Newborn Screening Project

Newborn Screening Alliance

There are 3.6 Million babies born in the United States every year. After a baby is born in any hospital across the country, there are 5 drops of blood that are taken from the baby’s heel and placed on a blood spot card. This blood spot card goes to the state lab where this card is tested for conditions that have a viable treatment. Considered one of the most successful public health programs in the country, NBS has the unique ability to provide timely identification of serious health conditions early in a newborn’s life, allowing for immediate, and often lifesaving diagnosis and treatment to begin. Approximately 1 in 300 newborns have a condition that can be diagnosed through NBS, and annually more than 12,000 infants receive life-altering treatment due to this public health program.1 Newborn screening, although described as one of the most successful health programs in the United States, still has large gaps which can be addressed.  The problem is that the conditions tested for are determined by the state you live in and the process of evaluation is slow and tedious leading to needless permanent disability or death. The federal government has created a system to nominate and review conditions to determine whether or not they fulfill the criteria which are  1) valid newborn screening assay 2) the condition has a viable treatment. These conditions undergo a lengthy process and if approved added to the  Recommended Uniform Screening Panel (RUSP). The Advisory Committee on Heritable Disorders in Newborns and Children is tasked with this effort and it is governed by the secretary of health. Unfortunately, this committee is composed of clinicians, many lacking newborn screening and disease specific experience. The patient voice is invisible on the committee as there are no current or past members representing rare disease groups. Typically, patient advocacy groups, who have limited resources are the submitters for their condition’s nominating package, and in the past, the lack of patient protections and accountability has led to an unnecessary delay in adding new conditions and community wide uncertainty over the process itself. These delays are unacceptable when there are currently FDA-approved treatments and validated screening tests available for these patients and families that can yield better, often life-saving or life-altering, health outcomes. Currently, it can take over 5 years for a condition to be nominated and added to the RUSP, followed by an additional 10 years, on average for a condition to be screened for in 50 states, resulting in preventable deaths and disabilities. As a result, our country’s patchwork newborn screening system is plagued by “Death by Zip Code”, where we are allowing our children to be lost to bureaucracy.

To address these issues we have come up with a list of needs to change within the current system. Working with other patient advocacy groups we have established a newborn screening coalition which hopes to change the following items in the ACHDNC:

1) Guidance and Information for Patient Groups.—within 45 days and upon request shall provide patient representatives guidance and condition-specific  information, including: application and approval data requirements, processes for nominating a condition to the uniform screening panel, appraisal and assessment of data, identification of data evidence gaps prior to nomination submission, and opportunity to attend office hours.

2) No Tie Votes. — Should a tie vote in the Advisory Committee occur, it will be considered a favorable vote for the purposes of sending forward the recommendation to the Secretary.

3) Patient Representation. — The Advisory Committee shall have at least two voting members who represent the patient community under consideration for inclusion on RUSP and shall be allowed time to speak on the agenda of any scheduled public meeting.

4) Patients have Final Word. - Representatives of the patient community shall be the final speakers prior to a vote to respond to presented information and may respond to any questions during meetings.

5) No Stopping of Review and Approval. — The Advisory Committee may not refuse to accept an application or otherwise pause consideration of new conditions. 

6) Medical and Treatment Expertise. —

(A)   The Advisory Committee shall include both a representative from the Food and Drug Administration (FDA) with knowledge of the approved and potential therapeutics associated with the condition under review, and medical experts from that particular condition to provide scientific information on treatment options for the given condition, particularly for newborns.

(B)   If there is an FDA-approved treatment for the condition under review, and if the treatment’s indication is inclusive of the pediatric population, the Advisory Committee shall not revisit questions regarding safety and efficacy of such drug treatment

7) Meeting Accessibility. — The Advisory Committee meetings shall allow for both in-person and virtual attendance. Meeting information shall be updated in a timely manner in the Federal Register, on the Advisory Committee website, and provided in writing to the nominating organizations to ensure sufficient opportunity for the public to submit comments at least 30 days prior to each meeting. The Advisory Committee shall provide an easily accessible opportunity to submit comments along with each meeting announcement.

8) Number of Annual Conditions Dictated by Science and Need. — The Advisory Committee shall not impose a limit on the number of conditions it may consider in a calendar year.

9) N1 rule should be stricken from the list of necessary criteria for nomination. The assays have proven to be viable and the time needed to identify an N1 in a pilot study for a rare condition is unnecessary and leading to delay in implementation.

10) Required training for any new members added to the ACHDNC on  newborn screening practices.

11) Advocating for federal funding for state implementation.

This solution will benefit an estimated 12,000 babies born with a rare disease in the United States annually by ensuring they are tested for as many conditions that have a proven treatment. The newborn screening (NBS) system has grown from screening for a single disease in a few states to a system capable of screening every newborn in the United States for more than 60 genetic conditions. NBS has expanded over time due to discoveries of novel technologies and therapies to screen, diagnose, treat, and manage life-altering conditions, but the current system is unequipped to meet the demands that therapeutic advances offer newborns. In a 2021 RTI International survey of NBS experts, 100 percent of participants acknowledged that change, either small or large, was needed within the current NBS system. Modernization of the NBS system is necessary to ensure that newborns with treatable conditions can be identified and offered life-saving interventions at the earliest moment possible to optimize their health outcomes.

