Mindy Clyne

Public health impact of genetic tests at the end of the 20th century

Purpose: To evaluate genetics tests available for clinical, research, and public health purposes in terms of their public health impact as measured by the number of people who could potentially be tested.Methods: Genetic tests for the 751 inherited diseases or conditions listed in the GeneTests database as of November 2000, were classified on the basis of their use for population-based testing and the prevalence of the disease or condition being tested. The GeneTests database divides the tests into two groups: those offered for clinical use and those available for research only.Results: Of the 423 clinical tests, 51 had potentially greater impact on public health because of their use in statewide newborn screening programs, other population screening programs, or testing for common diseases with a prevalence over 1 in 2,000 people. Among the 328 tests performed for research purposes only, 18 met the criteria for potentially greater public health impact.Conclusions: Our classification scheme indicated that fewer than 10% of the genetic tests listed in the GeneTests database at the end of 2000 are highly relevant to public health. The majority of genetic tests are used in diagnosis and/or genetic counseling for rare, single-gene disorders in a limited number of people. However, as more tests are being considered for newborn screening, and associations between genes and common diseases are being discovered, the impact of genetic testing on public health is likely to increase.

Prioritizing Genomic Applications for Action by Level of Evidence: A Horizon-Scanning Method

As evidence accumulates on the use of genomic tests and other health‐related applications of genomic technologies, decision makers may increasingly seek support in identifying which applications have sufficiently robust evidence to suggest they might be considered for action. As an interim working process to provide such support, we developed a horizon‐scanning method that assigns genomic applications to tiers defined by availability of synthesized evidence. We illustrate an application of the method to pharmacogenomics tests.

Public Knowledge regarding the Role of Genetic Susceptibility to Environmentally Induced Health Conditions

Objective: Diseases thought to be caused by exposure to environmental factors are also influenced by genetic susceptibility. It is not clear to what extent the public recognizes the role of genetics in causing these diseases. Methods: We asked 2,353 people in a national survey to indicate their level of agreement with statements about the genetic contribution to four health conditions typically considered to be environmentally induced. Results: 206 (9%) respondents believed that genetic susceptibility contributes to all four health conditions, while 751 (32%) believed that genetics plays no role in causing any of the conditions. Respondents were more likely to believe that genetics contributes to adverse drug reactions and smoking-related illnesses than to infectious diseases and diseases resulting from exposure to environmental agents. Conclusions: This study suggests that the public views genetic susceptibility as playing only a limited role in human disease induced by environmental factors. Increasing awareness of the role of genetic factors in these diseases will be necessary for translating gene discovery into effective personal and public health actions.

Horizon scanning for translational genomic research beyond bench to bedside

Purpose:The dizzying pace of genomic discoveries is leading to an increasing number of clinical applications. In this report, we provide a method for horizon scanning and 1 year data on translational research beyond bench to bedside to assess the validity, utility, implementation, and outcomes of such applications.Methods:We compiled cross-sectional results of ongoing horizon scanning of translational genomic research, conducted between 16 May 2012 and 15 May 2013, based on a weekly, systematic query of PubMed. A set of 505 beyond bench to bedside articles were collected and classified, including 312 original research articles; 123 systematic and other reviews; 38 clinical guidelines, policies, and recommendations; and 32 articles describing tools, decision support, and educational materials.Results:Most articles (62%) addressed a specific genomic test or other health application; almost half of these (n = 180) were related to cancer. We estimate that these publications account for 0.5% of reported human genomics and genetics research during the same time.Conclusion:These data provide baseline information to track the evolving knowledge base and gaps in genomic medicine. Continuous horizon scanning of the translational genomics literature is crucial for an evidence-based translation of genomics discoveries into improved health care and disease prevention.Genet Med 16 7, 535–538.

From public health genomics to precision public health: a 20-year journey

In this paper, we review the evolution of the field of public health genomics in the United States in the past two decades. Public health genomics focuses on effective and responsible translation of genomic science into population health benefits. We discuss the relationship of the field to the core public health functions and essential services, review its evidentiary foundation, and provide examples of current US public health priorities and applications. We cite examples of publications to illustrate how Genetics in Medicine reflected the evolution of the field. We also reflect on how public-health genomics is contributing to the emergence of “precision public health” with near-term opportunities offered by the US Precision Medicine (AllofUs) Initiative.

