untitled

Size: px

Start display at page:

Download "untitled"

영서 경
6 years ago
Views:

1 Symposium 3: How to use open database from general population 건강보험심사평가원보건의료빅데이터를활용한천식연구 울산의대알레르기내과 김태범 서론 건강보험심사평가원 ( 심평원 ) 은 2012년도부터점진적인연구용청구데이터개방을시작하였다 년 빅데이터활용 이화두가되면서빅데이터가가진잠재적인가치를구현하기위하여공공기관보유정보의개방과청구데이터공개가더욱가속화되었다. 이후로현재까지청구데이터를이용한연구들이활발하게진행되어연구결과들이학술지게재및보건의료서비스정책결정과수립을위한과학적인근거로활용되고있다. 청구데이터는전국민의의료서비스내용을대표하는자료로써대표성과포괄성의특성을갖는다 1). 청구데이터는엄격한통제하에수집된일차자료와는달리, 실사회 (real world) 를반영한다. 그렇기때문에연구자들은제한적이고실험적환경이아닌실제의료보건환경을반영한현황및추세에대한관찰을바탕을한연구가가능하다는특성이있다. 또한가장큰장점은이미수집되고구축된데이터라는점에서비용측면에서효율적이며, 데이터수집에소요되는시간을단축할수있다. 국민건강관리공단에서제공하는 2차자료는우리나라의전국민건강보험시스템하에서생성되는청구내역을바탕으로생성되는자료로, 우리나라와가장비슷한의료보험시스템을구축하는대만에서도동일생성되는자료를이용한연구가다양한주제로시행되고있다. 전국민건강보험자료를이용하여구축한대만의국가건강보험데이터베이스 (National Health Insurance Research Database, NHIRD) 를활용하여천식질환에대한비용과효용을추정한연구와천식의위험요인을확인 Table 1. NHIRD 를이용한대만의천식연구동향 연구자 ( 연도 ) Wang et al. (2012) Hwang et al. (2012) Sun et al. (2012) 주요연구결과 어린이천식발생비용추정연구아토피피부염, 알레르기비염과천식유병률조사연구아토피피부염과알레르기비염을진단받은환자에서천식의위험이높음 (OR=9.4) 황달이었던집단에서높은천시발병률을보였고 (OR=1.64), 여아집단에서더높은경향을보임 225

2 Table 2. 심평원자료를활용한국내천식연구동향 연구자 ( 연도 ) S Kim and TB Kim et al. (2015) S Kim and TB Kim et al. (2013) CY Kim and SH Cho et al. (2011) YS Park et al. (2016) T Lee and TB Kim et al. (2014) 주요연구결과임신중천식치료및의료이용실태조사및주산기위험인자분석천식환자의료이용실태와처방내역분석천식의전체발생률과천식환자의의료비용분석 Asian dust 가천식에미치는영향, 사회경제학적상태에따른차이비교천식코호트 COREA cohort와심평원자료를연계하여위험인자를분석 하는등의연구가활발하게진행되었다 2-4) (Table 1). 국내에서도다양한주제의연구가진행되고있으며 5,6), 본연구자도 2013년천식환자의의료이용실태및처방내역분석 7), 2014년심평원자료와천식코호트인 COREA를연계하여천식의료이용행태와위험인자를분석한바있고 8), 최근에는임산부천식에대해심평원자료를활용한연구를진행하여학술지게재한바있다 9) (Table 2). 그러므로본연구자가수행한청구데이터를이용한천식연구를바탕으로관심이있는의료연구진들에게도움이될수있는내용을소개하고자한다. 건강보험청구데이터소개및구성, 이용방법 건강보험청구데이터는요양기관이의료서비스를제공한후환자의진료비용중국민건강보험이부담하는부분에대해지급의뢰를하기위해건강보험심사평가원에보험급여청구를하면서발생하는데이터이다. 2011년을기준으로, 우리나라의 1년간건강보험청구환자수는주민등록인구의 90% 에해당하는약 4천 6백만명으로전국의 8만여개요양기관으로부터의방대한청구건수가포함되어있다. 이러한청구데이터를이용하는방법은총세가지로첫번째는심평원내위치한자료처리실을이용하는방법이다. 연구자들이연구주제에맞게맞춤형으로데이터가세팅된컴퓨터를할당받아이용하게되는데, 주로대용량의자료혹은타기관자료와연계가필요한경우이용하게된다. 외부보유자료연계는환자의포괄적사전동의획득이나심평원데이터와의연계에대한동의획득시연계가가능하다. 두번째방법은원격접속서비스를통한데이터활용인데, 이는연구자들의컴퓨터를이용하여심평원의서버로접속하여서버에저장되어있는데이터를접속하고사용하는방법이다. 자료처리실이용또는원격접속을통한데이터사용은심의절차를거쳐야한다. 마지막세번째방법은무작위층화로추출된 1년단위의표본데이터를이용하는방법이다. 표본자료종류는전체환자표본 (NPS), 입원환자표본 (NIS), 노인환자표본 (APS), 소아청소년환자표본 (PPS) 으로나누어제공되고있다. 이러한표본데이터는별다른심의과정없이데이터사용수수료를지불한후연구자들이직접구입하여사용할수있다. 연구용으로제공되는청구데이터는네개의테이블로나누어져있다. 첫번째는명세서일반내역으로인구학적특성변수, 수진자주민번호대체키, 주상병및부상병, 요양기관대체키, 입원및외래구분변수 ( 서식코드 ), 의료급여종별코드가포함되어있다. 이러한변수들은안내변수 (instruction variables) 라고하며, 연구대상을추출하는데있어활용도가높다. 두번째테이블은환자들이입원하여발생하는 226

