Study shows diagnostic test effective for providing conclusive genetic results see more
GREENWOOD, SC – The Greenwood Genetic Center (GGC), working with collaborators at Lawson Health Research Institute in Canada and the University of Amsterdam, published a study this month that provides clinical validation of EpiSign, a molecular genomics test that diagnoses rare, heritable neurodevelopmental conditions. GGC has been the sole US laboratory provider of this novel diagnostic test since 2019.
EpiSign analyzes changes that affect gene expression rather than the gene sequence. Researchers have found that certain genetic disorders display unique genomic patterns, or epigenetic signatures, allowing for a diagnosis through EpiSign when traditional genetic testing has been uninformative.
The laboratory testing in the US is performed at GGC while the analysis of the results is performed using machine learning at Lawson where the EpiSign Knowledge Database was developed. This database compiles information on rare genetic diseases using laboratory analyses of the epigenetic signature from patients with suspected genetic abnormalities.
The current study analyzed data from early EpiSign testing to validate the ability of the novel test to make a diagnosis. Epigenetic signatures have been identified for over 40 genetic disorders.
The analysis studied EpiSign test performance and diagnostic yield in 207 subjects from two different cohorts. A targeted group included patients with previous genetic findings that were ambiguous or inconclusive. The second screening group was those with clinical findings consistent with hereditary neurodevelopment syndromes but with no previous genetic findings.
“Of the 207 subjects tested, 57 were positive for a diagnostic episignature including 48 in the targeted cohort, and 9 in the screening cohort. Only four remained inconclusive after EpiSign analysis,” says Dr. Bekim Sadikovic, lead researcher at Lawson and Scientific and Clinical Director of the Verspeeten Clinical Genome Centre at London Health Sciences Centre (LHSC). “This gives us strong evidence for the clinical use of EpiSign, as well as the ability to provide conclusive findings in the majority of subjects tested.”
While currently there are limited treatment options associated with many of these conditions, providing a diagnosis can help physicians better predict the course of the disease, and allows for better planning and support for the patient. EpiSign is the only test in the world that has been clinically validated for epigenetic testing for these types of genetic disorders, and in the US, is only available through GGC.
“Patients with rare diseases often wait years and undergo numerous exams and tests before receiving a correct diagnosis, if one is found at all,” says Matthew Tedder, PhD, staff scientist at the Greenwood Genetic Center, who was involved in the study. “EpiSign provides an additional high-yield diagnostic tool for clinicians to include in their evaluation of patients with undiagnosed diseases, providing better medical management for patients and hope for their families.”
The study, “Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders", is published in February’s Genetics in Medicine.
For more information about EpiSign, visit, www.ggc.org/EpiSign.
Bill Tiller joins Greenwood Genetic Center Foundation see more
The Greenwood Genetic Center (GGC) has named William ‘Bill’ Tiller as the new Executive Director of the GGC Foundation.
Tiller comes to GGC with a long and successful career in fundraising and development, working primarily in the areas of children’s health and advocacy. He has secured and directed approximately $43 million to support numerous nonprofit organizations including The Meyer Center for Special Children, Make-A-Wish Foundation of SC, and most recently served as President and CEO of the Pediatric Brain Tumor Foundation.
"We are thrilled to have someone with Bill's experience and passion for serving families who are affected by birth defects, disabilities, and autism," said Boo Ramage, outgoing Interim Executive Director of the GGC Foundation. Ramage stepped in to temporarily lead the 501(c)3 fundraising arm of GGC last July, successfully steering the final phase of the $1.56 million ‘Journey of Discovery’ campaign that supported several innovative technologies in research and diagnostic testing.
“GGC has been so fortunate to have strong philanthropic support throughout our history,” said Steve Skinner, MD, Director of GGC. “Bill brings valuable expertise as we expand our reach and advance our mission to serve families with compassion and expertise.”
“I feel a deep sense of calling to the mission of GGC, and I pledge to move the mission forward with purpose and joy," said Tiller. "I look forward to working alongside GGC’s distinguished professionals, in partnership with donors and investors, and in service to the many children and families who look to GGC for comfort and care."
To learn more about Tiller and the GGC Foundation, visit www.GGC.org/foundation.
Major grant awarded to Greenwood Genetic Center see more
The National MPS Society has awarded a $100,000 grant to the Greenwood Genetic Center (GGC). Richard Steet, PhD, Director of Research at GGC, is the lead investigator on the two-year project aimed at improving the diagnosis and hastening treatment for patients with these rare disorders.
Mucopolysaccharidoses (MPS) and related disorders, as a group, affect approximately 1 in 25,000 individuals. The MPS Society provides support resources for families as well as funding for research into this group of disorders which can affect the health, development, quality of life and lifespan of affected individuals. GGC has a long-standing interest in MPS disorders including providing clinical care, diagnostic testing, and research for many of these rare conditions.
Several of these conditions have been added to newborn screening, also known as the heel prick test, that screens all infants at birth for a variety of treatable genetic disorders. The Biochemical Diagnostic Laboratory at GGC is directly involved with secondary testing of newborns that receive a positive screening result.