A group of more than 100 NBS stakeholders participated in the Newborn Screening Modernization Roundtable Series in 2022 with the goal of developing policy solutions to transform and optimize the existing NBS system. The Roundtable brought together a broad collection of NBS stakeholders including academic researchers, state public health officials, patient advocacy organizations, industry, and government officials to identify key priority areas and the actions needed to achieve those goals. 

The ability to make changes to federal NBS programs has been stalled with the recent failure to pass federal legislation. The Newborn Screening Saves Lives Reauthorization Act is a federal bill that would reauthorize key NBS programs, expand and improve state grants providing for support, educational resources and follow-up services, ensure quality assurance for laboratories, and help to improve federal data collection to better understand best practices within NBS. Despite its importance, the bill remains stalled, failing to pass in the United States in the previous two Congressional sessions. 

We need our group to continue to be heard to advocate for the children yet to be born and to ensure their lives will be the healthiest possible with this simple blood test at birth. We have the capability to save our children and to save the health system from caring for children that will need services for their lifetime.

Not only will this solution save our nation’s children - but will also save families’ productivity from lost wages, psychological issues and help to save the family unit.

By making the changes outlined above we will change the course for many children and families. Imagine finding out that your child would have lived or not have been permanently disabled if they only lived in another state?

Imagine knowing that the condition your child has could have been prevented with an early diagnosis?

After losing my son, Aidan to ALD (adrenoleukodystrophy) at the age of 6 in 2012 - I started the Aidan Jack Seeger Foundation in order to save other children from a late diagnosis. Aidan was a perfect, healthy baby - meeting all of his milestones, played sports and excelled in school. In the latter part of his first grade year of school - Aidan started having vision problems - bumping into things and writing off the page in school. After several physician appointments - Opthamologist, pediatric ophthalmologist, retina specialist - we ended up at a neurologist. On a physical check up, the neurologist did not think anything was wrong with Aidan, but ordered an MRI to be sure. With the results of the MRI, we learned Aidan had ALD - an X-linked inherited metabolic condition most severely affecting boys and men. ALD is demyleniating- all neurological function is affected - all of your abilities - sight, hearing, mobility, the ability to eat are taken away until you are in a vegetative state and ultimately, death. Although Aidan was a late diagnosis, meaning ALD had severely affected his brain, he was still eligible for a bone marrow transplant. We moved our family to North Carolina where  Aidan received a bone marrow transplant. Unfortunately, the disease was too far progressed and Aidan spent the last 10 months of his life living in the hospital and passed away on April 29, 2012 at the age of 7 ½.

During the time I was living in the hospital, I came across the fact there was a newborn screening test for ALD, but not one state was putting it to use. I knew at that moment that this was something I wanted to do. It would not help my son, but would help thousands of boys, who also received a late diagnosis.

In September 2012, I started the Aidan Jack Seeger Foundation, where our primary focus was newborn screening. On March 29, 2013 “Aidan’s Law” was signed in New York - Testing began on December 30, 2013 and  New York became the first state to test every baby born for ALD.

December 30, 2023 marked the 10 year anniversary of Aidan’s Law and during that time New York has tested 2.2 Million babies and diagnosed 157 babies with ALD. 157 babies, not counting siblings and other affected family members. 157 families given the lifesaving knowledge they need at birth in order to monitor and treat before the onset of symptoms - 

As of today due to our advocacy, 44 states are screening for ALD. As you can surmise, yes 44 out of 50 states after 10 years of screening in New York.

This experience has led me to be a passionate advocate for all newborn screening. Realizing this simple blood test at birth can save countless lives through an early diagnosis and treatments that can be utilized to save lives. I have worked on newborn screening on both the state and federal levels for over 10 years and have witnessed the positive impacts.

My solution is innovative because I have spent over 10 years working on newborn screening and have witnessed the issues first hand and have worked on both the state and federal levels with all key stakeholders to create change. Starting with the newborn screening laboratories in each state and learning what their issues and challenges are. Moving to the state health department or newborn screening committees and working closely with them to help accomplish their goals. I have worked with legislators, industry partners and most importantly other rare disease groups. I believe collaboration is key to creating change. Bringing all of these stakeholders together during our annual meeting which we have held since 2016 we have been able to work closely to discuss newborn screening on all levels and create a plan to try and resolve some of the issues with the current system. These solutions outlined above will be instrumental to changing the newborn screening system and trying to keep up with scientific breakthroughs in treatment availability.

Science has progressed significantly with the advancement of gene therapy. We are lacking the ability to diagnose our babies in time to use these viable treatments to save lives. A late diagnosis will mean the treatment is no longer viable.

We can only accomplish early diagnosis with an improved newborn screening system.

We are a small grass roots non profit. In order to continue our advocacy and create change we need funding to increase and continue our capacity building and include more professionals to accomplish our goals.

Specifically we would like to increase:

(1) structure - creating a website, meetings, travel

 (2) management systems

 (3) enabling policies

 (4) knowledge and learning - marketing and outreach

 (5) leadership

We work with all stakeholders in our community. We undertand that in order to create change we need to ensure all stakeholders have a voice. Our team brings these voices together to undertand what each needs and to collaborate. We have a newborn screening program manager, a mom diagnosed through newborn screening, patient advocates, clinicians (specifically geneticist, neurologist and endocrinologist) and government affairs leaders as part of our group.