Tag Archive for: Beth Tarini

Beth Tarini

Honor bestowed on Beth A. Tarini, MD, MS, MBA

Beth Tarini

Dr. Tarini has extensively studied policies to optimize the delivery of genetic services for newborns and their families.

Children’s National Hospital named Beth A. Tarini, MD, MS, MBA, as the Richard and Agnes Hudson Endowed Chair in Health Services Research at Children’s National Hospital.

Dr. Tarini, a pediatrician, is the Co-Director of the Center for Translational Research in the Children’s National Research Institute, the hospital’s Director of Resident Research and a professor of pediatrics at George Washington University.

The big picture

Dr. Tarini joins a distinguished group of Children’s National physicians and scientists with an endowed chair. Children’s National is grateful to generous donors who have funded 51 professorships altogether.

Professorships support groundbreaking work on behalf of children and their families and foster new discoveries and innovations in pediatric medicine. These appointments carry prestige and honor that reflect the recipient’s achievements and the donor’s commitment to advancing and sustaining knowledge.

Why it matters

Dr. Tarini has extensively studied policies to optimize the delivery of genetic services for newborns and their families. She has obtained $10 million in federal and foundation funding. A national leader in her field, she has served as president of the Society for Pediatric Research and as an appointed member of the Advisory Committee on Heritable Disorders in Newborns and Children. In the latter role, she helped advise the Secretary of the U.S. Department of Health and Human Services on the most appropriate application of universal newborn screening tests, technologies, policies, guidelines and standards.

“It’s an honor to receive the Hudson Chair, which allows me to bridge research and real-world impact,” says Dr. Tarini. “With this support, I will continue working to translate scientific discovery into better genetic services and policy for all newborns and their families.”

The visionary investment from the estate of Richard and Agnes Hudson will ensure that Dr. Tarini and future chairholders can launch bold new initiatives to rapidly advance the field of health services research, elevate the hospital’s academic leadership and improve the health and well-being of children.

Kids sitting at desks in school

Radon in school: A hidden worry for eastern Pennsylvania students

Kids sitting at desks in school

Some students may be exposed to nearly twice the annual dose of natural background radiation, estimated by the U.S. Nuclear Regulatory Commission at 3.1 mSv (310 mrem).

A Children’s National Hospital researcher teamed up with a high school student from Bethlehem, Pa., to shed light on radon, a silent health risk that may be present in some schools.

They examined radon levels in five eastern Pennsylvania school districts. The neighborhoods surrounding all 37 public schools had average radon levels exceeding the federal action level, or 4.0 pCi/L. According to their findings, the same could be true of the school buildings.

In a new research letter published in JAMA Network Open, researchers found some students may be exposed to nearly twice the annual dose of natural background radiation, estimated by the U.S. Nuclear Regulatory Commission at 3.1 mSv (310 mrem).

An odorless and invisible gas, radon is the leading cause of lung cancer among nonsmokers and the second overall cause of lung cancer nationwide. Its greatest danger lies in prolonged exposure, a risk amplified in school settings where children and teachers spend extensive hours. The U.S. Environmental Protection Agency (EPA) estimates more than 70,000 classrooms have high short-term radon levels.

“This study highlights the urgent need for radon testing in schools,” said Beth Tarini, M.D., M.S., M.B.A., co-director of the Center for Translational Research at Children’s National and the manuscript’s senior author. “Unchecked exposure to radon in these settings could have significant short- and long-term health effects, particularly for children.”

The EPA has found that approximately 20% of schools nationwide have done some testing, and only . In the Washington, D.C., region, Dr. Tarini says testing is often done:

  • The District of Columbia requires public schools to test for radon and publicize the results. If the results are above the federal limit of >4pCi/L, the schools are required to mitigate the risk.
  • Maryland doesn’t require schools to test for radon, but some schools test. The state’s largest school district — Montgomery County Public Schools — has been testing for radon since the late 1980s and retests facilities every five years.
  • In Virginia, the commonwealth requires public schools to test for radon, make the results public and report the results to the state.

