New Genetic Test can speed up diagnosis

There are over 200,000 children worldwide that are diagnosed with congenital cataracts every year and with a new blood test emerging December of this year the diagnoses of their illness and the treatment will come much faster than before. In conventional screenings for congenital cataracts the test would screen every gene individually to pinpoint the exact cause of the illness. This conventional screening though effective, is very costly and time consuming because there are over 100 genes with mutations that cause congenital cataracts and it takes 4 weeks just to screen and examine one gene. So sometimes children and their parents would have to wait years in order to receive a diagnosis and treatment plans, but the new genetic blood test can speed up the diagnosis process. With genetic sequencing doctors can look at all the genes at once in parallel with each other which makes the new test cost effective and time friendly. 

Though doctors aren't exactly positive on what the causes are for congenital cataracts in children, they believe that half is due to a genetic mutation and the other half is due to environmental factors that took place during pregnancy. It is also said that cataracts are not a standalone problem but a more complex one that shows its self with other symptoms and diseases such as Warburg Micro syndrome and galactokinase deficiency. These symptoms and diseases often go under diagnosed  because they are subtle in children, but with genetic sequencing and more tests to be conducted each day. Doctors become more knowledgeable on what causes congenital cataracts, how the will grow and progress,what type of treatments patients will undergo and the outcome of those procedures.

Barbuti,Allison. "Genetic Testing Speeds Up Diagnosis for Children with Congenital Cataracts."  http://www.manchester.ac.uk/aboutus/news/display/?id=10662. 16 Sept. 2013. Web. 22 Sept. 2013.   

 I chose this article because I thought it was very interesting and surprising. I didn't realize that there were so many children affected with cataracts each year, nor did I know what types of tests doctors have used in order to diagnose their patients. I find it pretty amazing that with new technology, children are getting the help they need much faster and for a slightly reduced amount of money.