Expanding the primary care workforce by integrating genetic counselors in multidisciplinary care teams.

Collectively, rare diseases are common, affecting approximately 8% of the population in Canada and the USA. Therefore, the majority of primary care (PC) clinicians will care for patients who are affected or at risk for a genetic disease. Considering the increasing ways in which genetics is being implemented into all areas of healthcare, one way to address these needs and expand the capacity of the PC workforce is through the integration of genetic counselors (GCs) into PC multidisciplinary teams.

Case report: Early use of whole exome sequencing unveils HNRNPU-related neurodevelopmental disorder and answers additional clinical questions through reanalysis.

This case report chronicles the diagnostic odyssey and resolution of a 27-year-old female with a complex neurodevelopmental disorder (NDD) using Whole Exome Sequencing (WES). The patient presented to a precision medicine clinic with multiple diagnoses including intellectual disability, autism spectrum disorder (ASD), obsessive-compulsive disorder (OCD), tics, seizures, and pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS). Although this patient previously had chromosomal microarray and several single-gene tests, the underlying cause of this patient's symptoms remained elusive.

Spinning convincing stories for both true and false association signals.

When interpreting genome-wide association peaks, it is common to annotate each peak by searching for genes with plausible relationships to the trait. However, "all that glitters is not gold"-one might interpret apparent patterns in the data as plausible even when the peak is a false positive. Accordingly, we sought to see how human annotators interpreted association results containing a mixture of peaks from both the original trait and a genetically uncorrelated "synthetic" trait.