Genomics England: The Role of Genomic Sequencing of Newborns

09/27/22 • 47 min

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

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?
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?
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?
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?
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?
Are you involved in training the next generation of pediatrician nd what do you tell them about newborn screening research?
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?
What does NBS research mean to you?

Podcast Interview Questions for Dr. David Bick

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?
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?
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?
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?
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?
Are you involved in training the next generation of pediatrician nd what do you tell them about newborn screening research?
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?
What does NBS research mean to you?

Previous 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?

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Next Episode

Research and Advocacy for Newborn Screening for Mucopolysaccharidosis II (MPS II/Hunter Syndrome)

Today, we are joined by Dr. Zhanzhi Hu (aka Mike) who is the co-founder and President of Project GUARDIAN, a nonprofit organization with the mission of advancing genomics-based newborn screening where they have a mission of genome sequencing 100,000 babies in New York City. His dedication and motivation to ensuring all babies have the best chance to live a healthy life stem from his own experience as a parent of two children with a rare disorder called MPS II and also known as Hunter Syndrome. He is an ardent advocate for newborn screening and works tirelessly to bridge the gap between advanced technologies and the critical need for the expansion of the newborn screening public health program. Mike is also an Adjunct Associate Researcher at Columbia University where he conducts newborn screening-related research. Dr. Hu received his Ph.D. degree in Molecular Genetics and Microbiology from the University of Texas at Austin and his B.S. degree in Cell Biology and Genetics from Peking University. He is currently on the Steering Committee and chair of the researcher needs workgroup at NBSTRN. He will share his perspectives as a researcher, parent, and advocate for NBS research as well as his efforts collectively with other key stakeholders in the research, clinical, and advocacy realm in helping to get MPS II added to the RUSP. Be inspired by his story of determination, perseverance, and purpose in advancing NBS research.

Interview Questions with Dr. Hu:

Hu, you are the co-founder and President of Project GUARDIAN, a new nonprofit organization with the mission of advancing genomics-based newborn screening. This is a joint effort between academia and industry. Can you tell our audience how this initiative came to be?
Sequencing 100,000 newborns in NYC is a significant goal, and other institutions are undertaking similar activities such as Genomics England where Dr. David Bick (who was featured on our podcast) will be leading. What efforts are being undertaken to share information and strategies on best practices for disseminating sequencing information to families, clinicians, and researchers?
Hu, you are a parent of two children with a rare disorder called Mucopolysaccharidosis II (MPS II or Hunter syndrome). Your first child was diagnosed with the condition around the age of 3.5 years old. Can you tell us how you found out about the diagnosis and what happened next?
At the age of 12 months, your second child was diagnosed before the disease was evident due to his older sibling’s findings. Can you share the clinical outcomes and any differences in the two siblings?
Could you share your process in caregiving to your child with Hunter Syndrome? Any advice for new parents?
Before your child was diagnosed with Hunter Syndrome, were you aware of NBS?
NBS for Hunter syndrome is now added to the recommended uniform screening panel (also known as RUSP) and you were a part of these efforts. Can you describe this journey of adding a condition to the RUSP? Do you have any advice for other families on the nomination process?
What do you think prospective parents should know about newborn screening research?
You are currently on the Steering Committee and the Chair of the Researcher Needs Workgroup at NBSTRN; what efforts do you see NBSTRN can support in NBS Research and your efforts in the GUARDIAN project?
What does NBS research mean to you?