Chromosome (cytogenetic) analysis is widely used for the detection of chromosome instability. When followed by G-banding and molecular techniques such as fluorescence in situ hybridization (FISH), this assay has the powerful ability to analyze individual cells for aberrations that involve gains or losses of portions of the genome and rearrangements involving one or more chromosomes. In humans, chromosome abnormalities occur in approximately 1 per 160 live births 1,2 , 60-80% of all miscarriages 3,4

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Objective To conduct a scoping review on etiologic investigation of prelingual hearing loss among children <2 years of age in the era of universal newborn hearing screening (UNHS). Data Sources PubMed, Embase, PsycInfo, CINAHL, and Cochrane Library databases. Review Methods We searched for articles published from January 1, 1998, to February 19, 2020. We reviewed studies that (1) included children identified with either congenital or delayed-onset hearing loss before 2 years of age among cohorts who had undergone UNHS and (2) investigated ≥1 etiologies of hearing loss. We defined hearing loss as congenital when confirmed after UNHS failure and as delayed onset when diagnosed after ≥1 assessments with normal hearing. Results Among 2069 unique citations, 115 studies met criteria for full-text assessment, and 20 met our inclusion criteria. Six studies tested children diagnosed with hearing loss for genetic etiology, 9 for congenital cytomegalovirus (CMV) infection, and 5 for both. Among 1787 children with congenital hearing loss and etiologic investigation, 933 (52.2%) were tested for genetic mutations and 1021 (57.1%) for congenital CMV infection. The proportion of congenital hearing loss cases attributable to genetic etiology ranged between 7.7% and 83.3% and to congenital CMV infection between 0.0% and 32.0%. Conclusion Data are lacking on the identification and etiology of delayed-onset hearing loss in children <2 years of age in the UNHS era. The proportion of congenital hearing loss cases attributable to genetic etiologies and congenital CMV infection appears to vary widely.

Advances in sequencing technologies and increased understanding of the contribution of genetics to congenital sensorineural hearing loss have led to vastly improved outcomes for patients and their families. Next-generation sequencing and diagnostic panels have become increasingly reliable and less expensive for clinical use. Despite these developments, the diagnosis of genetic sensorineural hearing loss still presents challenges for healthcare providers. Inherited sensorineural hearing loss has high levels of genetic heterogeneity and variable expressivity. Additionally, syndromic hearing loss (hearing loss and additional clinical abnormalities) should be distinguished from non-syndromic (hearing loss is the only clinical symptom). Although the diagnosis of genetic sensorineural hearing loss can be challenging, the patient’s family history and ethnicity may provide critical information, as certain genetic mutations are more common in specific ethnic populations. The early identification of the cause of deafness can benefit patients and their families by estimating recurrence risks for future family planning and offering the proper interventions to improve their quality of life. Collaboration between pediatricians, audiologists, otolaryngologists, geneticists, and other specialists are essential in the diagnosis and management of patients with hearing disorders. An early diagnosis is vital for proper management and care, as some clinical manifestations of syndromic sensorineural hearing loss are not apparent at birth and have a delayed age of onset. We present a case of Usher syndrome (congenital deafness and childhood-onset blindness) illustrating the challenges encountered in the diagnosis and management of children presenting with congenital genetic sensorineural hearing loss, along with helpful resources for clinicians and families.

The Southeast Partnership for Improving Research and Training in Cancer Health Disparities (SPIRIT-CHD) unites Louisiana State University Health Sciences Center (LSUHSC) and Moffitt Cancer Center (MCC) to advance translational research on cancer health disparities and to establish a Cancer Research Education Program (CREP). The CREP addresses a national priority to develop an educational training pipeline for one-on-one mentoring of undergraduates and medical students by a diverse group of LSUHSC and MCC faculty with unique expertise to conduct cancer health disparities research and outreach in underserved communities. The CREP supports 8-week internships providing: (1) hands-on summer research experiences; (2) a curriculum focusing on biobanking, precision medicine, and cancer health disparities; and (3) community outreach experiences in underserved communities. The curriculum includes web-based training modules, immersion experiences (e.g., biobank tour), professional development workshops, and learning activities (e.g., book and journal clubs). Data from the students' pre/post summative (impact/outcome) evaluations determine the acceptability and impact of these research and educational activities, students' knowledge, career aspirations, goal attainment, and their satisfaction based on nationally normed scales. Baseline and post-training data will be analyzed in August, at training completion, to assess program impact. Long-term yearly follow-up data will focus on the impact of CREP on student career trajectories. These data will help modify the CREP for years 2-4 of the SPIRIT-CHD. Seventy-five percent of the student participants in the first cohort were female. Students self-identified as Black/African American non-Hispanic (62.5%), White Hispanic (25%), and Asian non-Hispanic (12.5%). Student projects included genomic, immunologic, and cellular wet-lab research (analyzing proliferation of renal cell carcinoma, RNA sequencing and bioinformatics of Luminal B breast carcinomas, expression differences of polyamine enzymes in prostate cancer) and clinical studies (detection, prevention, and treatment of anal cancer in HIV-positive populations). Dry-lab projects focused on the analysis of Behavioral Risk Factor Surveillance System to assess policy-related trends in colorectal cancer screenings, studying the effectiveness of barbers as lay health educators for skin cancer prevention, and smoking cessation among Hispanics. CREP students also participated in cancer education outreach events to explain their projects to the communities at an elevated risk for certain types of cancer. This program has applicability to undergraduate and medical students nationwide on best practices for efficacious training in cancer health disparities, precision medicine, and biobanking. Ultimately, these efforts will enhance the diversity of the cancer research workforce, while contributing to the reduction of cancer health disparities. Citation Format: Fern Tsien, Paula Gregory, Gwendolyn Quinn, Vani N. Simmons, Z'Kera Sims, Megan E. Sutter, Ayesha Umrigar, Arnold H. Zea, Cathy Meade, Clement K. Gwede. The Cancer Research Education Program (CREP): Training the next generation of cancer health disparities researchers through the Southeast Partnership for Improving Research and Training in Cancer Health Disparities (SPIRIT-CHD) [abstract]. In: Proceedings of the Eleventh AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2018 Nov 2-5; New Orleans, LA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2020;29(6 Suppl):Abstract nr A065.