Processes and outcomes from a clinical genetics e-consultation service managed by a primary care physician champion.

Purpose: Timely access to clinical genetics consultations remains a barrier to timely genomic medicine services, which new service delivery models might help address.

Methods: We implemented a genetics electronic consultation (eConsult) service staffed by a primary care physician (PCP) champion, supervised by genetics specialists. Chart reviews from July 2018 to January 2022 examined categories of questions received, e-consultant's recommendations, and outcomes of any conventional genetics referrals.

Prostate Cancer Foundation Screening Guidelines for Black Men in the United States.

Background: In the United States, Black men are at highest risk for being diagnosed with and dying from prostate cancer. Given this disparity, we examined relevant data to establish clinical prostate-specific antigen (PSA) screening guidelines for Black men in the United States.

Methods: A comprehensive literature search identified 1848 unique publications for screening.

Design and pilot results from the Million Veteran Program Return Of Actionable Results (MVP-ROAR) Study.

Background: As a mega-biobank linked to a national healthcare system, the Million Veteran Program (MVP) can directly improve the health care of participants. To determine the feasibility and outcomes of returning medically actionable genetic results to MVP participants, the program launched the MVP Return of Actionable Results (MVP-ROAR) Study, with familial hypercholesterolemia (FH) as an exemplar actionable condition.

Methods: The MVP-ROAR Study consists of a completed single-arm pilot phase and an ongoing randomized clinical trial (RCT), in which MVP participants are recontacted and invited to receive clinical confirmatory gene sequencing testing and a telegenetic counseling intervention.

Development and utility of a clinical research informatics application for participant recruitment and workflow management for a return of results pilot trial in familial hypercholesterolemia in the Million Veteran Program.

Objective: The development of clinical research informatics tools and workflow processes associated with re-engaging biobank participants has become necessary as genomic repositories increasingly consider the return of actionable research results.

Materials And Methods: Here we describe the development and utility of an informatics application for participant recruitment and enrollment management for the Veterans Affairs Million Veteran Program Return Of Actionable Results Study, a randomized controlled pilot trial returning individual genetic results associated with familial hypercholesterolemia.

Results: The application is developed in Python-Flask and was placed into production in November 2021.

Helping patients understand multi-cancer early detection tests: a scoping review.

Multi-cancer early detection tests are emerging as a revolutionary technology for the early detection of dozens of cancers from a single blood sample, including cancers without proven screening methods. However, they also come with challenges, including false-positive and false-negative results. To help patients make informed decisions, patient education materials are crucial.

Data from a national survey of United States primary care physicians on genetic risk scores for common disease prevention.

Genetic risk scores (GRS) are an emerging and rapidly evolving genomic medicine innovation that may contribute to more precise risk stratification for disease prevention. Inclusion of GRS in routine medical care is imminent, and understanding how physicians perceive and intend to utilize GRS in practice is an important first step in facilitating uptake. This dataset was derived from an electronic survey and comprises one of the first, largest, and broadest samples of United States primary care physician perceptions on the clinical decision-making, benefits, barriers, and utility of GRS to date.

The GenoVA study: Equitable implementation of a pragmatic randomized trial of polygenic-risk scoring in primary care.

Polygenic risk scores (PRSs) hold promise for disease risk assessment and prevention. The Genomic Medicine at Veterans Affairs (GenoVA) Study is addressing three main challenges to the clinical implementation of PRSs in preventive care: defining and determining their clinical utility, implementing them in time-constrained primary care settings, and countering their potential to exacerbate healthcare disparities. The study processes used to test patients, report their PRS results to them and their primary care providers (PCPs), and promote the use of those results in clinical decision-making are modeled on common practices in primary care.

Prostate cancer screening in African American men: a review of the evidence.

Background: Prostate cancer is the most diagnosed cancer in African American men, yet prostate cancer screening regimens in this group are poorly guided by existing evidence, given underrepresentation of African American men in prostate cancer screening trials. It is critical to optimize prostate cancer screening and early detection in this high-risk group because underdiagnosis may lead to later-stage cancers at diagnosis and higher mortality while overdiagnosis may lead to unnecessary treatment.

Methods: We performed a review of the literature related to prostate cancer screening and early detection specific to African American men to summarize the existing evidence available to guide health-care practice.

Navigating the uncertainty of precision cancer screening: The role of shared decision-making.

Objective: Describe how applying a shared decision making (SDM) lens to the implementation of new technologies can improve patient-centeredness.

Methods: This paper argues that the emergence of polygenic risk scores (PRS) for cancer screening presents an illustrative opportunity to include SDM when novel technologies enter clinical care.

Results: PRS are novel tools that indicate an individual's genetic risk of a given disease relative to the population.

Perceived benefits and barriers to implementing precision preventive care: Results of a national physician survey.

Polygenic risk scores (PRS) may improve risk-stratification in preventive care. Their clinical implementation will depend on primary care physicians' (PCPs) uptake. We surveyed PCPs in a national physician database about the perceived clinical utility, benefits, and barriers to the use of PRS in preventive care.

Primary care physician use of patient race and polygenic risk scores in medical decision-making.

Purpose: The use of patient race in medicine is controversial for its potential either to exacerbate or address health disparities. Polygenic risk scores (PRSs) have emerged as a tool for risk stratification models used in preventive medicine. We examined whether PRS results affect primary care physician (PCP) medical decision-making and whether that effect varies by patient race.

Patient and provider perspectives on polygenic risk scores: implications for clinical reporting and utilization.

Background: Polygenic risk scores (PRS), which offer information about genomic risk for common diseases, have been proposed for clinical implementation. The ways in which PRS information may influence a patient's health trajectory depend on how both the patient and their primary care provider (PCP) interpret and act on PRS information. We aimed to probe patient and PCP responses to PRS clinical reporting choices METHODS: Qualitative semi-structured interviews of both patients (N=25) and PCPs (N=21) exploring responses to mock PRS clinical reports of two different designs: binary and continuous representations of PRS.

Performance of EHR classifiers for patient eligibility in a clinical trial of precision screening.

Background: Validated computable eligibility criteria use real-world data and facilitate the conduct of clinical trials. The Genomic Medicine at VA (GenoVA) Study is a pragmatic trial of polygenic risk score testing enrolling patients without known diagnoses of 6 common diseases: atrial fibrillation, coronary artery disease, type 2 diabetes, breast cancer, colorectal cancer, and prostate cancer. We describe the validation of computable disease classifiers as eligibility criteria and their performance in the first 16 months of trial enrollment.