Secondary findings, UDN demographics, clinical diagnoses highlighted
Three HudsonAlpha scientists and a student intern presented posters at the 2018 ACMG meeting Thursday in Charlotte, NC.
Whitley Kelley
Whitley Kelley, a genetic counselor, analyzed the family impacts and reporting of secondary findings in the CSER (Clinical Sequencing Exploratory Research) project, which diagnoses children with neurological symptoms and developmental delay through whole genome sequencing.
Of families who received a primary finding, most shared that information with their primary care physician as well as family and friends. However, when it came to sharing information about secondary findings, families often did not report that information to medical providers.
Kevin Bowling, PhD
Kevin Bowling, PhD, senior scientist in faculty investigator Greg Cooper’s lab, also presented data on secondary findings identified through CSER. Of 789 parents analyzed, 71 were found to have secondary findings, 11 of which were on the ACMG 59 list.
Not all the findings were a surprise to the families; some parents were symptomatic.
The vast majority (85%) of parents requested to learn all secondary findings that were discovered in the process of identifying the primary variant(s) causing their child’s condition.
Camille Birch, PhD
Camille Birch, PhD, a clinical analyst and member of the software development and bioinformatics team led by faculty investigator Liz Worthey, presented a poster on a single patient. The patient, a male in his 50’s, was struggling with worsening neurological symptoms and had been diagnosed with primary lateral sclerosis.
He underwent whole genome sequencing, and through CODI, the HudsonAlpha-developed software for analysis, it was determined that the patient actually had spastic paraplegia. While there is no new treatment for the patient, the team was able to test and confirm that the patient’s son would not develop the same disease.
Alexander Moss, a computer engineering student at University of Alabama – Huntsville, presented a poster on the demographics of the Undiagnosed Disease Network (UDN). Moss looked at the hometowns of the participants whose samples were analyzed at HudsonAlpha, the whole genome sequencing core of the UDN. Moss identified a lower concentration of participants in the midwest than in other regions of the country.