Brian Yang, the study’s first author, called for action in Pennsylvania and regions with known radon risks.

“This research underscores the need to test radon levels in schools and, if necessary, mitigate,” said Yang, a senior at Moravian Academy in Bethlehem, Pa. “Addressing this invisible and under-recognized threat should be a public health priority.”

For more details, read the full study — “Estimated Radon Exposure in Eastern Pennsylvania Schools” — in JAMA Network Open.

 

 

American Pediatric Society logo

Children’s National expands 2025 American Pediatric Society class with new inductees

American Pediatric Society logoChildren’s National Hospital has expanded its class of American Pediatric Society (APS) members with three new inductees for 2025. The newest APS members include Ioannis Koutroulis, MD, PhD, MBA, research director and emergency medicine physician, Beth Tarini, MD, MPH, MBA, co-director of the Center for Translational Research, and Pavan Zaveri, MD, MEd, emergency medicine physician.

Dr. Tarini will also receive the 2025 Norman J. Siegel New Member Outstanding Science Award for her considerable contributions to pediatric science during the APS Presidential Plenary at the Pediatric Academic Societies 2025 Meeting in Honolulu, Hawaii, April 24 – April 28.

“I am deeply honored to receive the Norman J. Siegel New Member Outstanding Science Award from the American Pediatric Society,” said Dr. Tarini. “This recognition is a testament to the steadfast encouragement and support I have received from my mentors, colleagues, and family throughout my journey. I consider the opportunity to conduct research that optimizes health services for children and their families a privilege and a joy.”

APS members are recognized child health leaders of extraordinary achievement who work together to shape the future of academic pediatrics. Current members nominate new members by recognizing individuals who have distinguished themselves as child health leaders, teachers, scholars, policymakers and clinicians.

“I am deeply honored to be selected as a member of the American Pediatric Society,” said Dr. Zaveri. “I look forward to the opportunity to engage with esteemed leaders in pediatrics across various disciplines as we work together to advance the society’s mission and contribute to the growth of pediatrics through research and mentorship.”

Benefits of APS membership include:

  • Recognition and acknowledgment as a leader in pediatrics: APS members include individuals who have distinguished themselves as academic leaders, teachers and researchers whose contributions to academic pediatrics have garnered national and international recognition.
  • A network of child health professionals: Membership in APS is dedicated to the advancement of child health through the promotion of pediatric research, recognition of achievement and cultivation of excellence through advocacy, scholarship, education and leadership development.
  • Advocacy for child health: In order to speak with one voice on behalf of child health, APS provides representation in Washington, D.C., through the Pediatric Policy Council which combines the advocacy efforts of the APS, the Society for Pediatric Research, the Association of Medical School Pediatric Department Chairs and the Academic Pediatric Association.

“I am grateful to accept this honor from the APS,” said Dr. Koutroulis. “As both a physician and a researcher, I look forward to collaborating with distinguished experts within this network to help advance the development of pediatric care.”

Monika K. Goyal, M.D., M.S.C.E., and Beth A. Tarini, M.D., M.S., M.B.A.

Drs. Goyal and Tarini to lead Center for Translational Research

Monika K. Goyal, M.D., M.S.C.E., and Beth A. Tarini, M.D., M.S., M.B.A.

As CTR co-directors, Drs. Goyal and Tarini will lead the hospital’s mission to advance translational science, clinical research and community health.

Children’s National Hospital has appointed two nationally regarded leaders in pediatric research – Monika K. Goyal, M.D., M.S.C.E., and Beth A. Tarini, M.D., M.S., M.B.A. – to head its Center for Translational Research (CTR), a hub of high-impact scientific investigation that touches nearly every pediatric specialty.

As CTR co-directors, Drs. Goyal and Tarini will lead the hospital’s mission to advance translational science, clinical research and community health. They will begin their new roles on July 1.

