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genetics

  • sam patrick posted an article
    Precision Genetics featured in Silicon Review article see more

    Courtesy of Silicon Review

    Silicon Review recently interviewed Nate Wilbourne, founder and CEO of Precision Genetics-- a life sciences organization based in Greenville, SC -- about how the company is making a difference in helping patients use of tools to share genetic risk assessments with their healthcare provider.  Enjoy the complete article here.

     

  • sam patrick posted an article
    MUSC researchers using genetics to tackle health disparities see more

    Compliments of Kaiser Health News

    Quenton Tompkins’ family tree is deeply rooted in rural McCormick County, South Carolina.

    His grandfather was a sharecropper in McCormick. His mother, who turns 88 this month, grew up as the youngest of 24 children. Branches of aunts, uncles, and cousins now stretch from Florida to Chicago.

    And although 48-year-old Tompkins has heard plenty of stories, his family holds its secrets, too.

    He didn’t know until he was an adult that his grandfather died of leukemia. And he’s still unsure if his father’s bout with prostate cancer runs in the family. Tompkins’ mother and her siblings have dealt with a range of health issues, including diabetes, heart attacks, and strokes, but he still doesn’t know what killed his grandmother more than 70 years ago.

    “Those are questions I go through personally,” said Tompkins, a lobbyist for the Medical University of South Carolina. “There’s another side to knowing where you come from.”

    Twenty-two years ago, President Bill Clinton announced the completion of a “draft version” of the Human Genome Project, a breakthrough he described as “the language in which God created life.” He predicted that scientists, armed with genetic discoveries, would find cures for Alzheimer’s disease, cancer, Parkinson’s disease, and diabetes in the coming years.

    Clinton’s prediction, of course, hasn’t yet come to pass. But researchers in Charleston are hopeful that a large genetics research project underway across South Carolina may help scientists address some of the state’s persistent health disparities, which disproportionately impact its Black residents and regularly rank among the nation’s worst.  Enjoy the rest of this article compliments of Kaiser Health News.

  • sam patrick posted an article
    16 projects funded with generosity of Prisma Health team see more

    The Health Sciences Center at Prisma Health has awarded Clemson University researchers 16 grants that range from projects on cancer treatments to the use of exoskeletons for health care providers.

    The seed funding supports the mission of the center, a collaborative effort between Clemson University, the University of South Carolina, Furman University and Prisma Health to foster cooperative research.

    Windsor Westbrook Sherrill, associate vice president of health research at Clemson University and chief science officer at Prisma Health, hopes that these projects will inform best practices within health care research and influence positive change within the health care system.

    “This year’s submissions were phenomenal, and we look forward to seeing the results from these 16 funded projects. Having clinicians and academic researchers involved in these projects ensures that the research has the best chance of creating transformation in health care and health outcomes,” Sherrill said. “Since this program began seven years ago, several projects have received large federal funding and results have been implemented at Prisma Health, helping improve the care of their patients.” 

    Click here to read complete details about the one-year grant projects, including the names of Clemson and Prisma Health researchers.

  • sam patrick posted an article
    National magazine does cover story on Greenville's Precision Genetics see more

    The February 2022 issue of Healthcare Business Review magazine features Greenville, South Carolina-based Precision Genetics in a fabulous story entitled "Where Precision Healthcare Meets Genetics".  The cover story addresses such topics as the role of genetics in mental health... the pandemic's impact on mental health... a look ahead at the future of healthcare.  Click here to enjoy the complete article.

  • sam patrick posted an article
    Bravery, generosity mark efforts to beat rare disease see more

    When Cortney Gensemer visited her professor during office hours to discuss her Ph.D. dissertation, she had no idea she would be able to study her own disease. 

    Gensemer, a doctoral candidate at the Medical University of South Carolina, first started noticing her symptoms at age 14, when she was forced to sit out the first year of girls varsity lacrosse at her high school in Pennsylvania. She endured numerous joint dislocations and soft tissue tears in both hips before she was diagnosed with hypermobile Ehlers-Danlos syndrome, a rare genetic connective tissue disorder that affects joint and neck movement, at age 19. 

    Prior to her diagnosis and over a year into Division II college lacrosse at West Chester University, she thought her constant injuries meant she just wasn’t as tough as the other athletes on the field. 

    “None of the physical therapists or athletic trainers I was seeing were familiar with EDS,” Gensemer said. ”There was no one saying, ‘This is something bigger.’ ” 

    Now, at age 25, she’s in the last year of her doctoral program at MUSC and recovering from her eighth surgery since being diagnosed. 

    Aside from the gray and blue brace she wore after her most recent surgery to keep the joints in her neck in place, she appeared in good health while working with school lab partners at the end of February. 

    A tattoo of the word “resilience” on her left forearm serves as a reminder to push through moments of severe pain. She calls it her EDS tattoo.

    “It pushes me to want to work hard because I’m literally living with what I’m researching,” Gensemer said. “I’m going to be in awful chronic pain whether I’m sitting on the couch or in the lab.”

