Newborn Screening SPOTlight Podcast

In the United States, shortly after birth, every newborn receives a series of screening tests to identify treatable diseases. Every September we celebrate this amazing system of research, public health, and clinical care that saves the lives of babies every day with Newborn Screening Awareness month. Neonatal screening also occurs around the world and many countries are working on innovative approaches to use genomics to significantly expand, or improve, our ability to screen, diagnose, and treat hundreds if not thousands of additional diseases. We are excited to feature one of these innovators on the Newborn Screening Spotlight, Dr. David Bick who, is the Principal Clinician for the Newborn Genomes Programme at Genomics England. Genomics England is undertaking an effort to include genomics in neonatal screening.

Prior to his work in England, he was the Chief Medical Officer and a faculty investigator at the HudsonAlpha Institute for Biotechnology. He came to HudsonAlpha from the Medical College of Wisconsin where he was Professor in the Department of Pediatrics and the Department of Obstetrics & Gynecology at the Medical College of Wisconsin. At the Medical College of Wisconsin he was the Director of the Clinical Sequencing Laboratory, Director of the Advanced Genomics Laboratory at Children’s Hospital of Wisconsin, Medical Director of the Genetics Clinic at Children’s Hospital of Wisconsin, and Chief of the Division of Genetics in the Department of Pediatrics at Medical College of Wisconsin.

Dr. Bick received his medical degree from George Washington University School of Medicine in 1981 and completed his residency in Pediatrics at Yale-New Haven Hospital in New Haven, CT. At the Yale University School of Medicine, Dr. Bick completed a fellowship in Human Genetics and Pediatrics in 1986, followed by a post-doctoral research fellowship in Human Genetics in 1987. Dr. Bick is board certified in Pediatrics, Clinical Genetics, and Clinical Molecular Genetics.

He is a leader in the field of genomic medicine and has published numerous peer-reviewed articles, chapters, and reviews. Dr. Bick’s laboratories at the Medical College of Wisconsin and Children’s Hospital of Wisconsin were the first in the world to offer whole genome sequencing as a clinical test. He also developed the first Genomic Medicine Clinic in the United States. Join us as we learn about the role of genomic sequencing of newborns.

Podcast Interview Questions for Dr. David Bick

1. Bick, thank you for joining us for the newborn screening SPOTlight podcast, we would love for our listeners to get know you and the impact you’ve made on clinical genomic medicine, newborn screening research. You’re a pediatrician, researcher, and leader in genomic medicine. How did you get involve with newborn screening research?
2. You were a faculty in the Department of Pediatrics and the Department of Obstetrics & Gynecology at the Medical College of Wisconsin, where your laboratory was the first to offer whole genome sequencing as a clinical test. What advice can you share for others who are interested in proposing the implementation of genome sequencing in their hospitals?
3. You have now moved to the UK to be the Principal Clinician for the Newborn Genomes Programme at Genomics England. Can you tell our listeners more about this program?
4. From your experiences at the Screen4Care consortium and the European collaborative Innovative Medicines Initiative, what are lessons that we in the US can learn from?
5. In your recent publication titled “Newborn Screening by Genomic Sequencing: Opportunities and Challenges,” you describe the need for “standardization of data formats and analytical approaches within and even between health systems” to support newborn screening by genome sequencing. There are differences between the UK and US health care delivery system. How do you envision this process of standardization in the UK? How can the US with its various health care delivery systems and health insurance plans be able to adopt a similar approach?
6. Are you involved in training the next generation of pediatrician nd what do you tell them about newborn screening research?
7. What role could NBSTRN play to support international efforts in advancing rare disease research and screening for diseases for which early intervention may improve outcome?
8. 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

Advances in gene and cell therapies are enabling researchers, clinicians, families, and regulators to work together in incredible new ways to treat previously untreatable conditions.

Listen to Christina Mayer share her efforts to advance policies that help to realize a future where gene and cell therapies are available to all individuals for all diseases. Christina is currently the Senior Manager of Government Affairs at the American Society of Gene and Cell Therapy in Milwaukee, Wisconsin. She works with federal government agencies and decision-makers to impact key components of gene and cell therapies like NIH research funding, genetic testing and screening, payment policy and patient access to approved therapies. She also contributes to the Society’s work on other policy priorities, such as regulatory oversight and the responsible use of new genetic technologies. Christina has a Master of Public Administration from the University of Nebraska-Omaha.

Listen with us as we imagine a future where the availability and equitable use of gene and cell therapies helps to realize the promise of a healthy future for all.

