Genetics in medicine : official journal of the American College of Medical Genetics · 2019
CDKN2A testing and genetic counseling promote reductions in objectively measured sun exposure one year later.
СтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Stump Tammy K, Aspinwall Lisa G, Drummond Danielle M, Taber Jennifer M, Kohlmann Wendy, Champine Marjan, Cassidy Pamela B, Petrie Tracy, Liley Ben, Leachman Sancy A
Аннотация
PURPOSE: This study investigated whether genetic counseling and test reporting for the highly penetrant CDKN2A melanoma predisposition gene promoted decreases in sun exposure.
METHODS: A prospective, nonequivalent control group design compared unaffected participants (N = 128, Mage = 35.24, 52% men) from (1) families known to carry a CDKN2A pathogenic variant, who received counseling about management recommendations and a positive or negative genetic test result and (2) no-test control families known not to carry a CDKN2A pathogenic variant, who received equivalent counseling based on their comparable family history. Changes in daily ultraviolet radiation (UVR) exposure (J/m2), skin pigmentation (melanin index), and sunburns between baseline and one year following counseling were compared among carriers (n = 32), noncarriers (n = 46), and no-test control participants (n = 50).
RESULTS: Both carriers and no-test control participants exhibited a decrease one year later in daily UVR dose (B = -0.52, -0.33, p < 0.01). Only carriers exhibited a significant decrease in skin pigmentation at the wrist one year later (B = -0.11, p < 0.001), and both carriers and no-test control participants reported fewer sunburns than noncarriers (p < 0.05). Facial pigmentation did not change for any group. Noncarriers did not change on any measure of UVR exposure.
CONCLUSIONS: These findings support the clinical utility of disclosing CDKN2A test results and providing risk management education to high-risk individuals.
METHODS: A prospective, nonequivalent control group design compared unaffected participants (N = 128, Mage = 35.24, 52% men) from (1) families known to carry a CDKN2A pathogenic variant, who received counseling about management recommendations and a positive or negative genetic test result and (2) no-test control families known not to carry a CDKN2A pathogenic variant, who received equivalent counseling based on their comparable family history. Changes in daily ultraviolet radiation (UVR) exposure (J/m2), skin pigmentation (melanin index), and sunburns between baseline and one year following counseling were compared among carriers (n = 32), noncarriers (n = 46), and no-test control participants (n = 50).
RESULTS: Both carriers and no-test control participants exhibited a decrease one year later in daily UVR dose (B = -0.52, -0.33, p < 0.01). Only carriers exhibited a significant decrease in skin pigmentation at the wrist one year later (B = -0.11, p < 0.001), and both carriers and no-test control participants reported fewer sunburns than noncarriers (p < 0.05). Facial pigmentation did not change for any group. Noncarriers did not change on any measure of UVR exposure.
CONCLUSIONS: These findings support the clinical utility of disclosing CDKN2A test results and providing risk management education to high-risk individuals.