Discretionary Advisory Committee for Heritable Diseases in Newborns and Children
September 2013 Meeting
I’m a board member for the Save Babies Through Screening Foundation. We all serve the group in many ways, and one of my favorite things to do is to represent SBTS in Washington DC at US Department of Health Meetings. For those that may not know, there is a committee called the Discretionary Advisory Committee for Heritable Diseases in Newborns and Children. This group meets once a quarter to discuss the newborn screening program, and make recommendations to the Secretary of the US Department of Health. She can then take their recommendations and decide if it is something she would like to put forward to the various states for implementation as a new guideline or standard. Some of the things they discuss include which illnesses to screen for, how the screening process works as a whole, guidelines for follow-up and treatment and so on.
If you are a family that has been affected by newborn screening, and would like to be able to share your story on a national level with the people who manage the program, please reach out to us. We would love to help. The committee allows for comments from the public at their meetings, and it can be a great place to let the powers-that-be know how the program truly works in practice.
Just as a little background on me, my son Noah died at four days old from undiagnosed MCADD, a very rare metabolic disorder. His test results from his newborn screening test came in the day after he died. In my home state of Colorado, there were a number of delays that existed in the system, preventing parents like me from knowing about their child’s illnesses sooner. My husband and I worked hard to get some needed reform completed in the newborn screening policy in Colorado. After we finished our work there, we learned that the same delays exist in many states across the country. Therefore, as often as I can, I speak at the committee meetings, talking to committee members about this problem. No change has happened yet, but we are not giving up! There will be more to come.
I hope you will enjoy this recent round of updates from Washington DC. If you have any questions about what was discussed, please feel free to reach out to us at SBTS.
Assessing the Impact of the Committee’s Recommendations on Long-term Follow-up on State Newborn Screening Programs
The committee launched a survey asking about long-term follow-up programs in the states. (Ex: A child is diagnosed with an illness, and then there is follow-up that happens to teach families about their child’s illness and help them learn about treatment.) They had a big “Confidential: Do Not Distribute” on all slides because this study is brand new and still being evaluated, so forgive the lack of details. They were looking into the sorts of data that long-term follow-up programs keep, why they do it, what they use it for, how they store it, etc. It sounds like a whitepaper with the data is forthcoming so you can see the full results. I am sure there will be more on this in future meetings. I am not quite sure where they are going from this study – potentially standardizing how data collection is done? Using the nationwide data to inform choices/guidelines for the newborn screening program as a whole? Or identifying states that don’t do such a great job collecting data so they can work with them? I guess we will see as this project moves forward.
Newborn Screening Clearinghouse – Baby’s First Test CCHD Videos
Children’s National Medical Center received grant money to create educational videos for parents and providers to understand what Critical Congenital Heart Defects are, how they are tested for, when the test is given, family stories, etc. Updates on the videos were given to the committee. They were created in 2012, and have been distributed. This year, because demand for the videos has been so high, they are going to work on translating the videos into various languages so they can be more widely distributed.
The parent video can be found on the Baby’s First Test website.
The provider video is here on YouTube.
Assessing the Impact of NCAA Sickle Cell Trait Screening on State Newborn Screening Programs
NCAA Division I, II and III have mandated screening for sickle cell disease. Rice University had an experience where a football athlete collapsed and died. It turned out that he had the illness, and the parents sued the university. As a result, the university mandated screening for the illness. The NCAA as a whole decided then to add it as well. The committee plugged in, and put forward a recommendation that athletes should have the opportunity to be screened, and set guidelines on how the screening should happen. The committee says that it shouldn’t be a prerequisite to participate in sports, but just that the opportunity for testing is given. If an athlete wants to pass on the testing, they can sign a waiver releasing all liability on the university and NCAA.
The committee is now looking into the impact of that recommendation. They have been doing phone and written surveys. They have been looking into how well it works to have the state lab share the results with the student/primary care doctor/team doctor/university/NCAA. If you think about privacy of medical information, there is a process involved if someone was tested when they were younger, or needing a test in the present day, how it is done, how it gets to the NCAA, etc. This also adds workload to the state labs, and how does that impact the program overall? More or less, it seems to be going relatively okay, though there were complaints on the strain on resources for the labs. There are a few states that are really struggling with the added work load. There is also some fear over what this change could mean down the road. They are also considering what to do if this happens for another disorder for example. Or what if this extends to high school athletes? Overall, they support knowing as much as possible about your health, but there are logistical considerations to doing these sorts of things that they are trying to work through.
Laboratory Standards & Procedures Subcommittee Meeting – The committee is broken out into three subcommittees. This afternoon, I attended the lab meeting and have the following notes:
Evaluation of Current Markers for Newborn Screening for Tyrosinemia Type 1
The subcommittee has been researching Tyrosinemia Type 1 for potential addition to the RUSP (the recommended uniform screening panel – the core list of things that all states screen for). They are trying to find the right biochemical element to measure to determine if an infant has the illness. This is a concern to prevent false positives. They talked to the few states that screen for this illness now, trying to see how they do it, and what they measure, and the success rates. They are also working with the CDC on this research. Right now they are strongly considering SUAC testing. (Note: I am not a Tyrosinemia Type 1 parent, and am not so well versed in what SUAC is or what it does in the body. I am just a mom, not a doctor. Let us know if you want more information on this!)
SCID Review
Just recently SCID was added to the RUSP (the recommended uniform screening panel – the core list of things that all states screen for). There are fifteen or so states that are doing it now, and more are rolling out the program. A survey was recently done of states to see how the implementation of SCID is going, and asking what tools they needed to implement. This seems to be kind of a maintenance task as it rolls out to make sure that this goes well.
Newborn Blood Spot Screening for Pompe Disease by Lysomal Acid Alpha-Glucosidase Activity Assays; Guideline
A committee has been established to begin the case for adding Pompe to the RUSP (the recommended uniform screening panel – the core list of things that all states screen for). They are patterning it off of how they proved the case for SCID, since that process worked well, and of course incorporating what they learned along the way. They laid out some of the initial pieces of information they plan to include about the illness in their proposal, as well as who sits on this work group to pull the needed information and studies together. A lot more work to follow on this by the subcommittee.
Thank you and stay tuned for tomorrow’s updates!
Sarah Wilkerson
Save Babies Through Screening Foundation Board Member
Blog posts are written by both Save Babies Through Screening Foundation representatives and others not officially affiliated with the foundation. Posts do not necessarily reflect the views of SBTS. Posts are not medical advice. Please talk to your physician.