차세대 신생아 선별검사에 대한 전망
Perspectives on Next-Generation Newborn Screening
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초록
신생아 선별검사는 증상이 없는 신생아를 대상으로 질환을 조기에 발견하여 치료함으로써 합병증 및 사망률을 감소시키기 위해 도입된 프로그램이다. 꾸준한 기술적 진보를 통해 신생아 선별검사 프로그램은 공중보건 향상에 크게 기여하였다. 1960년대 초반 R. Guthrie에 의해 세균억제법이 개발된 이후, 프로그램은 여러 나라로 널리 확대 시행되었다. 이후, 탠덤질량분석법이 개발되어 지방산질환 및 유기산질환, 최근에는 리소좀축적질환까지 선별할 수 있게 되었다. 탠덤질량분석법을 이용하면 단시간 내 여러 물질을 동시에 분석할 수 있어, 선별검사 프로그램 향상에 획기적 기여를 하였다. 현재 국내에서는 신생아의 80% 정도에서 탠덤질량분석법을 이용하여 신생아 선별검사를 시행한다. 향후에는 차세대유전체분석법의 적용에 의해 현행 신생아 선별검사 프로그램이 더 향상이 될 것으로 기대된다. 차세대유전체분석법을 신생아 선별검사 프로그램의 일환으로 통합하기 위해서는 분석적 타당성, 임상적 타당성, 임상적 유용성 및 윤리적·법적·사회적 이슈 등을 집단선별검사라는 관점에서 고려하여야 한다. 이에 본 종설에서는 신생아 선별검사의 현황, 집단선별검사 기준, 차세대유전체분석법의 최신 동향을 살펴보고, 차세대유전체분석법을 신생아 선별검사에 적용 시, 고려사항 및 기회 및 해결과제 등에 대해 논의하고자 한다.
Abstract
Newborn screening (NBS) has been effective for detecting asymptomatic newborns with inherited metabolic diseases and has facilitated early clinical intervention, which has resulted in significant decreases in the rates of morbidity and mortality caused by these diseases. The outcome of the NBS program heavily depends on technological advances. Since Dr. Robert Guthrie developed a bacterial inhibition assay to screen for metabolic diseases in the early 1960s, use of the NBS program has spread to many countries. Tandem mass spectrometry (TMS) was a second major technological breakthrough that has allowed screening to be extended to disorders of fatty acid and organic acid metabolism as well as to those of amino acid metabolism, and recently screening has also been expanded to include lysosomal storage diseases. TMS can detect multiple analytes rapidly and simultaneously and is currently applied to nearly 80% of the newborn population in Korea. Next-generation sequencing (NGS) technology could be another major breakthrough to improve the current NBS program. To integrate NGS into the NBS program, various considerations about its analytical validity, clinical validity, clinical utility, and ethical, legal, and social implications should be addressed on the basis of population screening. Here, the authors review population screening criteria, the current status of NBS, and recent advances in NGS. In addition, we discuss the practical and ethical issues, opportunities, and challenges regarding the implementation of NGS in NBS.
참고문헌 (29)
- Centers for Disease Control and Prevention, "Ten great public health achievements--United States, 2001-2010", MMWR Morb Mortal Wkly Rep, 60, pp.619~623 (2011)
- Guthrie R, "A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants", Pediatrics, 32, pp.338~343 (1963)
- Millington DS, "Tandem mass spectrometry : a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism", J Inherit Metab Dis, 13, pp.321~324 (1990)
- Lee DH, "Neonatal screening for inborn errors of metabolism", J Korean Pediatr Soc, 30, pp.9~16 (1987)
- Lee DH, "Neonatal screening test", J Korean Med Assoc, 37, pp.1464~1480 (1994)
- Plans to improve the mass screening tests on inborn errors of metabolism in Korea, "Han YJ", Korean Public Health and Society Research Center in Department of Ministry of Health and Welfare in Korea, 51~68 (2000)
- The analysis of the current status and improvement of neonatal screening test for prevention of mental retardation, "Lee DH", 1~167 (2004)
- Analysis of blood sample records for neonatal screening test and external quality assessment for inborn errors of metabolism in Korea: Ministry of Health & Welfare, "Choi TY", Planned Population Federation of Korea, ~ (2005)
- Yoon HR, "Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report", Clin Chim Acta, 354, pp.167~180 (2005)
- Pampols T, "Inherited metabolic rare disease", Adv Exp Med Biol, 686, pp.397~431 (2010)
- "NIH program explores the use of genomic sequencing in newborn healthcare"[URL]
- Wilson JM, "Principles and practice of mass screening for disease", Bol Oficina Sanit Panam, 65, pp.281~393 (1968)
- Bredenoord AL, "Next-generation sequencing: does the next generation still have a right to an open future?", Nat Rev Genet, 14, pp.306~ (2013)
- Schulze A, "Evaluation of 6-year application of the enzymatic colorimetric phenylalanine assay in the setting of neonatal screening for phenylketonuria", Clin Chim Acta, 317, pp.27~37 (2002)
- Schulze A, "Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications", Pediatrics, 111, pp.1399~1406 (2003)
- Wilcken B, "Screening newborns for inborn errors of metabolism by tandem mass spectrometry", N Engl J Med, 348, pp.2304~2312 (2003)
- Mak CM, "Inborn errors of metabolism and expanded newborn screening : review and update", Crit Rev Clin Lab Sci, 50, pp.142~162 (2013)
- "FDA News Release : FDA allows marketing of four “next generation” gene sequencing devices"[URL]
- "Thermo Fisher lists its ion PGM DX System as class II clinical medical device"[URL]
- Almond B., "Genetic profiling of newborns: ethical and social issues", Nat Rev Genet, 7, pp.67~71 (2006)
- Human Genetic Commission, "Profiling the Newborn: a Prospective Gene Technology" (2005), Human Genetic Commission
- Dehm SM, "Test-firing ammunition for spliceosome inhibition in cancer", Clin Cancer Res, 19, pp.6064~6066 (2013)
- van El CG, "Whole-genome sequencing in health care : recommendations of the European Society of Human Genetics", Eur J Hum Genet, 21, pp.580~584 (2013)
- Goldenberg AJ, "Parents’ interest in whole-genome sequencing of newborns", Genet Med, 16, pp.78~84 (2014)
- Bhattacharjee A, "Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing", Genet Med, 17, pp.337~347 (2015)
- "ACCE model process for evaluating genetic tests"[URL]
- Hollegaard MV, "Archived neonatal dried blood spot samples can be used for accurate whole genome and exome-targeted next-generation sequencing", Mol Genet Metab, 110, pp.65~72 (2013)
- Holtzman NA, "ACMG recommendations on incidental findings are flawed scientifically and ethically", Genet Med, 15, pp.750~751 (2013)
- ACMG Board of Directors, "ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing", Genet Med, 17, pp.68~69 (2015)