Trends in Pharmacogenomic Epidemiology: 2001–2007

Background: Pharmacogenomic epidemiology (PGxE) assesses the range of responses to pharmacologic agents in relation to genetic variation in population groups. We analyzed publication trends to describe the emerging field of PGxE. Methods: We analyzed PGxE literature published from 2001 to 2007 by using the HuGE Navigator, a curated database of abstracts on human genome epidemiology extracted from PubMed. We summarized trends by gene and study design and, for the 4 most cited genes, by associated health outcomes and drugs. Results: In all, 1,855 PGxE articles were indexed from 2001 through 2007, with annual publications increasing more than 15-fold during this period. Observational studies outnumbered clinical trials by a ratio of 10 to 1 (1,660 vs. 178). Just 4 genes together accounted for nearly one-fifth of all publications: ABCB1, CYP2C9, CYP2C19, and CYP2D6. For these 4 genes, the most frequently cited therapeutic category was antineoplastic agent, followed by anticoagulant, antiulcer, and antidepressant. Warfarin was the single most frequently cited drug. Conclusions: The field of PGxE is growing rapidly, encompassing a large spectrum of diseases and drugs important in clinical practice. Systematic tracking and synthesis of the published literature in PGxE can help identify promising applications and guide translation research.

A knowledge base for tracking the impact of genomics on population health

Purpose:We created an online knowledge base (the Public Health Genomics Knowledge Base (PHGKB)) to provide systematically curated and updated information that bridges population-based research on genomics with clinical and public health applications.Methods:Weekly horizon scanning of a wide variety of online resources is used to retrieve relevant scientific publications, guidelines, and commentaries. After curation by domain experts, links are deposited into Web-based databases.Results:PHGKB currently consists of nine component databases. Users can search the entire knowledge base or search one or more component databases directly and choose options for customizing the display of their search results.Conclusion:PHGKB offers researchers, policy makers, practitioners, and the general public a way to find information they need to understand the complicated landscape of genomics and population health.Genet Med 18 12, 1312–1314.

Proposed outcomes measures for state public health genomic programs.

PurposeTo assess the implementation of evidence-based genomic medicine and its population-level impact on health outcomes and to promote public health genetics interventions, in 2015 the Roundtable on Genomics and Precision Health of the National Academies of Sciences, Engineering, and Medicine formed an action collaborative, the Genomics and Public Health Action Collaborative (GPHAC). This group engaged key stakeholders from public/population health agencies, along with experts in the fields of health disparities, health literacy, implementation science, medical genetics, and patient advocacy.MethodsIn this paper, we present the efforts to identify performance objectives and outcome metrics. Specific attention is placed on measures related to hereditary breast ovarian cancer (HBOC) syndrome and Lynch syndrome (LS), two conditions with existing evidence-based genomic applications that can have immediate impact on morbidity and mortality.ResultsOur assessment revealed few existing outcome measures. Therefore, using an implementation research framework, 38 outcome measures were crafted.ConclusionEvidence-based public health requires outcome metrics, yet few exist for genomics. Therefore, we have proposed performance objectives that states might use and provided examples of a few state-level activities already under way, which are designed to collect outcome measures for HBOC and LS.

The Cancer Genomics and Epidemiology Navigator: An NCI Online Tool to Enhance Cancer Epidemiology Research

The Epidemiology and Genomics Research Program (EGRP) at the National Cancer Institute (NCI) has undergone strategic planning in an effort to transform the practice of cancer epidemiology in the 21st century ([1][1]). Through these efforts, the program has focused on the need for knowledge

HLBS-PopOmics: an online knowledge base to accelerate dissemination and implementation of research advances in population genomics to reduce the burden of heart, lung, blood, and sleep disorders

Recent dramatic advances in multiomics research coupled with exponentially increasing volume, complexity, and interdisciplinary nature of publications are making it challenging for scientists to stay up-to-date on the literature. Strategies to address this challenge include the creation of online databases and warehouses to support timely and targeted dissemination of research findings. Although most of the early examples have been in cancer genomics and pharmacogenomics, the approaches used can be adapted to support investigators in heart, lung, blood, and sleep (HLBS) disorders research. In this article, we describe the creation of an HLBS population genomics (HLBS-PopOmics) knowledge base as an online, continuously updated, searchable database to support the dissemination and implementation of studies and resources that are relevant to clinical and public health practice. In addition to targeted searches based on the HLBS disease categories, cross-cutting themes reflecting the ethical, legal, and social implications of genomics research; systematic evidence reviews; and clinical practice guidelines supporting screening, detection, evaluation, and treatment are also emphasized in HLBS-PopOmics. Future updates of the knowledge base will include additional emphasis on transcriptomics, proteomics, metabolomics, and other omics research; explore opportunities for leveraging data sets designed to support scientific discovery; and incorporate advanced machine learning bioinformatics capabilities.