Dempster Family Foundation Survey

The following if the link

Nearly a year ago, we received an email from Dr. Jack Routes, a clinical immunologist/physician scientist at the Medical College of Wisconsin. He described one major focus of his research was to develop and then implement an inexpensive, sensitive and specific test that would identify newborn infants with 22q.11.2. He went on to describe that he, along with Dr.Aoy Mitchell had indeed developed such a test and that the next step would be nominating this inexpensive option to the Secretary’s Advisory Committee on Heritable Disorder in Newborns and Children.

To better understand the details of the research, I invited Donna McDonald McGinn from Children’s Hospital of Philadelphia to join me in Milwaukee. We enjoyed meeting with Dr. Routes and Dr. Mitchel and learned more about their research and product development. In September of 2011 we joined The Jeffrey Modell Foundation, The Immune Deficiency Foundation, and The International 22q11.2 Deletion Syndrome Foundation in our support of this effort by nominating 22q11.2 to the Secretary’s Advisory Committee.

On January 26th we will collectively travel to Washington to present on this topic. If you have been touched by 22q, VCFS, or DiGeorge, NOW IS THE TIME RAISE YOUR HAND AND SPEAK UP. Donna McDonald-McGinn has stated that "individuals with the deletion and their families are the biggest stakeholders" and we at The Dempster Foundation agree! The 22q11.2 Deletions Syndrome Foundation has created a survey regarding 22q/Newborn Screening. The data collected and utilized within the over-all presentation in Washington D.C. on January 26th, 2012.

If you believe that 22q11.2 DS should be added to the Newborn Screen and administered to every child born in the US, please take a moment to fill out this short survey at http://www.surveymonkey.com/s/22qnewborn before January 17th, 2011.

CLICK OR COPY & PASTE THIS LINK TO YOUR BROWSER TO TAKE THE SURVEY
http://www.surveymonkey.com/s/22qnewborn

4 months ago Cubbie-Tim 2 comments 0 recs |

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No thanks.

This would cost every state in the US millions of dollars. If there is such a cheap and simple blood test to detect the abnormality, they can just do it on those that they suspect have the disease. The doctors in this article have a huge financial interest in this since they developed the test. If they convince every state to test every baby using the test they developed, then they stand to make tens of millions of dollars. This is what is wrong with medicine today. Money before patients or common sense.

by ferris2001 on Jan 15, 2012 5:12 PM CST reply actions

In general

newborn screening tests are done to identify patients who could benefit from treatment before the disease would otherwise be identified. Other newborn screening tests check for things like metabolic disorders that require a special diet to ensure brain health. You wouldn’t know to give the special diet unless you knew the baby had the disorder—hence checking for it by screening test.

That doesn’t apply here. A good pediatrician should have a suspicion for DiGeorge syndrome (or at least to look for a genetic disorder) based on the appearance of the child or because the child is found to have a characteristic heart condition. There isn’t much to be gained by checking every baby in the country for this.

Dr Routes is a great researcher, but I just don’t agree with this proposal. This is a valuable test to check for the 22q deletion on patients you suspect might have it, but I don’t see a need to check every American baby for this chromosomal disorder. There just isn’t enough that you can do to help those who are identified.

Just my opinion.

by tomas21 on Jan 15, 2012 7:08 PM CST reply actions