3 김태범 : 건강보험심사평가원보건의료빅데이터를활용한천식연구 모든의료서비스정보로환자들에게제공된진료행위, 약제등에대한자세한정보를담은진료내역정보이다 ( 검사, 처치, 시술, 약제등 ). 세번째테이블은주상병, 부상병을포함한모든동반증상정보로서임신과같이질병이아닌경우가상병코드로붙는경우이러한동반질병내역을확인하여연구를진행할수있다. 마지막으로원외처방내역인데, 환자가외래처방으로받은약제에대한모든정보를포함하고있다. 국민건강보험공단표본코호트 표본코호트데이터베이스는자료규모의방대함과개인정보보호의문제등으로연구자의접근과활용이제한적이었던점을획기적으로개선하고자 2002년을기준으로전국민의 2% 인약 100만명을표본추출하여 2013년까지동일한대상자에대해사회 경제적변수 ( 거주지, 사망년월, 사망사유, 소득수준등 ) 가포함된자격자료, 진료내역및건강검진자료를 12년간연결한코호트자료로장기간의관찰이가능하고시간적선후관계나인과관계분석이가능한자료이다. 표본코호트데이터베이스는 2002년기준으로총 1,025,340명의건강보험가입자및의료급여수급권자 ( 외국인제외 ) 를대상으로 2002년부터 2013 년까지 12개년간성별, 연령대, 지역, 가입자구분, 소득분위등사회경제적자격변수 ( 장애및사망포함 ), 의료이용 ( 진료및건강검진 ) 현황, 요양기관현황의내용을포함하고있다. 표본코호트데이터베이스의구축형태는 2002년을기준으로구축된표본을 2010년까지유지하면서사망또는이민등의이유로자격상실로인한자연감소를매년신생아자료를추가하여유지하였다. 자세한데이터베이스의구성은 Table 3에나타나있으며 Figure 1에표본코호트데이터베이스통합과이용에관련한내용이정리되어있다. 이러한표본코호트데이터베이스를활용하는경우천식환자의조작적인정의가필요한데, 예를들어 2002년 1월 1일부터 2012년 12월 31일까지각연도별로의료기관을방문하여주진단명또는부진단명중천식상병코드 (J45-46) 가 1회이상있으면서천식약물을 1개이상처방받거나지정된천식관련검사를 1회이상시행한경우와같이지정할수있다. Table 3. 국민건강보험공단표본코호트 DB 구성 구분자격 DB 진료 DB 건강검진 DB 요양기관 DB 세부특성 대상 : 건강보험가입자및의료급여수급권자변수 : 성별, 연령, 지역, 가입자구분, 소득분위, 사망정보 ( 사망년월, 사망원인 ) 등내용 : 대상자가요양기관에방문하여진료등을받은내역에대해요양기관으로부터요양급여가청구된자료 - 명세서 (20T): 개인일련번호, 명세서키코드등 - 진료내역 (30T): 원내행위내역 ( 진료, 의약품, 치료재료등 )+ 금액등 - 상병내역 (40T): 상병내역 - 처방전교부상세내역 (60T): 원외처방내역내용 : 건강검진주요결과및문진에의한생활습관및행태관련자료 - 의료급여수급자의일반건강검진자료는미포함 (2012년부터위탁수행 ) 년부터생애전환기건강진단자료포함내용 : 요양기관의종별, 설립구분별, 지역별현황및설비, 장비, 인력관련자료 227

