|5U01CA243695-04 Interpret this number
|Massachusetts General Hospital
|Development and Implementation of Electronicdecision AIDS for Genetic Testing in Inherited Cancer Syndromes
The indications and demand for genetic testing in cancer care are rapidly growing. Hereditary cancer
syndromes are more common than previously appreciated, and genetic testing is standard of care to
establish these diagnoses. Genetic test results are also critical to guiding targeted therapies in patients
with established tumors such as ovarian and pancreatic cancer. Genetic counselors have traditionally
managed the testing process, but there is a critical shortage of counselors and they are not able to meet
the demand for testing. Without a genetic counselor, effective communication of testing options, outcomes,
and risks could be compromised. One of the most challenging decisions is the choice of gene panel. Multi-
gene panels are now the norm, but panels can include as few as 5 or as many as 125 genes. Panels can
include genes associated with a single tumor type or multiple tumor types, and genes with weaker evidence
for pathogenicity may also be included. There is no consensus on what constitutes an ideal panel, and
the choice of panel is therefore highly individualized. Innovative strategies to support patients facing these
time-sensitive and complex pre-test decisions are needed.
Decision aids are well-suited to address this challenge by providing education, facilitating the process of
informed choice, clarifying personal preferences, and promoting shared decision making. We propose to
develop an electronic decision aid to assist individuals in choosing a multi-gene panel with their medical
oncologist instead of a genetic counselor. We will test the hypothesis that a decision aid without a genetic
counselor can facilitate quality decisions around the selection of a specific multi-gene panel. In addition
to positive changes in knowledge, shared decision making, and decisional conflict, we anticipate that the
decision aid will increase access to genetic testing in a timely manner. Utilizing an effectiveness-
implementation hybrid study design, we propose these specific aims: (1) To develop and pilot electronic
decision aids for selection of a multi-gene panel in ovarian and pancreatic cancer patients. (2) To evaluate
the efficacy of the decision aid with an oncologist versus a traditional genetic counselor session for multi-
gene panel testing in a randomized clinical trial at multiple institutions. (3) To evaluate the effectiveness of
implementation of the decision aid in multiple, diverse populations.
These decision aids will establish a much needed and new paradigm for quality decision making and
communication around multi-gene panel testing for inherited cancer syndromes. This format will uniquely
address the current barriers that include the complex decision of which multi-gene panel to select, limited
genetic counselor resources, and lack of time and expertise on the part of practicing oncologists.
Patient decisions regarding cancer gene panel testing: An exploratory study.
, Chang Y.
, Chung D.C.
, Caruso A.R.
, Shannon K.M.
Journal of genetic counseling, 2023-11-11; , .