Updates from Washington – Day 2

Dried Blood Spot Pic

Thanks for following our posts about this quarter’s meeting of the Secretary’s Advisory Committee for Heritable Diseases in Newborns and Children! I am pleased to send more updates from this second day of meetings.

Update on State Implementation of Screening and Data Collection for Congenital Heart Defects

I came in on this presentation late, since I had to drop my son off at school this morning. I think I caught some of the main highlights though. They spoke about the expansion of testing for CCHD across the country. The HRSA (Health Resources and Services Administration) is funding some state’s programs, while others are being funded by the individual states on their own. Below is a map that shows where programs exist across the country:


The two biggest barriers preventing states from adopting CCHD screening programs are funding, and convincing public health decision makers to try it.

The committee is working to determine the role of public health in CCHD testing. They feel that quality control (how states test) and impacting whether the testing done or not done will be how they will likely plug in. There are several organizations looking into it like the CDC, American College of Medical Genetics, Association of Maternal and Child Health, among others.

Update on State Implementation of Screening and Data Collection for SCID

SCID  (Severe Combined Immune Deficiency, also known as Bubble Boy Disease) has been a hot topic as screening for it using the dried blood spot technology has been rolling out across the United States. Currently twelve states have established programs for it, with many more following suit this year. A map of where we stand on this issue can be found below:


In 2012 alone, 2.85 million babies were screened, which represent 45% of all babies, and lots of positive test results have been found as a result. They estimate that as more programs ramp up, the percentage will be 62% of all babies by 2014.

The Centers for Disease Control and the National Institute of Child Health and Human Development are working to support labs as they develop these programs, as well as the Immune Deficiency Foundation (they have developed what appear to be some great resources for families), among others.

Update on NIH Genomic Sequencing and Newborn Screening Disorders Initiative

This is a project that is in the beginning stages that addresses the speed at which this field of genetics is moving. They want to explore how this tidal wave of information that genetics provides impacts the public health system, the impact on newborn screening and children’s health, challenges, opportunities, etc.

They want to collect data and do an analysis on what we are doing currently, and what could be done going forward. They also want to conduct clinical research as well. And, they also want to take into account the legal, ethical and social issues of expanding genetic testing of newborns.

They are still waiting to get funding to do this analysis completely. They have some leads for this – some groups that are interested and grant proposals are out. They plan on this being a five year project that will likely cost $1.25 million a year to do it. This project would potentially begin in July if funding comes through.

Update on MDA Muscle Disease Symposium on Newborn Screening for Duchenne Muscular Dystrophy (DMD)

They had a gentleman come and speak about what had happened at a recent symposium in September on Muscular Dystrophy. Please note that they were not coming to the committee to request that DMD be added to the RUSP (the recommended uniform screening panel) at this time. It was just informational. There is another Secretary’s Advisory Committee that is dedicated exclusively to Muscular Dystrophy.

At the event, they reviewed recent data on the illness.  Starting with testing for it, they have been through several rounds of attempts to build a viable newborn screening test. This was done at Nationwide Children’s Hospital in Ohio, and was funded by the CDC (Centers for Disease Control). They have now at this point developed a test that uses the dried blood spot method that is very effective, and has a low false positive rate. It is also very cost effective for families to take advantage of it, which is another great benefit.

They also reviewed treatment at how they have been able to successfully stave off the effects of the illness. It was clear that the earlier the diagnoses, the better off the child will be. They have some new things they are trying, and feel free to check out their slides when they are posted on the committee’s website for more information.

The committee asked if the Muscular Dystrophy folks would like to submit a proposal for consideration for being added to the RUSP, and it sounds like that is very possible. They need to get their research and application in order for it to be submitted, and the committee seemed enthusiastic to delve into this possibility.

Subcommittee Meeting Updates

The committee is broken out into three subcommittees that work on specialized projects according to their particular area of focus. The following are the different groups:

  • Subcommittee on Laboratory Standards and Procedures
  • Subcommittee on Education and Training
  • Subcommittee on Follow-up and Treatment

Below is a review on what projects each group has on their plate:

Subcommittee on Laboratory Standards and Procedures

Association for Public Health Laboratories (APHL) came to the committee and discussed their upcoming plans to celebrate the 50th anniversary of newborn screening in the US this year. They have a number of things they want to do, including a coffee table book outlining the history of the program and family stories that will be coming out in March. I believe some of our Save Babies families submitted stories for this project, and I am eager to see the final product. Another thing they are doing which is interesting to me is hosting an event called “A Day on the Hill” where the APHL, families and other advocates can go to Capitol Hill to speak to legislators to promote newborn screening, and encourage them to continue funding and expanding the program. They will then have a banquet event that night to celebrate the anniversary as well. This will tie in with the September Secretary’s Advisory Committee Meeting too. Know that this is subject to the APHL securing funding for these activities, which is a concern at the moment.

