Genetic Testing in Dermatology: A Survey Analyzing Obstacles to Appropriate Care

Shagalov, Devorah; Ferzli, Georgina; Wildman, Temima; Glick, Sharon A.

doi:10.1111/pde.12981

Cited by 9 publications

(9 citation statements)

References 22 publications

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“…Providers such as neurologists, psychiatrists, pulmonologists, dermatologists, and cardiologists were involved in ordering genetic testing, and the frequency and comfort level varied by setting. [115][116][117][118][119][120] In studies that assessed referral patterns, between 9% and 58% of nongenetics HCPs reported that they had never referred a patient to a clinical genetics service for consultation. 91,116,117,121 In these studies, neurologists and psychiatrists both had lower referral rates to genetics, but neurologists were more likely than psychiatrists to have ordered genetic testing.…”

Section: Case Loadsmentioning

confidence: 99%

The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review

Dragojlovic

Borle

Kopac

et al. 2020

Genetics in Medicine

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As genetics becomes increasingly integrated into all areas of health care and the use of complex genetic tests continues to grow, the clinical genetics workforce will likely face greatly increased demand for its services. To inform strategic planning by health-care systems to prepare to meet this future demand, we performed a scoping review of the genetics workforce in high-income countries, summarizing all available evidence on its composition and capacity published between 2010 and 2019. Five databases (MEDLINE, Embase, PAIS, CINAHL, and Web of Science) and gray literature sources were searched, resulting in 162 unique studies being included in the review. The evidence presented includes the composition and size of the workforce, the scope of practice for genetics and nongenetics specialists, the time required to perform genetics-related tasks, case loads of genetics providers, and opportunities to increase efficiency and capacity. Our results indicate that there is currently a shortage of genetics providers and that there is a lack of consensus about the appropriate boundaries between the scopes of practice for genetics and nongenetics providers. Moreover, the results point to strategies that may be used to increase productivity and efficiency, including alternative service delivery models, streamlining processes, and the automation of tasks.

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Section: Case Loadsmentioning

confidence: 99%

The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review

Dragojlovic

Borle

Kopac

et al. 2020

Genetics in Medicine

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“…Pediatric patients with genetic skin disorders may first present to a dermatologist due to physical symptoms. Shagalov et al illustrated that nearly all practicing pediatric dermatologists care for patients requiring genetic analysis, but that due to poor rates of insurance coverage, the number of patients completing testing is quite low (Shagalov, Ferzli, Wildman, & Glick, 2017). Additionally, practicing dermatologists in the community may not regularly see patients with these rare syndromes.…”

Section: Introductionmentioning

confidence: 99%

Genetic skin disorders: The value of a multidisciplinary clinic

Parker

Rangu

Grand

et al. 2021

American J of Med Genetics Pt A

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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.

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“…In this issue, Shagalov et al report the results of a survey that examined obstacles to obtaining genetic testing for patients with genetic skin diseases. Respondents were pediatric dermatologists in the United States, the majority of whom were working in academic centers.…”

mentioning

confidence: 99%

“…Genetic testing usually (but not always) provides parents with a definitive pattern of inheritance and the likelihood of transmission of the disease (e.g., autosomal dominant or recessive, sex linked, mitochondrial or mosaic inheritance) and allows for effective genetic counseling. Shagalov et al reported that 25% of participants in their survey cited prenatal diagnosis as a reason to obtain genetic testing. Historically, prenatal diagnoses for suspected genodermatoses were made using chorionic villous sampling or fetal skin biopsy .…”

mentioning

confidence: 99%

“…The biggest factor limiting the use of genetic testing in many countries is cost; with highly variable access for patients depending on where they live. Shagalov et al discuss the variability in insurance coverage across the United States for genetic testing. This is not a problem unique to the United States; access is a concern of insurers and other third‐party payers in most health systems worldwide.…”

mentioning

confidence: 99%

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Access to Genetic Diagnostics for Genodermatoses: Who Should Get Tested? Why? Who Pays?

Storan

Irvine

2016

Pediatric Dermatology

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Genetic Testing in Dermatology: A Survey Analyzing Obstacles to Appropriate Care

Abstract: The role of genetic testing in the practice of dermatology is expanding, yet obtaining coverage for genetic testing remains a challenge. We propose several solutions as to how this can be remedied.

Cited by 9 publications

References 22 publications

The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review

The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review

Genetic skin disorders: The value of a multidisciplinary clinic

Access to Genetic Diagnostics for Genodermatoses: Who Should Get Tested? Why? Who Pays?

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