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Polygenic risk scores (PRSs), which often aggregate results from genome-wide association studies, can bridge the gap between initial discovery efforts and clinical applications for the estimation of disease risk using genetics. However, there is notable heterogeneity in the application and reporting of these risk scores, which hinders the translation of PRSs into clinical care. Here, in a collaboration between the Clinical Genome Resource (ClinGen) Complex Disease Working Group and the Polygenic Score (PGS) Catalog, we present the Polygenic Risk Score Reporting Standards (PRS-RS), in which we update the Genetic Risk Prediction Studies (GRIPS) Statement to reflect the present state of the field. Drawing on the input of experts in epidemiology, statistics, disease-specific applications, implementation and policy, this comprehensive reporting framework defines the minimal information that is needed to interpret and evaluate PRSs, especially with respect to downstream clinical applications. Items span detailed descriptions of study populations, statistical methods for the development and validation of PRSs and considerations for the potential limitations of these scores. In addition, we emphasize the need for data availability and transparency, and we encourage researchers to deposit and share PRSs through the PGS Catalog to facilitate reproducibility and comparative benchmarking. By providing these criteria in a structured format that builds on existing standards and ontologies, the use of this framework in publishing PRSs will facilitate translation into clinical care and progress towards defining best practice.

PurposeWomen with a first-degree family history of breast cancer (FHBC) are sometimes advised to initiate screening mammography when they are 10 years younger than the age at which their youngest relative was diagnosed, despite a lack of unambiguous evidence that this is an effective strategy. It is unknown how often this results in women initiating screening earlier (< 40 years) than screening guidelines recommend for average-risk women.MethodsWe examined screening initiation age by FHBC and age at diagnosis of the youngest relative using data collected by the Breast Cancer Surveillance Consortium on 74,838 first screening mammograms performed between 1996 and 2016.ResultsOf the 74,838 women included in the study, nearly 9% reported a FHBC. Approximately 16.8% of women who initiated mammography before 40 years reported a FHBC. More women with a FHBC than without initiated screening < 40 years (48% vs. 23%, respectively). Among women with a FHBC who initiated screening < 40 years, 65% were 10 years younger than the age at which their relative was diagnosed.ConclusionWomen with a first-degree relative diagnosed with breast cancer were more likely to start screening before 40 years than women reporting no FHBC, especially if their relative was diagnosed before 50 years.

Pharmacogenetic testing could reduce the time to identify a safe and effective medication for depression; however, it is underutilized in practice. Major depression constitutes the most common mental disorder in the US, and while antidepressant therapy can help, the current trial –and error approach can require patients to endure multiple medication trials before finding one that is effective. Tailoring the fit of pharmacogenetic testing with prescribers' needs across a variety of settings could help to establish a generalizable value proposition to improve likelihood of adoption. We conducted a study to explore the value proposition for health systems using pharmacogenetic testing for mental health medications through prescribers' real‐world experiences using implementation science concepts and systematic interviews with prescribers and administrators from four health care systems. To identify a value proposition, we organized the themes according to the Triple Aim framework, a leading framework for health care policy which asserts that high‐value care should focus on three key metrics: (1) better health care quality and (2) population‐level outcomes with (3) reduced per capita costs. Primary care providers whom we interviewed said that they value pharmacogenetic testing because it would provide more information about medications that they can prescribe, expanding their ability to identify medications that best‐fit patients and reducing their reliance on referrals to specialists; they said that this capacity would help meet patients' needs for access to mental health care through primary care. At the same time, prescribers expressed differing views about how pharmacogenetic testing can help with quality of care and whether their views about out‐of‐pocket cost would prevent them from offering it. Thus, implementation should focus on integrating pharmacogenetic testing into primary care and using strategies to support prescribers' interactions with patients. [ABSTRACT FROM AUTHOR]

Efforts to address limitations in cancer diagnostics in low‐ and middle‐income countries should follow an approach that avoids two extremes: unproductive attempts to require implementation of high‐income country gold standards or acquiescence to the diagnostic status quo. The relative advantage of implementing new diagnostic tests (including sequencing‐based approaches) should be determined through comparison to local standards of care, with context‐specific clinical utility determined using locally available therapeutic options. [ABSTRACT FROM AUTHOR]

The article discusses the importance of consolidating effective approaches for translating genomics into practice using implementation science. Implementation science is the study of methods to promote the systematic uptake of research findings into routine practice. The rapid advancements in genomics have created challenges in implementing these innovations into healthcare systems. The article suggests the need for a centralized repository, such as a "genomics learning implementation system," to disseminate evidence-based resources and facilitate the development of implementation interventions. The article emphasizes the importance of sharing and disseminating implementation resources to support clinicians and improve the implementation of genomics in clinical and public health settings. [Extracted from the article]

The field of Public Health Genomics has expanded beyond newborn screening to other applications that have the potential to improve public health. However, there is a need to measure the population health impact and sustainability of these applications, as well as address concerns about access and health inequities. Implementation science, which focuses on integrating evidence-based practices into public health settings, can inform the best approaches for realizing the promise of public health genomics. The implementation of population genetic screening (PGS) is used as an example to illustrate the different phases of implementation research, including exploration, planning, implementation, and sustainment. The current literature on public health genomics is primarily focused on the exploration and planning phases, with limited research on population health outcomes and sustainability. To advance the field, there is a need for multidisciplinary collaboration, standardized evaluation metrics, and capacity building in public health genomics research. [Extracted from the article]

Background: The impact and downstream effects of the chemotherapy supply chain in Ethiopia are not well understood. The purpose of this study was to identify perceived gaps in supply chain and characterize their impact on patient care. Methods: A concurrent mixed-method study was conducted at a large academic cancer center in Ethiopia. In-depth interviews (IDIs) and surveys were completed in collaboration with external stakeholders with knowledge about chemotherapy supply chain in Ethiopia. Thematic coding was used for qualitative analysis of IDI and descriptive statistics were used to summarize quantitative survey data. Results: Six stakeholders participated in the IDIs and seven completed surveys. IDIs revealed that most chemotherapeutic agents are purchased by the Ethiopian Pharmaceutical Supply Agency (EPSA) and are distributed to cancer treatment centers. A free-market purchasing option also exists, but for chemotherapy obtained outside of government-subsidized channels, the potential for substandard or falsified chemotherapy was a concern. Participants expressed confidence that the correct treatment was administered to patients, but viewpoints on reliability and consistency of medication supply were variable. Quantitative data from the survey showed that participants were not confident that medications are prepared safely and correctly. Improper storage and manipulation of high-risk medications remain a significant risk to staff. Conclusions: This study provides insight from a healthcare staff perspective on how gaps in the chemotherapy supply chain process impact patient care in a low-income country. Inventory management, disruptions in supply chain, and product integrity were perceived as the largest gaps in the current chemotherapy supply chain structure. [ABSTRACT FROM AUTHOR]