New technology detects breast cancer relapses up to five years in advance

Altum Sequencing, a start-up supported by the C3N-IA Science Park at Universidad Carlos III de Madrid (UC3M) and specialized in oncology, has developed a tool to monitor treatment response in patients with solid tumors from a simple blood sample. This advance could represent a turning point in post-treatment follow-up.

The study detailing the effectiveness of this system, recently published in the journal Breast Cancer Research, explains that although many patients with HR+ breast cancer (the most common subtype among women) initially respond well to therapy, up to 40% of them relapse over time.

However, through the technology developed and the analysis of circulating tumor DNA (a type of tumor-derived DNA that can spread to the blood), the researchers have been able to anticipate the onset of clinical relapses up to 68 months before symptoms detectable by traditional methods become apparent.

“Our goal is not to diagnose cancer, but to provide physicians with an effective tool to monitor the evolution of the disease after treatment,” explains Joaquín Martínez-López, president of Altum Sequencing. “Current diagnostic tools have sensitivity limitations, which makes early detection of these relapses difficult, but thanks to NGS (next generation sequencing) DNA sequencing technology, we can detect one tumor cell among a million healthy cells from a simple blood sample,” he adds.

The methodology used to detect relapses so early begins with an initial tumor biopsy. Next, patient-specific mutations are identified. This is followed up by blood tests looking for traces of these mutations in circulating tumor DNA.

“The advantage of our technology is that it is very minimally invasive, versatile and tailored to each tumor type. In addition, the cost is significantly reduced by focusing only on mutations relevant to each patient. This also allows us to avoid unnecessary treatments and minimizes the risk of false positives,” adds Marina Planas, CEO of Altum Sequencing.

The potential of this innovation goes beyond breast cancer, as the technology is applicable to any type of solid tumor. The researchers are therefore working to obtain the necessary regulatory approvals in both Europe and the United States with the aim of making this tool available in hospitals around the world.

“We started with hematological cancers such as multiple myeloma and acute myeloid leukemia, but we are already seeing good results in lung cancers as well, so our goal is to transform cancer monitoring. Today, we can detect one cell in a million. In the future, it will be one in 10 million,” concludes the CEO.

The company plans to advance the integration of emerging technologies with the implementation of generative artificial intelligence throughout this year. After incorporating machine learning algorithms into its processes, its goal now is to use this new technology to improve diagnostic accuracy, optimize the adaptation of treatments and provide more useful and personalized information to patients.

Altum Sequencing, a start-up supported by the C3N-IA Science Park at Universidad Carlos III de Madrid (UC3M) and specialized in oncology, has developed a tool to monitor treatment response in patients with solid tumors from a simple blood sample. This advance could represent a turning point in post-treatment follow-up.

The study detailing the effectiveness of this system, recently published in the journal Breast Cancer Research, explains that although many patients with HR+ breast cancer (the most common subtype among women) initially respond well to therapy, up to 40% of them relapse over time.

However, through the technology developed and the analysis of circulating tumor DNA (a type of tumor-derived DNA that can spread to the blood), the researchers have been able to anticipate the onset of clinical relapses up to 68 months before symptoms detectable by traditional methods become apparent.

“Our goal is not to diagnose cancer, but to provide physicians with an effective tool to monitor the evolution of the disease after treatment,” explains Joaquín Martínez-López, president of Altum Sequencing. “Current diagnostic tools have sensitivity limitations, which makes early detection of these relapses difficult, but thanks to NGS (next generation sequencing) DNA sequencing technology, we can detect one tumor cell among a million healthy cells from a simple blood sample,” he adds.

The methodology used to detect relapses so early begins with an initial tumor biopsy. Next, patient-specific mutations are identified. This is followed up by blood tests looking for traces of these mutations in circulating tumor DNA.

“The advantage of our technology is that it is very minimally invasive, versatile and tailored to each tumor type. In addition, the cost is significantly reduced by focusing only on mutations relevant to each patient. This also allows us to avoid unnecessary treatments and minimizes the risk of false positives,” adds Marina Planas, CEO of Altum Sequencing.

The potential of this innovation goes beyond breast cancer, as the technology is applicable to any type of solid tumor. The researchers are therefore working to obtain the necessary regulatory approvals in both Europe and the United States with the aim of making this tool available in hospitals around the world.

“We started with hematological cancers such as multiple myeloma and acute myeloid leukemia, but we are already seeing good results in lung cancers as well, so our goal is to transform cancer monitoring. Today, we can detect one cell in a million. In the future, it will be one in 10 million,” concludes the CEO.

The company plans to advance the integration of emerging technologies with the implementation of generative artificial intelligence throughout this year. After incorporating machine learning algorithms into its processes, its goal now is to use this new technology to improve diagnostic accuracy, optimize the adaptation of treatments and provide more useful and personalized information to patients.