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메디사피엔스, 신생아 희귀병 200여종 AI진단..”美서 승부” - 바이오스펙테이터

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메디사피엔스, 신생아 희귀병 200여종 AI진단..”美서 승부”

입력 2020-05-11 12:52 수정 2020-05-14 11:27

바이오스펙테이터 봉나은 기자

이 기사는 '프리미엄 뉴스서비스 BioS+' 기사입니다.
유전체+인공지능 기술 결합 플랫폼 개발.. 서울대병원 1·2차 파일럿 연구서 “질환관련 유전자 변이 분석 정확도 100% 입증”..미국 소재 대형종합병원에 NICU 패널 공급 추진

▲강상구 메디사피엔스 대표

“우리는 신생아 집중치료실(NICU)에 입원한 신생아에서 치료법이 있는 200~300여종의 희귀질환을 인공지능과 유전체 데이터를 활용해 임상의가 1주 이내에 신속하고 정확하게 진단을 내릴 수 있도록 돕는 서비스를 제공하는 것이 목표다.”

강상구 메디사피엔스 대표는 200여종의 희귀 유전질환 진단을 돕는 핵심 플랫폼에 대해 이같이 소개했다. 서울대 제어계측공학과를 졸업 후 미국으로 건너가 JP모건, 도시바, 3M 등에서 일한 그는 국내 디엔에이링크를 거쳐 2016년 메디사피엔스를 창업했다. 메디사피엔스는 AI 기술 기반의 희귀 유전질환 진단보조 서비스를 통해 글로벌 헬스케어 빅데이터 산업으로의 진출을 기대하고 있다.

전세계 희귀질환 환자는 4억명에 이른다. 희귀질환의 약 80%는 유전성 질환이며 절반 이상이 소아에서 발병한다. 이러한 유전성 희귀질환을 앓는 소아 환자는 조기에만 정확히 진단해도 적절한 조치나 치료를 통해 증상이 악화되거나 사망할 위험을 피할 수 있다. 그러나 유아기에 증상이 발현하지 않거나 발현된 증상만으로는 질환을 확진하기 어려운 환자는 치료 시기를 놓쳐 질환명도 모른 채 사망하기도 한다. 이러한 소아 환자의 약 30%는 5세 이전에 사망한다고 알려져 있다.

메디사피엔스는 신생아의 혈액샘플 소량을 이용한 검사 1회만으로 주요 특정질환 200여종과 관련된 250여개 유전자(actionable gene)를 분석하고, 1주 내 도출된 결과를 전달해 임상의가 신속하고 정확하게 질환을 확진할 수 있도록 돕는 진단보조 서비스를 구상했다. 이를 통해 메디사피엔스는 임상의가 환자를 검사하고 질환을 확진하기까지 소요되는 시간을 줄이고, 환자가 받는 진단비용에 대한 부담도 줄일 수 있을 것으로 전망하고 있다....

'프리미엄 뉴스서비스 BioS+'는 독자들에게 가치(value)있는 기사를 제공합니다.
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