Hadley Stevens Smith, Kristin N Ray, Lina Ghaloul Gonzalez, Janel Hanmer
Health-related social needs (HRSNs) may impact the receipt of genetic services, but the mechanisms are not well established. We aimed to evaluate the relationship between pediatric patients' HRSNs and referrals for genetic evaluation. We analyzed HRSN survey data collected during clinic visits across 47 primary care offices for children <3 years of age. Using hazard ratios adjusted (aHRs) for child characteristics, we evaluated the relative likelihood of referral for genetic evaluation based on categories of HRSN. The sample included 42,390 children, 470 of whom received a referral for genetic evaluation. Children who screened positive for any HRSN (n = 235/15,019) were more likely to be referred than children who did not screen positive (n = 235/27,371; aHR = 1.29, P = .009). Children were more likely to receive referrals if they were insured by Medicaid rather than commercial insurance (aHR = 2.32, P < .0001), and if they received care in academic primary care clinics rather than community ones (aHR = 2.52, P < .0001). Holding child characteristics and other HRSNs constant, parent-reported financial stress was associated with a higher likelihood of referral (aHR = 1.38, P = .004). Child race and ethnicity were not significant predictors of referral in adjusted analyses. Children in our sample with any HRSN were more likely to receive a referral for genetic evaluation, which is a key step toward genetic diagnosis. Our findings highlight the need to better understand the relationship between HRSNs and genetic referrals and services.