Carrier testing for spinal muscular atrophy

Jonathan M. Gitlin, Kenneth Fischbeck, Thomas O. Crawford, Valerie Cwik, Alan Fleischman, Karla Gonye, Deborah Heine, Kenneth Hobby, Petra Kaufmann, Steven Keiles, Alex MacKenzie, Thomas Musci, Thomas Prior, Michele Lloyd-Puryear, Elaine A. Sugarman, Sharon F. Terry, Tiina Urv, Ching Wang, Michael Watson, Yuval YaronPhyllis Frosst, R. Rodney Howell

Research output: Contribution to journalShort surveypeer-review

22 Scopus citations


Spinal muscular atrophy is the most common fatal hereditary disease among newborns and infants. There is as yet no effective treatment. Although a carrier test is available, currently there is disagreement among professional medical societies who proffer standards of care as to whether or not carrier screening for spinal muscular atrophy should be offered as part of routine reproductive care. This leaves health care providers without clear guidance. In fall 2009, a meeting was held by National Institutes of Health to examine the scientific basis for spinal muscular atrophy carrier screening and to consider the issues that accompany such screening. In this article, the meeting participants summarize the discussions and conclude that pan-ethnic carrier screening for spinal muscular atrophy is technically feasible and that the specific study of implementing a spinal muscular atrophy carrier screening program raises broader issues about determining the scope and specifics of carrier screening in general.

Original languageEnglish (US)
Pages (from-to)621-622
Number of pages2
JournalGenetics in Medicine
Issue number10
StatePublished - Oct 2010


  • carrier screening
  • meeting report
  • national standards
  • policy
  • spinal muscular atrophy

ASJC Scopus subject areas

  • Genetics(clinical)


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