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As the genetic counseling workforce experiences an increase in genetic counselors (GCs) in non-direct patient care roles, it is essential that genetic counseling students are trained in these settings. The Accreditation Council for Genetic Counseling (ACGC) standards regarding laboratory exposure have evolved over time, but laboratory fieldwork experience continues to remain a suggestion for a diversified setting. As more trainees seek laboratory exposure and an increasing number of new graduates opt for laboratory positions, learning firsthand from GCs employed in this setting is a valuable experience that should be available to all trainees. Historically, laboratory educational offerings consisted of onsite rotations for students from local training programs focused on understanding diagnostic testing methodologies and shadowing GCs. Through the years, multiple laboratories have expanded their curriculums to expose students to variant interpretation and report writing, research, client services, marketing, and product development. Alongside the growth of laboratory rotation curriculum grew opportunities for remote rotations. Prior to the COVID-19 pandemic, GeneDx offered remote education options including both individualized rotations and a webinar series. These offerings expanded due to the pandemic coupled with increased demand and have positive implications for future trainees. The evolution of the rotation also included conscious efforts to incorporate diversity, equity, and inclusion into the curriculum, as well as to improved accessibility to laboratory rotations. Notably, there are inconsistencies in laboratory rotation curricula and requirements, and a standardized evaluation and definition of competencies are lacking. ACGC guidelines defining common core concepts required from laboratory rotations would help ensure students receive an equitable minimum skill set, regardless of training site. Stakeholders in GC education should collaborate to enhance the experiences of future trainees and provide the skills needed by a workforce shifting to remote work and increasing numbers of non-direct patient-facing laboratory roles. Drawing upon our years of experience, GeneDx aims to actively contribute to discussions around these questions. Alongside other laboratories and training programs, we hope to foster further innovation surrounding the training needs of our future GC colleagues. This educational innovation illustrates an approach to helping genetic counseling students achieve competencies related to lab-based roles., (© 2023 National Society of Genetic Counselors.)

Hereditary deafness and retinal dystrophy are each genetically heterogenous and clinically variable. Three small unrelated families segregating the combination of deafness and retinal dystrophy were studied by exome sequencing (ES). The proband of Family 1 was found to be compound heterozygous for NM_004525.3: LRP2: c.5005A > G, p.(Asn1669Asp) and c.149C > G, p.(Thr50Ser). In Family 2, two sisters were found to be compound heterozygous for LRP2 variants, p.(Tyr3933Cys) and an experimentally confirmed c.7715 + 3A > T consensus splice-altering variant. In Family 3, the proband is compound heterozygous for a consensus donor splice site variant LRP2: c.8452_8452 + 1del and p.(Cys3150Tyr). In mouse cochlea, Lrp2 is expressed abundantly in the stria vascularis marginal cells demonstrated by smFISH, single-cell and single-nucleus RNAseq, suggesting that a deficiency of LRP2 may compromise the endocochlear potential, which is required for hearing. LRP2 variants have been associated with Donnai-Barrow syndrome and other multisystem pleiotropic phenotypes different from the phenotypes of the four cases reported herein. Our data expand the phenotypic spectrum associated with pathogenic variants in LRP2 warranting their consideration in individuals with a combination of hereditary hearing loss and retinal dystrophy., (© 2023 John Wiley & Sons Ltd. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.)

Duchenne muscular dystrophy (DMD) is a progressive childhood onset neuromuscular disease with no known cure. There is extensive literature about the impact of a diagnosis on the psychosocial well-being of unaffected siblings, with a need for additional research to provide information about optimal ways to disclose this information to unaffected children. We sought to explore the parental experiences of disclosing a sibling's diagnosis of DMD to unaffected children who were age 8-17 years old either at the time of their sibling's diagnosis or presently. Parents were recruited through Maryland Muscular Dystrophy Association, Parent Project Muscular Dystrophy, and Cincinnati Children's Hospital Medical Center Neuromuscular Center. An interview guide, rooted in family communication, was created to incorporate themes and topics found in literature specific to DMD and disclosure to unaffected siblings. We qualitatively explored these experiences through semi-structured interviews and performed thematic analysis using a coding system to identify overarching themes and subthemes. Several main themes regarding challenges to the disclosure process emerged. We identified the following themes in procedural aspects of disclosure: lack of provider support, importance of the DMD community, and open and gradual timeline of disclosure. Under emotional experiences, we identified these themes: overwhelming nature, elements of surprise disclosure, and balancing parental and sibling needs. Most questions from unaffected siblings related to procedural elements of care such as treatments and equipment. Additional unanticipated themes emerged that may contribute to the knowledge of family culture surrounding DMD: the complex role of Facebook as a family resource, deferring carrier testing for siblings, and inclusion of DMD in school projects. While the process of disclosure is complicated by a variety of factors such as lack of provider support and overwhelming emotional burden, families highlight the importance of open communication in discussion with unaffected children., (© 2020 National Society of Genetic Counselors.)