How Alamya Health used advanced genomics to uncover a new genetic disorder and give one family long-awaited answers.
A 40-Year Search for Answers
Jenna and her parents spent 40 years searching for the cause of her birth defects. Their search continued when her son was born with similar anomalies. Not knowing the cause of their problems isolated Jenna and her family from a community of others with similar issues, worried family members about the potential risk for their future children, created anxiety about future unanticipated medical complications, and left unknown whether there might be helpful, if not lifesaving, medical interventions.
Uncovering the Genetic Cause
Extensive previous genetic testing identified a genetic change in a gene not as yet associated with human disease. The team contacted Alamya Health for help to determine if this change was in fact the basis of the congenital anomalies or if there might be a different genetic alteration leading to these problems. Alamya Health implemented two cutting-edge tests (whole genome sequencing and transcriptome analysis), and using the team’s scientific and clinical expertise and sophisticated bioinformatic analytics, was able to confirm the genetic change as the cause of a novel genetic disorder. Alamya Health also contacted international clinicians and researchers to gather individuals with similar health issues who were found to have other alterations in the same gene. This effort served to accelerate research and confirm this novel association. The local genetics team and the family were very interested in contributing to the research efforts and are awaiting research findings to learn more.
From Uncertainty to Clarity
The application of whole genome sequencing across multiple generations and involving other families led to the identification of a new genetic disorder that was not achievable by conventional testing. Having a confirmed diagnosis answered a multitude of questions for the family and their healthcare providers.
