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

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

11/23/22 • 50 min

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...

Interview Questions:

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...

Previous 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?

Next Episode

Family Engagement, Diversity, Equity, and Inclusion (DEI) Access in Newborn Screening Research

Family engagement and rare disease advocacy drive the innovations and accelerate the discoveries that advance newborn screening research. Today, we are excited to have Natasha Bonhomme, a health communications strategy and family engagement expert who has led ground-breaking initiatives to empower individuals, families, and their communities to transform health care. Natasha is currently the Chief Strategy Officer for Genetic Alliance and the founder of Expecting Health, a national effort to create outreach strategies and deliver educational programming to diverse communities, with a special emphasis on maternal and child health issues. A decade ago, Natasha and her team launched Baby’s First Test as the first National Newborn Screening Resource Center to provide education, family support and services information, and resources about newborn screening at the local, state, and national levels. Natasha received her BA in Psychology from Boston College and began her career as a summer intern at NIH. This year, 2022, her journey from intern to national expert was recognized as Natasha and received the Judi Tuerck Newborn Screening Follow-up and Education Award for her significant contributions. Listen along with us as she shares advice on engaging families and educating the next generation of advocates to help speed research to develop new technologies to screen, diagnose, treat, and manage the disease. Newborn screening saves lives, and leaders like Natasha help make it possible!

Interview Questions:

1. Congratulations on receiving the Judi Tuerck Newborn Screening Follow-up and Education Award at the APHL NBS Symposium. This award honors someone who has made significant and outstanding contributions in providing innovative newborn screening follow-up training/education for best practices. This year recipient is you, Natasha. You are the founder of Expecting Health and chief strategy officer, Genetic Alliance. Baby first test is a part of the Expecting Health, and it has been 10 years. For our audience, could you share the mission of Expecting Health and how they can learn more?

2. You have a new program called Parent Navigators. Can you tell us about this program and why it is important?

3. You are also the Chief Strategy Office of Genetic Alliance. Can you share with our audience your role and the mission of Genetic Alliance? How did you get involved with newborn screening research?

4. Your work involved engaging and empowering families in the decision-making process on maternal and child health issues. In the era of expanding newborn screening with additional conditions on the RUSP and the potential of using genomic sequencing, what are family perspectives towards genetics, and what are the challenges that researchers need to reconsider in conducting public health genetics and genomic research?

5. What advice do you have for researchers to engage families and advocacy organizations to amplify their voices and concerns in the design of their research study?

6. Newborn screening tests are conducted by the State Newborn Screening Program. Can you describe an example of large-scale education for newborn screening? Do you have tips on partnering with the state program?

7. UCSF recently published an article titled “Non-White Newborns With Cystic Fibrosis More Likely To Be Missed in Screening.” Your work has intersected the area of diversity, equity, and inclusion. What do you think we as an NBS Research Community need to do?

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

9. What does NBS research mean to you?