Genetic skin disorders: The value of a multidisciplinary clinic

Abstract

Genodermatoses are inherited disorders with skin manifestations and can present with multisystem involvement, resulting in challenges in diagnosis and treatment. To address this, the expertise of dermatology and clinical genetics through a multidisciplinary clinic (Genodermatoses Clinic) were combined. A retrospective cohort study of 45 children seen between March 2018 and February 2019 in the Genodermatoses Clinic at The Children's Hospital of Philadelphia was performed. Patient demographics, referral information, genetic testing modality, diagnoses, and patient satisfaction scores were evaluated to assess the clinic's impact. The majority of patients (42.2%) were referred from Dermatology and 86.7% were referred for diagnosis. Two‐thirds of the patients were recommended genetic testing, and subsequently 73.3% completed testing. Nearly three‐quarters, 26 out of 36 patients (72.2%), of our undiagnosed patients received a clinical and/or molecular diagnosis, which is imperative in managing their care. Twenty‐two individuals pursued genetic testing. In eight individuals (36%), molecular testing was diagnostic. However, in two individuals the molecular diagnosis did not completely explain the phenotype. However, there are still obstacles to genetic testing, such as cost of testing and insurance barriers. Almost all (91.4%) rated the Genodermatoses Clinic as “Very Good,” the top Press Ganey score. High patient satisfaction scores suggest a positive impact of the Genodermatoses clinic, emphasizing the importance to increase support for the clinical and administrative time needed for patients with genodermatoses.

Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders

“…The interface between genetics and dermatology has updated the classification systems that integrate clinical and molecular data. Therefore, as noted earlier, multidisciplinary clinics devoted to genodermatoses can be a good solution [ 17 ]. The expertise of dermatology, medical genetics, surgery and obstetrics were combined to derive genetic counseling, prenatal diagnosis and disease treatment.…”

Future Frontiers: Exploration of practices, challenges, and educational needs of genetic counselors in emerging subspecialties

“…Eligible participants were separated into two cohorts: (1) Experienced cohort (EGCs), which consisted of GCs with experience working with patients with clinical indications from one of four emerging specialties: immunology, dermatology, endocrinology, and pulmonology (hereafter referred to as IDEP) and (2) control cohort (CGCs), which consisted of GCs with no experience with patients in IDEP. These four specialties were selected based on a PubMed review of current literature indicating increased utilization of genomic testing within them as well as a rise in referrals to genetic/genomic testing from these specialties (De Sousa et al., 2018; Hawley et al., 2020; Heimall, 2019; Parker et al., 2021). These fields were also selected based on the lack of educational resources dedicated to them currently available to GCs.…”

Gene Expression Profiling for Melanoma Prognosis: Going Beyond What We See With Our Eyes

“…1 The rarity of most of these diseases and variability in phenotypic manifestations presents considerable diagnostic challenges, typically the province of a select group of clinical pediatric dermatologists whose abilities have been developed by experience. 2 However, the addition of genomic analysis has now made reliable identification more accessible to a wider group of clinicians. 3 The Human Genome Project was arguably the most successful health policy endeavor in human history, promoting the development of massive automated, information theory-driven applications to analyze DNA sequences.…”