During Its First Year, Newborn Whole Genome Sequencing Program Welcomed 22 Founding Members, Completed First Phase, Launched Next-Phase Screening for 31 Additional Genetic Disorders
Rady Children’s Institute for Genomic Medicine® (RCIGM) today announced the completion of the inaugural year of its BeginNGS™ program (pronounced Beginnings). In one year, the program concluded its phase-one screening, added 23 new founding members and increased the number of treatable, genetic diseases to the second-phase screening. Created by RCIGM and its founding partners, the program is designed to screen newborns for hundreds of known, treatable genetic diseases to give medical professionals the opportunity to identify treatment options before any symptoms arise.
In March 2023, phase two launched with the methodology to screen for an additional 31 disorders for a total of 419 treatable, genetic disorders. This second phase is focused on understanding the specificity and sensitivity of the BeginNGS test and has an enrollment rate of 37 percent.
“I’m proud of what we’ve accomplished in this first year of BeginNGS™ because genetic diseases are among the leading causes of severe illness and death in children. Hundreds of these genetic diseases have effective treatments, but families typically undergo years of medical testing before a diagnosis is reached and treatment is started. We want to right this wrong,” said Stephen Kingsmore, MD, DSc, President and CEO of Rady Children’s Institute for Genomic Medicine. “Finding a way for children to receive effective treatment – before they have any symptoms of disease – isn’t an easy problem to solve, and we’re extremely grateful for the support of each of the founding partners who are working with us towards this urgent goal.”
RCIGM is known for its pediatric Rapid Precision Medicine™ and providing rapid Whole Genome Sequencing™ for critically ill infants and children in the NICU (Neonatal Intensive Care Unit) and PICU (Pediatric Intensive Care Unit). After years of diagnosing critically ill infants and children and recognizing there was a higher genetic disease burden in this fragile population than previously understood, RCIGM leadership determined that genome sequencing should also be used to screen babies at birth to identify serious, rare genetic conditions that have effective treatments available.
The BeginNGS program is a pre-competitive, multi-stakeholder collaboration program with the goal of ending the rare disease diagnostic and therapeutic odyssey for babies and their families. Founding members include Alexion, BioMarin, COMBINEDBrain, Everylife Foundation, Global Genes, Horizon Therapeutics, Indiana Thrombosis and Hemophilia Center, Inozyme, Luna, Mahzi, National Hemophilia Foundation, Orchard Therapeutics, Rocket Pharma, Sanofi, Sarepta, Sentynl Therapeutics, Travere Therapeutics and Ultragenyx, with technology support provided by Illumina, Genomenon, TileDB and Fabric Genomics.
The participation of these leading organizations in genetics, biopharma, biotech, information technology and patient advocacy groups, allows BeginNGS™ to address the multifaceted issues surrounding rare disease diagnosis and treatments. All the partners are actively engaged in providing thought leadership and finding solutions to the challenges of establishing whole genome screening for infants and newborns as a standard medical practice. RCIGM continues to seek additional like-minded organizations who are interested in making whole genome sequencing screening a standard of care for newborns and infants. As the BeginNGS™ program advances into the next phases, it is actively recruiting thought leaders from numerous areas of the healthcare system to create a sustainable, equitable program.
“As part of our mission to transform the lives of those affected by rare disease, Alexion is committed to shortening the diagnostic odyssey to help patients get answers faster,” said Tom Defay, PhD, Alexion’s Deputy Head, Diagnostics Strategy and Development. “We are proud to be founding members of the RCIGM BeginNGS™ Consortium and look forward to our ongoing collaboration to help accelerate newborn screening by whole genome sequencing for treatable genetic diseases.”
BeginNGS™ is designed to provide WGS in addition to the existing and highly effective public health program of newborn screening, which identifies serious childhood diseases that have effective therapies. The existing standard screenings test for a range of between 31 and 76 conditions (which varies by state). The BeginNGS™ program will be able to offer infants and their families screening for hundreds of actionable genetic conditions that are known to be early onset, that primarily impact newborns and infants, and are not included in the standard biochemical newborn screening process.
Quotes from BeginNGS Partners (in alpha order):
Charlene Son Rigby
Chief Executive Officer
“Global Genes is committed to supporting and empowering rare disease patients, who often go for years without a diagnosis. BeginNGS™ has the potential to end diagnostic odysseys before they start, providing patients and families the ability to act early, with interventions including supportive therapies.”
Andrea Atherton, MS, GCC
“Improving the diagnostic odyssey for families impacted by rare diseases is critical to improving the outcomes and quality of life for newborn patients,” said Andrea Atherton, M.S., C.G.C., regional medical director, Horizon Therapeutics. “We support innovative solutions for the rare disease community that help increase awareness of and access to diagnostic information in order to significantly reduce the time to diagnosis.”
Dr. Amy Shapiro
CEO & Co-Founder
“The Indiana Hemophilia & Thrombosis Center (IHTC) is committed to providing the highest quality comprehensive services and holistic care to patients with bleeding, clotting and other hematologic disorders, and to their families. The work of BeginNGS™ aligns with our vision of a future where people with rare blood disorders flourish. The IHTC is proud to have helped identify more than 20 hematologic disorders included in the BeginNGS newborn screening panel. Many life-altering bleeding disorders are not detected until later in life and these disorders are not currently included in traditional newborn screening. BeginNGS innovative approach to detecting these disorders is a remarkable advancement, giving healthcare providers much faster, more accurate, and timely information about a patient’s condition. Enabling intervention at such an early stage in life is truly a positive, groundbreaking shift in healthcare that will give patients with rare bleeding disorders the best opportunity for an improved quality of life.”
