New methods speed up disease diagnoses in newborns

New sequencing techniques and machine learning can more quickly diagnose diseases in newborns, as well as cut down the number of false-positives, according to researchers

By Allen Cone, UPI

Researchers have developed new sequencing techniques and machine learning to more quickly diagnose diseases in newborns, as well as cut down false-positives.

By using their new data analysis method, researchers at Yale were able to examine an entire metabolic profile rather than previous methods that focus on a fraction of data collected.

The research, which was published Wednesday in the journal Genetics in Medicine, found the sequencing method correctly identified 89 percent of newborns with methylmalonic acidemia, an inborn metabolic disorder that can lead to fatal neonatal disease.

In a database review of California newborns, more than 500 babies were falsely identified as having the disorder, compared to 100 that were correctly diagnosed with the condition.

"By combining sequencing with our novel machine learning, we've made a big difference in reducing MMA false-positive results," senior author Curt Scharfe, an associate professor of genetics at Yale, said in a press release.

Families then go through the anxiety of going through a battery of tests to confirm the diagnosis.

"The time until confirmation is stressful for families, places a burden on the health care system and in some cases could delay the right treatment for these infants." Scharfe said.

Currently, blood drawn from a pinprick of an infant's heel shortly after birth is analyzed for preventable diseases.

The researchers sequenced 72 metabolic genes from newborn dried blood spots, and analytical and clinical performance was evaluated in 60 screen-positive newborns for methylmalonic acidemia. The researchers also trained a Random Forest machine learning classifier to help improve diagnosis.

The researchers believe the new sequencing and data analysis can be used to complement existing routine blood work to avoid lengthy testing and speed up the treatment for babies.

Using the sequencing and data analysis, the researchers also clinically validated a test for cystic fibrosis.

Ultimately, they said they hope to implement the new testing methods at hospitals worldwide.


Note: If you think this story need more information or correction, feel free to comment below your opinion and reaction.

Fitness,36,Health,1479,Health Care,7,Health News,1430,Mental Health,6,
Health News: New methods speed up disease diagnoses in newborns
New methods speed up disease diagnoses in newborns
Health News
Loaded All Posts Not found any posts VIEW ALL Read More Reply Cancel reply Delete By Home PAGES POSTS View All RECOMMENDED FOR YOU LABEL ARCHIVE SEARCH ALL POSTS Not found any post match with your request Back Home Sunday Monday Tuesday Wednesday Thursday Friday Saturday Sun Mon Tue Wed Thu Fri Sat January February March April May June July August September October November December Jan Feb Mar Apr May Jun Jul Aug Sep Oct Nov Dec just now 1 minute ago $$1$$ minutes ago 1 hour ago $$1$$ hours ago Yesterday $$1$$ days ago $$1$$ weeks ago more than 5 weeks ago Followers Follow THIS PREMIUM CONTENT IS LOCKED STEP 1: Share. STEP 2: Click the link you shared to unlock Copy All Code Select All Code All codes were copied to your clipboard Can not copy the codes / texts, please press [CTRL]+[C] (or CMD+C with Mac) to copy