자폐증 진단을 간단한 혈액검사로...곧 상용화된다는 소식(보스톤 아동병원 연구)

 

방금 읽은 Disability Scoop에 따르면

보스턴 아동병원 연구진이 혈액검사로 간단하게 자폐증 위험군을 테스트하는 법을 개발해서 빠른 시일 내에 상용화한단다.

 75%정확도라 하니 기대가 크다. 미국의 통계에 따르면 평균 4살에 진단을 받는다고 전하니 

조기 중재가 치료의 가장 큰 관건인 자폐증 치료에는 획기적인 발전이라 할 수 있다.

1살 이전에 발견하여 바로 치료에 들어가면 그만큼 빨리 호전되어 장애 당사자나 가족의 어려움을 덜 것이다.

하루 빨리 상용화되기를 기다린다. 연구자님들...진심으로 고맙습니다.

 

 

http://www.disabilityscoop.com/2012/12/07/autism-blood-test/16911/

Autism Blood Test Shows Promise

By Shaun Heasley

December 7, 2012

 

Diagnosing autism could soon be much simpler, with researchers saying this week that they’ve developed a blood test that appears to identify those with the disorder even before symptoms are apparent.

The early-stage test developed at Boston Children’s Hospital may be able to flag about two-thirds of those with autism, researchers reported in the journal PLOS onE. Currently, clinicians rely on observation to screen children for autism. Most kids are not diagnosed until after age 4, according to the U.S. Centers for Disease Control and Prevention.

But a blood test offers the promise of flagging kids and potentially enrolling them in early intervention programs even before symptoms appear.

In order to develop the test, researchers analyzed blood samples from 66 boys with autism and 33 without the developmental disorder in an effort to establish patterns. Ultimately, the scientists were able to focus on a group of 55 genes that they used to successfully identify autism with 68 percent accuracy in a second test group made up of 104 people with autism and 82 controls.

“It’s clear that no single mutation or even a single pathway is responsible for all cases,” said Isaac Kohane of Boston Children’s Hospital who worked on the research. “By looking at this 55-gene signature, which can capture disruptions in multiple pathways at once, we can say with about 70 percent accuracy, ‘this child does not have autism,’ or ‘this child could be at risk,’ putting him at the head of the queue for early intervention and evaluation. And we can do it relatively inexpensively and quickly.”

The blood test is not yet ready for prime time, researchers said, but it has been licensed to the company SynapDx for further exploration and potential commercialization.