Do polygenic risk scores have potential utility in determining risk for dermatologic disease?
Clinical Applications
Dr. Schwarzenberger is the former physician editor of DermWorld. She interviews the author of a recent study each month.
By Kathryn Schwarzenberger, MD, February 1, 2020
In this month’s Clinical Applications column, Physician Editor Kathryn Schwarzenberger, MD, talks with Maryam Asgari, MD, MPH, about her recent Journal of Investigative Dermatology article "Sex-stratified polygenic risk score identifies individuals at increased risk of basal cell carcinoma."
Dr. Schwarzenberger: You and your research colleagues recently published an article titled “Sex-stratified polygenic risk score identifies individuals of increased risk of basal cell carcinoma.” Can you briefly describe your study and the major findings?
Dr. Asgari: Our findings reveal that genetics substantially contribute to risk of basal cell carcinoma, and that the genetic risk is a stronger predictor in men than women.
Dr. Schwarzenberger: What exactly is a “polygenic risk score?”
Dr. Asgari: A polygenic risk score (PRS) provides a quantitative index of the genomic burden of risk variants in an individual, which relates to the likelihood that a person has a particular disorder. In essence, it is a score that provides genetic risk for a disease. It is calculated based on variations in single nucleotide polymorphisms across multiple genetic loci and their associated weights and is typically derived with data from genome-wide association studies.
Dr. Schwarzenberger: Are we using polygenic risk scores to stratify risk in any other dermatologic conditions? Are there others that might benefit from this type of research?
Dr. Asgari: Polygenic risk scores have potential utility in any dermatologic disease that has a strong and clearly identified genetic component. Previous studies have examined polygenic risk scores in nonmelanoma skin cancer and psoriasis (PLoS One. 2015;10(5): e0125369; Am J Transplant. 2019;19(3): 801-810).
Dr. Schwarzenberger: Where did you obtain the genetic information, and is this something patients might be learning in the future from home genetic tests?
Dr. Asgari: As stated in our methods, we used genetic information from published, validated studies, defined as two-stage genome-wide association studies that were replicated and reached genome-wide significance in meta-analysis.
Dr. Schwarzenberger: How might this information impact our clinical practices?
Dr. Asgari: PRS has the potential to aid clinicians in flagging individuals who are at greatest risk for a disease to enable targeted screening, guide implementation of preventative strategies targeting high-risk populations, and enable predictions of treatment response.
Maryam Asgari, MD, MPH, is an associate professor in dermatology at Massachusetts General Hospital and Population Medicine at Harvard Medical School. Dr. Asgari has research grants through her institution from Pfizer Inc. Her article appeared in JID (doi: 10.1016/j.jid.2019.09.020).
Disclaimer: The views and opinions expressed in this article do not necessarily reflect those of DW.
