About Dr. Wendy Chung and the GUARDIAN Study
Hello, I’m Dr. Liza Squires, a Medical Consultant at Sentynl Therapeutics, a U.S.-based biopharmaceutical company focused on rare disease.
Today, I’m here with Dr. Wendy Chung, a clinical and molecular geneticist and Chief of the Department of Pediatrics at Boston Children’s Hospital and Harvard Medical School. Today, we’ll discuss the importance of advancing newborn screening with whole genome sequencing, and how healthcare providers can advocate for this important advancement.
Dr. Chung, thank you for your time. Could you share a bit about your background and work in newborn screening and genetics?
Dr. Chung
Thanks Liza, it’s good to be here. For the past 35 years, I’ve dedicated my career to genetics and newborn screening.
I majored in biochemistry before working at the National Institutes, where I fell in love with science and taking care of people. At that time, methods were advancing to understand the genetic basis of biochemical and metabolic diseases that I was studying. So, I began using those tools in my work.
Today, I am the Principal Investigator of GUARDIAN, a research study conducted at NewYork-Presbyterian Hospitals. GUARDIAN screens newborns for more than 450 genetic conditions, most of which are not currently part of standard newborn screening.
The purpose of GUARDIAN is to find babies who have these conditions, so that they can have the best chance to live a healthier life. We’re particularly interested in diagnosing diseases that don’t have any other effective way to screen for them at birth.
Throughout my career in New York City, it’s been challenging to watch those who are and who are not diagnosed — and in some cases, even after a child passes. Children can’t advocate for themselves, so it’s our job as healthcare providers to advocate for them.
We designed the GUARDIAN study with equity in mind. It’s free and available to any baby born at the NewYork-Presbyterian Hospitals. That ensures that no children are left behind. Within 18 months, we’ve screened over 10,000 babies, and many more to come.
Understanding Whole-Genome Sequencing
Dr. Squires
All children deserve access to a prompt, accurate diagnosis and treatment of their condition, no matter how rare the disease. I want to discuss rare diseases and whole genome sequencing.
Actually, rare diseases aren’t so rare. In the U.S., around 25 to 30 million people live with the diagnosis of a rare disease. 70% of rare diseases may present in childhood, many cases go undiagnosed for a long time — 4 to 5 years on average. This may delay intervention and have an impact on outcomes.
For example, Menkes disease is a rare genetic condition that inhibits a person’s ability to absorb dietary copper. With no approved treatments, death typically occurs between 6 months and 3 years of age. However, early diagnosis can help families better understand the disease’s symptoms and prognosis.
This brings us to whole genome sequencing, or WGS, which can improve the speed and accuracy of the diagnosis of a rare disease. Could you briefly explain what whole genome sequencing is?
Dr. Chung
Sure. Whole genome sequencing analyzes the bulk of an individual’s genes. It can be used to find genetic variations that cause disease. I want to underscore that about 80% of known rare diseases are in fact genetic. Using whole genome sequencing for babies allows for early detection of genetic diseases, which can lead to earlier intervention and treatment.
By making WGS available to more babies, through studies like GUARDIAN, we are seeing gradual improvement in access. If the pilot studies can demonstrate its value, this will hopefully lead to widespread implementation.
WGS Challenges
Dr. Squires
From your experience, what challenges remain in the widespread use of whole genome sequencing and what can be done to overcome these challenges?
Dr. Chung
Good question. Logistically, cost is a barrier. In comparison, standard newborn screening through the Recommended Universal Screening Panel, or so called RUSP, is a public service that’s free for families.
Another barrier is concerned around the use and privacy of genetic data. In GUARDIAN, the data are held securely behind firewalls and are not available beyond the study scientists. We’ve had no data breaches in the study.
Support from the government by funding WGS research initiatives and education campaigns would help improve the evidence to assess if and how to use WGS for newborn screening, as well as improve public awareness and transparency.
Still, these current barriers impact the number of newborns who are screened. Currently, the secretary’s advisory board for newborn screening requires diagnosing at least 1 newborn in a pilot study in order to add that condition to the RUSP. That’s why in the GUARDIAN study, we aim to screen 100,000 babies to allow us to identify at least that 1 newborn for many different rare diseases.
Healthcare providers have a unique role to advance WGS use, because they can help change the public opinion of genetic testing. They can provide accurate education that addresses parents’ concerns and their questions. Even conversations like this one are a crucial starting point for healthcare providers to feel confident in discussing WGS with parents and caregivers.
Achieving a High Parental Consent Rate in GUARDIAN
Dr. Squires
It impresses me that the GUARDIAN study has a parental consent rate of 72%, which is higher than similar studies. How have you been able to achieve such a high consent rate?
Dr. Chung
The parents in our community designed the GUARDIAN study. Because of that, our study staff understands the families, listens to them, and helps us improve the study to meet their needs. Because of this shared trust, parents feel that GUARDIAN is beneficial to their child and their family.
For example, we have been able to identify newborns with immunodeficiencies and get them the treatment they need to prevent life-threatening infections. We have identified newborns with life-threatening heart conditions that can cause SIDS, or sudden infant death syndrome. But, these parents and care teams are now taking necessary steps to protect the newborn’s heart and prevent those conditions.
Rapid Whole-Genome Sequencing (rWGS)
Dr. Squires
I would also like to discuss rapid whole genome sequencing, or rWGS. Some genetic diseases present acutely, such as MoCD Type A, a rare genetic disease that presents in the neonatal period and progresses rapidly. Reaching an accurate diagnosis quickly is critical for patient outcomes. Could you explain how rWGS differs, and what value it brings to rare disease diagnosis and treatment?
Dr. Chung
Rapid genome sequencing can be used for children who are symptomatic. Rapid genome sequencing applies to the same whole-genome sequencing technology, but we get results much faster — within a few days compared to several weeks. This ensures that the child gets any available treatment as quickly as possible.
In these cases, we also compare the child’s genes to their parents to see which genes may be new in the child, or “de-novo,” and therefore might be the cause of the symptoms.
A rapid diagnosis can be helpful to identify treatable causes of conditions like seizures or liver failure when a child is in the intensive care unit. Sometimes there are effective treatment options, like a ketogenic diet for seizures caused by GLUT1 deficiency syndrome, that are not considered unless the diagnosis is made early.
Guidance for Healthcare Professionals
Dr. Squires
Returning back to what HCPs, especially those in neonatology, pediatrics, and family medicine, can take away from this conversation. What should they do to be advocates for the expansion and success of whole genome sequencing?
Dr. Chung
First, I recommend that physicians educate their patients on the importance of whole genome sequencing. It’s a powerful, single genetic test that can make most genetic diagnoses across thousands of genetic conditions with a few drops of blood.
Then, I suggest working to demystify genome sequencing. Listen to and address their concerns. Stress that information will be remaining private.
Most importantly, healthcare providers need to foster an open and trusting environment when having these conversations, so families have the space to share their concerns and their questions.
To connect these points together, we want parents to be fully informed of whole genome sequencing, so they can feel empowered to make good choices about testing.
Where to Learn More
Dr. Squires
Dr. Chung, this conversation has been so important. How can listeners and readers keep in touch with your work as well as your other efforts in academia and clinical practice?
Dr. Chung
To stay up to date with GUARDIAN, you can visit guardian-study.org. And to learn more about my work and other efforts, you can follow Wendy Chung and Boston Children’s Hospital on LinkedIn for insights and professional updates.
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Publish date : 2024-11-11 16:00:00
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