Care Reimagined: Case for Support

BRIEF HISTORY

Hal Taylor, PhD, who met as trainees at Johns Hopkins Hospital. Dr. Stevenson and Dr. Taylor shared both a passion for medical genetics and compassion for the challenges faced by families with genetic disorders.

These scientists and friends developed the original vision for GGC that was guided by two overarching principles:

1. Provide compassionate patient care

2. Offer state-of-the-art genetic technologies

In the fifty years since opening our doors to those impacted by genetic disorders, we have never wavered in our commitment to providing high-quality patient care. That commitment is what drives our desire to do more.

In these 50 years, the GGC, in partnership with other organizations, has been a part of the rapid evolution of genetic and genomic technologies that have enabled the identification of new rare diseases, development of novel diagnostic techniques, implementation of artificial intelligence to analyze massive data sets, and adoption of new research methods allowing us to better define, diagnose, and treat genetic disorders.

From an initial staff of six, the GGC has grown to a workforce of over 190 caring and talented individuals. From early genetic testing involving manual analysis of 46 low-resolution chromosomes, we are now routinely analyzing whole genomes with greater than 3 billion data points per patient. From the early days of having limited treatment options to offer, we now provide hope with cutting-edge therapies.

Co-Founders

Roger Stevenson, MD and Hal Taylor, PhD

A NEW PRECISION MEDICINE INITIATIVE—AN INTEGRATED

MODEL THAT BRINGS TOGETHER ALL FOUR GGC DIVISIONS:

CLINICAL SERVICES DIAGNOSTIC TESTING RESEARCH EDUCATION

STRIVING TOWARDS AN AMBITIOUS GOAL OF ENSURING THAT ALL PATIENTS WITH A GENETIC DISEASE HAVE ACCESS TO THE RIGHT TREATMENT AT THE RIGHT TIME.

FROM THE DIRECTOR

At the GGC, we are committed to always providing compassionate care for patients and families impacted by genetic disease. This commitment stems from a strong desire by all faculty and staff to provide answers where none have been found, treatments where none have existed, and hope where circumstances may seem hopeless.

As a result, the promise of our Precision Medicine Initiative will lead to more effective management and potential cures, providing patients and families with the best medical care available.

I am proud to announce the launch of Care Reimagined, a campaign so named because together, we can transform genetic services and care for patients and families. Our Care Reimagined campaign will help fund critical components of the Precision Medicine Initiative.

I encourage you to join us by thoughtfully considering a gift to our Care Reimagined campaign. Through this campaign, you will break down barriers for children and adults who are uninsured or underinsured. Your support will enable us to diagnose patients who have already had “every test in the book.” Your support will identify new treatments for patients based on understanding the impact of their specific genetic variant. You will change lives.

Together, we can ensure our patients and their families experience the life-changing care they deserve.

With Utmost Gratitude,

Steven A. Skinner, MD

Steven A. Skinner, MD Director, Greenwood Genetic Center

THE JOURNEY AHEAD

out an accurate diagnosis, cures are out of reach.

The GGC has special expertise in rare diseases. There are over 7,000 rare diseases, and most are genetic with onset during childhood. Although each individual rare disease is uncommon, collectively, 25-30 million individuals in the United States are affected by a rare disease. Too often, individuals with rare genetic diseases endure a long diagnostic odyssey consisting of countless visits with different healthcare providers and seemingly endless blood draws and tests over many years before a diagnosis is made. Even when a diagnosis is made, it may be incomplete or inaccurate.

An accurate diagnosis is life-changing. Just ask a GGC parent whose child was diagnosed through newborn screening. That early diagnosis led them to GGC’s Metabolic Treatment Program where they receive treatment and ongoing management that can prevent symptoms from ever occurring. When we make all genetic diagnoses earlier, we will have a better opportunity to identify appropriate treatment options, discover novel therapies, and intervene sooner leading to a better outcome and improved quality of life for all patients.

The ability to accurately diagnose patients with rare genetic diseases has improved significantly due to the availability of advanced genomic testing. However, many individuals still remain undiagnosed. An accurate diagnosis can guide and improve medical management, provide information about long-term health and developmental outcomes, connect families with appropriate support and resources, and provide information about the chance for the condition to recur in other family members. Increasingly, the identification of a precise genetic diagnosis can lead to the treatment of the underlying genetic cause. The earlier the treatment can be started, the more likely the treatment will be effective, especially for young children.

Care Reimagined improves the availability and access to these life-changing genetic services for those in need. Care Reimagined will enable the use of innovative genetic technologies, sophisticated data analysis, and cutting-edge personalized treatment strategies to improve the quality of life for our patients and their families.

Care Reimagined transforms the delivery of genetic services by integrating a patient’s personal genomic data with their individual care. We believe that everyone with a genetic disorder deserves access to affordable, personalized, and precise healthcare.

