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

10/27/22 • 60 min

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?

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?

Previous Episode

Genomics England: The Role of Genomic Sequencing of Newborns

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?

Next Episode

Genetic Counseling & Diversity, Equity and Inclusion (DEI) Justice in Newborn Screening Research and Workforce

Welcome to the Newborn Screening Spotlight! Today’s episode highlights the important role genetic counselors play in the diagnosis, care, and lifelong management of newborns diagnosed with a disease through newborn screening. Genetic counseling helps families better understand available treatments and resources, and our guest, Sylvia Mann is a genetic counselor who wears many hats, three to be exact, in her roles as the Supervisor of the Genomics Section of the State of Hawaii Department of Health, the Co-Director of the University of Hawaii Pacific Basin Telehealth Resource Center, and the Project Director of the Western States Regional Genetics Network. Sylvia’s career in genetic counseling began when she received her Master of Science in Human Genetics and Genetic Counseling from Sarah Lawrence College in New York, and, this year in 2022, her over 30 years of efforts to expand and improve NBS in one or more states were recognized with the George Cunningham Visionary Award in Newborn Screening. During today’s podcast Sylvia shares the ways visionaries like Dr. Cunningham played in her journey to train and inspire current and future genetic counselors. She also shares the exciting news that she will be developing a new program to train genetic counselors using an innovative model at Creighton University beginning in 2023. Sylvia’s decades of empowering parents, families, patients, and advocates from diverse backgrounds, she lives in Hawaii after all, has resulted in professional with a rare combination of genetic expertise, sincere empathy, and a tireless work ethic that has resulted in important conversations and discussion of diversity, equity, inclusion, and justice taking place.

Interview Questions:

1. Congratulations on your recent award of George Cunningham Visionary Award in Newborn Screening at the APHL NBS Symposium. It is given to someone who has made the greatest contribution to expanding or improving the screening of newborns by public health agencies in one or more states. This year’s award recipient is you, Sylvia. In the early 1960s, many states mandated NBS within their health departments and/or state laboratories to provide coordination and oversight for NBS. Can you share with our listeners about the newborn screening system in the state of Hawaii and any specific similarities and differences on the screening system different between states?

2. In one of our podcast episodes titled “Getting on the List” which was led by our co-host Dr. Brower, we highlighted the nomination process of getting a condition added to the RUSP. However, once the condition is on the RUSP, the process of implementation of the new condition is a bit complex and seems to differ between state to state. After a new condition is added to RUSP, can you help demystify the process to our listeners - what are the next steps in state-wide implementation of screening for that new condition in general and in the state of Hawaii? (Perhaps, Sylvia you can discuss and reference your public/private partnership paper here)

3. You are currently the Supervisor of the Genomics Section of the State of Hawaii Department of Health, the Co-Director of the University of Hawaii Pacific Basin Telehealth Resource Center, and Project Director of the Western States Regional Genetics Network. Can you share with our audience how you are involved with newborn screening in these different positions?

4. November is a special month, beside the time for Thanksgivings. November is the month of Family History Awareness as well as Genetic Counseling Awareness. You are one of the very few genetic counselors working in a state public health agency. Can you tell our listeners how you got interested in a career as a genetic counselor and how does genetic counseling play a role across the lifespan especially in public health?

5. According to the 2022 professional status survey by the National Society of Genetic Counselors, 90 percent of genetic counselors in the United States are white, and the percentages of genetic counselors identifying as Black or Hispanic/Latino/Latinx1 are not proportionally representative of the general U.S. population. Why do you think there is a lack of workforce diversity?

6. In your publication, creation of the Minority Genetic Professionals Network to increase diversity in the genetics work force, you described that the Health Resources and Services Administration funded Western States Regional Genetics Network to create a Minority Genetic Professionals Network (MGPN) to recruit and mentor high school and undergraduate students to enter genetic professions such as genetic counseling. How can our listeners learn more about this network and get involve?

7. Are you involved in training the next generation of genetic counselors, and what do you tell them about newborn screening research?

8. Do you have any stories of inspiration that keep you going? perhaps...