Health-related social needs and referrals for genetic evaluation among young children

Hadley Stevens Smith1,2, Kristin N Ray3, Lina Ghaloul Gonzalez4,5

  • 1Precision Medicine Translational Research (PROMoTeR) Center, Department of Population Medicine, Harvard Medical School and Harvard Pilgrim Health Care Institute, Boston, MA.

Insights

Children with health-related social needs (HRSNs) are more likely to receive genetic evaluation referrals. Financial stress and Medicaid insurance also increased referral likelihood, highlighting the need to understand HRSNs in genetic care pathways.

Area of Science:

  • Pediatric Health
  • Genetics
  • Social Determinants of Health

Background:

  • Health-related social needs (HRSNs) are increasingly recognized as significant factors influencing healthcare access and outcomes.
  • The specific mechanisms linking pediatric HRSNs to genetic service utilization remain underexplored.
  • Understanding these links is crucial for equitable genetic diagnosis and care.

Purpose of the Study:

  • To investigate the association between pediatric patients' HRSNs and their likelihood of receiving a referral for genetic evaluation.
  • To identify specific HRSNs and patient characteristics that predict genetic referral in young children.
  • To inform strategies for improving access to genetic services for vulnerable populations.

Main Methods:

  • Analysis of HRSN survey data from 42,390 children under 3 years old across 47 primary care sites.
  • Utilized adjusted hazard ratios (aHRs) to assess the relationship between various HRSNs and genetic referral.
  • Controlled for child characteristics, insurance type, and clinic setting in the statistical models.

Main Results:

  • Children screening positive for any HRSN had a 29% higher likelihood of genetic referral (aHR=1.29, P=.009).
  • Medicaid insurance (aHR=2.32) and academic primary care settings (aHR=2.52) were strongly associated with increased referrals.
  • Parent-reported financial stress independently predicted a higher referral rate (aHR=1.38, P=.004).

Conclusions:

  • Pediatric patients with HRSNs are more likely to be referred for genetic evaluation, a critical step in the diagnostic process.
  • Factors such as financial stress, Medicaid insurance, and clinic type influence genetic referral patterns.
  • Further research is needed to elucidate the complex interplay between HRSNs and genetic service access to ensure equitable care.

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