Exploring caregiver experiences of communicating with children about differences of sex development (DSD).

Objective: Explore the caregiver experience of communicating about differences of sex development (DSD) with their children. Evidence-based guidance regarding how, when, and what information is shared by caregivers is lacking and is needed to inform optimal information sharing strategies for this population.

Methods: Qualitative semi-structured interviews were conducted with 15 caregivers of children with DSD, recruited from 3 multidisciplinary DSD clinics.

Biallelic variants in cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathy.

encodes for the Popeye domain-containing protein 2 which has an important role in cardiac pacemaking and conduction, due in part to its cAMP-dependent binding and regulation of TREK-1 potassium channels. Loss of in mice results in sinus pauses and bradycardia and morpholino knockdown of zebrafish results in atrioventricular (AV) block. We identified bi-allelic variants in in 4 families that presented with a phenotypic spectrum consisting of sinus node dysfunction, AV conduction defects and hypertrophic cardiomyopathy.

Time tracking and comparison of genetic counseling tasks in inpatient and outpatient settings.

Genetic counselors (GCs) practice in critical care settings. Some GCs have full-time inpatient roles, while most GCs who see inpatients do so as needed or on a rotating schedule in addition to seeing patients in an outpatient setting. Few studies have tracked and compared the amount of time it takes GCs to perform tasks in the inpatient and outpatient settings.

Characterizing the research mentorship experience of genetic counseling students.

The Accreditation Council for Genetic Counseling's Practice-Based Competencies include research-related skills, which are taught in master's level genetic counseling programs through didactic coursework and completion of mentored research experiences. It is known that research mentors can impact student work environments, create positive perceptions of the research process, and increase students' likelihood of future involvement in research. However, few studies have characterized the experiences of GC students in receiving research mentorship.

Provision and availability of genomic medicine services in Level IV neonatal intensive care units.

Purpose: To describe variation in genomic medicine services across level IV neonatal intensive care units (NICUs) in the United States and Canada.

Methods: We developed and distributed a novel survey to the 43 level IV NICUs belonging to the Children's Hospitals Neonatal Consortium, requesting a single response per site from a clinician with knowledge of the provision of genomic medicine services.

Results: Overall response rate was 74% (32/43).