title: Carrier testing for spinal muscular atrophy.
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.
authors.affiliation: National Human Genome Research Institute, 31 Center Drive, 4B09, Bethesda, MD 20892-2152, USA. gitlinjm@mail.nih.gov
authors.forename: Jonathan M
authors.initials: JM
authors.lastname: Gitlin
authors.forename: Kenneth
authors.initials: K
authors.lastname: Fischbeck
authors.forename: Thomas O
authors.initials: TO
authors.lastname: Crawford
authors.forename: Valerie
authors.initials: V
authors.lastname: Cwik
authors.forename: Alan
authors.initials: A
authors.lastname: Fleischman
authors.forename: Karla
authors.initials: K
authors.lastname: Gonye
authors.forename: Deborah
authors.initials: D
authors.lastname: Heine
authors.forename: Kenneth
authors.initials: K
authors.lastname: Hobby
authors.forename: Petra
authors.initials: P
authors.lastname: Kaufmann
authors.forename: Steven
authors.initials: S
authors.lastname: Keiles
authors.forename: Alex
authors.initials: A
authors.lastname: MacKenzie
authors.forename: Thomas
authors.initials: T
authors.lastname: Musci
authors.forename: Thomas
authors.initials: T
authors.lastname: Prior
authors.forename: Michele
authors.initials: M
authors.lastname: Lloyd-Puryear
authors.forename: Elaine A
authors.initials: EA
authors.lastname: Sugarman
authors.forename: Sharon F
authors.initials: SF
authors.lastname: Terry
authors.forename: Tiina
authors.initials: T
authors.lastname: Urv
authors.forename: Ching
authors.initials: C
authors.lastname: Wang
authors.forename: Michael
authors.initials: M
authors.lastname: Watson
authors.forename: Yuval
authors.initials: Y
authors.lastname: Yaron
authors.forename: Phyllis
authors.initials: P
authors.lastname: Frosst
authors.forename: R Rodney
authors.initials: RR
authors.lastname: Howell
mesh_terms: D005260:Female; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000235:genetics; D009316:National Institutes of Health (U.S.); D017410:Practice Guidelines as Topic; D011247:Pregnancy; D011296:Prenatal Diagnosis; D059039:Standard of Care / Q000941:ethics / Q000331:legislation & jurisprudence; D014481:United States
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