    Now, MUSC is on the brink of opening the country’s first Ehlers-Danlos syndrome institute for research, clinical care and education on the disease.

    Symptoms of the hereditary disease range from frequent joint dislocations, joints that extend beyond the normal range, and loose ligaments in the neck and spine. 

    EDS affects roughly 1 in 3,000 people worldwide and so far has 14 different variations. The hypermobile variant is known to be the most common. However, researchers say the real number could include many more since the disease is often undiagnosed or misdiagnosed. Currently there is no cure for EDS. 

    Gensemer is one of the only reasons EDS is being studied at MUSC. Her studies are housed in the Norris Lab, where her professor, Dr. Russell Norris, leads her and a team of 13 researchers and volunteers, some of whom also have EDS. 

    She and the team have so far identified the first strong candidate gene for hypermobile EDS, which could lead to new ways to diagnose patients earlier and more definitively.

    “I didn’t realize how powerful my own story could be,” Gensemer said. “An EDS Institute is something that patients like me have dreamed about our entire lives.”

    Living with EDS
    It can be years before a patient actually confirms they have EDS. And different variants of the disease show up with different symptoms.

    Gensemer was diagnosed within the first five years of exhibiting symptoms, while the average EDS patient waits 10 to 14 years to be properly diagnosed.

    “Hypermobile EDS is really difficult to diagnose because there isn’t a molecular or genetic diagnostic test for it,” Gensemer said. “Identifying this new gene is going to ensure patients aren’t passed around from doctor to doctor or living with vague symptoms for years without knowing what connects them.”

    For most EDS patients, undergoing numerous surgical procedures to reduce chronic pain is a necessity and often the best option for long-lasting relief. 

    Gensemer’s most recent surgery addressed loose ligaments in her neck that couldn’t hold her spine in place. Some doctors say this movement between the neck and head resembles the movement of a bobblehead, causing severe neck pain, sensitivity to light and lingering headaches. 

    To help, doctors fused the vertebrae of her spine together with titanium plates and screws to properly support her head, relieve lingering pain and prevent further symptoms. 

    Gensemer said that before she could undergo surgery, doctors needed to perform an upright MRI to determine what parts of her neck and spine needed support.

    This specific MRI helps to diagnose certain spinal and neck complications of EDS that don’t show up on an MRI scan in the traditional position. 

    However, the nearest upright machine is in Greenville, a nearly four-hour drive. A ride that length can be incredibly painful and in some cases near impossible for people with EDS. 

    That was the case for Sydney Severance, a 16-year-old from Daniel Island, who was diagnosed with EDS in 2020 after months of shuffling back and forth to doctor appointments. 

    Severance’s symptoms left her wheelchair bound, constantly vomiting and extremely sensitive to light. At MUSC, neurological and spinal specialist Dr. Sunil Patel suggested she may be suffering from craniocervical instability, a type of loose ligament condition in EDS that results in injury to the nervous system.

    Finally, she had found a physician who could tell her what was causing her so much pain. But in order to officially diagnose Severance she would need to have an upright MRI scan done, and she wasn’t able to make the drive. Luckily, a family friend of the Severance’s flew them to Greenville privately for the MRI, where her diagnosis was confirmed.

    “It was still excruciating and very difficult to be moved around and have a long day of travel, even though my situation was a lot better than some patients,” Severance said. 

    While Severance agrees that luck was on her side, many others like her who have to drive may turn a four-hour drive into a multiple day trip.

    She recalled talking with an EDS patient who suffered from seizures due to the same loose ligament problem as Severance. The other patient had at least 18 seizures during the trip for their MRI scan. 

    To Severance, the path to diagnosis for patients with this disease is much longer than the drive to Greenville. In fact, some patients go so long without knowing their affliction that it causes severe psychological trauma and confusion regarding the pain they are experiencing.

    So after undergoing her first successful surgery for EDS in 2020, Severance founded Operation Upright, a campaign to raise over $1 million to bring an upright MRI machine to Charleston. 

    Her campaign aims to lessen the average time for diagnosis and give other EDS patients like her a chance at early detection. So far it’s raised over $800,000 out of the $1.2 million goal, including a recent anonymous donation of $600,000. 

    “I was able to get a diagnosis much faster than most people,” Severance said. “I think having an upright MRI machine in Charleston would help a lot of other people reach diagnosis quickly.”

    Gensemer’s research and Severance’s fundraising position them as two of the strongest forces advocating for EDS in the state, fighting for more information and better treatment options for patients across the country and especially within the Lowcountry. 

    Gensemer also developed an EDS patient registry, collecting DNA information from over 3,000 patients nationwide for further genetic research. So far, nearly 80 percent of patients in the registry inherited the disease from a family member.

    According to Norris, the MUSC professor who leads the lab Gensemer works in, the gene they discovered could help doctors decide on the best treatments and physical therapies for patients, and possibly reduce the amount of surgeries a patient undergoes in a lifetime. 

    Now they are testing the theory with animals, transferring the identified gene in humans to mice in their lab in hopes of being able to expand their studies on the disease.  