Fig. 1. 국민건강보험공단표본코호트 DB 통합과이용 Table 4. 천식상병코드 (ICD-10, KCD-4/5) 상병코드한글명영문명 J45 천식 Asthma J45.0 주로알레르기성천식 Predominantly allergic asthma J45.0-002 아토피성천식 Atopic asthma J45.

4 Fig. 1. 국민건강보험공단표본코호트 DB 통합과이용 Table 4. 천식상병코드 (ICD-10, KCD-4/5) 상병코드한글명영문명 J45 천식 Asthma J45.0 주로알레르기성천식 Predominantly allergic asthma J 아토피성천식 Atopic asthma J 외인성알레르기천식 Extrinsic allergic asthma J45.1 비알레르기성천식 Nonallergic asthma J 내인성비알레르기천식 Intrinsic nonallergic asthma J 특이체질천식 Idiosyncratic asthma J45.8 혼합형천식 Mixed asthma J45.9 상세불명의천식 Asthma, unspecified J 만기발병천식 Late-onset asthma J 천식성기관지염 NOS Asthmatic bronchitis NOS J46.0 천식지속상태 Status asthmaticus J46.0 주로알레르기천식을동반 With predominantly allergic asthma J46.1 비알레르기천식을동반 With nonallergic asthma J46.8 혼합형천식을동반 With mixed asthma J46.9 상세불명의천식을동반 With unspecified asthma 천식의상병코드와천식약제주성분코드및천식관련시술및검사는 Table 4,5,6 에나타내었다. 청구데이터의한계점 청구데이터의많은유용성에도불구하고제한점이있다는사실을염두해야한다우선연구대상 (study population) 추출시, 해당질환유무를바탕으로추출하는경우연구대상의정확성에대한신뢰 228

5 김태범 : 건강보험심사평가원보건의료빅데이터를활용한천식연구 도가비교적낮다는점이다. 천식의경우명확한천식진단을위한양성결과가부족한경우라할지라도약제의사용을위해천식상병을넣어보험적용을받을수있도록하는것이대표적인예이다. 또한소아의경우네블라이저사용을위해천식상병을넣기도한다. 이는심사와평가라는우리나라의독특한제도로인한결과로, 결과분석시심각한오류의발생가능성이있다. 또한청구데이터는환자들의임상정보가거의포함되어있지않다. 각종임상검사및신체기능에대한측정값, 질병력, 가족력과같은정보가포함되어있지않아이러한부분에대한연구가불가능하다. 이러한한계점은다른외부데이터인병원의의무기록이나, 국민건강영양자료, 건강검진자료등의자료들과연계하여보완할수있다. 마지막으로비급여진료, 처방없이구입한약품에대한의료서비스내역은포함되어있지않고, 의료급여환자, 보건소진료환자, 포괄수가제 (Diagnostic related group, DRG) 대상환자들은구체적인내역이누락되어있는경우가흔하다는점이다. 결론 천식질환과관련한연구로서심평원데이터를잘활용하면의료이용행태, 유병률, 사회경제학적비용연구, 잘조절되지않는천식환자의위험인자등을밝힐수있다. 심평원데이터는우리나라의 Table 6. 천식관련시술및검사코드 코드분류번호명칭 / 산정명칭 F6001 나601가 호흡기능검사-기본폐기능검사 ( 기류용적폐검사제외 ) F6002 나601나 호흡기능검사-기류용적폐곡선 ( 기본폐기능검사포함 F6012 나601차 호흡기능검사-운동부하심폐기능검사 E7122 나712가 (2) 기관지유발시험-특이적 ( 항원별 ) E7123 나712가 (3) 기관지유발시험-기도가역성검사 E7128 나712가 (1) 주 기관지유발시험-비특이적-만니톨사용 E7129 나712가 (1) 기관지유발시험-비특이적 거의모든사람을포함하는대표성을가진데이터로서매우유용한가치가있다. 임상정보가부족하다는큰결점이있으나. 이는각기관이소유하고수집한개별적인데이터들과의연계를통하여보건의료빅데이터의창출이가능하고이를바탕으로다양한연구가가능하며천식질환에서앞으로이를활용한연구가활발히이루어져야할것이다. Reference 1. Kim JA. Introduction and utilization of the National Health Insurance data. The Korean Academy of Asthma, Allergy and Clinical Immunology News Letter 2014 March. Available from: _03.html 2. Wang JY, Liu LF. Health care utilization and medical costs for childhood asthma in Taiwan: using Taiwan National Health Insurance Research Database. Asia Pac Allergy 2012;2:

