Full Exome Sequencing: What Is It?
Often when we are navigating the difficult path of diagnoses, especially when related to joint hypermobility, genetic testing is something that comes up. But unfortunately, genetic testing seems to be one of the more complicated diagnostic tools. And this in itself can be frustrating, because genetic testing is also our best shot at getting a concrete diagnosis.
When you first see a geneticist in regards to joint hypermobility, it is often rooted in a want for an official diagnosis, with the name, treatment plan, and guidance to help us navigate this difficult course. But this can be difficult with some kinds of joint hypermobility, especially for hEDS, since there is no gene variant known yet. But this doesn’t mean that genetic testing isn’t a helpful tool for those with hypermobility.
Full exome sequencing, is a genomic technique for sequencing all of the protein-coding regions of genes in a genome, and is used for patients whose medical and family histories suggest a genetic cause for their signs and symptoms. In more general terms, scientists take our blood and compare our genetic variants to that of the general population. This helps them see where any gene variances or mutations are! Exome sequencing is a long - and sometimes expensive - diagnostic tool, and normally takes 6-8 months from the initial blood draw to get results.
But what is the “efficacy” of these tests? While exome sequencing is fairly new, they are capable of capturing >99.4% of the exome with a quality enabling reliable variant calls. This means, they are able to compare about 99% of our genes to that of a control group in order to see where a mutation might be. And while 99% seems like a lot, there are still many conditions in which we don't know their genes. Hypermobile Ehlers Danlos is a perfect example.
Scientists have been able to pinpoint the specific gene mutation/inheritance that causes most types of connective tissue disorders, but there are still many conditions were more research needs to be done. But with the proper awareness and funding, we can get more information to geneticists to help find those missing genes!
Be sure to consult with your primary care physician or other medical professionals in regards to your medical concerns. This text cannot and should not replace advice from the patient's healthcare professionals. Any person who experiences symptoms or feels that something may be wrong should seek individual professional help for evaluation and/or treatment. This information is for guidance only.