Showing posts with label DNA screening. Show all posts
Showing posts with label DNA screening. Show all posts
Monday, October 2, 2017
How Much of Autism is Genetic?
For a long time, autism wasn't understood well about where it comes from, and many people would argue. Nature vs. nurture: whether or not autism was a result of genetic makeup, or was a symptom of the environment (childhood experiences, vaccinations, etc). In a study published in the Journal of the American Medical Association, and reported by Time Magazine, genetics was stated to account for about 83% of the disorder. A number of different case study designs were utilized including the study of identical twins, non identical twins, siblings, and parent/child relationships. What the study concluded was that a substantial proportion of autism causation could be traced back to genetics and a child's DNA could eventually be used as a predictor for if and when autism presents itself. The research is still in it's infancy, as the study only reported on the correlation between certain gene features and the presence of autism. Even though this study provides valuable insight into the nature of autism, and could lead to earlier and better diagnosis, as well as better treatment and care for autistic people, it does open up new issues to be dealt with. Should babies get screened for autism? Could knowing you're having an autistic baby be a valid reason for abortion? The scientific value of this study is great, but what kinds of moral and ethical implications is it going to entail? I think that although this is great knowledge to have about the condition, it is going to be the beginning of new moral and ethical controversies, similar to those we've had in the past over Down Syndrome and the like.
Labels:
abortion,
Autism,
babies,
DNA screening,
genes,
inheritance,
JAMA,
mutation,
nature vs nurture,
twins
Sunday, February 7, 2016
New DNA Technology for Screening Cystic Fibrosis in New Borns
Cystic Fibrosis is the most common fatal disease in the U.S. It causes mucus to build in the lungs, pancreas, and other organs,leading to frequent infections. CF is caused by a mutation on the CFTR gene which regulates the movement of water and salt out of the body's cells. The genetic disease affects about 3,900 babies each year. Every state screens for CF, California currently screens 40 of the most common mutations of the CFTR gene but there are more than 2,000 known mutations that can affect the gene. The current screening is a long process just for one newborn.
The screening involves several analyses, including a simple enzyme test, the current DNA test, and if positive in all aspects, there are additional tests to be sure of the disease. Though many times these tests can still result in a false reading. At Stanford University scientists say they've found a more accurate and comprehensive DNA test screening. They have claimed that the new test is more efficient and cost effective, and it may also improve screening for non-white babies in which it is more rare and harder to diagnose.
The new test uses "next generation" DNA sequencing that can quickly and more cheaply look at the entire CFTR gene instead of just looking for the specific mutations. The researchers say this advanced technology can help labs to look at many newborn samples at once rather than just a few. The lab is currently running a side by side comparison of the old test and the new one. The researchers are looking to meet with public state health officials within the year to discuss the next steps.
I think this is a great new technology that is much needed for all states. Because Cystic Fibrosis affects about 30,000 children and adults and about 10 million are carriers- meaning they can pass it on to their children-and it is so fatal, that there needs to be more of a accurate screening for when the children are born. So many cases are misdiagnosed or completely missed all together, this can help, especially with the minorities.
The screening involves several analyses, including a simple enzyme test, the current DNA test, and if positive in all aspects, there are additional tests to be sure of the disease. Though many times these tests can still result in a false reading. At Stanford University scientists say they've found a more accurate and comprehensive DNA test screening. They have claimed that the new test is more efficient and cost effective, and it may also improve screening for non-white babies in which it is more rare and harder to diagnose.
The new test uses "next generation" DNA sequencing that can quickly and more cheaply look at the entire CFTR gene instead of just looking for the specific mutations. The researchers say this advanced technology can help labs to look at many newborn samples at once rather than just a few. The lab is currently running a side by side comparison of the old test and the new one. The researchers are looking to meet with public state health officials within the year to discuss the next steps.
I think this is a great new technology that is much needed for all states. Because Cystic Fibrosis affects about 30,000 children and adults and about 10 million are carriers- meaning they can pass it on to their children-and it is so fatal, that there needs to be more of a accurate screening for when the children are born. So many cases are misdiagnosed or completely missed all together, this can help, especially with the minorities.
Labels:
CFTR gene,
cystic fibrosis,
DNA screening,
Newborns
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