Table 5. 천식약제주성분코드 3. Hwang CY, Chen YJ, Lin MW, Chen TJ, Chu SY, Chen CC, et al. Prevalence of atopic dermatitis, allergic rhinitis and asthma in Taiwan: a national study 2000 to 2007.

6 Table 5. 천식약제주성분코드 3. Hwang CY, Chen YJ, Lin MW, Chen TJ, Chu SY, Chen CC, et al. Prevalence of atopic dermatitis, allergic rhinitis and asthma in Taiwan: a national study 2000 to Acta Derm Venereol 2010;90: Ku MS, Sun HL, Sheu JN, Lee HS, Yang SF, Lue KH. Neonatal jaundice is a risk factor for childhood asthma: a retrospective cohort study. Pediatr Allergy Immunol 2012;23: Park YS, Kim JH, Jang HJ, Tae YH, Lim DH. The effect of Asian dust on asthma by socioeconomic status using national health insurance claims data in Korea. Inhal Toxicol 2016;28: Kim CY, Park HW, Ko SK, Chang SI, Moon HB, Kim YY, et al. The financial burden of asthma: a nationwide comprehensive survey conducted in the republic of Korea. Allergy Asthma Immunol Res 2011;3: Kim S, Kim J, Kim K, Kim Y, Park Y, Baek S, et al. Healthcare use and prescription patterns associated with adult asthma in Korea: analysis of the NHI claims database. Allergy 2013;68: Lee T, Kim J, Kim S, Kim K, Park Y, Kim Y, et al. Risk factors for asthma-related healthcare use: longitudinal analysis using the NHI claims database in a Korean asthma cohort. PLoS One 2014;9:e Kim S, Kim J, Park SY, Um HY, Kim K, Kim Y, et al. Effect of pregnancy in asthma on health care use and perinatal outcomes. J Allergy Clin Immunol 2015;136: e

7 Symposium 3: How to use open database from general population How to use open database from general population KNHANES (Korea National Health and Nutrition Examination Survey) data in atopic dermatitis 가톨릭의대서울성모병원피부과 이지현 Introduction Atopic dermatitis (AD) is a major global public health problem, affecting 1%-20% of people worldwide. The prevalence of AE in adults is about 1%-3%, and 10%-20%, in children. 1-3 AD is the most common form of eczema in childhood. Since 1960s, the prevalence of AE has increased more than 3-fold. 4 The International Study of Asthma and Allergies in Childhood (ISAAC) is a survey designed to investigate the prevalence of AE through the use of standardized epidemiologic tools. 5 In ISAAC Phase I ( ), about 715,033 children from 154 centers in 56 countries were recruited to estimate the prevalence of AE. In ISAAC Phase I, the prevalence of AE was found to be approximately 0.6%-20.5% of the population. 2 In 2009, the ISAAC Phase III ( ) study was published, which included data from centers in countries (1,049,109 children). 1 By comparing ISAAC phase I and III, we can clearly see that the prevalence of AE is rising. Notably, the global prevalence in the age group of 6-7 years in ISAAC Phase III (7.9%) was higher than that in ISAAC Phase I (6.1%).1 In ISSAC Phase III, Odhiambo et al. observed that disease prevalence in 6-7 year-old children from 143 centers in 60 countries ranged from 0.9% in India to 22.5% in Ecuador. 1 For the age group of years from 230 centers in 96 countries, disease prevalence ranged from 0.2% in China to 24.6% in Colombia. Another study conducted by the European Community Respiratory Health Survey reported that the 12-month prevalence of AE was 2.4% among adults age years. 6 In children, the rate was 6% in the United States, 9.2% in Switzerland. 7,8 In a recent national survey of the U.S., AE prevalence was 10.7% in children under 17 years. 9 In Japan, the prevalence of AE was estimated to be 11.8% for 6-7 years old and 10.5% for years old in , whereas the rate in elementary school children increased to 12.1% in ,11 The aim of this study was to determine the prevalence, geographic distribution, and risk factors of AD in Korean children based on data 231

