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.

Spinal Muscular Atrophy: A Clinical and Research Update

“…To address this issue and create a consensus, a meeting was organized by National Institutes of Health in late 2009. That meeting led to the conclusion that carrier screening is technically feasible, but its implementation calls for addressing broader issues of screening in general [10,58]. In a patient with a homozygous deletion of exon 7, the restriction fragment is absent (no copies of SMN1).…”

A Review on Spinal Muscular Atrophy: Awareness, Knowledge, and Attitudes

“…It has been estimated that between 1 and 38 to 1 in 70 are carriers of the SMN1 gene mutation (Darras 2015). Carrier screening is available and has benefited families with children affected with SMA (Prior et al 2010); however, there is a lack of consensus from professional medical organizations regarding who should be offered carrier screening (Gitlin et al 2010). In 2008, the American College of Medical Genetics (ACMG) recommended that carrier screening be offered to all couples prior to conception or early in pregnancy (Prior 2008).…”

Molecular Technologies Open New Clinical Genetic Vistas

“…A shi in carrier testing to open-access testing of any individual of reproductive age for a large number of genetic (especially recessive) conditions is under consideration in the United States, Canada, and elsewhere. e Advisory Committee on Heritable Diseases in Newborns and Children (ACHDNC) has formed a working group for this task that will include members of the Secretary's Advisory Committee on Genetics, Health, and Society (21). is committee comprises members of the scienti c, medical, academic, legal, state governmental, and business communities; their meetings are open to the public and accessible online via Webcasts (http://oba.…”