Moving the field forward

“It is truly an honor to lead the CTR at such a pivotal moment in pediatric health,” said Dr. Goyal, an emergency medicine specialist and health services researcher. “I look forward to helping Children’s National lead the science on advancing health equity for the patients, families and communities we serve, both locally and nationally.”

As the largest of the six centers within the Children’s National Research Institute, CTR is pivotal in finding groundbreaking ways to improve health across pediatric medicine. Using a “bench to bedside” approach, the CTR faculty strives to seamlessly translate science from the laboratory bench to the patient’s bedside, moving pediatric medicine forward as expeditiously as possible to bring advances into the community.

“CTR is uniquely positioned to solve the biggest healthcare issues facing our pediatric patients,” said Dr. Tarini, a pediatrician and national leader in newborn screening research and policy. “I look forward to leading our diverse faculty of physicians and researchers as they leverage their front-line experience and innovative research to improve child health.”

Why we’re excited

Dr. Tarini joined Children’s National in 2018 and is currently the associate director for CTR. She was recently promoted to tenured professor of Pediatrics at George Washington University and has extensively studied policies to optimize the delivery of genetic services to families of newborns. In January, Dr. Tarini was appointed to a National Academies of Sciences, Engineering and Medicine Committee to examine the current landscape of newborn screening systems, processes and research in the United States. Dr. Tarini has obtained $10 million in federal and foundation funding, and she has served as president of the Society for Pediatric Research.

Dr. Goyal joined Children’s National in 2012. She is the inaugural endowed chair for Women in Science and Health and has served as the associate division chief for Academic Affairs and Research within the Emergency Department since 2018. She was recently promoted to tenured professor of Pediatrics and Emergency Medicine at George Washington University. Dr. Goyal is a nationally renowned equity science scholar and has published over 130 peer-reviewed manuscripts. She has secured more than $25 million in federal and foundation funding to address disparities in adolescent sexual health, pain management and firearm violence.

Children’s National leads the way

Catherine Bollard, M.D., M.B.Ch.B., interim chief academic officer, said she looks forward to seeing the advances in pediatric health guided by these two outstanding researchers. “By harnessing the immense talent within Children’s National for our search, we found two exceptional leaders in Drs. Goyal and Tarini,” Dr. Bollard said. “Their work promoting research that accelerates discovery across the continuum of bench, bedside and community has already made a significant impact.”

newborn baby with bandaid on heel

JAMA Pediatrics editorial: A better approach for newborn screening

The medical community has an opportunity to update its approach to newborn screening (NBS) to be prepared for emerging technological advancements that will help diagnose children with rare diseases from their first weeks of life, according to an editorial from a leading Children’s National Hospital researcher published in JAMA Pediatrics.

“In health care, we are seeing ways in which we can identify more children who have rare diseases even earlier, in the newborn period, rather than waiting for children to develop symptoms or experience irreversible changes,” said Beth Tarini, M.D., M.S., M.B.A., associate director of the Center for Translational Research. “We have continued innovations in screening technology – with more on the way – that can be added to the screening programs overseen by all 50 states. Updating how we approach newborn screening presents an incredible opportunity for doctors and their patient-families.”

Why it matters

Newborn screening happens before the baby leaves the hospital, generally with a prick of the heel to take a small sample of blood to look for several dozen rare, debilitating disorders such as sickle cell disease, congenital hypothyroidism and cystic fibrosis. The current screening system has grown successfully for roughly 60 years and creates a network of state programs. Along the way, researchers have had extensive debates about which disorders to include, based on whether there are treatments and options for patients.

Dr. Tarini, a pediatrician who has done extensive research on NBS and related policies, said that the existing screening programs across all 50 states should be modernized, with federal research support and funding, to create a unified “learning newborn screening system” that derives information from the 4 million babies born each year and provides feedback to the medical community about best practices for babies who are diagnosed with a rare disease or at risk for developing one.

“A new approach will require resources and infrastructure, but as the technology advances, we should change our system to leverage the experience of doctors, patients, and NBS programs across the country,” Dr. Tarini said. “We have the will, the experience and the ability to transform the care for children with rare disease.”

