Exploration of support for Black, Indigenous, and people of color students in genetic counseling programs.

Students in higher education who identify as Black, Indigenous, and people of color (BIPOC) experience racism, discrimination, and microaggressions through tokenization, hypervisibility, invisibility, and marginalization. The experiences of BIPOC genetic counseling students with curriculum, clinical training, and sense of belonging also differ. Therefore, there is a large need for understanding how support is defined by BIPOC genetic counseling students, and then how to integrate specific aspects of training into a practical framework for programs to address racism and the resulting emotional implications. This study aimed to define current practices of support and identify gaps in genetic counseling programs as described by BIPOC students. BIPOC genetic counseling students (N = 40) were recruited through Listserv, social media, and Slack channels to complete an online survey eliciting demographic data, perspectives on support, and available support resources. The online survey consisted of 22 open- and closed-ended questions. Data were collected over a 5-week period. Open-ended responses were coded by thematic analysis and audited. The top three supports were as follows: (1) presence of other BIPOC students; (2) presence of BIPOC faculty; and (3) financial funding. Participants' individual definitions of support indicated that each student defined support in a unique way. Most participants defined understanding and empathy stemming from peers, supervisors, and faculty within the program setting as important aspects of overall support. The majority of participants felt somewhat or strongly supported in areas of training. The area with the least support was within rotation/fieldwork experiences. Programs should consider social- and program-level support combined with emotional support. Individualized support for every student is needed while avoiding assumptions about their identity and support needs. Training programs may consider a balance of efforts to prioritize recruiting more BIPOC faculty and students and providing the outlined support and funding resources for their students.

Diverse Molecular Mechanisms Contribute to Differential Expression of Human Duplicated Genes.

Emerging evidence links genes within human-specific segmental duplications (HSDs) to traits and diseases unique to our species. Strikingly, despite being nearly identical by sequence (>98.5%), paralogous HSD genes are differentially expressed across human cell and tissue types, though the underlying mechanisms have not been examined. We compared cross-tissue mRNA levels of 75 HSD genes from 30 families between humans and chimpanzees and found expression patterns consistent with relaxed selection on or neofunctionalization of derived paralogs. In general, ancestral paralogs exhibited greatest expression conservation with chimpanzee orthologs, though exceptions suggest certain derived paralogs may retain or supplant ancestral functions. Concordantly, analysis of long-read isoform sequencing data sets from diverse human tissues and cell lines found that about half of derived paralogs exhibited globally lower expression. To understand mechanisms underlying these differences, we leveraged data from human lymphoblastoid cell lines (LCLs) and found no relationship between paralogous expression divergence and post-transcriptional regulation, sequence divergence, or copy-number variation. Considering cis-regulation, we reanalyzed ENCODE data and recovered hundreds of previously unidentified candidate CREs in HSDs. We also generated large-insert ChIP-sequencing data for active chromatin features in an LCL to better distinguish paralogous regions. Some duplicated CREs were sufficient to drive differential reporter activity, suggesting they may contribute to divergent cis-regulation of paralogous genes. This work provides evidence that cis-regulatory divergence contributes to novel expression patterns of recent gene duplicates in humans.