Review of Tyrosinemia Type 1 – One of the housekeeping sorts of activities that this group does is to review current illnesses on the RUSP (recommended uniform screening panel) to evaluate the effectiveness, and see if any tweaking needs to me made to make it more successful. Up on the docket this time was Tyrosinemia Type 1. They are in the beginning stages of this review and admitted that this presentation may be premature as more data needed to be collected and evaluated. They cited that there have been some studies done in Canada in regards to different treatment options that need to be taken into consideration. The testing phase also appeared to have some potential issues as well that they are currently working out. They estimate that there are currently 165 patients living with this illness across the USA, and their conclusion at this point is to leave it on the RUSP. They plan to continue on with the review, and report on it more fully at the next Committee meeting in May.

Newborn Screening Health IT – A representative from the National Library of Medicine came to present on the different equipment that is used in testing. She spoke on the different types of technology they are testing out to check for critical congenital heart disease. They are looking to see what is most effective, like the types of sensors, types of tape to hold on the sensors, the sizes of each, etc. She also talked about hearing screening, and new codes for insurance. Honestly, I got a bit lost in this one. Some things are hard for my layman’s ears to make sense of! If you have questions on this, the slides will be on the Secretary’s Advisory Committee’s site, and the presenter’s contact information is on the last slide.

Subcommittee on Education and Training

New Conditions for RUSP – This group is doing some exploratory work to consider new illnesses to research and bring forward for consideration for the RUSP (recommended uniform screening panel). They want to be proactive, and choose something that has a good outcome for screening and where early treatment can be beneficial. They have settled on three illnesses for consideration. They are: Fragile X Syndrome, Long QT Syndrome, and Wilson’s Disease. Now that they have identified potential illnesses, next steps include reaching out to advocacy groups, those that have done research, etc. Then, they report back to the committee about lessons learned, and possible next steps.

Improving Proposal Process for RUSP – They are working on a project to review proposals for adding a new illness to the RUSP (recommended uniform screening panel) that have not been successful. They want to evaluate why they didn’t pass, see what the common issues were, and if more training needs to be done to help people submit more successful proposals. They plan to create a 30 page document that explains the committee processes, details about the RUSP, and explanations of the rules set on proposals. This booklet will also give common reasons why a condition doesn’t move forward. A final document will hopefully be ready by the next meeting this spring for the committee’s blessing and to identify next steps.

Subcommittee on Follow-Up and Treatment

Note: Before I start, I hate to admit it, but I have a difficult time understanding the lady that heads up this subcommittee. She doesn’t break things down for the ease of the layperson’s understanding, so some of this is just confusing to me. She is super nice from what I can tell, but her presentation skills could use some work. Here’s my best guess at what they are working on!

Newborn Hearing Screening/Congenital Heart Screening – There was a recent study done on these programs in the areas where both tests are offered. They looked into if data received from these tests are recorded on the newborn screening card or on the birth certificate, and trying to see if it helps diagnose issues in children. Honestly, this was the most difficult for me to figure out, so I could have this completely wrong. One of our Save Babies advisors (not the head of this subcommittee) was heavily involved in this, so let us at know if you’d like to learn more about this project.

Outcomes After Newborn Screening Project – The subcommittee came up with a matrix to analyze treatment of any given condition. This will help them evaluate the thoroughness of any treatment plan and identify areas where more research needs to be done. They used Sickle Cell as a test case to see how it fit into their matrix to ensure that they are looking at treatment from every angle. They basically wanted to standardize how this process of researching treatments is completed. It measures the treatment itself, as well as the outcomes.

Update on Medical Foods – Depending on the condition, some special foods may be prescribed to your child (for example: low protein formula for PKU babies). These foods can be quite costly to families, and unfortunately as the subcommittee looked into this issue they received disheartening news that there is no federal authority that requires that states cover medical foods for the families that need help the costs the most. States have authority to make those decisions individually. In addition, there is not any right of appeal if food is not covered by the state either. Medical necessity doesn’t matter. The advocacy community is still fighting to change this, and the National Institute of Health is working on helping to get good research to help these advocacy efforts. One gentleman on the subcommittee said to pay attention to state core benefit package to see if that benefit is included. Though another member said to note that for some states there is no avenue to do that. Know that the subcommittee is aware of this problem and is deeply concerned by it, and are looking for a way that they can plug in and help. I hope to hear more about this in upcoming meetings.

Thanks for following along! I kept hearing mentions that the next meeting would perhaps be moved to April rather than do it in May as their website currently advertises, and that it would be an abbreviated meeting. That means that the subcommittees will likely not meet. They will just do project updates as a whole. This meeting was a virtual meeting, and the chairperson didn’t really seem to be a fan of the format. I am not sure what to expect in April, but know that as always, Save Babies has representation there to keep our finger on the pulse of what is happening at a national level. Check the Secretary’s Advisory Committee Meeting site for details as the timing gets closer, and let those of us at Save Babies know if you have any issues that you think should be brought up!

Thanks again,

Sarah Wilkerson, SBTS 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.

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