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Cancer Detection and Diagnosis Research

Cancer diagnosis has long relied on the microscopic examination of cells to see if they have the appearance of cancer cells.

Credit: iStock

The Importance of Cancer Detection and Diagnosis Research

Cancer detection and diagnosis involves identifying the presence of cancer in the body and assessing the extent of disease—whether it is the initial diagnosis of a cancer or the detection of a recurrence. For some cancers, this definition can be expanded to include identifying precancerous lesions that are likely to become cancer, providing an opportunity for early intervention and preventing cancer altogether.

Unfortunately, effective screening tests for early detection do not exist for many cancers. On the other hand, studies have strongly suggested that, in addition to benefits, screening has downsides. There is the risk of overdiagnosis and overtreatment—detecting and treating people for cancers that would not threaten life or cause symptoms. Overdiagnosis means that patients are exposed unnecessarily to the potential physical harms of unneeded and often invasive diagnostic tests and treatment, as well as to the psychological stresses associated with a cancer diagnosis.

Early detection is a proven strategy for saving lives from cancer. Some patients whose cancers are detected and treated early may have better long-term survival than patients whose cancers are not found until symptoms appear.

Once the presence of cancer is verified, diagnostic tools that identify specific molecular abnormalities in tumors are also important in the context of precision medicine. With this information, doctors can determine whether a patient may be a candidate for a specific therapy.

NCI supports a broad portfolio of research aimed at improving the detection and diagnosis of cancer and its precursors. This research includes studies to improve the early detection of cancer and to accurately assess how likely it is that a precancerous growth will progress to life-threatening disease.

NCI funding has contributed to many major advances in cancer detection and diagnosis. For example:

The Future of Cancer Detection and Diagnosis Research

NCI-funded research is fueling the development of innovative technologies that will change cancer detection and diagnosis in the future. Someday, a simple blood draw (a liquid biopsy) in a doctor’s office may be used to detect, diagnose, and monitor many types of cancers. In addition, imaging technologies, coupled with artificial intelligence, may be able to identify the presence, type, stage, and major genetic features of a cancer without the need for an invasive biopsy.

Expanding the ability to identify precancerous lesions that are destined to become life-threatening cancers would provide the opportunity for early intervention to prevent cancer from developing altogether. Accurately identifying abnormal growths that will not progress to potentially fatal cancers would spare patients the physical and financial harms of unnecessary treatment and the psychological harms of a cancer diagnosis.

Additional research will enable the development of more-sensitive, accurate, and cost-effective methods of detecting, diagnosing, and, in some cases, preventing cancer in the future.

NCI’s Plan for Cancer Detection & Diagnosis­ Research

NCI prepares an Annual Plan & Budget Proposal for the President and Congress that describes the Institute’s scientific priorities and promising opportunities from across the research continuum. Included in the plan is the following strategic vision and approach for improving cancer detection and diagnosis.


Fewer people will suffer and die from cancer because we can detect and diagnose its precursors or the disease itself at the earliest possible stage.


Advances in biomedical technologies are enabling the development of new tools for cancer detection and diagnosis. Our goals include the following:

1) Improve current methods and develop new methods of detecting cancer and its precursors

NCI’s investments in this area include developing new or improved detection and diagnosis methods that are more accurate and of greater clinical utility than those available today and optimizing the use of proven methods by physicians and health care systems. In addition, producing cost-effective technologies and tests that can be used in all resource settings is essential. NCI’s major objectives include:

  • Improving current cancer imaging technologies to enhance their ability to detect cancer or its precursors at the earliest possible stage
  • Developing and testing new technologies that will enable the identification of cancerous and precancerous cells at the molecular level and provide information about their biological activity
  • Finding novel ways to combine technologies to enhance cancer detection and diagnosis
  • Developing and refining noninvasive tests for the early and accurate detection and diagnosis of cancer

2) Identify and validate new biomarkers that can be used for the early detection and diagnosis of cancer and its precursors

The use of tumor biomarkers (specific proteins or other molecules in tumor specimens) and imaging biomarkers (radioactive substances taken up by tumors and visualized through PET scans) is widespread in oncology. NCI’s objectives in developing additional biomarkers include:

  • Identifying novel biomarkers, such as changes in cellular metabolites measured in exhaled breath
  • Identifying and validating new types of blood-based biomarkers, such as cell-free DNA fragmentation patterns
  • Identify new types of tissue-based biomarkers based on differences in the electrical or mechanical properties of cells or tissues