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Greenwood Genetic Center: Answering the Unanswered

greenwood Genetic Center

Before next-generation sequencing (NGS) came along, children and families with rare and undiagnosed genetic diseases often faced years-long diagnostic odysseys. By providing comprehensive, unbiased information, NGS has helped diagnose thousands of people with rare diseases, giving clinicians, patients, and families essential information to move forward.

Michael Friez, who directs Greenwood’s diagnostic laboratories, has been with the center since 1998, giving him a front-row seat for the genomics revolution. “After graduate school, I came to Greenwood to conduct a clinical molecular fellowship,” he says. “At the time, the center had just purchased its first single-capillary Sanger instrument. We bought our first next-gen sequencer in 2009. Over the years, incorporating these capabilities has been pretty amazing.”

Long-Standing Collaborations with Illumina
For several years, Greenwood used targeted gene panels. However, because their patients are so genetically diverse, the team adopted whole-exome sequencing (WES, which reads only the gene-coding regions of the genome) in 2014. WES granted them additional clarity in pinpointing the causative variant in a disease. Over the years that followed, whole-genome sequencing (WGS) became more accessible and cost efficient and eventually they had an opportunity to internally test, integrate, and validate the more comprehensive whole genome assay. In 2021, Greenwood took the next step and launched their WGS program.

As new technologies emerged, including data solutions, Greenwood has been among the first to bring them online. The center was an early adopter of artificial intelligence (AI) capabilities that helped accelerate Greenwood’s turnaround times by 75%.

Greenwood began diving into epigenetics more than a decade ago, at first to look for connections between abnormal methylation and autism. In 2019, Greenwood and the London Health Sciences Centre, in London, Ontario, adopted EpiSign technology to analyze methylation patterns and clarify variants of uncertain significance.

“We are the only lab in the US that offers this as a clinical test,” Friez says. “It covers about 130 conditions, and there’s really no sign of slowing down in terms of new signature identification.”

The Therapeutic Gap
Although genomic technologies answer significant questions for patients and their families, a gap remains in therapy options for rare disease patients. Only a few hundred approved therapies exist for about 8,000 rare diseases. “There’s been a delay in finding viable therapeutics,” says Friez. “Gene therapy and related approaches have not played out at the pace many people hoped for. Once we have a diagnosis, the next task is to ask: ‘What can we do to make their life better? Can we connect them to a clinical trial?’”

This mindset permeates the organization. Despite their many successes, Friez says the team at Greenwood is always thinking about “how can we do more for the patient,” and looking for new possibilities. Friez adds, “The challenges around diagnostics and therapy selection for rare disease patients make us want to keep pushing harder and keep looking for new angles on how we can leverage the technology to answer those unanswered questions.”

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Tamia Sumpter

Tamia is a driven senior undergraduate Bioengineering student currently enrolled at Clemson University. With a strong foundation in her field, she has honed her skills through hands-on experience in research and development at Eli Lilly & Company. During her time in the ADME department, Tamia contributed significantly by working on siRNAs and their applications in finding In Vitro-In Vivo Correlation (IVIVC). Looking ahead, Tamia has set her sights on a promising career in law. She aspires to specialize in Intellectual Property Law, with a particular focus on serving as in-house counsel for leading medical device or pharmaceutical companies. Her enthusiasm for this role is palpable as she prepares to embark on her legal journey! She is also a proud member of the Omicron Phi chapter of Delta Sigma Theta Sorority, Inc., PEER Mentor for Clemson PEER/WiSE, and currently serves as the President of Clemson Bioengineering Organization (CBO). With her unique blend of scientific knowledge and legal interests, Tamia is poised to make a meaningful impact in the healthcare and life sciences industries.