8 obtained from the Korea National Health and Nutrition Examination Survey (KNHANES), a nationwide study representing both 7 cities and 9 provinces in Korea. Method This study utilized data from KNHANES The KNHANES was performed with an annual rolling sampling design including a complex, stratified, multistage probability cluster survey of a representative Korean population sample aged one year and above. 12 KNHANES was organized by the Korean Ministry of Health and Welfare and consisted of a cross-sectional survey composed of a health interview survey, a health examination survey, and a nutrition survey. KNHANES was conducted by specially trained interviewers or examiners who were not provided with any prior information about the participants. To evaluate the prevalence of disease based on age standardization, we used data from the 2005 Population and Housing Census, which was performed by Statistics Korea. 13 The survey results were weighted to represent the noninstitutionalized population nationally as well as in each province. A detailed description of the plan and operation of the survey is available on the KNHANES website ( A total of 9,308 (74.30%) out of 12,528 subjects, 10,078 (79.22%) out of 12,722 subjects, 8,473 (77.46%) out of 10,938 subjects, and 8,055 (76.07%) out of 10,589 subjects in 2008, 2009, 2010, and 2011, respectively, participated in KNHANES. In the present analysis, we limited the study population to children aged 1-18 years (8,947: 4,675 boys and 4,272 girls) among participants in KNHANES Table 1. Prevalence of AD in Korean children according to place of residence in details. Place of residence Total p-value Male p-value Female p-value Seoul 213 (13.49) 126 (14.99) 87 (12) Busan 70 (17.24) 42 (16.01) 28 (15.97) Daegu 75 (16.08) 35 (14.49) 40 (16.97) Incheon 79 (12.23) 44 (13.42) 35 (10.04) Gwangju 67 (16.28) 27 (14.71) 40 (17.83) Daejeon 49 (13.5) 20 (10) 29 (18.91) Ulsan 31 (9.55) 18 (8.29) 13 (10.46) Gyeonggi-do 314 (13.41) 176 (13.87) 138 (12.96) Gangwon-do 30 (13.48) 17 (14.51) 13 (12.24) Chungcheongbuk-do 33 (11.49) 14 (9.04) 19 (13.86) Chungcheongnam-do 48 (9.13) 20 (7.26) 28 (13.22) Jeollabuk-do 43 (10.87) 21 (10.02) 22 (11.95) Jeollanam-do 55 (13.35) 23 (9.51) 32 (17.5) Gyeongsangbuk-do 72 (13.98) 40 (16.23) 32 (11.73) Gyeongsangnam-do 69 (14.47) 28 (9.26) 41 (19.8) Jeju-do 37 (17.67) 21 (11.64) 16 (21.14) 232

이지현 :How to use open database from general population KNHANES (Korea National Health and Nutrition Examination Survey) data in atopic dermatitis Fig. 1.

9 이지현 :How to use open database from general population KNHANES (Korea National Health and Nutrition Examination Survey) data in atopic dermatitis Fig. 1. Prevalence of AD in Korean children according to place of residence Results Overall, 1,285 out of 8,947 children under 18 years old had a diagnosis of AD, which was translated into a 13.50% prevalence of AD in children nationwide. Many large cities in the southern area of Koreas such as Daegu (16.08%), Gwangju (16.28%), Busan (17.24%), as well as Jeju-do (17.67%), showed a higher prevalence of AD. On the other hand, AD prevalence was lower in middle parts of Korea, notably Chungcheongnam-do (9.13%). Interestingly, province location was significantly associated with disease prevalence in females (P=0.0286) (Table 1) (Figure 1). Discussion This is the first large-scale population-based study to examine AD prevalence according to geographic distribution among Koreans aged 18 years or younger. We found the prevalence of AD to be 13.50% (7.94%-19.80%) in Korean children who participated in KNHANES Our study revealed significant geographic variability in disease prevalence within Korea, with a higher prevalence in the lower latitudes and larger cities, namely, Daegu, Gwangju, Busan, and Jeju-do. Several previous reports suggested that the prevalence of AD in certain countries varies significantly between states and provinces. 9,14,15 According to a previous report based in Korea, the prevalence of AD in Jeju-do was 18.6%-30.5% in school-aged children (6-17 years of age). 16 We also observed a significant correlation between place of residence and prevalence of AD in girls. Although the etiology underlying this difference is unclear, we assume that environmental 233

