Newborn Screening SPOTlight Podcast

Join us on the Newborn Screening SPOTlight podcast with Dr. Jerry Vockley, who is a Professor of Human Genetics, the Graduate School of Public Health, Cleveland Family Endowed Pediatric Research, School of Medicine, Chief of Genetic and Genomic Medicine, UPMC Children’s Hospital of Pittsburgh, and Director of the Center for Rare Disease Therapy, UPMC Children’s Hospital of Pittsburgh.

Dr. Vockley is internationally recognized as a leader in the field of inborn errors of metabolism. His current research focuses on mitochondrial energy metabolism, novel therapies for disorders of fatty acid oxidation and amino acid metabolism, and population genetics of the Plain communities in the United States. He has published over 320 peer-reviewed scholarly articles and is the principal or Co-investigator on multiple NIH grants. Dr. has an active clinical research program and participates in and consults on multiple gene therapy trials.

Dr. Vockley has served on numerous national and international scientific boards including the Advisory Committee (to the Secretary of Health and Human Services) on Heritable Disorders in Newborns and Children where he was chair of the technology committee. He is a Fellow in the American Association for the Advancement of Science. He is a Founding Fellow of the American College of Medical Genetics and Genomics, and currently serves on its board of directors. He is founder and chair of the International Network on Fatty Acid Oxidation Research and Therapy (INFORM). He has served as chair of the Pennsylvania State Newborn Screening Advisory Committee and is a past president of the International Organizing Committee for the International Congress on Inborn Errors of Metabolism and the Society for the Inherited Metabolic Disorders (SIMD).

On this podcast, Dr. Vockley shares his career journey and personal stories about the impact of newborn screening research on physicians, families, and advocates.

Interview Questions:

1. Among your many appointments, you serve on the Board of the American College of Medical Genetics and Genomics (ACMG) and advise on efforts to improve health through the practice of medical genetics and genomics. In addition to the ACMG board, you were integral in the early and current days of the NBSTRN. Can you tell us how you got involved in NBSTRN?
2. As technologies to screen, diagnose, treat, and manage disease advance and increasingly use sequencing, can you share with our listeners your vision of how sequencing will be used in newborn screening in the future? What excites you about this potential, and can you share any concerns?
3. You have published over 320 peer-reviewed scholarly articles and led many efforts funded by NIH and others. Can you describe the key findings from your most recent publication, “Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder.”
4. You are the Cleveland Family Endowed Pediatric Research, School of Medicine Professor of Human Genetics, Graduate School of Public Health, and the Director of the Center for Rare Disease Therapy, UPMC Children’s Hospital of Pittsburgh. In your article titled “Scaling genetic resources: New paradigms for diagnosis and treatment of rare genetic disease,” you mentioned that the movement from the basic science laboratory to clinical trials is still hampered by a regulatory system rooted in traditional trial design and requires a fresh assessment of safe ways to obtain approval for new drugs. You proposed the development and scaling of nucleic acid-based therapies. Could you share this possibility with our listeners and what challenges need to be overcome to deliver them safely with appropriate evaluation and long-term follow-up?
5. Can you share any stories of inspiration that keep you going?
6. Anything else you’d like to share?
7. Thank you for your efforts in conceptualizing the NBSTRN and establishing a network of stakeholders that includes health professionals, researchers, state programs and families, and advocates. Do you have advice for this community and how they can help to realize and capitalize on the fifteen years of NBSTRN?
8. You are involved in training the new generation of medical geneticists. What do you tell them about newborn screening research?
9. What does NBS research mean to you?

This episode features Brittany Holmes who is a nurse practitioner in the Metabolism Program in the Genetics & Genomics division at Boston Children’s Hospital. She is an experienced provider who specializes in caring for patients with inborn errors of metabolism. She serves on the Board of Directors for the National PKU Alliance, the Newborn Screening Translational Research Network (NBSTRN) Steering Committee, and the Rare Disease Clinical Research Network (RDCRN) PHEEFREE Consortium External Advisory Board.

She received her Bachelor of Science at Merrimack College, and Master of Science in Nursing from Simmons University in Boston, and is beginning the Doctor of Nursing Practice program at UMass Boston this September. In addition to expanding expertise in the clinical care and research for those with a variety of inborn errors of metabolism, she also has a particular interest in Phenylketonuria (PKU) and newborn screening. Her interest in working with inborn errors of metabolism began at a young age, due to her personal experience as a patient with PKU. After years of speaking at conferences from the patient perspective and receiving care from leading clinicians/researchers in metabolism from the patient side, this ultimately led to seeking a career as a healthcare professional in the specialty. She enjoys being able to offer both the provider and patient perspective, and has a passion for caring for patients in this specialty.

Interview Questions:

1. Could you tell our listeners how you got involved in newborn screening?
2. May is the PKU awareness month. What is the purpose of this rare disease awareness campaign. How can our listeners get involved this month?
3. In the year 2023, it is the 60th anniversary of the newborn screening, and PKU was the first condition to be screened in newborns in 1951. A PKU screening test is a blood test given to newborns one to three days after birth. If babies are identified with PKU, they can benefit from early treatment. However, in the year 2013, there was a study that indicated that there is individual patient, social, and economic factors prevent some adult PKU patients in the US from accessing treatment. Ten years later, do you see any changes?
4. There is a policy in development or in place to address this such as The Medical Nutrition Equity Act (MNEA). Can you tell us listener about this policy?
5. In addition to medical nutrition therapy for PKU patients, what are other new types of treatment and gene therapy for PKU patients? Could you share the latest research effort and clinical trial in this area?
6. You are on the Rare Disease Clinical Research Network (RDCRN) PHEEFREE Consortium External Advisory Board. What is the mission and activities of this network? What resources are available to patients and families with rare disease?
7. Could you share your process for proving medical care to patients with PKU? As an adult with PKU, any advice for new parents who just received a newborn screening positive result for PKU?
8. What do you think prospective parents should know about newborn screening research in screening, diagnosis, and treatment for PKU?
9. You are currently on the Steering Committee at NBSTRN, what efforts do you see NBSTRN can support in NBS Research and your efforts?
10. What does NBS research mean to you?

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

1. 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).
2. 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?
3. 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?
4. 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?
5. Are you involved in training the next generation of developmental-behavioral pediatricians and what do you tell them about newborn screening research?
6. 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?
7. 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?
8. What does NBS research mean to you?

To become a member of NBSTRN, sign up a free membership 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.

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:

1. 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?
2. 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?
3. As a clinician you care for newborns, children, and their families. What role do they play in newborn screening research and pilots?
4. 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?
5. Are you involved in training the next generation of pediatricians and what do you tell them about newborn screening research?
6. 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?
7. What other support and resources do you think could help facilitate the implementation of statewide pilot studies?
8. 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

You're listening to the voice of Dr. Jennifer Taylor, a Genomic Scientist at the American College of Medical Genetics and Genomics (ACMG), who is working on several projects at the Newborn Screening Translational Research Network. In this episode, Dr. Taylor explores the newborn screening system from discovery to diagnosis. She will highlight how research and in particular, the discovery of new technologies to screen, diagnose and treat all begin with a newborns in the first days following birth – whether it is a physiological test performed in the newborn nursery or a blood sample, collected and saved as small drops of blood on filter paper.