Attitudes of genetic counselors towards expanding newborn screening and offering predictive genetic testing to children

Susan Hiraki, Kelly E. Ormond, Katherine H Kim, Lainie Friedman Ross*

*Corresponding author for this work

Research output: Contribution to journalReview article

23 Scopus citations

Abstract

There is movement to expand newborn screening (NBS) to include conditions that challenge the traditional public health screening criteria. Little is known about the attitudes of genetic counselors towards expanding NBS and offering predictive genetic tests to children. For our study genetic counselors completed an internet survey posted on the National Society of Genetic Counselors Listserv regarding five conditions: cystic fibrosis (CF), Duchenne muscular dystrophy (DMD), glucose-6-phosphate dehydrogenase deficiency (G6PD), fragile X (FraX), and type 1 diabetes (T1D). The survey addressed attitudes towards: (1) testing high-risk infants; (2) mandatory NBS; (3) population screening beyond the newborn period; and (4) testing one's own child. Two hundred sixty-seven usable surveys were received. Over two-thirds of respondents supported testing high-risk infants for all conditions except T1D (22%). CF was the only condition for which there was majority support for both mandatory NBS (56%) and later population screening (60%). For all other conditions, later population screening was preferred over NBS (P ≤ 0.01). Genetic counselors were most likely to test their own child for CF (46%) and least likely to test their own child for T1D (6%). For each condition, genetic counselors were more likely to support NBS if they chose to screen their own newborn (P < 0.001). Attitudes towards NBS were not influenced by year of graduation or professional experience. We can conclude that genetic counselors are supportive of targeted testing of high-risk infants. They prefer voluntary population screening with consent to mandatory NBS for conditions that challenge Wilson and Jungner criteria. Their support for NBS correlates with their interest in testing their own children and not with professional experience.

Original languageEnglish (US)
Pages (from-to)2312-2319
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Volume140
Issue number21
DOIs
StatePublished - Nov 1 2006

Keywords

  • Attitudes
  • Cystic fibrosis
  • Duchenne muscular dystrophy
  • Fragile X
  • Genetic counseling
  • Genetic testing
  • Glucose-6-phosphate dehydrogenase deficiency
  • Newborn screening
  • Public policy
  • Type 1 diabetes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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