Rare Disease Report Podcast: Newborn Screening Awareness and Novel Diagnostic Tool

Podcast

Catherine Nester, RN, and Dr. Stephen Kingsmore, discuss the pivotal role of newborn screening in diagnosing rare diseases along with the impact that BeginNGS can have on the future of rare disease medicine.

Newborn screening is a crucial aspect of diagnosing and subsequently treating rare disease, because genetic components are prevalent in many rare conditions. While the technology of newborn screening has made notable advancements, many parents and individuals aren't aware of the presence of a rare disease until symptoms appear, or even until they've encountered multiple or delayed diagnoses, which is sometimes referred to as the "diagnostic odyssey".

"Some babies never get out of the ICU and pass away without ever getting the diagnosis," Catherine Nester, RN, Vice President, Physician and Patient Strategies at Inozyme Pharma said in an interview. "So, for families to be able to shorten that period of not knowing, is important. For some diseases, it's not only that you want to connect them to the right treatment, you also want to make sure you're not giving them something that's actually going to do harm, because you don't know what the diagnosis is."

With approximately 4 million babies born in the US each year, 98% are tested within the first week of life. Despite the progress that's been made on the diseases included in traditional screening protocols, there's still a gap—that averages about 7 years to a diagnosis—which needs to be met, according to Stephen Kingsmore, MD, DSc, President and CEO, at Rady Children's Institute for Genomic Medicine.

In this episode, Kingsmore and Nester join HCPLive to discuss the novel diagnostic and precision medicine guidance tool called BeginNGS. The aim isn't for the new tool to replace the current practice of testing by mass spectrometry for biochemical anomalies, but to greatly expand the amount of conditions included in the screening.

"What we're going to do is to approach moms and dads during pregnancy, through obstetric clinics, and ask for permission to screen more broadly than the 35, or so, conditions that are genetic that are on the current newborn screen," Kingsmore explained. "Initially, it'll be 450 conditions. And over the next several years, it will probably grow to be closer to 1000 conditions."

Specifically, the precision medicine and diagnostic approach of BeginNGS will focus on screening for childhood genetic conditions that currently have effective therapies. Many of these conditions show improved outcomes with immediate diagnosis and treatment, and according to Kingsmore, the goal is to close that gap of time, therefore, improving outcomes.

"For certain conditions, we'll directly admit them to the hospital, because we know they'll imminently get ill, and they must immediately get on life saving therapy," he said.

Other patients who receive a positive screening that may be less severe will still be brought to the proper specialist for care so the physician and family can proceed with the appropriate treatment plan.

"It's very similar to traditional newborn screening, but it's on steroids," Kingsmore continued. "It's 12 times as many conditions—so, 12 times as many lives saved, organs saved, heartbreak avoided."

BeginNGS uses Genome-to-Treatment (GTRx), a tool that provides immediate treatment guidelines to help physicians understand genetic conditions and their available treatment options. This summer, Inozyme Pharma announced the partnership with Rady Children's Institute for Genomic Medicine (RCIGM), along with multiple leading genomics, biotechnology companies and patient advocacy groups to advance and evaluate a novel newborn screening technology to facilitate diagnosis of genetic diseases.

The process of adding a new condition to the screening protocol can take 5-6 years per condition, making it arduous and costly. In a statement from Inozyme Pharma, whole genome sequencing (WGS) was acknowledged as an effective approach that's increased the speed and performance of this process in the last decade.

If you'd like to learn more about genetic testing or are interested in contributing to the cause, you can start here:

Related Videos
Addressing HS Risks at the Genetic Level, with Kai Li, BSc
Maternal Hidradenitits Suppurativa Linked to Neonatal Mortality, Pediatric Hospitalization Risk
How Gene and Cell Therapy Is Developing in Dermatology
Joyce Teng, MD, PhD, discusses how therapeutic advances in fields like epidermolysis bullosa should progress treatment discourse in other rare dermatoses.
The Prospect of Pz-cel in RDEB Treatment, with Peter Marinkovich, MD
Comparing New Therapies for Dystrophic Epidermolysis Bullosa
Reviewing 2023 with FDA Commissioner Robert M. Califf, MD
© 2024 MJH Life Sciences

All rights reserved.