Podcast Interview Questions with Christina Mayer:

1. You are currently the Senior Manager of Government Affairs at the American Society of Gene and Cell Therapy. Can you tell us about the mission of the American Society of Gene and Cell Therapy? What is your role there?

2. What an exciting and rewarding time to advocate for gene and cell therapies! ASGCT reminds us all that there are literally 1000s of clinical trials for novel therapies and over the next decade there will be about 30 approved therapies for genetic disease, not counting cancer. What can our listeners do to become more aware of these efforts and to become advocates for continued advancement and access to these life-saving and in many cases disease curing therapies?

3. In its 2020 – 2022 strategic plan, ASGCT identified access to genetic testing and screening as one of its core patient access priorities. What efforts have been made by ASGCT to advance access to genetic testing and screening in newborns? Can you describe ways that the current approach to newborn screening in the United States could be improved to enable the use of gene and cell therapies? What are ways that our listeners can get connected to your organization?

4. In Feb 2021, ASGCT provided a public comment to Advisory Committee on Heritable Diseases in Newborns and Children (ACHDNC) on the newborn screening process.In this letter, ASGCT stated its support of the Newborn Screening Saves Lives Act. Can you tell us listeners more about the history of this act? Why is it important that it get passed? What would happen if it doesn’t?

5. Also, in the letter, ASGCT offers three recommendations to the ACHDNC. They are: 1) Ensure the RUSP keeps pace with treatment approvals, 2) Collaborate with and rely upon the FDA, and 3) Ensure the process to advance a disorder through the ACHDNC is transparent, predictable,and timely. Would you mind sharing the evidence that supported each of recommendations? (Perhaps, discuss the problem and why this recommendation would solve that problem)

6. ASGCT has worked partner organizations to support other NBS and you are hosting a workgroup and symposium in May to discuss advancements in NBS. Thank you for inviting Dr. Brower and NBSTRN to present during the workshop. Please tell us more about these important events and how they can participate.

7. You and Dr. Brower serve on the planning committee for an effort by EveryLife Foundation to develop actionable policy solutions aimed at ensuring newborn screening continues to advance. This includes the research facilitated by NBSTRN and ASGCT, as well as the policies that you and your team champion. Can you describe why these types of efforts to build coalitions and collaborations across different stakeholder groups are so important?

8. You have a very interesting career path and your work inspires many of us to achieve meaningful change and work to advance discoveries that save and improve lives. Can you share with our listeners what sparked your interest in the revolution that is gene and cell therapy as well as newborn screening research?

9. What does NBS research mean to you?

Learn more about ASGCT annual meeting at https://annualmeeting.asgct.org

To learn more about newborn screening research data tools and resources, visit www.nbstrn.org

You’re listening to the voice of Dr. Kathy Swoboda, who is the Katherine B. Sims MD Endowed Chair in Neurogenetics and Director of the Neurogenetics Unit in the Center for Genomic Medicine at the Massachusetts General Hospital and Harvard Medical School. Her research and clinical activities are dedicated to the diagnosis and treatment of inherited motor disorders of childhood-onset, with a particular focus on genotype-phenotype studies documenting onset and timing of progressive denervation in infants with Spinal Muscular Atrophy, also known as SMA.

Dr. Swoboda collaborated closely with Cure SMA in helping to obtain critical data necessary to support the addition of SMA to the Newborn Screening Recommended Universal Screening Panel (RUSP), and with the American College of Medical Genetics and Genomics (ACMG) and Newborn Screening Translational Research Network also known as NBSTRN to build tools suitable for use for newborn screening follow-up for infants with SMA.

In this episode, Dr. Swoboda will describe the important research efforts that led to newborn screening for spinal muscular atrophy (SMA) and how different interventions are impacting the lives of newborns with SMA. Dr. Swoboda has played a significant role in getting SMA to be added to the recommended uniform screening panel (RUSP) and her journey from a clinician to a researcher is truly inspiring. So, listen on.

Interview Questions with Dr. Swoboda:

1. Could you tell us what is spinal muscular atrophy (also known as SMA)?
2. You and your research were involved in SMA being recommended to nationwide screening. Can you describe this experience?
3. How have the families you work with been impacted by the addition of SMA to nationwide newborn screening?
4. What is the importance of early identification and treatment by NBS. What are current interventions for individuals with the SMA?
5. Why is NBS research for SMA important?
6. How has NBSTRN helped your research in SMA?
7. What career advice could you give to someone interested in being a clinician-researcher like yourself?
8. What does NBS research mean to you?

To learn more about newborn screening research, visit www.nbstrn.org