Joining Fabric Genomics

A few weeks ago, I had an opportunity to listen to a rare disease patient’s story. The speakers were medical experts who had worked on the case as well as the parents of the three-year-old patient. The mother began the story by describing the joy of having their son, Hudson. For the first twelve months of his life, she described a typical life filled with laughter and first experiences such as when he called her Mommy and walked on his own. Shortly after Hudson turned one year old, he started having some breathing issues. His mom noticed he was gasping for air. His parents took him to the pediatrician, who referred them to an Ear Nose, and Throat (ENT) specialist. The specialist diagnosed him with vocal cord paralysis, resulting in him having just a small passageway to breathe. Hudson also exhibited other symptoms such as droopy eyelids and extreme fatigue. The ENT immediately scheduled several other diagnostic tests to try to figure out what was going on with Hudson. They started him on a treatment plan based on the preliminary diagnosis, but he wasn’t improving. Next came the tracheostomy, which inserted a tube in his throat so he could breathe and eat soft foods. Unfortunately, Hudson’s health did not improve. In fact, he started regressing more quickly, resulting in hearing loss and vision problems. Basically, his organs were failing. After months of anguish, someone recommended for Hudson’s parents to reach out to Rady Children’s Institute for Genomic Medicine. Located in San Diego, the center leverages whole genome sequencing to diagnose rare diseases, even winning them a Guiness World of Record in Feb 2018 for their speed in sequencing. A few days later, the result came back; his parents cried. Hudson had a rare disease called Riboflavin Transporter Deficiency. It was treatable. He just needed to take Riboflavin or Vitamin B2.

Fast forward a year, Hudson is now three years old. He has gotten a Cochlear implant to help him with his hearing, a trachea implant to help him breathe, a G-Tube that feeds him his medication and the majority of the nutrition he needed, and glasses to help with his vision loss. He had to relearn how to speak and do everything again. He still hasn’t been able to say “Mommy” because he has a hard time saying the “M” sound with his current impairment. The good news is that he is running around, talking to his parents, and being a rambunctious three-year-old as he should be. Yet, his parents wonder how different life would be for him if they have learned about his rare condition earlier on – perhaps as a part of his newborn screening.

There have been cases of children born with this disease, and are able to develop healthily after being given Vitamin B2 during pregnancy and/or earlier on in their childhood. Unfortunately, because the condition is so rare, estimated to be one in a million, this condition isn’t part of newborn screening. Riboflavin Transporter Deficiency is a condition that is only detectable by molecular testing. Genomic testing is not the standard of care unless the parents know ahead of time that they have a chance of giving birth to a child with a specific condition. Why genomic testing is not a standard of care, based on some opinions, is due to the high cost of sequencing, the fact that some patients are not ready to know their genome and their risks , and the fact that interpreting genomic results is a daunting task that clinicians are not ready to take on.

The good news is that as I am writing this post, the cost of sequencing has gone down significantly, patients are now ready to understand genomic data (COVID made genetics more common knowledge now), and there are companies out there to help with clinical interpretation of genomic data. One, in particular, is Fabric Genomics . Based in Oakland, California, Fabric Genomics has developed a platform to help clinicians understand the genomic reason behind rare hereditary diseases. What’s unique about the Fabric platform is the AI component that helps organize and prioritize the thousands of variants, so the clinicians only need to look at a handful of variants to potentially identify the culprit, reducing the analysis time. I am pleased to announce that I have joined Fabric Genomics to help bring this platform to hospitals, diagnostic labs, and any organizations that need to interpret clinical data for patients. I believe this platform is what is needed to help make genomics testing a part of the standard of care, especially for newborn screening and other hereditary screenings such as cancer, hearing loss, Parkinson and cardiovascular diseases.

Join me in this mission to make genomic testing less daunting and more accessible for patients who need them with the hope that what this little boy has gone through could be averted. If you know of any diagnostic labs providing NGS testing, please let them know about Fabric Genomics and our platform. If you are working in the said diagnostic lab, please reach out. The user-friendly interface makes the task of interpreting genomic data and generating physician-ready lab reports much easier. Perhaps, as more hospitals recognize the utility of next-generation sequencing and the task of interpreting the data is simplified, we’ll have fewer of these stories to tell and more successful preventive stories to talk about.

If you are interested in learning more about Riboflavin Transporter Deficiency disease, please visit curertd.org .