Studies that indicate that autism is genetic are often roundly decried by those who believe that autism is caused by vaccines, or thimerasol, or other environmental, “extra-genetic” factors. Remarks such as “there can’t be a genetic epidemic” and “what is causing genes to mutate” are frequently offered. On the other hand, such statements suggest that more education in genetics and its terminology would be helpful in understanding why it is highly unlikely that some single “autism gene” can be found, and even some one factor that is causing genes to “mutate.”
Epidemiologist and biotech consultant Dr. Hsien-Hsien Lei notes how a recent article on cancer risk in the LA Times confused the terms “gene” and “gene mutation”l the newspaper then offered this correction:
Genetics: An article on cancer risk in Monday’s Health section referred in some places to the BRCA1 and BRCA2 genes as increasing the risk for some types of cancer. The genes themselves are not responsible; certain mutations of those genes are what increase the risk of the disease.
The BRCA1 mutation is one of two gene mutations (the other is BRCA2) associated with an increased risk of hereditary breast and ovarian cancer, as Dr. Lei further explains:
More than 1,000 mutations have been identified in the BRCA1 gene alone. People don’t test positive for THE mutation in the BRCA genes thus implying that there is only one. They test positive for A mutation or perhaps even MORE THAN ONE mutation. Also, there are different types of genetic tests for BRCA1 and BRCA2 – full sequencing of the genes, multisite testing, or single site testing. A person may have one or more mutations in his/her BRCA1 and BRCA2 genes but not all of the mutations, if any, lead to an increased risk of breast and/or ovarian cancer.
Another Eye on DNA post highlights a recent question and answer session about BRCA genetic testing for breast and ovarian cancer susceptibility. Further, a recent podcast on Pure Prevention seeks to educate women about the environmental causes of breast cancer.
Dr. Lei asks “What level of understanding should we have in order to fully take advantage of the genome revolution?” In view of the fact that a prenatal genetic test might someday be developed for autism and continued advances in the study of autism genetics, I prefer to know more than less about genetics, and more, therefore, about Charlie, and about autism.