CARE REIMAGINED CONSISTS OF FOUR DISTINCT, YET COHESIVE PILLARS:

1. ACCESS

The most advanced technologies and treatments are inaccessible if the patient who needs them cannot afford them.

2. ANALYSIS

3. ANSWERS

Patients with rare diseases wait an average of five to seven years for a correct diagnosis. This is unacceptable.

4 PILLARS

As powerful as current technologies and techniques are, mysteries remain and diagnoses are still unknown.

4. ACTION

We have an answer! Now what?

WHAT MAKES THE GGC’S DELIVERY OF SERVICES UNIQUE?

From its founding 50 years ago as an independent genetics institute with both public and private funding sources, the Greenwood Genetic Center has always done things a little differently. Care Reimagined is no exception. The Center’s commitment to providing access to high-quality patient care and state-of-the-art technologies stands as the cornerstone of our compassionate model of care.

Care Reimagined highlights the unique abilities of the GGC to integrate our divisional core strengths for the benefit of each patient. The collaborative nature of our Center and our culture of care and compassion permeates everything we do. From clinicians to diagnosticians to researchers, our entire faculty and staff are dedicated to patient care and work in concert for the good of our patients and their families - working to improve the quality of life for those impacted by genetic disease while continuously expanding our knowledge for the benefit of patients in South Carolina and beyond.

$7 million care reimagined WILL REVOLUTIONIZE CARE AS WE KNOW IT.

Increase access to genomic testing and services for South Carolinians.

“I can say without a doubt that Quinn would not be where he is today had the Greenwood Genetic Center not armed us with the knowledge and support we need to help him thrive.”

Nicole Blowers, mom to Quinn, 4

GGC CARES FUND

The costs of accessing genetic services can be as high as $10,000 per test. Some of these tests are not covered by health insurance.

Fewer than 5% of rare genetic disorders have treatments or therapies available that address the underlying cause of their disorder. Even when a treatment is available, it may not be covered by commercial insurance companies or Medicaid.

Everyone deserves access to quality care and available treatments. That is how your investment in the GGC Cares Fund steps in to help patients. The GGC Cares Fund is our way of ensuring that patients receive the care they need without having to worry about the cost. The GGC Cares Fund provides financial assistance for genetic testing, consultations, and treatment for patients and families who cannot afford them.

when care is reimagined, THERE WILL BE NO COST BARRIERS FOR OUR PATIENTS TO ACCESS GENETIC TESTING AND SERVICES.

Generate and analyze genomic data.

“After four years, two stillborn daughters, and no answers, we finally have our son thanks to the hard work of the GGC lab. Thank you for making our family possible.”

Hannah Larson, mom to Ford, 13 months 6;14 translocation and deletion

INNOVATION INITIATIVE

Even with the most comprehensive and sophisticated genetic testing available today, we are still only able to diagnose 50-60% of the patients we evaluate. That means annually approximately 2,500 patients seen at GGC remain without a diagnosis. Fortunately, with rapid advancements in technologies, the ability to analyze data more efficiently, and the explosion of new knowledge and understanding of the genome, there is a promising future for patients to receive a complete genetic diagnosis for their condition.

The Innovation Initiative at the GGC is the “proving ground” for new technologies and bioinformatic approaches when currently available tests fall short of making a diagnosis. This crucial initiative addresses the challenge of how to identify, adopt, and implement the most promising new technologies, as well as improve upon both existing technologies and the management of genomic data.

Your investment in our Innovation Initiative enables us to equip our team with cutting-edge tools and resources to drive creative solutions.

Our commitment to using the most advanced technologies available continues to be at the forefront of everything we do. By accelerating the use of genomic technologies and genomic data analysis today, we will improve lives now and into the future.

when care is reimagined,

THE INNOVATION INITIATIVE UNLOCKS HIDDEN GENOMIC SECRETS THAT LIE WITHIN LARGE DATA SETS, GIVING FAMILIES THE ANSWERS THEY NEED AND DESERVE.

ANSWERS

Diagnose each patient in a timely manner and identify potential treatments.

$3 MILLION

“Knowing the cause of Emily’s microcephaly has allowed us to understand her condition better, and we were also relieved to discover that this mutation was not inherited. By confirming this mutation as the cause for Emily’s condition, we can grow our family without the worry of passing these challenges on to another child.”

Matt and Jamie Powell, parents to Emily, 7 LMNB1-related microcephaly

GENOMIC DISCOVERY PROGRAM (GDP)

After all of our clinical tests have been exhausted and a patient still does not have an answer, the patient has an opportunity to be enrolled in the Genomic Discovery Program (GDP). This new innovative program will provide a powerful framework to identify accurate and complete diagnoses for these individuals.

The GDP was launched in 2023 by a multidisciplinary team of faculty across all GGC divisions. The GDP enrolls patients into one of three tracks: a Discovery track, a Resolution track, and a Treatment track.

