Diagnosing genetic skin disease

Genetic skin disorders present diagnostic and management challenges by way of their rarity and heterogeneity, often highly visible and life altering nature, and the potential for multisystem involvement. Clinicians are required to devise comprehensive management plans and distil complex concepts into readily understood language. Coupled with the competing demands of busy general clinics, the difficulties facing clinicians in adequately assessing and co-ordinating complex multidisciplinary care may be considerably intensified. 

For this reason, genetic dermatology may seem to be an esoteric realm inhabited by a minority of clinicians concentrated in specialised services. However, technological advances in DNA sequencing achieved over the last two decades underpin NHS England’s ambitious plan to transition the 100,000 Genomes project - completed in 2018 – to a flagship National Genomic Medicine Service that is positioned at the global forefront of genetic medicine in its endeavour to bring whole genome sequencing within reach of routine clinical practice. 

An appreciation of the rapidly evolving landscape is thus important not just in isolated cases of clinical care for affected individuals and their families, but for all clinicians working in the wider healthcare system, across primary, secondary and tertiary settings. 

This article seeks to provide the reader with an overview of the current landscape and a perspective on future developments. It covers the technological revolution in genetic sequencing, with new strategies offering the ability to screen for multiple sequence variations, and why these advances matter to current clinical practice.

The article also highlights the publication of a National Genomic Test Directory, which details the tests available via central commissioning, together with accompanying Rare and Inherited Disease-Eligibility criteria.