    “The mice are hypermobile and have changes in connective tissue,” Gensemer said as she carefully held one of the lab mice by the tail. “Now we can use that mouse to expand our studies.”

    While both Gensemer and Severance are currently recovering from surgeries due to complications with EDS, they both say the work they are doing motivates them to keep going. 

    “Fundraising for this upright MRI really keeps me positive because I’m able to turn what has made my life a lot more difficult into something a little more positive,” Severance said. 

    So far, complications from EDS have resulted in Severance relearning to walk at least twice since being diagnosed, and her most recent surgery left her in the hospital for 16 days. 

    “She’s incredibly positive,” said her mother, Ashley Severance. “Even as she was learning how to walk again, she considered herself lucky.”

  • sam patrick posted an article
    New DNA-based approach may be wave of the future see more

    Compliments of Greenville Business Magazine

    If your doctor knew your risk for colon cancer or heart disease years before the disease developed, he or she could help you take steps to prevent it.

    And by collecting DNA samples from thousands of South Carolinians, the Medical University of South Carolina is embarking on a project which hopes to do just that. 

    In the initiative, which stakeholders call the first of its kind in the state, MUSC is partnering with population genomics company Helix to study DNA to drive a concept known as precision medicine. It allows providers and patients to develop health care plans with a more preventive approach.

    The power in precision medicine cannot be overstated, said Dr. Lori McMahon, vice president and associate provost for research at MUSC.

    “Genes are what make us who we are,” she told Integrated Media, publisher of Greenville Business Magazine, Columbia Business Monthly and Charleston Business Magazine. 

    “What we learn here … will influence care for individuals across the country and across the globe.” 

    The earlier genes associated with a disease are found, the better the chances of successful treatment, said Dr. Dan Judge, professor of medicine and cardiology at MUSC and director of cardiovascular genetics.

    Theoretically, this concept might have helped “Black Panther” star and Anderson, S.C., native Chadwick Boseman, he said.

    Boseman died last year of colon cancer at the age of 43, seven years before traditional colonoscopy screening typically begins, he said. 

    Had he learned through DNA testing that he had a propensity to develop the disease, that screening could have begun much earlier, perhaps in time to keep the cancer from progressing, he said.

    And a woman with a genetic predisposition to breast cancer might begin mammograms at an earlier age or get more sensitive MRIs instead, Judge said.

    “We hope we’ll be saving lives with this project,” he said. “That’s really the bottom line.”

    The project will focus on certain forms of cancer and cardiovascular disease initially, but hopes to expand to other diseases in time, McMahon said.

    Called “In Our DNA SC,” the project hopes to enlist 100,000 South Carolina adults – 25,000 a year for four years, Judge said.

    The initiative will start with MUSC patients who already have an electronic health record and an upcoming appointment, he said. They will get a message through MyChart to let them know they’re eligible. Later, it will expand across South Carolina.

    “It won’t be something that private physicians can order directly,” he said. “This program requires people to sign up through a review board process so that it’s gone through protocol, and safety and confidentiality issues are all addressed.”

    Similar programs have identified as many as one in 75 participants who were at risk for a serious health issue, 90 percent of which would not have been discovered through traditional practice, said Dr. James Lu, CEO and co-founder of California-based Helix, which describes itself as a population genomics company at the intersection of clinical care, research and genomics.

    “By expanding access and making genomic data actionable for health care providers,” he said, “we will be able to work in tandem with MUSC … to identify risk earlier and prevent or mitigate serious diseases for its community and beyond.”

    The popularity of companies like 23andme shows that people want to understand their genetics, McMahon said.

    “People are even buying DNA kits for their dogs,” she said.

    The genetic test is free to participants and involves only a saliva sample.

    Genetic counseling will be provided to patients whose DNA reveals a risk for disease so there can be further discussion of what it means for the patient and for family members who might be at risk as well, he said.

    In addition to the clinical component, the project has a research component that will develop a dataset to advance genomics research.

    It also will examine how genetic changes influence the development and progression of disease, McMahon said, and help in the development of new and better therapeutics. 

    For instance, some people respond to certain blood pressure medications while others don’t, but it’s not understood why.

    “This will help us try to understand the genetic basis for that,” she said, “and who may need alternate therapy.” 

    Caroline Brown, chief of external affairs at MUSC, said the hospital system and Helix took steps to ensure that patient data are secure. While the results are linked to the patient’s medical record so his provider has access to them, the information is de-identified for research purposes, she said.

    The genetic results will be entered into the participants’ medical records, like a chest X-ray or MRI results are, where they are available to insurers, Judge said.

    While there is a law called the Genetic Information Nondiscrimination Act that protects people from health insurance or employment discrimination on the basis of genetics, information in medical records can be used to deny life insurance or charge more for it, he said. Patients will be informed of that as part of the consent form for participation, he said.

    Brown said that as a state academic medical center, MUSC is focused on building its genomics prowess to ensure it can be a leader in precision medicine in the future. It chose to partner with Helix because of its established data analytics platform which is capable of large-scale projects like this, she said.

