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The Big Challenge… With Jill Maron

With the ever-increasing potential of new technology and the exponential growth of the life sciences field, researchers are always running into new problems to solve. In this interview series, we get scientists’ opinions on the ‘Big Challenge’ in their field and the steps being taken to address it. From new and unique hurdles to fresh takes on common problems, we dive into the complexities of the research landscape.

In this interview, we chat to Jill Maron (Chief of Pediatrics, The Warren Alpert School of Brown University) about the big challenges in newborn sequencing.

Want to hear more from Jill? Come and hear her speak at The Festival of Genomics and Biodata!

Could you introduce yourself and tell us about your background, your role and what you work on?

I am the Pediatrician-in-Chief at Women & Infants Hospital of Rhode Island (Brown University School of Medicine) and a neonatologist by clinical training. I have spent my career as a research-scientist developing and integrating novel diagnostic assays into newborn care. 

Recently, I served as a Co-PI on the national Genomic Medicine for Ill Neonates and Infants (GEMINI) trial that compared the diagnostic yield of rapid whole genomic sequencing to a comprehensive targeted gene panel (NewbornDx, Athena/Quest) for critically ill, symptomatic infants.  Highlights of the study included the superior diagnostic yield of rWGS compared to the panel, though the panel returned results in a shorter time frame.  The study also highlighted how much we still don’t understand about the early phenotypic presentation of many genetic disorders.  The GEMINI study enrolled 400 infants nationwide and identified 134 novel variants. This finding demonstrates the power of genetic testing early in life in children suspected of a genetic disorder.

What would you say is the big challenge in your field?

I would actually say the field has two major challenges.  The first challenge is payor reimbursement for in-hospital testing in critical ill infants. The second is our ability to provide proper protections and lifelong access/counseling to infants who have undergone these testing platforms.

What is currently being done to help address that challenge?

There have been many statewide initiatives that have successfully fought to have in-house genomic sequencing covered by Medicaid for these infants (i.e. CA-Baby Bear; Michigan-Baby Deer).  All states  need to have similar initiatives. The GEMINI study will also soon be releasing our own economic analyses that will provide real-world data that demonstrates the health care cost-savings of early testing, upon presentation in the hospital.

If money or resources weren’t a barrier, what would you recommend be done to address the issue, if the above solutions were insufficient?

I think the field will soon recognize the positive financial impact of in-hospital testing, and I am confident that it will become the norm rather than the exception. 

In terms of the protections of infants who have undergone this testing, so much must be done in the field regarding 1.) linking sequencing to the infant’s EMR, 2.) ability to reinterpret sequencing throughout the lifespan as our understanding of genetic variants improves, and 3.) counselling the child at age of assent that sequencing has been performed and they can choose to learn about their findings — inclusive of adult onset diseases, paternity or other findings that may have been deliberately withheld from them. 

We also need years’ worth of qualitative research with families that have been impacted by these tests, to not only understand impact on the family unit regarding a diagnosis, no diagnosis, or diagnosis later into childhood, with reanalysis based on emerging phenotypes, but also what the children thought of this testing as they entered adulthood.  We must be very cognizant of the fact that we are performing these tests without consent of the patient – we have a responsibility to acquire input from them regarding this approach and learn from it. Transparency is absolutely essential.

What advice do you have for somebody who’s up and coming, trying to break into this field and address these problems?

It is such an exciting time to be in this field and it offers so many opportunities!  While some investigators may be invested in advancing the molecular platforms, we also need our clinical trialists, ethicists, policy makers, and social scientists.  The genomic field must progress in parallel with multi-disciplinary experts to ensure that we are always putting the child/family first. Partner with each other. Do not be shy to reach out and share ideas. Do not be intimidated by ‘experts’.  We all need to work together.

Want to hear more from Jill? Come and hear her speak at The Festival of Genomics and Biodata!