Carrier testing for spinal muscular atrophy |
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| Affiliation: | 1. National Human Genome Research Institute;;2. National Institute for Neurological Disorders and Stroke;;3. Johns Hopkins University;;4. Muscular Dystrophy Association;;5. March of Dimes Foundation;;6. Athena Diagnostics, Inc;;7. Claire Altman Heine Foundation, Inc;;8. Families of SMA;;9. National Society of Genetic Counselors;;10. University of Ottawa;;11. American College of Obstetricians and Gynecologists;;12. The Ohio State University;;13. Health Resources and Services Administration;;14. Genzyme Genetics;;15. Genetic Alliance;;16. Eunice Kennedy Shriver National Institute of Child Health and Human Development;;17. Stanford University Medical Center;;18. American College of Medical Genetics;;19. Tel Aviv Sourasky Medical Center;;20. Miller School of Medicine, University of Miami. |
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| 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. |
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