    “MUSC looked for a strategic partner to offer genetic testing that can be provided to the patient and his provider so they better know how their genetic makeup impacts their health,” she said. 

    MUSC has identified funding for the program, Brown said, but she declined to divulge the cost.

    McMahon said that when patients and providers are armed with genetic information, they can make better decisions about care going forward and push health care to a new level.

    “This is the way of the future,” she said.

    And Judge said he expects it will likely be routine within 20 years. 

  • sam patrick posted an article
    Expanding partnerships bode well for South Carolinians see more

    Greenwood Genetic Center (GGC) and The Medical University of South Carolina (MUSC Health) have signed a letter of intent to expand their longtime collaboration to improve access to high-quality, coordinated and cost-effective genetic services and their recent affiliation to drive innovation in the genetics field. A definitive agreement and approval by both organizations’ boards is still required and anticipated by the end of the year.

    The deeper relationship between GGC and MUSC Health presents opportunities to further improve access and enhance patient care, increase access to a broader range of educational opportunities for MUSC students, and position the organizations to take advantage of future strategic research initiatives. The two entities have worked together on clinical consultations, provider education, and research for more than a decade. According to MUSC, adding to the depth and breadth of the almost two-year old formal affiliation with the state’s most advanced and innovative genetic center was an easy choice.

    “We are so pleased to continue aligning and innovating with this like-minded and advanced care provider for the benefit of the state’s citizens,” said James Lemon, D.M.D., chairman of the MUSC Board of Trustees. “We are excited for what the future holds as we move forward together.”

    MUSC Board of Trustees vice-chairman and Greenwood resident, Charles Schulze, agreed. “I live in Greenwood, and I’ve said for years that a lot people don’t understand what an absolute gem GGC is. They’ve helped about 100,000 families across the state make incredibly important decisions, discovered difficult-to-diagnose conditions, and have been there for these families every step of the way.”

    With recent and rapid growth in the understanding of how genetics impacts health throughout the lifespan, access to genetic information is increasingly important for individuals to make informed healthcare and lifestyle decisions. With a primary goal of improving access for patients and their families, this expanded relationship between GGC and MUSC aims to leverage both organizations’ strengths and expertise. Together they will provide high-quality care and access to the latest technological advances in diagnostics, research, and treatment. In the interest of better serving these needs, the expanded goals of the relationship include:

    • Co-developing a strategic plan for genetic services.
    • Continuing to increase access to clinical genetic services for MUSC patients and all South Carolinians.
    • Building on collaborative telehealth platforms to improve wait times for appointments and consultations.
    • Sharing critical resources and expertise where possible to lower costs.
    • Pursuing additional workforce development, research, clinical trials and treatment collaborations.
    • Advancing precision health and jointly serving as leaders in this innovative, dynamic area of health care.

    Nearly every child in South Carolina who has been diagnosed with a genetic birth defect, developmental delay or other hereditary disorder has already benefited from GGC expertise, due to the center’s depth of care for children 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. This deepened relationship with MUSC will mean GGC can expand their purview to include additional adult genetics services to help serve patients with cancer, cardiovascular disease, and other conditions.

    “The Greenwood Genetic Center places great importance on collaborations that improve the quality of care and benefit the patients and families we serve,” said Steve Skinner, MD, GGC Director. “Over the past two years, our affiliation with MUSC has expanded projects such as telemedicine that have had a significant and lasting impact on access to genetics care. With the further expansion of this relationship, GGC can have an even stronger impact on patient care through a connection to MUSC’s broad subspecialties network and clinical trial experience, while GGC can enhance MUSC’s ability to provide pediatric genetics care and state-of-the art clinical genetic testing. It’s a win-win for both institutions, but most importantly, this collaboration is a win for the people of South Carolina who need genetic care, information, and resources.”

    David J. Cole, M.D., FACS, MUSC president, echoed the benefits of the affiliation offered by Skinner, adding, “Two years ago, we started to align the national caliber genetic expertise of GGC- with our outstanding academic medical faculty and specialty care providers,” he said. “It’s been making a real difference for our patients. We’re moving health care forward for all, bringing the best of both organizations so that we can create opportunities for more South Carolina citizens to understand, plan for and manage their health and wellness. By further connecting our work and accountability to each other, MUSC and GGC stand poised to deliver on precision health and even better patient care, research innovations and unique learning opportunities for our students.”

    “The Greenwood Genetic Center and MUSC individually provide exceptional care to patients across South Carolina, each with their own unique areas of expertise,” said Dell Baker, chairman of the GGC Board of Directors. “By further combining our strengths and building upon the other’s needs, this expanded relationship between our organizations has South Carolina poised as a leader in providing the best and most advanced genomic medicine for its citizens.”

  • sam patrick posted an article
    Genetic Center a key initiative at Clemson University see more

    Compliments of Scribble

    The sequencing of the human genome in 2000 gave rise to the vision of personalized medicine. Realizing the importance of this landmark achievement, Clemson University established Human Genetics as a major pillar of its long-term strategic ScienceForward plan. This vision was realized in 2016 with philanthropic support of Self Regional Healthcare and the Self Family Foundation, leading to the construction of Self Regional Hall on the Partnership Innovation campus of the Greenwood Genetic Center (GGC). 

