On March 31, 2022, the NIH announced in a press release that “scientists have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft human genome sequence. According to researchers, having a complete, gap-free sequence of the roughly 3 billion bases (or “letters”) in our DNA is critical for understanding the full spectrum of human genomic variation and for understanding the genetic contributions to certain diseases.” Click to read the complete press release.
Why does this matter to people with epilepsy? Because research is identifying more and more that the causes of the epilepsies are genetic.
What should people with epilepsy do? Discuss with your doctor the need for a genetic test and your options.
What to know about genetic tests? There are many types of genetic tests. Some tests focus on individual genes, groups of genes, or chromosomes.
The most common types of genetic testing are:
- Epilepsy Gene Panel: This test involves the analysis of the most common genes associated with epilepsy. There are many types of epilepsy gene panels. Some have fewer than 20 genes and others have many hundreds of genes.
- Chromosome Microarray. This genetic test involves analysis of a person’s chromosomes (structures that contain DNA). Checks to make sure there are no imbalances that could cause epilepsy. Imbalances include extra or missing pieces of chromosomes – or – extra or missing entire chromosomes.
- Whole Exome Sequencing: This complex genetic test involves analysis of the entire DNA code to look for changes in genes associated with epilepsy. It is similar to the epilepsy gene panel, but looks at a much larger number of genes, including rare and newly discovered genes.
- Targeted Testing: If there is already a known genetic cause of epilepsy in a person, other family members may have targeted testing to help clarify their risk.