Publication date: 13 Dec 2017
Rare Genomics Institute (RG) has led the way in supporting undiagnosed rare disease patients access next generation sequencing since 2011. At a time when clinical whole exome sequencing was still largely done only in the research setting, RG worked with these laboratories (mainly in research universities) to sequence undiagnosed patients and actually return the results for clinical follow up.
Next generation sequencing refers to the methods scientists use to sequence a human genome. A genome is a person’s complete set of DNA, and is contained in every cell of the body that has a nucleus. The genome includes genes, which can be changed or altered. Sometimes, these changes or alterations can cause disease or a specific disorder. The costs of these tests are often extremely expensive.
From helping families raise funds or achieve insurance coverage for the test, everyone at RG could never have imagined that one day we would be able to tell a family that they do not need to worry about the cost. Much less for a type of test like whole genome sequencing, whose sequencing and interpretation require tremendous technological and analytical support.
While we did not have funding to cover this test for our families, through the generosity of Illumina Inc., we were able to create and grow a philanthropic program called iHope aimed at providing this test to undiagnosed children that needed it, at no cost. Since our launch on December 6, 2016, over 50 undiagnosed children have received free trio whole genome sequencing, a highly complex test that is ordered when doctors suspect that there is an alteration or change in a person’s DNA that has caused specific medical problems.
One child who was helped through the iHope program is Joaquin. Joaquin is a child from Chile who suffers from seizures, autism, strange eye movements, trouble feeding, immune system irregularities as well as generalized and progressive dystonia leaving him confined to a wheelchair. His father Ignacio, a miner in Chile, first came to RG in 2012 after already spending 3 years searching for an answer for Joaquin’s illness. Joaquin’s journey with us has encompassed whole exome sequencing and research studies in collaboration with researchers from Washington University in St. Louis and Canada, which revealed mutations in a gene that regulates the movement of fat in the brain and offered the possibility of a lysosomal lipid storage disease. This year, we were able to get Joaquin free clinical whole genome sequencing through iHope and with it, he finally has his answer. He was 19q13.11 microdeletion syndrome and dystonia type 28. Of note, he has a whole gene deletion of the KMT2B gene. Joaquin is just one of the children that has been diagnosed through this unprecedented program, and we hope there will be many more success stories to report.