Read the full editorial in JAMA Pediatrics.

baby getting heel prick

Researchers study murky findings in newborn screening panels with $3.7m NIH grant

baby getting heel prick

Children’s National received a grant to investigate the impact of newborn screening on families who receive an uncertain prognosis.

The National Institutes of Health (NIH) awarded Children’s National Hospital a $3.7 million grant to investigate the impact of newborn screening on the growing population of families who leave the testing with an uncertain prognosis.

Following the families longitudinally allows for a real-time view of the experiences of these children, sometimes referred to as “patients in waiting.”

Newborn screening is part of a universal, mandatory state health program that helps to identify inherited conditions that can affect a child’s health and survival. Millions of babies are screened annually for genetic, metabolic and endocrine disorders, using a few drops of blood from a prick to the heel; additional tests are done at the bedside such as hearing and heart screening. Sometimes, however, the results create medical odysseys and flag conditions that may never result in symptoms.

“For its first 50 years, newborn screening presented relatively consistent outcomes,” said principal investigator Beth Tarini, M.D., M.S., M.B.A., who serves as the associate director of the Center for Translational Research at Children’s National. “However, in the 21st century, new screening tests have created more ambiguous findings. As a result, we cannot accurately predict what type of symptoms a child may develop, when or if they will develop them, or how severe they will be. This is a lot to ask parents to deal with after the birth of a new child who appears otherwise healthy.”

Why it matters

The uncertainty can take a significant toll on parents by creating fear, anxiety and the medicalization of a child. However, to date, little long-term data exist to inform the care for these children. Ethically, that gap leaves clinicians unsure of how to weigh the benefit and harm of mandatory newborn screening programs. From a policy perspective, the drought of information leads to questions about how best to add disorders to newborn screening panels – an issue that will likely only grow as technology allows us to test for more conditions.

“We have a new group of children growing up and wondering when – or if – they will ever develop signs or symptoms of a disease,” Dr. Tarini said. “For some families, the information is an opportunity. For others, it becomes a burden. We owe it to these families to understand their experience and chart a sensible path forward to help them.”

What’s next

The four-year study will bring together researchers at Children’s National and Case Western University to analyze data and patient interviews from families in Virginia, Iowa and Oregon. The research team will include experts in newborn screening, genetics, health services, genetic counseling, psychology, bioethics and biostatistics.

Could whole-exome sequencing become a standard part of state newborn screening?

smiling baby boy

There are concerns about implementing whole-exome sequencing since it takes away the child’s right to decide if they want to know — or not — about their specific inherited disease.

It is still premature to standardize an innovative methodology known as whole-exome sequencing (WES) as part of state newborn screening programs, argues Beth A. Tarini, M.D., M.S., associate director for the Center of Translational Research at Children’s National Hospital, in a new editorial published in JAMA Pediatrics.

About 4 million infants are born annually in the United States. Newborn screening is a mandatory state-run public health program that screens infants for inherited diseases in the first days of life so they can receive treatment before irreversible damage occurs. Several of these screening tests are done on blood drawn from an infant’s heel.

WES holds the potential to screen infants for thousands of disorders and traits, including those that appear in adulthood. But there are concerns about implementing WES since it takes away the child’s right to decide if they want to know — or not — about their specific inherited disease. There is also the unknown effect that it could have on their ability to obtain health insurance.

“As caretakers for their children, parents have the challenge of deciding what kind of information, including genetic, will be valuable for their child,” says Dr. Tarini. “As a society, we have the responsibility of deciding where the healthcare dollars get the best return – especially when it comes to children. We need to start that conversation for universal genomic sequencing of newborns sooner rather than later.”

The Pereira et al. study, appearing in the new edition of JAMA Pediatrics and referenced in Dr. Tarini’s editorial, is the first to demonstrate no significant harm in the initial 10 months of life after performing WES under the best conditions of access to resources and a controlled environment.

