Although technically California is screening for more than 70 diseases, customary disease-counting practices show that the program is screening for far less. Apparently the number of diseases being screened for in California is being inflated by counting disease variants in the total count. For instance, the California list of screened disorders reflects that the state screens for 24 hemoglobin diseases. This would be counted as "1" in most other screening programs and is reflected as 1 of 29 on the national screening recommendations. Furthermore, until the recent California screening panel expansion, California was typically recognized as screening for four diseases, not 39 as has been quoted in the California media this week.
Although this is a seemingly insignificant issue, it is misleading to your readers about the number of diseases being screened for in the California newborn screening panel. This is very risky to health of California babies as California does not meet the current recommendations to screen for 29 diseases; although this would be hard to catch when you read that national recommendations are 29 and then read that California screens for "more than 70 genetic conditions" as quoted in your recent article. Additionally, parents whose children were born before the August 1st expansion will likely believe that children were screened for 39 diseases, when in fact it boils down to only four.
As you probably are aware, current recommendations by the American College of Medical Genetics, the Save Babies Through Screening Foundation, the March of Dimes and the American Academy of Pediatrics recommend that every baby be screened for 29 diseases. (Save Babies recommends these same 29 plus a number of additional diseases.) Since California has padded their disease count to 75, it appears to have met the national screening recommendations of 29 diseases. California, however does not meet these recommendations.
California does not screen for Biotinidase Deficiency or Cystic Fibrosis which are included in the national recommendations of 29 diseases.
The problem with bloating the disease count is that it robs the public and policy makers from being able to compare the California NBS program to other states and to the national screening recommendations. It gives California parents a false sense of security that their children are being fully screened for the nationally recommended number of diseases when they are not. It also falsely allows California policy makers to believe that California is leading the U.S. in newborn screening when in fact they have not yet met the national screening recommendations. This could very much hinder further advancement of the California NBS Program since decision makers will likely think (falsely) the California program has meet the national screening recommendations.
I applaud the efforts being made in the California newborn screening program. This "real" progress is a reason to celebrate in itself. It does not need such pretentious overblown counting practices to be considered a victory for California babies. It's a shame it is being tainted by such a horrible "catch 22" for the health of California babies.
Tera Mize and her husband co-founded Save Babies Through Screening in 1998 after the death of their second son. Tera also sits on the Georgia Newborn Screening Advisory Committee as a family/consumer representative.