    Self Regional Hall is a 17,000 sq. ft. state-of-the-art facility designed to provide a collaborative environment that is conducive to spontaneous interactions among students and faculty. The Clemson Center for Human Genetics was formally inaugurated in the facility on August 8, 2018.

    In the short period of three years, the Center for Human Genetics has flourished under the leadership of its inaugural director, Dr. Trudy Mackay.

    The Center started with two faculty — Dr. Mackay and spouse and long-term collaborator, Dr. Robert Anholt — two staff scientists, and two doctoral students. With strong support from Clemson University, the Center recruited four assistant professors from Yale University, Stanford University, the University of Chicago, and the University of North Carolina at Chapel Hill. This enabled the Center to expand rapidly to six faculty and a cohort of 16 graduate students on the Greenwood campus and eight affiliated members on the main campus of Clemson University. 

    In 2021, the Clemson University Center for Human Genetics, in collaboration with the GGC, received a grant from the National Institutes of Health for over $13.5 million total cost to establish a Center of Biomedical Research Excellence (COBRE) in Human Genetics to promote the professional development of young investigators. 

    The Center’s Goals for Genetic Research

    The goals of the Clemson Center are two-fold:

    1. to leverage comprehensive systems genetic approaches and comparative genomics to elucidate fundamental principles of the genetic underpinnings of human complex traits, including disease risk.

    2. to promote precision medicine by developing advanced mathematical models to predict disease risk and assess therapeutic benefits based on genetic and environmental factors.

    To enable these activities, the Center has established the most advanced genomics facility in South Carolina with capabilities for short- and long-read DNA sequencing as well as analyses of gene expression networks in single cells. The Center also contains a microscopy facility, a bioinformatics facility, and its own high performance computing cluster for analyses of large datasets.   

    Faculty in the Center use comparative genomics approaches to gain insights in human disorders. Such approaches include studies on the fruitfly (Drosophila) model, which enables sophisticated genetic experimentation, zebrafish (in collaboration with the GGC), which is a powerful model for developmental genetics, and human cell lines. These systems have complementary advantages, so combined insights from studies on these systems can be applied to patients and human populations. 

    Studies in the Center focus on substance use disorders — including cocaine, methamphetamine, and alcohol — cardiovascular disease, cancer, and neurodegenerative disorders. Most genetic studies to date have focused on genes that code for proteins, structural components of our cells and enzymes that catalyze reactions that sustain intermediary metabolism and the formation of macromolecules, such as our DNA. 

    However, protein coding genes comprise only ~2% of the human genome and there is a growing realization that non-protein coding elements of the genome play an important role in gene regulation in health and disease. Thus, a major focus of the Center’s studies is dedicated to elucidating the contributions of noncoding elements of the genome to disease manifestation. Another major focus of faculty in the Center is to develop computational methods to predict disease susceptibility based on genetic and environmental information, a critical prerequisite for personalized medicine. The Center also interacts closely with the GGC to obtain insights in the pathology of rare pediatric diseases.

    The Clemson Center for Human Genetics seeks to develop local, regional, national, and international collaborations to advance human genetics and is currently part of a large international consortium funded by the European Commission to study the genetics of susceptibility to environmental toxins. As part of a major research university, the Center is also strongly committed to educating the next generation of human geneticists by providing educational opportunities for high school students, their teachers, undergraduate and graduate students, postdoctoral fellows and visiting scientists, and to promote public understanding of human genetics through community outreach.

     September 08, 2021
  • sam patrick posted an article
    Senator views progress one year later see more

    Senator Tim Scott’s senior staff visited Diversified Medical Healthcare (DMH) headquarters, touring the Greenville, SC facility which houses four healthcare companies making a national impact. Premier Medical Laboratory Services (PMLS), CPT Medical, OnGen, and Vessel Medical serve as a large-scale molecular diagnostics lab, clinical test kit manufacturer, surgical kit manufacturer, medical data management software firm, laboratory equipment supplier, and PPE kit supplier.

    Just one year ago, Diversified Medical Healthcare’s laboratory, PMLS, became the first lab validated for COVID-19 testing in South Carolina alongside their other advanced clinical diagnostics offerings. Providing an inside look at their 40,000 sqft faciltiy for the US Senator’s staff, DMH founder, Kevin Murdock introduced them to the company’s research and development team of Ph.D. scientists and over 450 employees as well as showcased the cutting edge laboratory automation equipment which has allowed them one of the highest laboratory testing capacities in the nation.

    “From leading research and innovation to generously donating PPE for our front line workers, Diversified Medical Healthcare has been a valuable partner for South Carolina as we’ve worked to get through the pandemic,” said Senator Scott. “Their efforts highlight the life-saving impact of American innovation, and I am proud of the work they have done.”