While the Pereira et al. study has limited data on the effects of WES on families from underrepresented backgrounds, Dr. Tarini notes that it does provide a critical first step in this area of pediatric genomic research and for policy decision-making about the widespread implementation of WES in newborns.

“Moving forward, the U.S. will have to make a collective decision about the value of WES for newborns,” says Dr. Tarini. That value calculus cannot be made without consideration of the general state of healthcare for infants. As she points out, “This is not an easy question to answer in a country whose infant mortality ranks 34th according to the Organization for Economic Co-operation and Development (OECD).”

Dr. Tarini’s research identifies ways to optimize the delivery of genetic services to families and children, particularly newborn screening. She has also chaired state newborn screening committees and served on several federal newborn screening committees.

Newborn baby laying in crib

How a baby with classic galactosemia was nearly missed: When the test succeeds but system fails

Newborn baby laying in crib

Run at the state-level, mandatory newborn screening (NBS) programs detect a host of hereditary disorders so that infants can be treated before further damage, or even death, occurs.

Newborn screening (NBS) programs are critical to public health. Run at the state-level, mandatory NBS programs detect a host of hereditary disorders so that infants can be treated before further damage, or even death, occurs.

While much attention is paid to testing technology, programs must still meet basic minimum requirements to reliably identify and treat all affected individuals including minimum reporting requirements, case surveillance and a dedicated short-term follow-up program. In newborn screening, success is systematic.

A new report “How a baby with classic galactosemia was nearly missed: When the test succeeds but system fails,” published in the American Journal of Medical Genetics, takes a look at an individual case that almost slipped through the cracks of a local NBS program.

One disorder detected by NBS is classic galactosemia (CG), which arises from a deficiency in the galactose-1-phosphate uridyltransferase (GALT) enzyme, leaving infants unable to metabolize galactose-1-phosophate, a monosaccharide abundantly present in milk. CG can result in fatal liver failure, sepsis and coagulopathy if the affected infant is not switched to soy-based formula within the first week of life.

CG can be detected through a combination of enzyme assay, DNA analysis and galactose quantification. However, NBS programs differ in testing protocols for CG by state, and not all NBS programs conduct all of these tests. This is of particular relevance to the Washington, D.C., metropolitan area, a regional nexus where crossing state and district lines for medical care is common.

The report describes how a D.C.-born infant was screened for CG through all three tests. While his galactose levels were normal, his GALT was low and DNA testing revealed homozygosity for a CG mutation known as K285N. In tandem, the latter two indicators constitute a true positive result for CG, and necessitate the proper issuance of referrals, precautions and follow-up, which failed to occur in this case.

The infant breastfed and displayed notable lethargy, and parents were directed to a local emergency department in a neighboring state which does not screen for CG with DNA testing.

The providers there were unfamiliar with the DNA results, and after new labs came back normal, the NBS results were deemed as “likely falsely positive” for CG. Fortunately, a provider at the community hospital forwarded the NBS results to the Children’s National Rare Disease Institute (CNRDI). Upon review, CNRDI metabolic specialists immediately sought to rectify the situation by reaching out to the family with proper instructions and arranging a clinical evaluation, which occurred 10 days after birth.

While this case had a fortunate ending, the report highlights the potential deficiencies in NBS programs, which have historically been among America’s most successful public health initiatives. The proper and timely functioning of NBS systems is contingent upon the functioning of its constituent parts, including testing, diagnosis, follow-up, management and stakeholder education.

While test results were accurate in this case, systemic shortcomings left a patient in danger. As the authors state, “Programs must keep in mind that the true success of newborn screening extends beyond just the test itself…to improve safety and care outcomes we must focus on the system.”

A clinical report by a team of authors, mainly comprised of Children’s National clinicians, was published earlier this month in the American Journal of Medical Genetics. Authors include Sarah Viall, PPCNP, MSN, a pediatric nurse practitioner in the Rare Disease Institute; Nicholas Ah Mew, M.D., director of the Inherited Metabolic Disorders Program; and Beth A. Tarini, M.D., M.S., associate director of the Center for Translational Research.