10 factors, such as latitude, outdoor temperature, and humidity may play a key role in this observation. There were some limitations in this study that should be considered, especially recall bias and differential access to medical care according to region. The effects of sampling error were excluded because the study data comprised the entire population of Korea. Importantly, our results suggest that analysis of statistics from national surveys may be useful for investigating the prevalence of AD. In conclusion, this is the first nationally representative, population-based study to examine children with AD. In Korean children, AD prevalence appeared to depend on age, household income, and geographic distribution. References 1. Odhiambo JA, Williams HC, Clayton TO, Robertson CF, Asher MI, Group IPTS. Global variations in prevalence of eczema symptoms in children from ISAAC Phase Three. J Allergy Clin Immunol 2009;124: e Williams H, Robertson C, Stewart A, Ait-Khaled N, Anabwani G, Anderson R, et al. Worldwide variations in the prevalence of symptoms of atopic eczema in the International Study of Asthma and Allergies in Childhood. J Allergy Clin Immunol 1999;103: Williams HC. Is the prevalence of atopic dermatitis increasing? Clin Exp Dermatol 1992;17: Saito H. Much atopy about the skin: genome-wide molecular analysis of atopic eczema. Int Arch Allergy Immunol 2005;137: Asher MI, Weiland SK. The International Study of Asthma and Allergies in Childhood (ISAAC). ISAAC Steering Committee. Clin Exp Allergy 1998;28 Suppl 5:52-66; discussion Harrop J, Chinn S, Verlato G, Olivieri M, Norback D, Wjst M, et al. Eczema, atopy and allergen exposure in adults: a population-based study. Clin Exp Allergy 2007;37: Hanifin JM, Reed ML, Eczema P, Impact Working G. A population-based survey of eczema prevalence in the United States. Dermatitis 2007;18: Grize L, Gassner M, Wuthrich B, Bringolf-Isler B, Takken-Sahli K, Sennhauser FH, et al. Trends in prevalence of asthma, allergic rhinitis and atopic dermatitis in 5-7-year old Swiss children from 1992 to Allergy 2006;61: Shaw TE, Currie GP, Koudelka CW, Simpson EL. Eczema prevalence in the United States: data from the 2003 National Survey of Children's Health. J Invest Dermatol 2011;131: Saeki H, Iizuka H, Mori Y, Akasaka T, Takagi H, Kitajima Y, et al. Prevalence of atopic dermatitis in Japanese elementary schoolchildren. Br J Dermatol 2005;152: Saeki H, Oiso N, Honma M, Odajima H, Iizuka H, Kawada A, et al. Comparison of prevalence of atopic dermatitis in Japanese elementary schoolchildren between 2001/2002 and 2007/2008. J Dermatol 2009;36: Oh SW. Obesity and metabolic syndrome in Korea. Diabetes Metab J 2011;35: Rhee SY, Park SW, Kim DJ, Woo J. Gender disparity in the secular trends for obesity prevalence in Korea: analyses based on the KNHANES Korean J Intern Med 2013;28: Agata H, Kondo N, Fukutomi O, Hayashi T, Shinoda S, Nishida T, et al. Comparison of allergic diseases and specific IgE antibodies in different parts of Japan. Ann Allergy 1994;72: Poysa L, Korppi M, Pietikainen M, Remes K, Juntunen-Backman K. Asthma, allergic rhinitis and atopic eczema in Finnish children and adolescents. Allergy 1991;46: Bae JM, Shin KS. [Estimating the prevalence of atopic dermatitis in school students of jejudo, Korea]. J Prev Med Public Health 2009;42:

