Prevention and Early Detection for Hereditary Cancer Syndromes


The Cancer Moonshot℠ Blue Ribbon Panel Report, published in October 2016, identified clinical and research opportunities to expand use of proven cancer prevention and early detection strategies to improve patient outcomes and has recommended projects related to cancer genetic testing (Recommendation G).

There are more than 50 known hereditary cancer syndromes; however, testing for these syndromes in appropriate populations remains a vastly underused cancer prevention strategy. Many individuals at risk for cancer lack access to genetic screening and preventative approaches due to cost, geographical location, or lack of understanding about these strategies. By improving the availability and uptake of testing by individuals and families at high-risk for cancer, significant improvements can be made in the prevention and early treatment of inherited cancer syndromes.

This recommendation supports research to develop, test, and implement evidence-based strategies to identify those at risk for inherited cancer syndromes and implement appropriate clinical management. Studies are needed to improve access to genetic counseling and testing, risk communication and clinical decision-making, and appropriate follow-up care for the prevention and early detection of inherited cancer syndromes.

The ultimate goal of this research is to develop effective cancer prevention and early detection approaches for individuals at high-risk for inherited cancer.

Approaches to Identify and Care for Individuals with Inherited Cancer Syndromes

Research projects focusing on approaches to identify and care for individuals with inherited cancer syndromes aim to increase the identification of cancer, improve follow-up care, and enhance the delivery of evidence-based care for individuals at high-risk for cancer. Projects that received funding from NCI are developing and testing innovative approaches for preventing and detecting cancer in individuals with inherited cancer syndromes, as well as studying the implementation of different strategies across a variety of clinical care settings and diverse populations.

Current projects were funded in response to the following Notice(s) of Funding Opportunities (NOFOs):

Communication and Decision-Making for Individuals with Inherited Cancer Syndromes

Research projects focusing on communication and decision-making for individuals with inherited cancer syndromes aim to develop, test and evaluate interventions and implementation approaches, or adapt existing approaches to improve patient/provider/family risk communication and clinical risk management decision making. Projects may include a variety of clinical care settings, genetic counseling and testing methods, and ethnically, socioeconomically, and geographically diverse populations. The goal of these studies is to improve understanding and communication of genetic risk and clinical management decision making for individuals who have a genetic susceptibility to cancer.

Current projects were funded in response to the following NOFOs:

Funded Projects

NOFO Project Title Institution Principal Investigator(s)

Approaches to Identify and Care for Individuals with Inherited Cancer Syndromes



Leveraging an Electronic Medical Record Infrastructure to Identify Primary Care Patients Eligible for Genetic Testing for Hereditary Cancer and Evaluate Novel Cancer Genetics Service Delivery Models

University of Utah

Buys, Saundra S; Ginsburg, Ophira; Kaphingst, Kimberly A

Implementing the moon: Getting genomic testing to the public

University of Washington

Bowen, Deborah J; Swisher, Elizabeth Mary

Randomized trial of universal vs. guideline-directed germline testing among young adults with cancer

University of Pennsylvania

Nathanson, Katherine L; Joffe, Steven 

Improving identification and healthcare for patients with Inherited Cancer Syndromes: Evidence-based EMR implementation using a web-based computer platform

Vanderbilt University Medical Center

Wiesner, Georgia L; Orlando, Lori Ann

Innovative Approaches to Expand Cancer Genetic Screening and Testing for Patients & Families in a Statewide Oncology Network through Community, State, & Payer Partnerships

University of Michigan at Ann Arbor

Stoffel, Elena Martinez; Resnicow, Kenneth

Evaluation of Population Based Testing for HBOC and Lynch Syndromes

Oregon Health & Science University

Spellman, Paul; Shannon, Jackilen

Communication and Decision Making for Individuals with Inherited Cancer Syndromes

The AYA-RISE Intervention: Risk Information and Screening Education for Adolescents and Young Adults with Cancer Predisposition Syndromes

Dana-Farber Cancer Inst

Mack, Jennifer W

A Randomized Hybrid Type 1 Effectiveness-Implementation study of an Ehealth delivery alternative to cancer genetic testing for hereditary cancer predisposition (eREACH)

University of Pennsylvania Bradbury, Angela

A Population-Based Virtual Solution to Reduce Gaps in Genetic Risk Evaluations and Management in Families at High Risk for Hereditary Cancer Syndromes: The Georgia-California GeneLINK Trial

University of Michigan


Katz, Steven

Development and Implementation of Electronic Decision Aids for Genetic Testing in Inherited Cancer Syndromes

Massachusetts General Hospital Chung, Daniel

Improving Care After Inherited Cancer Testing (IMPACT) Study

Vanderbilt University Medical Center     Pal, Tuya

Prospective Trial of a Linguistically and Culturally Appropriate Mainstreaming Model for Hereditary Cancer Multigene Panel Testing Among Diverse Cancer Patients

Sloan-Kettering Institute for Cancer Research Hamilton, Jada

Active Funding Announcements

There are currently no Cancer Moonshot NOFOs accepting applications for research related to prevention and early detection for hereditary cancer syndromes; however, investigators with relevant research ideas may wish to submit applications in response to the following NOFOs.

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Last Updated
June 22, 2023