Continuing education and professional development: Unifying opportunities for genetic counselors globally

Genetic counseling practice is expanding globally, affecting clinical care across specialties, quantitative and qualitative research areas, academic and industry laboratories, advocacy, policy, diversity, equity, and inclusion initiatives, and education. Genetic counselors (GCs) practice at the forefront of genomic medicine, interpreting genomic data and explaining their implications to individuals and families. In recognition of GCs role in genomic medicine, some have transitioned to using the term “genomic counselors.”1 Rapid advancements in genomic testing technology and scope require a highly specialized workforce. A recent survey of European Genetic Counseling Masters programs identified enhancing the genomics technology curriculum as challenging and necessary to maintain professional standards for individuals seen for genetic counseling.2 A good working knowledge of genomics was identified as necessary for GCs to perform their job well.3 In a 2016 National Society of GCs professional status survey of practicing GCs in the United States, only 28% of respondents felt their education in genomic technologies was adequate. Those who graduated more recently felt that their training was more complete than those who graduated in more distant years, and 55% of those responding reported that additional on-the-job training was required to meet the needs of the job

A systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis

Genome-wide association studies (GWAS) have identified more than 50,000 unique associations with common human traits. While this represents a substantial step forward, establishing the biology underlying these associations has proven extremely difficult. Even determining which cell types and which particular gene(s) are relevant continues to be a challenge. Here, we conduct a cell-specific pathway analysis of the latest GWAS in multiple sclerosis (MS), which had analyzed a total of 47,351 cases and 68,284 healthy controls and found more than 200 non-MHC genome-wide associations. Our analysis identifies pan immune cell as well as cell-specific susceptibility genes in T cells, B cells and monocytes. Finally, genotype-level data from 2,370 patients and 412 controls is used to compute intra-individual and cell-specific susceptibility pathways that offer a biological interpretation of the individual genetic risk to MS. This approach could be adopted in any other complex trait for which genome-wide data is available

Multiple sclerosis with early childhood onset: a case report

A 2 year old boy was admitted owing to a subacute episode of ataxic gait and hearing deficit. Computerized tomography (CT) was normal and cerebrospinal fluid (CSF) analysis revealed gamma globul.ns level of 15.4% (normal 7 to 14%). There was spontaneous remission after 7 months. At 5 years of age the boy incurred a second episode with predominantly right apendicular ataxia and tonic gaze deviation to the right side. CT showed a low-density lesion in the white matter adjacent to the right frontal horn. Visual and auditory evoked potentials were abnormal. CSF revealed a mild increase in gamma globulins level of 14.5% with an abnormal T lymphocyte subsets study. The combination of visual, cerebellar, brain stem and paraventricular lesions with clear remissions and exacerbations, supported by CT, CSF and evoked potentials findings suggests the diagnosis of multiple sclerosis even at this early age

Scale Dependence of Female Ungulate Reproductive Success in Relation to Nutritional Condition, Resource Selection and Multi-Predator Avoidance

Female ungulate reproductive success is dependent on the survival of their young, and affected by maternal resource selection, predator avoidance, and nutritional condition. However, potential hierarchical effects of these factors on reproductive success are largely unknown, especially in multi-predator landscapes. We expanded on previous research of neonatal white-tailed deer (Odocoileus virginianus) daily survival within home ranges to assess if resource use, integrated risk of 4 mammalian predators, maternal nutrition, winter severity, hiding cover, or interactions among these variables best explained landscape scale variation in daily or seasonal survival during the post-partum period. We hypothesized that reproductive success would be limited greater by predation risk at coarser spatiotemporal scales, but habitat use at finer scales. An additive model of daily non-ideal resource use and maternal nutrition explained the most (69%) variation in survival; though 65% of this variation was related to maternal nutrition. Strong support of maternal nutrition across spatiotemporal scales did not fully support our hypothesis, but suggested reproductive success was related to dam behaviors directed at increasing nutritional condition. These behaviors were especially important following severe winters, when dams produced smaller fawns with less probability of survival. To increase nutritional condition and decrease wolf (Canis lupus) predation risk, dams appeared to place fawns in isolated deciduous forest patches near roads. However, this resource selection represented non-ideal resources for fawns, which had greater predation risk that led to additive mortalities beyond those related to resources alone. Although the reproductive strategy of dams resulted in greater predation of fawns from alternative predators, it likely improved the life-long reproductive success of dams, as many were late-aged (>10 years old) and could have produced multiple litters of fawns. Our study emphasizes understanding the scale-dependent hierarchy of factors limiting reproductive success is essential to providing reliable knowledge for ungulate management