Use of Newborn Screening ACTion (ACT) Sheets to Increase Referral of Patients with Hemoglobinopathy Trait for Genetic Counseling by Primary Care Providers
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Chance, Jillian A
Background: Mandated newborn screening in the United States identifies infants with hemoglobin disorders and finds cases of heterozygous carriers of hemoglobin traits as a by-product of the screening. Problem: The lack of knowledge among hemoglobinopathy trait carriers provides concern. Most carriers do not know their status, and carrier couples are frequently unaware that they have a 25% chance with each pregnancy of having an infant with a hemoglobin disorder, such as sickle cell disease. Sickle cell trait (SCT) has the for potential rare health risks that should be shared with caregivers. Parental counseling is beneficial for the genetic parents and the infant due to the recessive inheritance pattern and is more effective when done by genetic counseling professionals. Primary care providers do not utilize genetic counseling services widely for infants identified with sickle cell trait identified via newborn screening. Purpose: This project aims to increase primary care provider awareness of genetic counseling services available for hemoglobinopathy traits and increase their use of genetic counselors to counsel and offer to test to parents of infants identified as carriers of hemoglobinopathy traits by the Nebraska Newborn Screening program. Determine if education increases the rate of referrals for genetic counseling. Methods: The primary outreach method to primary care providers (PCPs) was the "ACTion sheet” which provides direction and education to PCPs following a presumptive positive newborn screen. During a two-month period, the Nebraska Newborn Screening Program sent a modified ACTion sheet to PCPs which encouraged PCPs to refer these patients to an infant hemoglobinopathy clinic that includes genetic counseling. A 2 (provider specialty) x 2 (modified ACT sheet) generalized linear model with a binomial distribution and a logit link function was used to determine if the modified ACT sheet increased the rate of referral compared to prior to the modification. Main effects and interactions were considered significant if p < .05. All odds ratios are presented as 1:0. Results: Overall, half as many patients were referred to genetic counseling as were not referred (ORestimate = .50303), a ratio that was significantly different from 1, or an even distribution (z = -3.03, p = .002). There was a significant main effect related to the modified ACT sheet (χ2 = 6.60, p = .010). For those that did not receive the modified ACT sheet a referral to genetic counseling occurred only once for every five that were not referred (ORestimate = .204), however, for those providers who received the modified ACT sheet, the rate of referral to genetic counseling was four referrals for every five non-referrals (ORestimate = .828). The impact of messaging was dependent on provider specialty (χ2 = 4.00, p = .054). The new messaging improved the referral rate to genetic counseling for Family Medicine (FM) (ORestimate = 1.13; z = -2.19, p = .029). However, it did not significantly affect referrals among Pediatric providers with a -0.496 odds ratio compared to -0.78 (z = -0.570, p = .569) without messaging. Conclusion: Written messaging to PCPs encouraging referrals of infants identified with SCT for genetic counseling increases the likelihood of referral. The effect of messaging was stronger amongst FM providers than amongst Pediatric providers.
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