Sharing your genetic test results showed that it could help in the advancement in autism research like stated in Spectrum News. These results raised the percentage of genetic explanation, from 3 percent to 25 percent, of cases of autism in the past five years. With these test and results, it helped families receive clarification of their children's diagnosis and showed them what to expect with their children's condition based off of another test with similar diagnoses.
Sharing results helped to further autism research and allowed more research on the effects of different genetic variants involved with autism. There were times that genetic variants were clear and showed other underlying conditions associated with that variation of autism. One case showed a form of juvenile diabetes that was caused due to the deletion of part of a chromosome that also caused this person's autism.
Although these tests can reveal these different variants to autism, sometimes it does not, but their test is still important in the main goal of finding the function of certain genes and results of variants. The inconclusive test could open doors for more research. In these cases, these tests are taken and placed into a database, like ClinVar, where it notifies you when new information about your variant is made known.
Overall, if waiting for ClinVar or given resources for your variant, I think sharing your genetic test results could help in the advancement of autism; whether it is directly to your cases or autism as a whole. Any information about autism could help in its research even if its new to the researchers.
I found this post to be extremely interesting! It highlights one of the positive aspects of sharing genetic information. Researchers have been trying to determine the cause of autism for decades now, so having a multitude of DNA to sift through may bring them the answers they have been searching for. It is also crazy that a deletion of part of a chromosome caused an individual to develop both a form of juvenile diabetes and autism spectrum disorder.ReplyDelete