Newborn Screening Pilot Studies

07/27/22 • 29 min

Today on the Newborn SPOTlight we welcome a national leader in newborn screening research and clinical care, Dr. William Wilcox.

Dr. Wilcox is the medical director of the Emory Lysosomal Storage Disease Center and Genetic Clinical Trials Center in Georgia. He was a medical graduate of the UCLA School of Medicine and completed his residency in Pediatrics at UCLA and a genetics fellowship in the UCLA Intercampus Medical Genetics Training Program. As a clinician, Dr. Wilcox also leads clinical trials to discover new treatments for both metabolic and skeletal diseases. Amazingly he has published more than 140 peer-reviewed articles and serves as a member of the Georgia Newborn Screening Advisory Committee.

Dr. Wilcox and his team at Emory have conducted groundbreaking efforts and screened over one million newborns to help to increase the number of conditions that are included in newborn screening in the United States. Join us as we hear from a leader in newborn screening research Dr. Wilcox and listen as he shares what newborn screening research means to him.

Interview Questions:

You are a pediatrician with a specialty in genetics and you have led many Your research has focused on the clinical description and molecular pathogenesis of conditions that are part of or candidates for newborn screening. How did you get involved with newborn screening research?
You’re currently the medical director of the Emory Lysosomal Storage Disease Center and Genetic Clinical Trials Center. You are the lead researcher, called the Principal Investigator or PI, for the NICHD funded pilot studies for several conditions. This effort that you and your team at Emory lead in Georgia makes up one of three states that conduct pilots. Can you tell us the goals of this NICHD program, explain where it fits as conditions move from candidates to nationwide screening?
As a clinician you care for newborns, children, and their families. What role do they play in newborn screening research and pilots?
Through the years parents and advocates have played key roles in advancing NBS research and practice. You have been on advisory committees, local, state, and national. Do you have any stories you’d like to share with our audience about your own advocacy and that of your patients and families?
Are you involved in training the next generation of pediatricians and what do you tell them about newborn screening research?
You have been a member of the NBSTRN since the beginning of 2008 as a member of the Steering Committee. Can you describe your experience with the NBSTRN over the past decade?
What other support and resources do you think could help facilitate the implementation of statewide pilot studies?
What does NBS research mean to you?

To learn more about the Georgia Newborn Screening Program, visit https://dph.georgia.gov/NBS

Become a member of NBSTRN by signing up for a free account at www.nbstrn.org

Today on the Newborn SPOTlight we welcome a national leader in newborn screening research and clinical care, Dr. William Wilcox.

Interview Questions:

You are a pediatrician with a specialty in genetics and you have led many Your research has focused on the clinical description and molecular pathogenesis of conditions that are part of or candidates for newborn screening. How did you get involved with newborn screening research?
You’re currently the medical director of the Emory Lysosomal Storage Disease Center and Genetic Clinical Trials Center. You are the lead researcher, called the Principal Investigator or PI, for the NICHD funded pilot studies for several conditions. This effort that you and your team at Emory lead in Georgia makes up one of three states that conduct pilots. Can you tell us the goals of this NICHD program, explain where it fits as conditions move from candidates to nationwide screening?
As a clinician you care for newborns, children, and their families. What role do they play in newborn screening research and pilots?
Through the years parents and advocates have played key roles in advancing NBS research and practice. You have been on advisory committees, local, state, and national. Do you have any stories you’d like to share with our audience about your own advocacy and that of your patients and families?
Are you involved in training the next generation of pediatricians and what do you tell them about newborn screening research?
You have been a member of the NBSTRN since the beginning of 2008 as a member of the Steering Committee. Can you describe your experience with the NBSTRN over the past decade?
What other support and resources do you think could help facilitate the implementation of statewide pilot studies?
What does NBS research mean to you?

To learn more about the Georgia Newborn Screening Program, visit https://dph.georgia.gov/NBS

Become a member of NBSTRN by signing up for a free account at www.nbstrn.org

Previous Episode

Congenital Cytomegalovirus (CMV)

Listen as Dr. Megan Pesch shares her journey to becoming a parent advocate and a researcher in Cytomegalovirus (also called CMV). Dr. Pesch is an Assistant Professor of Developmental and Behavioral Pediatrics at the University of Michigan where she is the Director of the Congenital CMV Developmental Follow-up Clinic. Dr. Pesch completed her medical school training, residency, and fellowship at the University of Michigan. She is board certified in Developmental and Behavioral Pediatrics and serves as the President-elect of the National CMV Foundation.

Dr. Pesch’s youngest daughter has a profound bilateral sensorineural hearing loss from congenital CMV and this led to her involvement in national advocacy efforts to ensure that all newborns receive CMV screening. Dr. Pesch’s clinical interests include the early diagnosis and treatment of congenital CMV using a multidisciplinary approach with a focus on family care and support, while her research focuses on healthcare provider practices around congenital CMV diagnosis and management and understanding the relationship between autism and CMV.

