December 10, 2008

Spinal muscular atrophy genetic test urged

The American College of Medical Genetics says a genetic test for spinal muscular atrophy should be offered to all couples.

The statement appears in the November issue of the organization's journal Genetics in Medicine.

ACMG officials said spinal muscular atrophy is a severe neuromuscular genetic disease caused by mutations in the SMN1 gene. It affects approximately 1 in 10,000 infants, causing progressive muscle weakness and death.

The ACMG said tests to identify carriers of the gene responsible for SMA have generally been offered only to people with a family history of the disease.

Because SMA is a common genetic disorder in all populations, carrier testing should be offered to all couples regardless of race or ethnicity, said Ohio State University Professor Thomas Prior, the author of the recommendation issued by the ACMG's Professional Practice and Guidelines Committee.

It is important that all individuals undergoing testing understand that a carrier is a healthy individual who is not at risk of developing the disease, but has a risk of passing the gene mutation to his/her offspring, according to the statement.

The new recommendation to extend SMA carrier screening to the general population is a good example of the way in which technical capabilities and knowledge in the field of genetics are advancing to the point that entire populations stand to benefit, said Dr. James Evans, editor-in-chief of the journal.