Gene-ius Beginnings : The Brainiacs Behind the Genome

Every groundbreaking idea starts with a vision, and 3 Billion IO’s story is no different. The company was founded in 2016 as a spinoff from Macrogen, a leading South Korean genomic services company. (Macrogen)

The key figure behind 3 Billion IO is Dr. Changwon Keum, who serves as the CEO, brought extensive experience in genomics and bioinformatics to the table. Dr. Keum, who has a background in molecular biology, previously worked as team lead on various genomics projects at Macrogen. His expertise in genetic analysis and his passion for leveraging technology to solve real-world problems made him a perfect fit to lead 3 Billion IO. (Dr. Changwon Keum)

The idea for 3 Billion IO was born out of frustration with the slow and costly process of diagnosing rare diseases. Traditional methods often left patients in limbo for months, sometimes even years. The team recognized that by combining AI with whole exome sequencing (WES), time and cost of genetic testing could be significantly reduced. This led to the creation of 3 Billion IO, a company that now stands at the forefront of rare disease diagnostics.

Market on the Mend: How Genetic Testing is Healing the Future

Think genetic testing is just about ancestry? Think again. This booming industry is at the heart of personalized medicine, transforming how we diagnose and treat diseases.

The global genetic testing market is on an upward trajectory, projected to grow from $19.66 billion in 2024 to a staggering $32.83 billion by 2029 growing at a CAGR of 10.81%.. This growth is fueled by the increasing demand for early disease detection, personalized medicine, and the rapid advancements in genetic testing technologies like Next-Generation Sequencing (NGS) and PCR-based assays ​(Mordor Intelligence).

Diagnostic testing, which confirms the presence of genetic conditions, dominates the market. It’s critical not just for rare diseases but also for common conditions, such as cancer and cardiovascular diseases. The ability to identify genetic predispositions early allows for targeted treatment, making a significant difference in patient outcomes​.

In terms of technology, molecular testing leads the charge, driven by its versatility and precision. DNA sequencing, in particular, has become more accessible and affordable, expanding its use in both clinical settings and direct-to-consumer markets​.

Regionally, North America holds the largest market share, bolstered by a robust healthcare infrastructure and strong government support for genetic research. However, Asia-Pacific is the fastest-growing market, thanks to its large population base, rising awareness, and improving healthcare systems ​(Allied Market Research).

With such rapid growth, the genetic testing market is a critical component of modern healthcare. Companies in this space are continuously innovating, making genetic testing more comprehensive, accurate, and accessible to people around the world.

Mission Possible: Solving Rare Problems, One Gene at a Time

Mission: 3 Billion IO exists to provide fast, accurate genetic diagnoses for patients with rare diseases. The company is driven by the belief that everyone deserves access to precise genetic testing, which can dramatically improve health outcomes by reducing the time spent in diagnostic limbo. (About 3 Billion Io)

Vision: The company envisions a world where genetic testing is so efficient and accessible that no patient is left undiagnosed. They aim to make this vision a reality by continuously improving their diagnostic technologies and expanding their global reach.

Problems They Solve: The main problem 3 Billion IO addresses is the lengthy and often expensive process of diagnosing rare genetic diseases. Traditional methods can take months, leaving patients and their families in uncertainty. 3 Billion IO leverages cutting-edge technologies like AI and whole exome sequencing (WES) to significantly reduce this time, making accurate diagnoses more accessible to patients worldwide. Moreover, they offer continuous reanalysis of genetic data, ensuring that as new discoveries are made, undiagnosed cases are revisited for possible answers.

Business Model: 3 Billion IO operates by offering its genetic testing services to hospitals, clinics, and directly to patients across the globe. They’ve developed a suite of diagnostic tools, including their flagship products, 3B-GENOME and 3B-EXOME, which cater to the needs of healthcare providers and research institutions. Their business model revolves around providing high-precision, cost-effective testing services that can be integrated into existing healthcare systems worldwide. They also collaborate with various partners to enhance their offerings and extend their market reach​.

Gene Therapy: The Services Shaping Tomorrow’s Diagnostics

3 Billion IO’s products and services are setting new standards in the genetic testing industry, making complex diagnostics more accessible and accurate for those who need it most.

Cutting-edge Genetic Testing: 3 Billion IO offers a suite of advanced genetic testing services tailored for diagnosing rare diseases. Their flagship product, 3B-GENOME, is a whole-genome sequencing service that provides comprehensive genetic analysis, enabling the detection of a wide array of genetic disorders. This service is particularly valuable for patients with elusive conditions that have not been diagnosed through standard methods. (3B-GENOME)

Specialized Sequencing Services: Another key offering is 3B-EXOME, which focuses on whole exome sequencing (WES). This service is designed to analyze the coding regions of the genome, where most disease-causing mutations occur. It’s a faster and more cost-effective option for many healthcare providers, allowing them to pinpoint genetic mutations with greater accuracy​. (3B-EXOME)

Variant Interpretation Tools: 3 Billion IO also provides 3B-VARIANT and 3B-INTERPRETER. These tools enhance the accuracy of genetic variant interpretation, which is crucial for delivering precise diagnostic reports. 3B-VARIANT is an automated system that categorizes genetic variants according to their pathogenicity, while 3B-INTERPRETER assists clinicians in understanding the clinical significance of these variants. (3B-VARIANT) (3B-INTERPRETER)

