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 Yaron & 2 others Phyllis Frosst, R. Howell

Research output: Contribution to journalArticle

18 Citations (Scopus)

Abstract

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
Pages (from-to)621-622
Number of pages2
JournalGenetics in Medicine
Volume12
Issue number10
DOIs
StatePublished - Oct 1 2010

Fingerprint

Spinal Muscular Atrophy
Inborn Genetic Diseases
Medical Societies
National Institutes of Health (U.S.)
Standard of Care
Health Personnel
Newborn Infant

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Gitlin, J. M., Fischbeck, K., Crawford, T. O., Cwik, V., Fleischman, A., Gonye, K., ... Howell, R. (2010). Carrier testing for spinal muscular atrophy. Genetics in Medicine, 12(10), 621-622. https://doi.org/10.1097/GIM.0b013e3181ef6079

Carrier testing for spinal muscular atrophy. / Gitlin, Jonathan M.; Fischbeck, Kenneth; Crawford, Thomas O.; Cwik, Valerie; Fleischman, Alan; Gonye, Karla; Heine, Deborah; Hobby, Kenneth; Kaufmann, Petra; Keiles, Steven; MacKenzie, Alex; Musci, Thomas; Prior, Thomas; Lloyd-Puryear, Michele; Sugarman, Elaine A.; Terry, Sharon F.; Urv, Tiina; Wang, Ching; Watson, Michael; Yaron, Yuval; Frosst, Phyllis; Howell, R.

In: Genetics in Medicine, Vol. 12, No. 10, 01.10.2010, p. 621-622.

Research output: Contribution to journalArticle

Gitlin, JM, Fischbeck, K, Crawford, TO, Cwik, V, Fleischman, A, Gonye, K, Heine, D, Hobby, K, Kaufmann, P, Keiles, S, MacKenzie, A, Musci, T, Prior, T, Lloyd-Puryear, M, Sugarman, EA, Terry, SF, Urv, T, Wang, C, Watson, M, Yaron, Y, Frosst, P & Howell, R 2010, 'Carrier testing for spinal muscular atrophy', Genetics in Medicine, vol. 12, no. 10, pp. 621-622. https://doi.org/10.1097/GIM.0b013e3181ef6079
Gitlin JM, Fischbeck K, Crawford TO, Cwik V, Fleischman A, Gonye K et al. Carrier testing for spinal muscular atrophy. Genetics in Medicine. 2010 Oct 1;12(10):621-622. https://doi.org/10.1097/GIM.0b013e3181ef6079
Gitlin, Jonathan M. ; Fischbeck, Kenneth ; Crawford, Thomas O. ; Cwik, Valerie ; Fleischman, Alan ; Gonye, Karla ; Heine, Deborah ; Hobby, Kenneth ; Kaufmann, Petra ; Keiles, Steven ; MacKenzie, Alex ; Musci, Thomas ; Prior, Thomas ; Lloyd-Puryear, Michele ; Sugarman, Elaine A. ; Terry, Sharon F. ; Urv, Tiina ; Wang, Ching ; Watson, Michael ; Yaron, Yuval ; Frosst, Phyllis ; Howell, R. / Carrier testing for spinal muscular atrophy. In: Genetics in Medicine. 2010 ; Vol. 12, No. 10. pp. 621-622.
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