Yu Xuan Jin

The emerging field of dermatogenomics, which examines visible dermatologic phenotypes alongside their polygenic factors, offers insights for early disease recognition and initiation of preventative measures. This review explores key dermatologic manifestations serving as clinical markers of systemic diseases, emphasizing cardiovascular, autoimmune, neuropsychiatric, metabolic/endocrine, and cancer-related conditions. Importantly, the pathogenesis of certain skin conditions including psoriasis, atopic dermatitis, vitiligo, and hidradenitis suppurativa is linked to systemic disease through shared genetic and epigenetic mechanisms. The diagnostic markers for these integumentary diseases are discussed alongside their shared mechanisms to systemic diseases, highlighting the clinical manifestation typically seen in primary care settings. This narrative review integrates dermatology with genomics, primary care, preventative care, public health, and internal medicine perspectives, underscoring the importance of an interdisciplinary and collaborative approach to patient care. Lastly, this review advocates for standardized dermatogenomic screening thresholds, inclusivity and expansion of genomic datasets, and the leverage of artificial intelligence and multi-omic technologies in preventative healthcare.

Diabetic retinopathy (DR), a complication of type 2 diabetes mellitus (T2DM), is typically asymptomatic in its early stages. Diagnosis typically relies on routine fundoscopy for the clinical detection of microvascular abnormalities. However, permanent retinal damage may occur well before clinical signs are appreciable. In the early stages of DR, the retina undergoes distinct epigenetic changes, including DNA methylation and histone modifications. Recent evidence supports unique epigenetic ‘signatures’ in patients with DR compared to non-diabetic controls. These DNA ‘signature’ sequences may be specific to the retina and may circulate in peripheral blood in the form of cell-free DNA (cfDNA). In this review, we explore the literature and clinical application of cfDNA sampling as an early, non-invasive, accessible assessment tool for early DR detection. First, we summarize the known epigenetic signatures of DR. Next, we review current sequencing technologies used for cfDNA detection, such as magnetic bead-based enrichment, next-generation sequencing, and bisulfite sequencing. Finally, we outline the current research limitations and emerging areas of study which aim to improve the clinical utility of cfDNA for DR evaluation.