The Data Insights team at Roche Sequencing Solutions attended the Curating the Clinical Genome meeting in Hinxton, UK this year. The conference was a great opportunity to hear from individuals actively involved in use of genetics in the clinic and leading initiatives to define and improve the state-of-the-art for the field.
In the previous series of posts, I’ve highlighted the clinical value gained from the first molecular diagnosis of a disease (part 1) and the increasing value as more cases come to light (part 2, part 3). But parents of rare disease sufferers have also found great emotional value in discovering their child, a rare disease sufferer, is not alone.
The recurring theme for many rare disease sufferers and their families in the past has been one of a diagnostic odyssey. It’s difficult to imagine the parents’ anguish upon discovering their baby’s potentially severe condition, and then add to that the continual testing, a multitude of referrals from one specialist to the next, mounting medical bills, and a string of changing diagnoses each with their requisite treatment. One can only have deep empathy and admiration for what the family and the affected child endure, and the sacrifices they make.
In the previous post, I shared the riveting case of Bertrand Might, as the first known sufferer from a disease due to mutations in the NGLY1 gene, and how his father’s blog helped a researcher at Baylor, Matthew Bainbridge, realize that NGLY1 mutations were giving rise to his patient’s condition as well [1,2].
With Bio-IT World Conference & Expo approaching, one of the traditions that attendees and sponsors look forward to is the award ceremony that recognizes outstanding technology innovators and research collaborations. Last year Bina beat out numerous contenders and was crowned winner of the Best of Show Award for the Genetic Analysis category. This year we have our eye on the prize for the Best Practices Award, and are honored to be amongst the 17 finalists that were recently selected. Winners will be announced during the Bio-IT plenary session on April 6 at 9:30 am.
First you have to get to N-of-one
In the New Yorker article, “One of a Kind: What do you do if your child has a condition that is new to science?”, Seth Mnookin chronicles the life of the Mights family whose first son, Bertrand, was born in 2007 with a condition that evaded diagnosis until he was tested with clinical exome sequencing in 2012. Bertrand suffered from a disorder that left him with limited mobility, seizures and an inability to speak, among many other symptoms. The article describes the family’s odyssey - diagnostic odyssey and beyond - as a sufferer of a rare disease. At initial diagnosis, Bertrand appeared to be the first known individual whose disease was due to a mutation in the NGLY1 gene that codes for a de-glycosylation enzyme, resulting in barely detectable levels of the protein.
At last week’s Molecular Medicine Tri-Conference, Birgit Funke, Director of Clinical Research and Development at the Laboratory for Molecular Medicine and Lab Director at Partners HealthCare, presented in the session “Can Exomes Replace Targeted Panels? Balancing Cost with Results and Regulatory Requirements”. Given her intriguing talk title, “Using Exome Sequencing as a Universal Assay to Streamline Assay Development and Laboratory Operations”, I sat down with the goal of hearing about how exomes may be at the point to replace disease-focused panels. Certainly, one can imagine how doing so could simplify the clinical lab workflow by converging from many tests to a single one.