Liver – Ophiomics

Genomics and AI at the service of better hepatology solutions

Liver disease in the Era of Precision Medicine

Liver disease encompasses a range of conditions, including alcohol-associated liver disease (ALD), non-alcoholic fatty liver disease (NAFLD), and viral hepatitis, which can lead to severe complications such as cirrhosis and hepatocellular carcinoma (HCC). Globally, liver disease causes over 2 million deaths annually, accounting for 4% of all deaths (1 out of every 25), and being the 11th leading cause of mortality. Two-thirds of liver-related deaths occur in men . In the U.S. alone, the economic burden is significant, with chronic liver diseases and cirrhosis costs amounting to 32.5 billion dollars in 2016, with healthcare spending rising by 4.3% annually between 1996 and 2016. Additionally, liver diseases are often prevalent yet asymptomatic, frequently going undiagnosed for years until symptoms arise or an incidental diagnosis is made.

At Ophiomics, we are pioneering precision hepatology through advanced diagnostic and monitoring platforms. By harnessing the latest innovations, including AI-driven algorithms and biomarker discovery, we create tailored solutions that tackle the unique challenges of liver disease. With a deep understanding of the emerging challenges in hepatology, we use precision medicine to enable personalized approaches, allowing for patient-specific diagnostics and more effective monitoring of disease progression. Our mission is to drive better patient care by delivering transformative tools for the timely detection, monitoring, and management of liver conditions, ensuring better clinical outcomes and improved quality of life.

Liver cancer management

Liver cancer ranks as the 6th most common cancer and the 3rd leading cause of cancer-related death worldwide, claiming between 600,000 and 900,000 lives annually. In 2022 alone, 866.136 new cases of liver cancer were diagnosed, and 758.725 deaths occurred due to the disease. By 2040, liver cancer incidence is predicted to increase by 55% globally, with 1.4 million new cases, and mortality rates could rise by 56.4%, reaching 1.3 million deaths.

Hepatocellular carcinoma (HCC) accounts for 90% of liver cancer cases and for 75% of liver cancer deaths. Key risk factors for HCC include alcohol consumption, chronic infections with hepatitis B (HBV) or C (HCV), diabetes, and obesity linked to non-alcoholic steatohepatitis (NASH). Despite efforts to control viral hepatitis through HBV vaccination and HCV treatments, the growing prevalence of NASH-related cirrhosis is emerging as a significant driver of liver cancer cases.

Liver transplantation (LT) remains the most effective curative option for early-stage HCC patients and is the second most common solid organ transplantation globally. However, only a fraction of the global demand for liver transplants is met due to limited organ availability. As a result, strict and rigorous clinical criteria are required to better select patients that will benefit from this type of treatment.

HepatoPredict is an innovative medical decision tool aimed at determining the prognosis of HCC in the context of liver transplantation and other surgical approaches. In doing so, it helps medical teams make better decisions regarding patient selection for transplantation or patient monitoring strategies pre- or post-surgery. HepatoPredict is based on a machine learning algorithm that combines a gene expression signature from the tumor with clinical variables from the patient. It outperforms current clinical criteria, such as Milan and San Francisco (UCSF), in predicting recurrence following liver transplantation.Click on the image on the right to go to the HepatoPredict site.

Early detection of Liver Cancer

Liver cancer is the 6th most common cancer and the 3rd leading cause of cancer-related deaths worldwide. Hepatocellular carcinoma (HCC) is the most common form of liver cancer, accounting for 75-85% of cases, with 80-90% developing in individuals with liver cirrhosis. Only about one-third of HCC patients are eligible for curative treatments, as most diagnoses occur late when treatment options are limited.

To improve outcomes, early detection and chemoprevention are essential, particularly in cirrhotic patients who are already at heightened risk. Routine screening for HCC in cirrhotic patients typically involves ultrasound and serum alpha-fetoprotein (AFP) testing every six months. However, this approach has a sensitivity as low as 63%, highlighting the need for improved diagnostic strategies to enable timely interventions and enhance patient survival.

HepatoDetect is an innovative in vitro diagnostics medical device. It is based on a liquid biopsy and is aimed at early detection of liver cancer. It was developed for screening at-risk patients, like those suffering from liver cirrhosis, who have a significant probability of developing HCC, and to monitor HCC patients that have been subject to locoregional therapies, to surgical ressection or liver transplantation, who are at risk of a relapse.

Cirrhosis management

Liver cirrhosis develops when chronic liver disease causes severe scarring of the liver. It begins with an asymptomatic phase known as compensated cirrhosis, which can later progress into decompensated cirrhosis, characterized by complications related to portal hypertension and impaired liver function (ascites formation, portal hypertensive bleeding, hepatic encephalopathy, jaundice). Decompensation can occur acutely, requiring hospitalization, or progressively, being managed in outpatient settings. Regardless of how it manifests, mortality primarily occurs after decompensation.
Cirrhosis is the 9th leading cause of death in Europe, and the 15th leading cause of disability-adjusted life-years (DALYs) globally. In 2017 there were 112 million cases of compensated cirrhosis and 10.6 million cases of decompensated cirrhosis worldwide. Decompensation occurs at the rate of 4–12% annually, depending on the underlying disease etiology and the onset. Patients with decompensated cirrhosis have a 10-fold higher risk of mortality compared to the general population. Predicting the likelihood of decompensation is critical for effective clinical and therapeutical management.

Anticipating decompensation

Ophiomics is collaborating with several European clinical teams in the context of the EU-funded LEOPARD project (LEOPARD: Liver Electronic Offering Platform with ARtificial Intelligence-based Devices) in improving patient allocation and prioritisation for liver transplantation. A major aspect of this is the identification of patients at risk of acute decompensation.

MASLD

Metabolic dysfunction-associated steatotic liver disease (MASLD), formerly known as non-alcoholic fatty liver disease (NAFLD), represents a spectrum of progressive liver conditions linked to metabolic syndrome and obesity, culminating in fibrosis and cirrhosis.

MASLD is the most prevalent liver disease in high-income countries, affecting about 25% of the global adult population, with an estimated prevalence of 32.4% (24–48% in North America, 23–33% in Europe, and 28–32.4% in Asia). Significant liver fibrosis affects 5–7% of the general population and 17% of MASLD patients with type 2 diabetes. MASLD incurs substantial economic costs, amounting to $103 billion annually in the U.S. and €35 billion in Europe.

The burden of advanced MASLD is projected to double by 2030 due to rising metabolic risk factors such as diabetes, obesity, and population aging. Despite its clinical and economic impact, MASLD often remains undiagnosed until advanced stages, as most patients are asymptomatic. Early detection enables timely interventions and lifestyle adjustments, improving outcomes and preserving liver health.

MASLD blood biomarkers

We are developing a molecular test to assist early detection of MASLD and provide prognostic information based on a blood sample (liquid biopsy), aiming at routine use in primary care. More news soon.

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