According to Steet, these newborn screening efforts are identifying new changes within genes related to MPS disorders that aren’t always easily interpreted, leading to uncertainty in the diagnosis.
“Some of these novel changes may be disease-causing, while others are not,” said Steet. “Not knowing the significance of the gene changes puts patients and families in a state of limbo, uncertain as to whether they should start therapy.”
As more states, including South Carolina, are starting to screen for MPS disorders at birth, Steet and his colleagues in the Research and Diagnostic Divisions at GGC are developing cell- and zebrafish-based models to determine which of these gene changes are false positives and which are true mutations.
“Once the significance of these changes is known, then labs around the world who are running these tests can report their results with confidence, families with false positives can be reassured, and those with true mutations can start life-altering treatment without further delay,” said Steet.
“The National MPS Society is honored to support Dr. Steet’s research in the development of newborn screening assays,” said Terri Klein, President and CEO of the National MPS Society. “GGC produces groundbreaking research that is key to unlocking the understanding of these rare diseases. MPS is a life-limiting disease, and children lose their battle early. Moving science forward will help change the outcomes of children diagnosed now and in the future.”
About Greenwood Genetic Center
The Greenwood Genetic Center (GGC), founded in 1974, is a nonprofit organization advancing the field of medical genetics and caring for families impacted by genetic disease and birth defects. At its home campus in Greenwood, South Carolina, a talented team of physicians and scientists provides clinical genetic services, diagnostic laboratory testing, educational programs and resources, and research in the field of medical genetics. GGC’s faculty and staff are committed to the goal of developing preventive and curative therapies for the individuals and families they serve. GGC extends its reach as a resource to all residents of South Carolina with satellite offices in Charleston, Columbia, Florence, and Greenville. The GGC Foundation provides philanthropic financial support for the mission of the Center. For more information about GGC or the GGC Foundation please visit www.ggc.org.
About the MPS Society
The National MPS Society exists to cure, support, and advocate for MPS and ML. Their mission serves individuals, families, and friends affected by Mucopolysaccharidoses and Mucolipidosis through supporting research, supporting families, and increasing public and professional awareness. For more information on MPS and ML, please visit www.mpssociety.org.
Greenwood Genetic Center, MUSC affiliate to improve patient access to innovations in genetic servicesMUSC partners with Greenwood Genetic Center see more
The Greenwood Genetic Center (GGC) and the Medical University of South Carolina (MUSC) have signed an affiliation agreement with the goal of providing patients across South Carolina with accessible, high-quality, coordinated and cost-effective genetic services through a collaborative approach to providing medical care. The two entities have worked together informally on clinical consultations, provider education and research for more than a decade. This affiliation seeks to formalize and expand the depth and breadth of the relationship. According to MUSC, a partnership with the state’s most advanced and innovative genetic center was an easy choice.
“I live in Greenwood, and I’ve said for years that a lot people don’t understand what an absolute gem this center is,” said Charles Schulze, chairman of the MUSC Board of Trustees. “They’ve helped almost 100,000 families across the state make incredibly important decisions, unmasked difficult-to-diagnose conditions, and have been there for these families every step of the way when faced with good news, or not so good news.”
While there are any number of reasons people may want to learn more about how their genetics may affect their or their loved ones health, all patients want the same thing: high-quality care at the lowest cost and access to the latest technologies, diagnostics and research related to their genetic stories. In the interest of better serving these needs, the initial goals of the partnership include:
- Increasing access to clinical genetic services for MUSC patients and all South Carolinians
- Optimizing the patient journey to improve wait times for appointments and consultations
- Sharing critical resources and expertise where possible to lower costs
- Pursuing workforce development, research, clinical trials and treatment collaborations.
Nearly every child in South Carolina who was diagnosed with a genetic birth defect, developmental delay or other hereditary disorder has already been referred to GGC, due to the center’s expertise with rare conditions and commitment to new technologies and diagnostics. GGC, a nonprofit institute centered on research, clinical genetic services, diagnostic laboratory testing and educational programs and resources, is focused on compassionate patient care and innovative scientific advancement.
About Greenwood Genetic Center
The Greenwood Genetic Center (GGC), founded in 1974, is a nonprofit organization advancing the field of medical genetics and caring for families impacted by genetic disease and birth defects. At its home campus in Greenwood, South Carolina, a talented team of physicians and scientists provides clinical genetic services, diagnostic laboratory testing, educational programs and resources, and research in the field of medical genetics. GGC’s faculty and staff are committed to the goal of developing preventive and curative therapies for the individuals and families they serve. GGC extends its reach as a resource to all residents of South Carolina with satellite offices in Charleston, Columbia, Florence and Greenville. For more information about GGC please visit www.ggc.org.
Greenwood Genetic Center has set its sights on growing see more
The Greenwood Genetic Center has partnered with Greenwood County, South Carolina’s economic development arm on a plan to add new investors to its campus. Read on for full details...