Published on May 8, 2020
Imagine being able to detect a disease like cancer in its initial stages with a simple blood test.
The idea is not that far-fetched—or far off.
Adaptive Biotechnologies, a pioneer in immune-driven medicine, and Microsoft, a leader in computer software, are working to create an antigen map, using DNA sequencing and machine learning to map the unique genetic code of T-cell receptors (TCR) to the antigens they have recognized. Antigens are pieces of foreign substances that trigger the immune system to respond and protect the body from harm.
“Sequencing the immune system can reveal what diseases the body currently is fighting or has ever fought,” wrote Peter Lee, the corporate vice president of Microsoft Healthcare, on the company’s website. “A blood sample, therefore, contains the key information needed to read what the immune system is currently detecting.”
The immune system responds to the presence of disease by producing special white blood cells called T cells and B cells, explained Dr. Lance Baldo, Chief Medical Officer for Adaptive Biotechnologies, in an interview with Patient Power.
One milliliter, or about 20 drops, of blood, contains about 1 million T cells. Each T-cell has a TCR, a corresponding surface protein, which has a genetic code that targets a specific antigen.
In his blog post, Lee likened the antigen map to an “X-ray of the immune system.”
“Essentially, the state of the immune system tells a story about virtually everything affecting a person’s health,” he wrote. “It may sound like science fiction, but what if we could ‘read’ this story?”
A Partnership for Progress
Adaptive and Microsoft announced their partnership in early 2018. Adaptive’s immunoSEQ technology is sequencing the TCR gene that encodes each T cell’s specific antigen while Microsoft’s machine learning technologies are translating the sequences to the antigens they recognize. The goal is to translate the genetic code of the body’s immune system into simple blood-based diagnostics.
“Some conditions like cancer or autoimmune disorders can be difficult to diagnose,” said Chad Robins, President, CEO and Co-Founder of Adaptive Biotechnologies, in a press release announcing the partnership. “But this universal map of the immune system will enable earlier and more accurate diagnosis of disease, potentially helping physicians to connect the dots to understand the relationship between disease states and eventually lead to a better understanding of overall human health.”
Benefits of Early Detection
In cancer, where early detection is key, being able to diagnose through a simple blood test could be a game-changer. For example, most patients with pancreatic cancer don’t exhibit any symptoms in the early stages. It tends to be discovered in later stages when a patient has abdominal pain, jaundice and weight loss. This means the cancer has already spread and can no longer be removed by surgery.
Similarly, ovarian cancer is often not diagnosed until it has spread to the pelvic and abdomen when it is more difficult to treat.
The initial goal is to sequence the T-cell repertoires of thousands of individuals to support the development of diagnostics in three disease categories: oncology (ovarian and pancreatic cancers); autoimmune disease (type 1 diabetes and celiac); infectious disease (Lyme disease and COVID-19); and other diseases that are difficult to pinpoint and need a blood-based diagnostic.
“The long-term vision is to have the blood test become a routine part of an annual physical exam with the hope that we can detect many different diseases all at the same time,” Baldo said.
He said the blood screening may be offered initially to those who are at higher risk of a disease because of genetics or recurrence risk.
The limited scope of diseases targeted comes from the enormity of the task.
“The human immune system is orders of magnitude larger than the human genome,” Baldo said. “To give a sense of scale, in a healthy adult alone, there are over 100 million genes in our immune system versus an estimated 30,000 genes in the human genome. While the scale of the adaptive immune system is orders of magnitude greater than our genome, advances in DNA sequencing and machine learning have made the task possible in a reasonable timeframe.”
The complexity of mapping 100 million genes makes it difficult to predict when researchers will achieve their goal. However, they have made considerable progress.
“We’ve solved the mystery of how to read and translate the diverse genetic code of the immune system using the immunosequencing technology that we pioneered,” Baldo said. “Now we are teaching and training our technology to crack the code on many different diseases, including cancer, autoimmune disorders and infectious disease. We are already seeing results in Lyme disease and will hope to have our first approved test in 2021.”
Please remember the opinions expressed on Patient Power are not necessarily the views of our sponsors, contributors, partners or Patient Power. Our discussions are not a substitute for seeking medical advice or care from your own doctor. That’s how you’ll get care that’s most appropriate for you.
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