Highlights from the Plenary Session
New technology for skin disease
The explosion in the understanding of the genetic basis and molecular alterations that lead to the clinical manifestations of skin disease is changing the diagnosis and treatment of these diseases, shared Amy S. Paller, MD, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA, in her Clarence S. Livingood, MD Memorial Award Lectureship at AAD 2016.
Cost-effective new technology is rapidly leading to these discoveries, thereby leading to identification of new treatment targets, and ultimately to novel interventions. Among these technologies is targeted deep sequencing, also called high throughput sequencing, which has had a dramatic affect on the capacity to diagnose a wide variety of genetic disorders, such as in ichthyosis, where it has been used to screen for known forms and identify new forms.
Targeted deep sequencing also plays an important role in mosaic disorders, opening the capacity to understand the underlying basis of the mosaic phenotype by comparing lesional skin to normal skin, blood, or saliva. In the setting of cutaneous T-cell lymphoma, this technology is more sensitive than other available technologies for detection in blood.
Pharmacologic, cellular, and genetic-based treatments are being developed to address these genetic discoveries. Although most are at the stage of investigation in the laboratory or very early human trials, they hold the promise of blocking activated pathways.
Psoriasis and atopic dermatitis are two areas where understanding the biology of the disease through this technology has led to new pharmacologic treatments directed at specific pathways, including inhibition of tumor necrosis factor (TNF), interleukin (IL)-17, 17A, and IL-23 for psoriasis, and IL-4R for atopic dermatitis. Targeted treatments for alopecia areata and other diseases with unmet need are on the horizon.
Other new technologies are being harnessed to understand the biology of dermatology-related diseases. High-frequency analyses of mRNA and protein, lipidomics, metabolomics, among others, are looking at global patterns to determine their effects on disease. Epigenetics is investigating the impact of environment and diet, among other factors, on the regulation of DNA expression.
All dermatologists everywhere can contribute to the bedside-to-bench-to-bedside transfer of insights and knowledge to improve patient care. Dr. Paller urged dermatologists to complement the patient examination with big data from skin or blood samples and noninvasive tests, to make more personalized decisions for diagnosis and treatment. Further, to share observations with other clinicians and scientists to take the bedside (patient samples) to the bench (lab investigations), to more quickly return to the bedside more targeted treatments with the greatest efficacy and lowest risk for patients.
In a plenary lecture, the case was made that it is possible to end the human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/AIDS) epidemic. Dermatologists were at the forefront of treating patients when this epidemic first appeared, and continue to play an important role, said Anthony S. Fauci, MD, Director, National Institute of Allergy and Infectious Diseases, Bethesda, Maryland, USA.
Effective antiretroviral therapies were an important first step that has led to durable treatment of patients with HIV/AIDS and has prolonged lives, to ages nearly similar to their peer without HIV/AIDS. Research has now demonstrated that pre-exposure prophylaxis in persons who are HIV-negative but at high risk reduced the rates of HIV infection, leading to the new concept of treatment as prevention. Post-exposure prophylaxis and prevention of mother-to-child transmission are also important prevention measures.
The Joint United Nations Programme on HIV/AIDS has established the 90-90-90 treatment target to be reached by the year 2020: 90% of patients with HIV diagnosed, 90% of patients with HIV treated with sustained antiretroviral treatment, and 90% of all patients being treated achieving viral suppression. This target requires addressing the barriers contributing to the implementation gap that limits diagnosis and treatment. Some 13% of the 1.2 million Americans living with HIV are unware because of the lack of testing, and 69% of those diagnosed are not receiving treatment. Notably, 1 in 3 primary care physicians have not heard of pre-exposure prophylaxis.
Worldwide, 36.9 million people are HIV-positive, but about 47% (13.4 million) are not diagnosed, 41% are not treated, and 32% are not achieving viral suppression.
Vaccine development is also underway, and a trial is starting in spring 2016 in Africa.