About one in 10 people in the United States will develop cancer due to a hereditary predisposition. A hereditary predisposition is an increased risk of cancer due to presence of cancer in multiple family members or due to the inheritance of a cancer-causing gene mutation. People susceptible to hereditary cancer are at a very high risk of developing malignancy, often at an early age. Family history collection has been universally recommended as the best way to identify those at risk of hereditary cancer. However, doctors often do not adequately collect and act on family history information such that as few as 5 percent of people at risk of hereditary cancer are identified, and as few as half of them receive recommended preventative health care that can lower their chance of developing or dying from cancer. Our study aims to solve this problem and find the best approach for family history collection (to identify individuals at risk of hereditary cancer) and for provision of follow-up care for those at risk.
We propose a large (18,000-person), randomized trial to compare three methods to identify individuals at risk of hereditary cancer and provide them with the recommended follow-up care. The trial will take place in a large healthcare system with members who are diverse in their age, race, ethnicity, income, and residence (i.e., urban versus rural). We will compare the following: (1) physician collection of family history information and physician provision of follow-up care (usual care); (2) patient completion of online prediction models that numerically estimate cancer risk based on select family history information, with follow-up care that is coordinated by a genetic counselor and nurse practitioner team; and (3) online patient completion of a detailed three-generation family history (pedigree), along with follow-up care that is coordinated by a genetic counselor and nurse practitioner team.
When the study ends, we will better understand the strengths and weaknesses of each method and which is best in terms of benefits and harms that are important to patients. We will learn which method best identifies people at risk of hereditary cancer, what patients think about each method, how each method impacts follow-up care that can reduce or prevent cancer mortality, how many healthcare resources are used in each method, and what is needed to spread these interventions to other health systems.
Our study uses a patient-centered research design: (1) The compared methods of family history collection and care coordination are the best available. (2) Stakeholder partners have been instrumental since study inception; they are crucial to the conduct of the study and dissemination of the study results through a Stakeholder Advisory Board. The advisory board includes patients, patient advocacy groups, academic researchers and clinicians, community-based providers, national professional societies, individual healthcare systems and insurance representatives, healthcare networks, public health agencies, and industry representatives. This advisory board will help make the study and its results relevant to a wide audience. (3) This study is focused on questions and outcomes of interest to patients, families, and other healthcare stakeholders. Identifying and providing appropriate follow-up care to the large number of people (about one in 10 Americans) at risk for hereditary cancer is an important healthcare goal. PCORI, the National Academy of Medicine, and the Cancer Moonshot have all called for improving prevention and early detection of cancer; our study attempts to accomplish this goal.
*All proposed projects, including requested budgets and project periods, are approved subject to a programmatic and budget review by PCORI staff and the negotiation of a formal award contract.