine for continuing phenotype expansion of human genetic diseases[J/OL]. BioMed Research International, 2015. http://dx.doi.org/10.1155/2015/745043.
[41] 邬玲仟, 王宁. 医学遗传学将告别无序发展状态[N]. 健康报, 2016-01-18.