DISCOVERY TRACK

The team reviews undiagnosed cases to determine the best approaches and research-based genetic technologies to use in order to find the answer.

RESOLUTION TRACK

The team develops workflows and conducts experiments that confirm diagnoses when the genetic testing result is uncertain.

TREATMENT TRACK

Once a confirmed diagnosis is made, the team explores novel treatments and aims to connect patients with existing therapies.

The number of patients that can be enrolled in the GDP is currently limited by the number of personnel and resources dedicated to the Program. To overcome this limitation, we require $600,000 annually for five years as an initial investment to build capacity to create a durable and strong foundation. The funds will be used to recruit and support top-tier researchers, clinicians, and bioinformatics specialists with the necessary resources and cutting-edge technologies to provide critical services to families in need. With your investment, the GDP will triple the number of patients that can be enrolled and continue positively impacting the lives of those we serve for years to come.

when care is reimagined, RESEARCHERS TAKE A DEEPER DIVE TO BETTER UNDERSTAND THE CAUSE OF A PATIENT’S GENETIC DISORDER.

Lead patients to a treatment or therapy for their genetic condition. PRIORITY

Not all diseases are easy to see. This research will help me and others like me hopefully have hope for a cure down the road.”

Brody Baker, 12 Charcot-Marie-Tooth

THERAPEUTIC RESEARCH & DEVELOPMENT FUND

A critical role for the GGC is the Ravenel Boykin Curry Endowed Chair for Genetic Therapeutics. Your investment in the Therapeutic Research & Development Fund will equip the Ravenel Boykin Curry Endowed Chair for Genetic Therapeutics and current researchers with the resources needed to make an immediate impact on our patients.

By better understanding the genetic underpinnings of disease, we can work towards developing more effective therapies and possibly even prevent certain conditions from being passed down to future generations. Developing a new drug or treatment for patients can take a total of 10-15 years on average, and our patients cannot wait that long. The Therapeutic Research & Development fund will focus on developing clinical trials to deliver treatments now to GGC patients. In the short-term, our initial clinical trials would deliver repurposed FDA-approved drugs and over-the-counter supplements to our patients now.

As we continue to push the boundaries of genomic technologies and novel treatments, it is important to remember that the benefits extend far beyond just the short-term. While there may be immediate advantages to these advancements, such as more accurate diagnoses and personalized treatment plans, the ultimate win is for the patient and their family in the long-term. Every patient and family deserves the best possible outcome, both now and in the future.

when care is reimagined,

MEDICAL PROFESSIONALS PROVIDE MORE PRECISE MANAGEMENT AND TREATMENT OF GENETIC DISORDERS BECAUSE THEY HAVE CLARITY IN THE CONDITION BEING ADDRESSED.

GGC ENDOWMENT

The GGC Foundation Endowment will help us to continue our vital work in researching and treating genetic disorders, as well as providing support and resources to patients and their families. With your philanthropic contribution to the GGC Endowment, you are investing in the lives of thousands of patients who will be evaluated and treated at the GGC in the next 50 years and beyond. Gifts can be made to the endowment through outright gifts or bequests.

BUILDING FOR THE NEXT AND BEYOND!

50 years

MANY THANKS

Board of Trustees.

Mark Askew

Dell Baker

Helen Campbell

Vickie Chandler

Christen Ashley Davis

R. Thornwell Dunlap, V. (Wells)

Megha Lal

John A. Miller, Jr.

Julian J. Nexsen, Jr.

Ted Pitts

Arthur Radcliffe

Claude Robinson

Kay Self

Chris Singleton

Tara Smith

Tommy Plumer

Jimmell Felder, MD

Erin Layland

Ray Wilson, PhD

Steven A. Skinner, MD

Ex Officio

Helen Campbell

Cecily Hughes, MD

Campaign Advisors

Kathryn Kissam

Floyd Nicholson

John McAlhany, PhD

Foundation Staff

Amy Botts

Foundation Coordinator

Boo Ramage

Director of Philanthropic Services

Cady Nell Keener

Executive Director of the GGC Foundation

WAYS TO GIVE

We invite you to be a part of our journey. When you choose to support the a campaign, you are investing in transformational care for patients and families with genetic disorders.

GIFTS CAN BE MADE IN A VARIETY OF WAYS:

• ONLINE AT https://ggc.org/foundation

• BY CHECK MAILED TO 101 Gregor Mendel Circle, Greenwood, SC 29646

• Planned gifts and bequests

• Securities and stock transfers

• Matching gifts through your employer

• In addition to one-time gifts, we welcome pledges of support that can be given over time.

This is a most exciting time to be in the field of genetics - at the cusp of a new era of diagnostics and treatment. On behalf of our entire faculty and staff, the thousands of patients served by GGC each year, and the countless lives that will be transformed by this work, we thank you for consideration of joining us in this effort.