Prevention and Early Detection for Hereditary Cancer Syndromes


For multiple hereditary cancer syndromes, genetic testing can identify individuals at high risk of cancer who may benefit from specialized prevention, screening, or treatment. Likewise, genetic testing may help guide the future medical care of family members. Unfortunately, many individuals lack access to genetic testing and counseling.

This underuse of genetic testing and counseling is a missed opportunity to identify individuals and their family members who are at increased risk of cancer and who can benefit from cancer screening and preventive interventions.

Research Opportunities

Currently, there is a need for nationwide efforts to identify individuals with hereditary cancer syndromes, and to determine and implement optimal intervention strategies to reduce the risk of developing cancer and improve screening in order to improve cancer outcomes.

Although genetic counseling and testing for inherited cancer syndromes is available as part of regular clinical practice, it is underused. Technological advances have helped to improve the efficiency of testing by reducing costs and shortening the wait time for receiving results. However, other barriers to widespread use of testing also should be addressed. The Cancer MoonshotSM Blue Ribbon Panel Report, published in October 2016, identified clinical and research opportunities to improve prevention and patient outcomes, and it has recommended demonstration projects related to cancer genetic testing.

The identification of individuals who may have a hereditary cancer syndrome would allow for the delivery of evidence-based genetic counseling, appropriate preventive and early detection services, and ongoing surveillance through public health programs, leading to improved health outcomes for patients.

Individuals identified as having a hereditary cancer syndrome could take part in research studies to promote a better understanding of biological mechanisms that drive tumor development and progression, the identification of novel biomarkers, and improved risk modeling. Identification of high-risk individuals would enable smaller, faster trials of preventive intervention in individuals who have inherited a mutation in their DNA that is associated with an increased risk of cancer.

Implementation science research is particularly needed to find effective ways of improving rates of uptake of cancer prevention and screening programs in populations with greatest need, such as those experiencing cancer health disparities.