    The senator’s staff toured the laboratory where over 1,000,000 COVID-19 tests were processed during the last year and data has been managed by their laboratory information management software developed in-house. They viewed CPT Medical where over 6,000,000 COVID-19 testing kits and viral transport media have been manufactured and saw the Vessel Medical facility where hundreds of thousands of customized PPE supply kits were assembled and distributed.

    In the laboratory, PhD Scientist, Vidhya Narayanan spoke with them about a large scale genomic sequencing that Premier Medical Laboratory Services is conducting for the surveillance of new variants of the Sars CoV-2 virus. As the only laboratory in the US fully automated for Next Generation Sequencing, PMLS expects to sequence up to 84,000 specimens per week. This will be a critical contribution in preventing a future surge of new COVID-19 variants.

    “It was a high honor to have Senator Tim Scott’s team here and to show them all that we’re doing right here in South Carolina to improve healthcare across the US,” said Kevin Murdock, founder of Diversified Medical Healthcare. “Senator Tim Scott has done much to improve healthcare and create jobs, and those are two of the driving forces behind what we do here as well.”

    The visit of Senator Tim Scott’s staff, comes just two weeks after SC State Representatives, Bobby Cox and Bruce Bannister visited the facility to view all that DMH is doing to contribute to healthcare in the state of South Carolina and the nation.

    Over the past year, Diversified Medical Healthcare companies have also:

    • Reached one of the highest testing capacities in the nation with the capability to process over 300,000 tests per day
    • Developed medical data management software that communicates directly from laboratory equipment for faster delivery of data to healthcare providers and patients
    • Developed Virtual Lab, an innovative solution to laboratory infrastructure limitations which allows other labs to utilize PMLS’ testing capacity, 450 employees including a research and development team of PhD scientists, and top of the line lab equipment
    • Developed Lab in a Box, turnkey lab equipment for other labs, hospital systems, and large organizations that comes with everything needed for professional laboratory level diagnostics for COVID-19, Flu A and B, upper respiratory, STD/UTI, cancer risk screening, pharmacogenomics, and antibiotic resistance testing
    • Shifted production to add in-house manufacturing of COVID-19 testing kits
    • Achieved the capacity to produce 60,000 COVID-19 testing kits per day
    • Become the official COVID-19 testing lab for the United Soccer League (USL) and Division I/Division II teams in 7 collegiate conferences as well as large schools and business organizations across the US
    • Become the processing lab for Human Health Services surge sites and state health departments in South Carolina, Arizona, Utah, and North Carolina 
    • Become the Blue Cross Blue Shield preferred COVID-19 testing lab in Texas, South Carolina, and North Carolina
    • Donated hundreds of thousands of masks to local law enforcement, paramedics, fire departments, hospitals, and the Shriners organization and has provided free testing to first responders during the pandemic

    For more information, please visit www.divmedinc.com or call 866-521-7541.

    ###

    ABOUT DIVERSIFIED MEDICAL HEALTHCARE

    Diversified Medical Healthcare (DMH), a holding company with four subsidiary healthcare companies, Premier Medical Laboratory Services (PMLS), CPT Medical, OnGen, and Vessel Medical. PMLS is an advanced molecular diagnostics lab fully certified by top laboratory accrediting organizations, including Clinical Laboratory Improvement Amendments (CLIA) and COLA. PMLS testing menu includes Pharmacogenomics, COVID-19 testing, Advanced Cardiovascular Testing, Diabetes, Women’s Wellness panels, Allergen Specific Ige Blood Testing, Toxicology, and a first of its kind predictive genetic test for type II diabetes, DiabetestPredict. CPT Medical, Inc. has manufactured surgical custom and standard procedure trays, packs, and kits assembled to fit specific needs and requirements for over 15 years. Now, CPT Medical also manufactures and distributes COVID-19 testing kits with the FDA recommended viral transport medium as well as nuclease free water for laboratories. OnGen is an advanced Laboratory Information System that automates laboratory processes for higher efficiency, accuracy, and profitability. Vessel Medical, since its inception in 1991, has been committed to providing physician’s offices, hospitals, laboratories and their employees with the right workflow solutions, medical supplies, and medical equipment for their needs. Included in their medical equipment offerings is ‘Lab in a Box,’ turnkey laboratory equipment that can turn a 600 sq. ft. room into a COVID-19 testing facility with the capacity to process up to 12,000 tests per day within 24 hours. For more information, please visit www.divmedinc.com or call 866-521-7541.

  • sam patrick posted an article
    Greenwood Genetic Center project receives grant to expand access for genetics services see more

    The Greenwood Genetic Center (GGC), through the Self Regional Healthcare Foundation, has been awarded a grant of $899,000 from The Duke Endowment for 'Genetics Access for All,' a project to expand access to genetics services for patients and providers.

    "In this current era of genomic medicine, there is an increasing demand for clinical genetics services, but our workforce is insufficient to meet this demand, and our current work flows are inefficient," said Mike Lyons, MD, Director of Clinical Services at GGC and lead on the funded project. "This leads to families facing long waits to be evaluated and tested, and subsequent delays in managing and treating their child's condition."

