Media Coverage

DERMASCOPE | Genomic Testing: The Future of Skin Care Detection

April 20, 2021
Media Coverage

Written by Julie Karen, MD | DERMASCOPE

Skin cancer is the most commonly diagnosed cancer in the United States, affecting more people than all other cancers combined. More than five million nonmelanoma skin cancers are diagnosed annually in this country. Diagnosis and treatment rates have risen steadily and education on the importance of preventative care has increased, which is critical when considering that regular daily use of a broad-spectrum sunscreen reduces the risk of developing squamous cell carcinoma (the second most common form of skin cancer) by 40%.

Melanoma is another highly prevalent form of skin cancer, as the fifth most common cancer among men and the sixth most common cancer among women. An estimated 100,350 cases of cutaneous melanoma were expected to be diagnosed in the United States in 2020 and projected to cause approximately 6,850 deaths, many of which could have been prevented through early detection.


Diagnosing melanoma at an early stage poses a challenge as 70% to 80% of melanomas arise on seemingly normal skin, rather than within pre-existing moles. National rates of new melanoma cases have been rising steadily by 1.5% annually since 2008 and at an overall rate of 22.7%. If diagnosed at its earliest stage, the five-year survival rate is 99%. When a diagnosis is delayed, melanoma can spread internally in as little as three to six months, at which point the five-year survival rate lowers to 80% or worse. This creates a narrow window of time in which dermatologists have the opportunity to accurately diagnose and effectively treat melanoma once a lesion appears suspicious.


Due to the importance of early detection and the severity of melanoma, various new tools and technologies have been developed to enhance its diagnosis, prognosis, and treatment. These new methods are important for clinicians to consider as they evaluate patients for skin concerns.

Recent advancements in 3D total body photography provide dermatologists with an effective tool for screening patients with a family history of melanoma.

This technology creates a 3D model of the patient and links it to dermoscopic images of individual lesions, which is also useful for patients with multiple atypical moles. Patients and dermatologists can easily visualize the entire skin surface and address specific concerning moles, easing patients’ anxiety, and helping practitioners create a care plan based on the overall skin condition.

The introduction of genetic testing has further transformed how practitioners detect, diagnose, forecast, and treat skin cancer, especially melanoma. Early and accurate skin cancer detection provides the highest chances for successful patient outcomes, which is advanced even further by noninvasive genetic testing that offers high rates of accuracy without unnecessary patient risk. Many dermatologists are turning to smart sticker technology when patients express concern about a changing or abnormal mole. If the mole is suspect of cutaneous melanoma, dermatologists can administer a sticker that painlessly removes the top layers of skin from the mole. The sample is then submitted for analysis for genomic expression (RNA and DNA) correlative with melanoma. If gene changes are found, dermatologists can conclude the lesion is likely malignant and perform a standard biopsy to investigate further. Testing for skin cancer with genomics noninvasively increases diagnostic precision for a process that is often subjective.

This method is also effective for skin examinations by way of telehealth, which can be traditionally difficult due to technical limitations that prohibit a clear view of the atypical lesion in question. Smart sticker kits can be administered by patients in their homes under the supervision of their dermatologist and mailed to the laboratory for testing, with the results guiding decisions surrounding the need for future in-office procedures.


After diagnosis, genomic advancements have helped forecast the likelihood of skin cancer returning or spreading at a more precise level than invasive sentinel lymph node (SLN) biopsies. While 88% of patients who undergo SLN biopsies are categorized as low risk or stage I or II, 66% of patients whose melanoma metastasizes are classified as stage I or II following their initial biopsy. A genetic assay that analyzes 31 genes in patients’ skin cancer tumor tissue identifies the risk of recurrence or metastasis for stage I, II and III melanomas. Deeper insights inform future monitoring and treatment, helping dermatologists establish the appropriate personal action plan for each patient.

Beyond diagnosis and prognosis, genomic research has established a variety of genes linked to melanoma that can be targeted with specific treatment. The BRAF gene, present in about half of all melanomas, helps cancerous cells grow and is treated with drugs that shrink the tumors in advanced melanomas. Additionally, acral melanomas often experience changes in the C-KIT gene, leading researchers to develop treatments that target the melanoma cells in these difficult-to-treat locations. Decreasing the sizes of the tumors themselves aids dermatologists with surgical treatment or chemotherapy when the melanoma has spread.

Genomic testing has overwhelmingly helped researchers and practitioners identify, understand, and treat the most pervasive skin cancers. While other advancements in visual diagnosis have assisted with monitoring patients who may be at risk of developing melanoma or charting multiple atypical lesions, it is overall much more effective and beneficial to the patient to utilize genetic testing methods. Technology such as the smart sticker allows for highly accurate diagnoses without posing physical or monetary risks to the patient or practitioner. As skin cancer cases continue to rise, early, accurate diagnosis and treatment will significantly reduce unnecessary deaths from a potentially curable disease.

Julie Karen, MD, is a board-certified dermatologist specializing in skin cancer, laser surgery, antiaging, and the treatment of leg veins. She received her medical degree from Cornell University, completed her residency training at NYU Medical Center, and her fellowship training at NYU and Memorial Sloan Kettering. Karen is a Castle Connolly Top Doctor, and in 2020 she was again named a New York Times “Super Doctor,” and chosen as one of New York Magazine’s “Best Doctors.” Karen has published numerous textbook chapters and dermatology articles. 

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