||1U01CA232795-01A1 Interpret this number
||University Of Washington
||Implementing the Moon: Getting Genomic Testing to the Public
Genetics reports on 22 areas of clinical practice guidelines on how to use genetic tests, based on data that
clinical outcomes are enhanced or improved by regular use. Current practice guidelines from ACMG provide
referral indications for cancer predisposition assessment. Identifying patients with high genetic risk for breast,
ovary, colon, or other cancers has important clinical ramifications for an individual's healthcare, but genetic risk
if often not identified because of testing barriers at several levels. Barriers at the provider level include
inadequacies in risk recognition, patient referrals and availability of genetic professionals to provide counseling
in a traditional testing paradigm. Barriers at the level of the patient include poor understanding of the
availability and benefits of testing and inadequate access to testing services. How to best implement
appropriate genomic testing and follow-up care into an operating healthcare system is not known. Issues of
communication, clinical flow, reportable actions, and transmission of information and support are of critical
importance, and must change and grow to accommodate the new information contained within genomic
testing. Studies to date of the implementation process have been conducted in high resourced facilities, under
optimal conditions, often not at the system level. Aims include:
1. Compare the efficacy and implementation of two strategies for identifying members of a primary care clinic's
population who have a family or personal history of cancer and offering high-risk individuals to obtain genetic
testing for cancer susceptibility mutations in a randomized trial. The two methods are: 1) Point of Care (POC)
approach: A tablet-based screening for family/personal history of cancer will be offered to all patients aged 25-
65 coming in for a routine appointment at the clinic. 2) Direct Patient Engagement (DPE): Letters will be sent to
all individuals aged 25-65 in a clinic's population, inviting them to visit a web site for screening for family
/personal history of cancer. In both strategies, those determined to be high-risk will receive online education
about genetic testing and an invitation to obtain such testing through a web-based platform. Outcomes will be
the fraction of the active clinic patient population that completes screening and the fraction of the active clinic
patient population that undergoes testing.
2. Identify changes, problems, and inefficiencies in clinical flow and interactions during and after the
implementation of genomic testing for cancer risk across primary care clinics.
3. Evaluate the effects of two methods of implementation of genomic screening for cancer risk on patient,
provider, and health system leader reports of benefits and harms, satisfaction, perceived quality of care,
including across gender, racial/ethnic, socioeconomic, and genetic literacy divides.
4. Evaluate the value (cost-effectiveness) and affordability (budget impact) of each screening strategy.