Innovative Gene Browser: To further support patients and healthcare professionals, 3 Billion IO has developed a Gene Browser. This tool allows users to explore specific genes and variants, offering an interactive platform to connect with the latest genetic data. It’s a valuable resource for both clinicians and researchers, providing easy access to detailed genetic information​. (Gene Browser)

Sample Preparation and Reanalysis: The company’s services also include comprehensive sample preparation guidelines and a commitment to reanalysis. If initial results are inconclusive, 3 Billion IO reanalyzes the data as new genetic insights become available, ensuring that no patient is left undiagnosed​. (Sample Preparation)

The Gene Machine: Inside 3 Billion IO’s High-Tech Operations

3 Billion IO’s operational model is a blueprint for high-tech efficiency in the healthcare sector, specifically within the realm of genetic testing for rare diseases.

Streamlined Testing Process

3 Billion IO has developed a highly efficient process for genetic testing. This process begins with simple sample collection, typically using non-invasive buccal swabs. Once the sample is collected, it’s processed using advanced whole exome sequencing (WES) or whole genome sequencing (WGS) technologies. These methods allow the company to scan for over 20,000 genes and identify potential disease-causing variants, making the testing both comprehensive and precise.

Integrating Technology and Expertise

3 Billion IO leverages a robust technological framework to enhance the diagnostic process. At the core of their operations is the EVIDENCE system, an automated genetic variant interpretation platform that swiftly categorizes genetic variants by their pathogenicity, ensuring accurate diagnoses. This system, combined with 3Cnet, their advanced variant pathology prediction tool, sets a new standard for diagnostic precision. (EVIDENCE) (3Cnet)

Streamlined Patient and Provider Experience

From the initial test order to the final diagnosis, 3 Billion IO simplifies the genetic testing process. Healthcare providers can easily order tests through an online portal, and patients benefit from non-invasive sample collection kits, such as buccal swabs, which do not require blood draws. The company also emphasizes ease of access to medical geneticists, who are available to discuss test results and provide support, enhancing the overall experience for both patients and providers.

Winning Genes: 3 Billion IO’s Impact And Alliances

3 Billion IO has made a significant impact on the global market for genetic testing, particularly in diagnosing rare diseases. The company’s services are now utilized by over 400 institutions in more than 60 countries, helping to diagnose rare genetic disorders for over 45,000 patients​. (3 Billion’s Alliances)

Recognized for Innovation

3 Billion IO’s commitment to innovation has not gone unnoticed. The company has received multiple accolades, including being named one of the  2023 Korea AI startups 100 graduation companies and winning the Xcelerate Rare challenge, which is sponsored by Global Genes and Roche​. (Xcelerate Rare challenge)

The Diagnostic Odyssey Grant

One notable initiative is the ‘End the Diagnostic Odyssey Grant’ offered by 3 Billion IO. This grant program supports physicians and researchers with up to $1,000,000 in whole exome sequencing (WES) services. (End the Diagnostic Odyssey Grant)

Strategic Pharma Partnerships

3 Billion IO has strategically partnered with major pharmaceutical companies to enhance drug discovery efforts for rare diseases.  Through these collaborations, they leverage their advanced AI and genetic data to accelerate the identification of new drug candidates. It also extends the reach of 3 Billion IO’s cutting-edge diagnostic services, helping healthcare providers across the globe access the latest in genetic testing technologies. 

Gene Money: The Funding Fueling 3 Billion IO’s Success

3 Billion IO is a rising star in the genetic testing industry, having successfully secured multiple rounds of funding since its inception in 2016. These investments have propelled the company into the global spotlight, enabling it to expand its operations and enhance its innovative genetic testing solutions. (Tracxn)

Series A: July 11, 2018 – $2.7M

• Investors included The Wells Investment and the Korean Development Bank.

Series B: October 07, 2019 – $10.0M

• This round brought on board The Wells Investment, JW Asset Management, Shinhan Financial Group, AVentures Capital, D3 Jubilee Partners, Magna, Korea Development Bank Europe, and Yuanda Financial Holdings.

Series C: March 26, 2021 – $13.0M

• The Series C funding was led by a consortium of investors including JW Asset Management, Yuanta Investment, AVentures Capital, Kakao Investment, Magna, and Wells Investment​.

Each funding round has enabled 3 Billion IO to enhance its technological capabilities and increase its operational efficiency. The influx of capital has been instrumental in scaling up their testing capacity, expanding into new markets, and continuously improving their AI-driven platforms.

Genes of Inspiration: What 3 Billion IO’s Success Means

3 Billion IO is revolutionizing the way rare diseases are diagnosed.Through its innovative use of AI and comprehensive genetic testing services, the company has drastically reduced the time and cost of diagnosing rare genetic conditions. Their efforts have not only improved patient outcomes but have also provided hope to thousands of families searching for answers.

Their services are now accessible in over 60 countries, assisting numerous healthcare providers and impacting the lives of over 45,000 patients. The trust and support from major investors reflect confidence in the company’s vision and execution.

Are you sitting on a groundbreaking idea? Let 3 Billion IO’s story inspire you to take that leap! The road from idea to impact is paved with challenges, but as 3 Billion IO demonstrates, with the right mix of technology, expertise, and capital, even the loftiest goals are achievable.

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