A blood test exists to screen parents for a rare disorder called spinal muscular atrophy, but two American medical groups disagree on whether it should be offered to all couples.
The lab work costs several hundred dollars, and there’s no guarantee that insurance will cover it.
The American College of Medical Genetics, a 1,500-member organization of doctors, scientists and genetic counselors, recommended two years ago that carrier screening for SMA should be offered to all couples preparing to have a baby.
But the 54,000-member American College of Obstetricians and Gynecologists determined last year that carrier testing shouldn’t be offered to the general population. It should be made available, the organization said, to those with a family history of SMA.
Few parents know, though, whether they have such a history.
SMA generally is passed down to a baby by two parents who are carriers of the gene mutation but who typically aren’t affected by SMA.
The obstetricians group said the cost of testing, the complexity of educating and counseling parents about the test, and the lack of pilot projects to see how the screening would be received work against offering it to all couples.
The genetics group says the genetic test is accurate and the disease is common enough to require offering it to all couples.
Paula Lavigne and Chris Arnold, Omahans whose 5-month-old son, Wyatt, died of SMA last Sunday, said they wish they had known about SMA and that carrier screening was available. Lavigne had a carrier screen done for cystic fibrosis but not for SMA.
The obstetricians group in 2001 approved offering cystic fibrosis screening to all couples seeking preconception guidance or prenatal care.
While cystic fibrosis may be more prevalent than SMA, the latter disorder is the leading genetic killer of babies.
Dr. Thomas Prior, the researcher at Ohio State University who developed the SMA carrier screening test in the 1990s, said he expected the obstetricians group to change its opinion eventually.
“They need some more information. That’s the way I read it,” Prior said last week. “It’ll happen.”
Contact the writer: 402-444-1123, rick.ruggles@owh.com
Copyright ©2012 Omaha World-Herald®. All rights reserved. This material may not be published, broadcast, rewritten, displayed or redistributed for any purpose without permission from the Omaha World-Herald.