    GGC has provided clinical genetics services since 1974; however, with the increase in demand for services, and inability of genetics training programs to keep up with the ensuing workforce demand, patients often wait for six months or longer to be seen.

    "This is not just a GGC issue. Genetics clinics around the country are facing wait times that are as long or longer than ours," said Steve Skinner, MD, GGC Director. "And we have found that as genomic technology has been evolving at such a rapid pace, many non-genetics providers do not feel comfortable ordering and interpreting genetic tests on their own."

    'Genetics Access for All' proposes a new standard of genetics care by optimizing access for patients and employing a new system of communication to transform how non-genetics providers engage with genetics providers in order to better manage their patients.

    In 2019, GGC and the Medical University of South Carolina (MUSC) signed an affiliation agreement with the goal of improving access to genetic services for patients across SC.

    One initiative that has grown out of this affiliation is a pilot project with the MUSC Center for Telehealth to develop an electronic consult (e-consult) system for genetics referrals. The project initially offered the option only to a limited number of referring providers in the MUSC system. Funding from The Duke Endowment will allow that project to expand on a much larger scale.

    During the first year of the funded project, GGC will implement e-consults through an online platform to allow non-genetics providers to upload patient information, and receive clinical impressions and testing recommendations within two business days. E-consults will help avoid unnecessary referrals, improve communication with non-genetic providers, and enhance efficiency by decreasing the amount of time needed for in-person and telemedicine visits.

    In year two, GGC plans to expand the concept to provide electronic patient visits (e-visits) allowing patients to upload their information electronically and quickly receive clinical feedback and recommendations. The goal of e-visits is not to replace in-person or telegenetics visits, but to provide another care option that improves communication with and access for patients.

    Lyons says that the ultimate goal of this project is to change the model of genetics care from a long diagnostic odyssey to a more efficient system that decreases unnecessary referrals, expedites diagnoses, and decreases wait times for appointments.

    "Through e-consults, we'll be able to more quickly identify patients who need genetic testing and facilitate the appropriate testing," he said. "A rapid diagnosis will allow for more timely and precise management and treatment for all patients impacted by a genetic disorder."

    GGC expects to see significant improvements in patient care as the project expands. "Our goals are to complete 50 outpatient and 25 inpatient e-consults and 25 e-visits per month by the end of the grant cycle," said Lyons. "We anticipate this project to dramatically improve wait times for all types of visits, and hope that our success can be translated into a new model for genetics care in clinics nationwide."

     

    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.

     

    About The Duke Endowment

    Based in Charlotte and established in 1924 by industrialist and philanthropist James B. Duke, The Duke Endowment is a private foundation that strengthens communities in North Carolina and South Carolina by nurturing children, promoting health, educating minds and enriching spirits. Since its founding, it has distributed more than $4 billion in grants. The Endowment shares a name with Duke University and Duke Energy, but all are separate organizations.

  • sam patrick posted an article
    COVID testing expands in workplace see more

    Courtesy of GSA Business Report & Molly Hulsey

    As industry begins to reopen across the state, life science companies turn their sights to expanding COVID-19 diagnostic and antibody testing options for the workplace.

    Greenville-based lab Precision Genetics partnered with Prisma Health in early April to process the health care system’s COVID-19 tests within 24-hours of reaching the lab.

    Now that this testing line is fully automated with the capacity to churn out about 1,000 samples in a matter of hours, the lab is developing plans for the next testing battleground with a high-throughput COVID-19 diagnostic program called “Precision Worker Safety” and a smartphone employee wellness app created by Questis that uses an RFID thermometer to report feverish temperatures to employers.

    “Up here in Greenville, manufacturing is a huge, huge part of our economic situation, so we have to be able to provide employers some kind of assurance that their employees can come back to work without a rapid spread of the virus,” Nate Wilbourne, CEO and president of Precision Genetics said, adding that it is “naive” to think the state peaked in mid-April with so little testing.

    He said Precision is working with several large self-insured manufacturing companies as well as poultry suppliers to develop a salvia-based testing strategy. Pending a state-supported grant that the lab applied for during the week of May 1, Precision will launch saliva-based testing within three weeks.

    Other methods of testing face a waiting period before they can be implemented, while the app is several months away from release, he said.

    “What we’ve developed is a combination approach to COVID-19 screening and an antibody test as it evolves, as the workforce is building up an immunity at the individual level, which reduces the spread over time,” he said. “Until there’s a vaccine or some type of therapy, that is the safest way to go about this.”

    In late April, however, Wilbourne said current antibody tests led to a number of false positives and negatives.

    “Unfortunately, antibody testing is not very reliable today, as it sits,” he said. “There are still a lot of gaps in the science regarding the sensitivities and specifications. Right now, there are 50 proteins in the coronavirus. Right now, we (the health science community) are testing for multiple proteins, but there’s no way to guarantee which protein creates immunity.”

    He also said antibody testing can only detect antibodies a few weeks after individuals have recovered from COVID-19 but noted that the work of professionals like Dr. John Wrangle, Precision’s chief medical officer and medical oncologist at the Medical University of South Carolina, are heading up research to broaden the window of antibody detection and accuracy of the tests.

