Birth prevalence of disorders detectable through newborn screening by race/ethnicity

Genet Med. 2012 Nov;14(11):937-45. doi: 10.1038/gim.2012.76. Epub 2012 Jul 5.


Purpose: The purpose of this study was to describe the birth prevalence of genetic disorders among different racial/ethnic groups through population-based newborn screening data.

Methods: Between 7 July 2005 and 6 July 2010 newborns in California were screened for selected metabolic, endocrine, hemoglobin, and cystic fibrosis disorders using a blood sample collected via heel stick. The race and ethnicity of each newborn was self-reported by the mother at the time of specimen collection.

Results: Of 2,282,138 newborns screened, the overall disorder detection rate was 1 in 500 births. The disorder with the highest prevalence among all groups was primary congenital hypothyroidism (1 in 1,706 births). Birth prevalence for specific disorders varied widely among different racial/ethnic groups.

Conclusion: The California newborn screening data offer a unique opportunity to explore the birth prevalence of many genetic disorders across a wide spectrum of racial/ethnicity classifications. The data demonstrate that racial/ethnic subgroups of the California newborn population have very different patterns of heritable disease expression. Determining the birth prevalence of these disorders in California is a first step to understanding the short- and long-term medical and treatment needs faced by affected communities, especially those groups that are impacted by more severe disorders.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • California / epidemiology
  • Congenital Hypothyroidism / diagnosis
  • Congenital Hypothyroidism / ethnology
  • Congenital Hypothyroidism / genetics
  • Cystic Fibrosis / diagnosis
  • Cystic Fibrosis / ethnology
  • Cystic Fibrosis / genetics
  • Ethnic Groups / genetics*
  • Genetic Diseases, Inborn / diagnosis*
  • Genetic Diseases, Inborn / ethnology*
  • Genetic Diseases, Inborn / genetics
  • Genetic Testing / methods
  • Hemoglobins / analysis
  • Humans
  • Infant, Newborn
  • Metabolic Diseases / diagnosis
  • Metabolic Diseases / ethnology
  • Metabolic Diseases / genetics
  • Mutation
  • Neonatal Screening / methods*
  • Prevalence
  • Self Report


  • Hemoglobins