Before You Swaddle: Heel Prick
How one drop of blood (and a $3.2 million grant) is making genetic testing completely free, inclusive, and accessible in NYC– at least for newborns.
By Annie Abramczyk
Isabella Buitron is fluent in English, Spanish, and explaining genetic testing. She celebrates 20 birthdays every day at work and speaks to at least 40 new parents daily.
Her mission: to inform them how a heel prick can change lives.
Buitron, 22, is a clinical research coordinator in the Genetics and Genomic Sciences department at Icahn School of Medicine at Mount Sinai, working on a research study called ScreenPlus, one of the world’s first inclusive “comprehensive, flexible, multi-disorder newborn screening programs,” according to Buitron. She explains the study to families and obtains consent from mothers to enroll their newborns.
The study started in October of 2019 when Dr. Melissa Wasserstein was awarded $3.2 million from the National Institutes of Health (NIH) to conduct the most expansive consented pilot newborn screening study in the country, according to AP news.
ScreenPlus is a voluntary newborn screening program identifying 14 additional rare diseases to the national standard NBS testing (Newborn screening). The triplet-kit testing takes 2–3 weeks.
The study is estimated to run approximately five years, screening 175,000 babies.
Primarily funded by the NIH and nonprofits, ScreenPlus is a massive turning point in accessibility and cost of healthcare: giving free genetic screening to patients 0–4 weeks old.
ScreenPlus is happening at nine hospitals in New York City, chosen because of their high birth rates (around 15 to 20 babies per day) and their diverse patient populations.
The research criteria are all about inclusivity. Patients of all ethnicities, races, citizenship statuses and socio-economic backgrounds are invited to participate.
Although ScreenPlus has its own medical significance in genetic research, it also is setting a new precedent for future accessible, equitable healthcare programs in the US– ensuring that everyone has the opportunity to participate in the newest medical technology. From a larger genetic pool, doctors can catch, diagnose, and treat genetic rare diseases which previously lacked information due to historically myopic exclusivity in research.
I spoke with Buitron about her research and the progress of the study on a Friday morning at 7:30 AM over the phone before her work at hospital.
Q: How do the families benefit from the study?
A: The study is very minimal risk. It can help doctors and parents know if their baby has a rare disorder. We offer to prescreen all babies after they’re born. They get a heel prick. There’s no extra blood work and no extra cost to them. It takes a small blood sample, and we send it to the Department of Health. The blood is screened for 56 treatable disorders. Those disorders have FDA-approved treatments, or they have investigational therapies that are currently in clinical trial phases. So if the baby had one of those disorders, treatments are available. And if everything is normal, we’ve still learned something about these disorders and how the mutations or variants can present while screening for those disorders. That could help other babies.
Q: How does genetic testing in the rest of America compare to this clinical study?
A: Outside of the study, genetic testing is a big field. There are so many things that you can do, starting with prenatal genetic testing. Some carrier panels span up to 508 disorders. One of those is the Sema4 panel. There’s the CVS testing and amniocentesis, but those check for more chromosomal abnormalities and can be more invasive. But genetic testing is not always offered across all OBGYN and pediatrician offices. It’s not the current gold standard of care because it can get expensive. The cost is why it’s largely not done across the board. People often don’t participate. So with our test, even though we aren’t offering to screen 508 disorders, we are offering to screen for an additional 14 to the regular 50 disorders. It’s really helpful for understanding some of these 14. Although they’re rare individually, overall, the 14 could turn up. Not many babies have them, but that still makes a difference.
*for reference, tests can range from $100-$2,000, according to the National Library of Medicine.
Q: So, how do the parents react to the testing proposals?
A: It definitely depends. Some are excited about it and want to do it. Some people, even if they decline, recognize the importance of our work. Not everybody chooses to participate. There are many different reasons parents are enthusiastic about it. Whether they want all the information they can have on their child, want to help other babies, or are enthusiastic about research. Most people are welcome to letting me speak. Overall, people are grateful for the information and to learn about what’s being offered.
Q: Why do you think it’s important that this study is being conducted at this particular hospital in NYC, and what is that doing for access to healthcare?
A: I think it’s important that this study is being conducted at this particular hospital in New York because it’s a high birth rate hospital with a diverse patient population. A lot of times, when we look back on genetic databases for reference, there’s not a lot of data diversity. When looking at variations, mutations, and genes, it’s important to grow that data. We can expand what we know about disease-causing variants. A gene could have a mutation, and it may not yet be known that it is disease-causing. We can eliminate variants with uncertain significance by having it done at a high birthrate hospital and offering ScreenPlus to babies in a diverse patient pool.
Q: You mentioned how this study focuses on providing free healthcare for everyone regardless of race, socioeconomic status, etc. How is this study changing the industry standard in medicine regarding access to healthcare?
A: You can do work and studies in a diverse patient population, but that doesn’t mean those studies are always inclusive to the diverse patient population. This study is important because the only stipulation required to participate is that the baby is under a month old. Anyone of any race, gender, or socioeconomic background, who speaks any language, is included in this study as long as the baby was born at the hospitals where we conduct the study. Therefore, we reach patients from all backgrounds and can gather more genetic information to help us with unknowns in genetic sequencing that have otherwise not been covered or overlooked due to a lack of diversity in patient pooling. Our consent form comes in 9 languages, but that doesn’t mean we can only reach people in 9 languages. I speak to patients in English and Spanish daily, and the hospital provides interpreters and translators for free as needed. The patient can speak any language and still be included. Mt. Sinai Hospital has a diverse patient population, and ScreenPlus is actively reaching that patient population. You want patients to have the opportunity to access the materials in a language that they are comfortable speaking. Not having extreme inclusion or exclusion criteria is key.