    Sam Konduros, CEO and president of SCBio, said the life sciences economic development network is working to support continued research and implementation of both diagnostic and antibody testing across the state.

    “Even from the beginning, we were trying to present every approved and available COVID-19 test kit option we were aware of, and as you can imagine, we are moving heavily into the world of antibody testing now too,” he said. Our primary goal in representing the life sciences industry in the state is to have a very ecumenical approach of what resources are available that can help employers reopen as safely as possible if working remotely is not an option.”

    One way SCBio hopes to open those options to employers is making test kits readily available to state industries through the COVID-19 Emergency Supply Collaborative that SCBio helped develop with the S.C. Manufacturers Extension Partnership, the S.C. Hospital Association and S.C. Department of Commerce.

    Created in early April with the goal of bridging shortages in personal protective equipment and other critical needs goods to health care systems, Konduros said the online portal also welcomes purchases from businesses, especially manufacturers, in need of South Carolina-made masks, disinfectant, test kits or a host of other high-demand products.

    On April 7, Konduros also noted that antibody testing tended to be a less reliable indicator than diagnostic testing at this point, but he sees potential for companies to use both, especially as antibody testing becomes more sophisticated and “herd immunity” builds.

    “From a diagnostic standpoint, there doesn’t seem to be a substitution for PCR testing, which is going to be the one way to confirm a diagnosis for someone with COVID-19, either someone who is showing acute symptoms or has had clear exposure, or is working in an environment where an employer would simply need to know there is that issue,” he said.

    On the other hand, Konduros is intrigued by the potential of workforce antibody testing as research moves forward, especially with tests used by Abbott Laboratories,  that detect IgG antibodies that remain in the bloodstream for several weeks after an individual recovers from COVID-19. He said that as the state moves into summer, Abbott is planning to release large quantities of IgG tests that are at least 98% accurate.

    “I certainly think the antibody tests are going to innovate and improve over time, and there’s going to be a lot more data to see how people are responding who have had COVID-19 and what kind of immunity is being developed. There are just so many variables right now,” Konduros said.

  • sam patrick posted an article
    GGC Partnership Campus website to market for future growth see more

    Courtesy of GSA Biz Wire

    The Greenwood Genetic Center (GGC) Foundation, a nonprofit 501c3 established to serve as the philanthropic arm supporting the mission of the Greenwood Genetic Center, is proud to announce the launch of a new website highlighting their GGC Partnership Campus at http://partnershipcampus.com/.

    The GGC Partnership Campus will serve as both an anchor of Greenwood’s emerging Medical Innovation District and as a vital, connected hub within the broader Greenwood community. The campus will become the location of choice for companies and organizations seeking a quality-of-life environment with a focus on promoting connections and collaboration.

    The GGC Partnership Campus will provide a unique asset for the City of Greenwood while supporting GGC’s long-term goals for the delivery of clinical care, diagnostic testing, research advances, and educational initiatives.

    In addition to the Greenwood Genetic Center, the campus currently includes The Upper Savannah Council of Governments, Carolina Health Center’s Children's Center, and the Clemson Center for Human Genetics’ Self Regional Hall.

    The Clemson Center for Human Genetics’ (CCHG) presence on the campus enables Clemson’s growing genetics program to collaborate closely with the tradition of excellence in genetic services, testing, and research at GGC, combining basic science with clinical care. Last year, CCHG named internationally acclaimed geneticist, Dr. Trudy Mackay, as Director of CCHG. Dr. Mackay is building a team of researchers to advance the understanding of the fundamental principles by which genetic and environmental factors determine and predict both healthy traits and susceptibility to disease in humans. Together, the CCHG and GGC will strive to use new technologies and knowledge to develop treatments for genetic disorders.

    The GGC Partnership Campus website features a streamlined modern design, improved functionality, and easy access to essential information to help individuals and companies looking to locate on the GGC Partnership Campus. The new comprehensive website offers campus information, relocation assistance, a facilities overview, news, and contact information.


    About The Greenwood Genetic Center Foundation
    The GGC Foundation is a nonprofit 501c3 established to serve as the philanthropic arm supporting the Greenwood Genetic Center (GGC) in their work of serving families in the fight against genetic diseases, birth defects and autism. GGC has provided over 45 years of compassionate clinical care, unparalleled diagnostic lab services, globally-renowned research discoveries, and innovative educational programs. Visit ggc.org/foundation.

  • sam patrick posted an article
    MUSC 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.

  • sam patrick posted an article
    Greenwood, South Carolina's globally recognized genetics center is further investing... see more

    Greenwood Genetic Center has invested more than $1.75 million in laboratory equipment and a new on-site aquaculture facility that the organization says is the largest zebrafish facility in the state.

    The new equipment includes a NovaSeq DNA sequencing system and a confocal microscopy system. The Illumina NovaSeq 6000 System offers high-throughput sequencing across a broad range of applications. The NovaSeq also meets the research needs of both the center and the Clemson Center for Human GeneticsRead the full news release here.