Psychosocial Issues Associated with Genetic Testing in Cystic Fibrosis Newborn Screening

Abstract

Two studies examined the psychosocial issues related to cystic fibrosis (CF) newborn screening (NBS). Study 1: Most parents of 15 infants reported high levels of depressive symptoms documented by Epidemiological Studies Depression Scales (CES‐D) (Median = 16; Range = 1–42) during their wait for the sweat test appointment (Median = 7 days; Range = 3–25 days). Six‐month follow‐up Interviews showed that parents’ uncertainty and emotional distress was influenced by physicians’ approaches to informing them, parents’ prior knowledge about NBS and CF, and the infant’s health. Parents coped by requesting a sweat test as soon as possible, searching for information, assessing infant’s risk/health, and seeking support.Study 2: Parents of 34 infants with abnormal CF NBS identified preferences for genetic counseling at the time of the sweat test to include probability of a CF diagnosis, description of sweat test procedure, explanation about disease and genetics of CF presented in a straight forward manner by a CF expert. They also identified preferences for emotional support including a choice about the timing and amount of CF information, empathy for their distress, a sense of hope, personalized counseling, and comfort measures. Counseling that matched parents’ preferences decreased emotional distress while mismatched counseling increased distress among parents awaiting their infant’s sweat test results.