11 Symposium 3: How to use open database from general population 정밀의료 (Precision Medicine) 에서의 Prospective community cohort data 활용 고려의대호흡기내과 신 철 정의 정밀의료 (Precision Medicine) 란개인의환경, 유전, 생물학적특성등을고려한질병의세분화를통해개인의상황에따른질병예측및예방, 맞춤진료및치료를위한포괄적개념의연구와의료행위를의미한다. 과학적근거 현재까지의질병예측모델이개개인을위한맞춤의료에는다소부족한점이있다. 그한예로미국의프래밍햄연구 (Framingham heart study) 의질병예측모델에서는개인이아닌전체적인인구집단의질병예측모델을이용한질병예측방법으로정확도에있어서도 70~80% 내외로개인맞춤의학을하기에는부족한점이많았다. 최근들어, 근거중심의학이발달로인하여유전자검사, 유전자의기능연구그리고미시적단계의진단표지자 (Boimarker) 가개발됨으로써개인의맞춤의학에가까워졌지만아직도많은부분에서의심도깊은연구가더필요하다. 또한개인맞춤의학을위한질병예측모델의새로운방향을위해서현재까지알려진질병관련유전자또는분자생물학적 Biomarker을질병예측모델에추가하여질병예측도를높이는것이필요하다. 이를위해서대규모의전향적연구 (Cohort study) 가필요하고, 이를바탕으로질병의원인과결과에따른이해도를높이고, 그중간에 Biomarker와분자생물학적인기전을설명함으로써향후좀더근거중심의의학으로개인맞춤의학을더욱더향상시킬수있을것이다 (Figure 1) 실행방법 정밀의학을실행하기위해서는만성질환 ( 뇌질환, 심장질환, 대사증후군, 당뇨등 ), 암, 희귀난치성질 235

12 Fig. 1. Flowchart of Precision Medicine Fig. 2. Biomedical knowledge Network for basic and clinical medicine for Precision Medicine 환등의기초연구역량을강화가필수적이다. 이를위해서오믹스 (Omics (Genomics, Transcriptomics, Proteomics, Metabolomics, Metagenomics등 )), 분자수준의연구, 환경과생활습관을이용한다학제간연구가병행되어야만한다. 또한이들결과들을이용한질병네트워크규명을통해서질병의원인과진단표지자를발굴하는것은인구집단기반의의료행위 (population based medical practice) 에서개인기 236

13 신철 : 정밀의료 (Precision Medicine) 에서의 Prospective community cohort data 활용 반의의료행위 (sub-population based medical practice) 로의변화를위한기초가될것이면, 이는질환의진료와치료를세분화하여오진을줄이고정확한진단을할수있으며, 치료에있어서도개인에맞는치료를함으로써치료의민감도를올리고그로인해성공률을올리고부작용을줄일수있다. 결과적으로의료비용의불필요한지출을줄이고환자에게필요한약물의부작용을줄일수있기때문에치료의순응도는획기적으로올릴수있는미래지향적인보건의료체계방향으로보여진다 (Figure 2). 이를위해서는장기적대규모의전향적연구를통해오믹스-환경 / 습관과의상호관련성이어떤질환과질병을유발하는지, 또위험요인이얼마나노출되면질병으로진행되는지, 어떤진단표지자들이나타남으로인해서이런질환과의상관관계를이루고있는지를장기적인역학연구를살펴봄으로인해서정밀의학내지는개인의맞춤의학에쉽게접근할것으로예측이된다. 결론 정밀의학은보건의료시대의새로운미래의모습이다. 수많은연구결과들은다학제간의연구결과를바탕으로새로운진료와치료를펼침으로인해서그효과를극대화시킬수있다고생각되고, 앞으로의미래지향적인진료방향이라고생각된다. Reference N Engl J Med 2015; 372: A New Initiative on Precision Medicine. 237

한국성인에서초기황반변성질환과 연관된위험요인연구

한국성인에서초기황반변성질환과 연관된위험요인연구 한국성인에서초기황반변성질환과 연관된위험요인연구 - - i - - i - - ii - - iii - - iv - χ - v - - vi - - 1 - - 2 - - 3 - - 4 - 그림 1. 연구대상자선정도표 - 5 - - 6 - - 7 - - 8 - 그림 2. 연구의틀 χ - 9 - - 10 - - 11 -