Diagnostics & Biomarkers

Accelerating Improvements in Disease Detection

Fred Hutch researchers have been contributing to advances in diagnosis and screening for cancer and other diseases, particularly since the advent of DNA sequencing and other data-intensive techniques. Their insights and discoveries are not only making diagnosis more accurate and less expensive, but they are helping to refine standards for who should be screened and when, who should start aggressive treatment and who might benefit from “watchful waiting.”

Exciting frontiers in diagnostics research include work toward detecting and analyzing cancer through blood tests — rather than biopsies, which can be invasive and risky — as well as blood tests for predicting the best treatment choices for a given patient. Many of our researchers are investigating potential biomarkers of specific diseases, including genes or proteins that are leaked by tumors into blood and urine. We are also developing new statistical and analytical tools to identify and validate the best biomarkers for a given purpose.

Discovering Biomarkers for Detecting Cancer and Other Diseases

Biomarkers are signature molecules that can indicate the presence of cancer or disease. If they can be easily and reliably measured, they can facilitate accurate and cost-effective diagnosis, often far earlier in the progression of disease than would otherwise be possible. For example, elevated levels of a protein known as prostate-specific antigen, or PSA, in the blood may be an indicator of prostate cancer.

Fred Hutch labs are seeking biomarkers for a wide range of cancers and diseases, including ovarian cancer, which is most often diagnosed at a later stage, when survival beyond five years is rare; pancreatic cancer, which in its most common form is notoriously resistant to chemotherapy and is often diagnosed after the disease has spread; and lung cancer, which can be difficult to diagnose when imaging scans are inconclusive. This work is conducted in labs and research teams around campus. It is also conducted through nationwide research collaborations including the Early Detection Research Network, whose coordinating center is at Fred Hutch, along with EDRN-funded teams that are developing and validating biomarkers for breast, ovarian and gastrointestinal cancers. 

Dermcidin, a novel biomarker for breast cancer progression.
Dermcidin, a novel biomarker for breast cancer progression. Illustration by Wikimedia Commons

Using Biomarkers for Personalized Medicine

Fred Hutch researchers are at the forefront of precision medicine, developing new biomarker-based tests to determine the best treatment for each patient. For example, one research team has shown that many men with advanced prostate cancer have inherited genetic mutations that could make their cancers more vulnerable to certain drugs. The team is applying these findings to genetic counseling for prostate cancer patients and their family members.

But genetics only offers a tiny slice of information about a patient’s biology. Fred Hutch scientist Dr. Mandy Paulovich is a national leader in proteomics, the study of proteins, which perform most of the body’s functions and are the targets of most drugs. Her team and collaborators nationwide are developing technologies and strategies for studying, detecting and validating protein biomarkers to enable precision medicine for a variety of cancers.

Identifying Biomarkers for Risk Prediction

Our researchers are identifying biomarkers that can indicate an increased risk of cancer. Pinpointing who is most at risk for certain cancers can lead to better screening and prevention strategies, especially in combination with knowledge of other risk factors. In colorectal cancer, for example, our researchers are developing a risk-prediction model that combines an individual’s genetic data and risk factors to determine the age at which to start colorectal cancer screening. Our researchers are also studying biomarkers that could determine an individual’s risk of prostate cancer or breast cancer, among other diseases.

Dr. Olga Sala-Torra of the Radich Lab, whose team has developed a novel way to detect chronic myeloid leukemia in low-resource settings, using blood spots on a paper card.
Dr. Olga Sala-Torra of the Radich Lab, whose team has developed a novel way to detect chronic myeloid leukemia in low-resource settings, using blood spots on a paper card. Photo by Robert Hood / Fred Hutch

Making Diagnosis More Cost-Effective

Making diagnostic and screening methods easier, faster and less expensive is critical to achieving better outcomes for patients, particularly in low-resource settings. A team in Dr. Jerald Radich’s lab devised a low-cost, paper-based method for diagnosing chronic myeloid leukemia, with the goal of making it available in low- and middle-income countries. At the UCI-Fred Hutch Cancer Centre in Kampala, Uganda, our investigators are working with Ugandan scientists to identify biomarkers for breast cancer and Kaposi sarcoma to improve diagnosis in low-resource settings.

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