Senior Vice President, Physician and Patient Engagement
“Inozyme is extremely proud to have been a founding member of the BeginNGS™ Consortium. We believe that the work of the consortium will make a meaningful difference in the care that babies born with rare genetic diseases receive and ultimately improve their long-term health and survival. We look forward to a day when all families with infants who have ENPP1 or ABCC6 Deficiency can get a rapid diagnosis and a potentially lifesaving therapy.”
President and Co-Founder of LunaPBC, Manager of LunaDNA
“Luna is proud to support BeginNGS™ in embracing data privacy along global standards to offer a path to more inclusive participation in health research as families, and as individuals once the children become adults themselves,” says Dawn Barry, President of Luna. “Communities of support are a key component of BeginNGS™, and we will enable them to adopt their own discovery initiatives as well.”
Leonard A. Valentino, MD
President and CEO
“The National Hemophilia Foundation (NHF) is incredibly proud to be part of the BeginNGS™ program to screen newborns for genetic blood diseases to ensure an accurate diagnosis and referral to one of the integrated care centers across the county to provide effective interventions before complications occur,” said Leonard A. Valentino, MD, president and CEO of the National Hemophilia Foundation.
Leslie Meltzer, PhD
Chief Medical Officer
“At Orchard Therapeutics, our vision is to end the devastation caused by severe genetic diseases through the curative potential of HSC gene therapy,” said Leslie Meltzer, PhD, Chief Medical Officer, Orchard Therapeutics. “As a founding scientific partner in the BeginNGS™ consortium, we’re proud of our collective work to continue broadening newborn screening initiatives that enable pre-symptomatic detection of rare and life-threatening inherited diseases, such as metachromatic leukodystrophy, to ensure the best clinical outcomes for patients and their families.”
Jonathan Schwartz, MD
Chief Gene Therapy Officer
“We are proud to be a founding member of BeginNGS™ and play a leading role in advocating for early diagnosis of patients with genetic diseases,” said Jonathan Schwartz, M.D., Chief Gene Therapy Officer, Rocket Pharma®. “On average, rare disease patients endure five to seven years of delay prior to an accurate diagnosis, often precluding the opportunity for beneficial early intervention. However, earlier and more comprehensive genetic testing and advanced screening tools can enable identification of genetic conditions prior to symptom onset or irreversible disease-mediated damage. By fostering collaboration with Rady Children’s Institute for Genomic Medicine and harnessing each organization’s unique expertise, we can advance the industry at large and its contribution to 21st Century personalized medicine, while furthering Rocket’s mission to seek gene therapy cures for patients with rare and devastating diseases.”
Alaa Hamed, MD, MPH, MBA
Global Head of Medical Affairs, Rare Disease Division
“Sanofi is proud to be a founding member of the BeginNGS™ Consortium, which will accelerate newborn screening for hundreds to potentially thousands of treatable genetic conditions and help identify treatment options for those affected,” said Alaa Hamed, MD, MPH, MBA, Global Head of Medical Affairs, Rare Diseases at Sanofi. “Through multi-disciplinary teamwork, cutting-edge science, and global collaboration, we hope to collectively once and for all end the diagnostic odyssey for rare diseases.”
Diane Berry, PhD
Executive Vice President and Chief Global Policy & Advocacy Officer
“We are proud to be a member of the RCIGM BeginNGS™ Consortium and excited about progress to accelerate newborn screening by whole genome sequencing,” said Diane Berry, PhD, Sarepta’s Executive Vice President and Chief Global Policy & Advocacy Officer. “The diagnostic journey for individuals living with rare neuromuscular disorders is long, unpredictable, and often challenging. In many, irreversible muscle degeneration occurs while waiting for genetic confirmation. Through collaborative efforts like this program, we hope to facilitate new ways for newborn screening to keep pace with genome and therapeutic innovation and eliminate diagnostic delays so that all people have the life-changing opportunity to benefit from newly emerging precision medicines.”
Senior Vice President, Head of Medical Affairs
“The BeginNGS™ initiative is close to our hearts at Sentynl, as we’re dedicated to bringing innovative therapies to patients living with rare disease,” said Jennifer Reese, Senior Vice President, Head of Medical Affairs of Sentynl Therapeutics. “By increasing the use and availability of rapid whole genome sequencing, patients can receive diagnosis and intervention faster. It is incredibly rewarding to join forces with Rady Children’s and BeginNGS™ members in this effort, and we look forward to deepening our impact on patients and caregivers in years to come.”
Steve Rodems, PhD
Vice President of Research and Nonclinical Development
“Screening newborns for genetic variants known to be associated with serious, treatable pediatric-onset disease through genome-based sequencing is game-changing for families affected by rare disease. We are committed to shortening the diagnostic odyssey for rare families, providing an opportunity for medical intervention that may change the course of a life from birth,” said Steve Rodems, PhD, Vice President of Research and Nonclinical Development, Travere Therapeutics.
Eric Crombez, M.D.
Chief Medical Officer, Executive Vice President
“At Ultragenyx, our mission is to transform the lives of people living with rare diseases. We believe newborn screening offers families the chance for a timely and accurate diagnosis and access to available therapies. We are proud to be one of the founding sponsors of the BeginNGS™ program and we’re inspired by the outcomes we’ve seen over the last year. We look forward to continued collaboration with leaders from across the BeginNGS consortium to help advance this innovative approach and eliminate the diagnostic odyssey for more people living with rare disease.”