The month of June is CMV awareness month. Please visit the National CMV foundation to learn more about advocacy efforts in CMV in your area and how you can support NBS for CMV.

Learn more about Dr. Megan Pesch and her advocacy effort on newborn screening for CMV:

https://ihpi.umich.edu/our-experts/pesch

https://www.nationalcmv.org

Podcast Interview Question with Dr. Megan Pesch.

You are currently an Assistant Professor of Developmental and Behavioral Pediatrics and the Director of the Congenital CMV Developmental Follow-up Clinic at the University of Michigan. Can you tell our listeners more about CMV and how it impacts mothers, their babies and families? (perhaps, talk about the differences between prenatal CMV and neonatal congenital CMV)?
You are a clinician and a researcher, and lead efforts in the Pesch Lab at Michigan Medicine at the University of Michigan! One of your projects brings together a multidisciplinary group of health care providers to refer infants who fail their newborn hearing screen for congenital cytomegalovirus testing. Tell us more about this important project and explain how you got involved in newborn screening research?
Currently, there is no standard of care or routine screening for newborns for congenital cytomegalovirus at birth. What can parents do if they suspect their baby has CMV? (perhaps discuss the Alethia CMV Assay Test System)
What is hearing targeted early cytomegalovirus (HT-CMV) screening?
One of your current studies seeks to understand the possible connection between exposure to CMV during pregnancy and the later risk of autism. Can you tell us more about this effort? What are you hoping to learn? What is the biological pathway?
You are also the President-elect of the National CMV Foundation. What are some of the current activities or programs that people can get involved in your advocacy efforts? What are the recent advocacy efforts to support newborn screening for CMV? Is it currently being reviewed to be added to the RUSP?
Are you involved in training the next generation of pediatricians, and what do you tell them about newborn screening research?
You are busy as a clinician, researcher, advocate, and parent. Do you have any stories of inspiration that keep you going?
What does NBS research mean to you?

To learn how NBSTRN can help your research in newborn screening, visit www.nbstrn.org

Next Episode

The Ethical, Legal, and Social Implications (ELSI) of Newborn Screening Research

We are excited to welcome Dr. Jeffrey Brosco to the NBSTRN SPOTlight today. Dr. Brosco will share moving stories from his lifetime of experiences caring for children and families as a clinician who specializes in Developmental-Behavioral Pediatrics. Dr. Brosco has both an M.D. and a Ph.D. degrees from the University of Pennsylvania, and he serves as Florida’s Title V Director for Children and Youth with Special Health Care Needs. Dr. Brosco has written numerous articles on the ethical, legal, social implications of newborn screening and along with Diane Paul, he authored a book called The PKU Paradox: A Short History of a Genetic Disease. In 2019 Dr. Brosco was awarded the Maternal and Child Health Bureau Director’s Award for contributions to the health of infants, mothers, children, adolescents, and children with special health care needs across the United States. Listen along with us as Dr. Brosco discusses a wide range of topics including the use of genomics to help end the diagnostic odyssey for families.

Podcast Interview Questions for Dr. Jeff Brosco

You are a pediatrician with a specialty in Developmental-Behavioral Pediatrics and also currently the State of Florida’s Title V Director for Children and Youth with Special Health Care Needs.How did you get involved with newborn screening research? (Perhaps, you can give our listeners some background on Title V and your role as the director in your response).
You have written numerous articles on the ethical, legal, social implications of newborn screening. In one of your articles, you mentioned that whole and exome sequencing can add medical insights for families in the ‘diagnostic odyssey’ but in some case, families are still on the therapeutic odyssey. Here, you proposed a family-center approach to care in the genomic era. Could you elaborate to our listeners what this would be?
Research helps to advance newborn screening by increasing the number of conditions that may be a fit for early identification and intervention. Where do you think the next decade of research will take newborn screening?
In your recent publication, titled “Newborn Screening in Latin America: A Window on the Evolution of Health Policy,” you hypothesized that the history of NBS programs could be used to understand the development of health policy. Please share some of your takeaways from this effort and which comes first – NBS expansion or health policy – or are they intertwined? Are there unique game changers from a historical perspective that resulted in significant change?
Are you involved in training the next generation of developmental-behavioral pediatricians and what do you tell them about newborn screening research?
You played a key role in advancing the efforts of the NBSTRN for many years. What role does NBSTRN play? What role could NBSTRN play in your efforts to addressing the ethical, legal, social implications of NBS?
As you think about your career as a clinician, are there any patient or family stories that you’d like to share with our audience?
What does NBS research mean to you?

To become a member of NBSTRN, sign up a free membership account at www.nbstrn.org