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.     

Developing a genetic services assessment tool to inform quality improvement efforts in state genetic service delivery

PurposeThe Institute of Medicine recommended the utilization of metrics to improve quality in health care, although they have rarely been used in genetics. This study developed and tested a set of metrics for a quality assessment tool for genetic servicesMethodsA systematic review of literature, guidelines, and consensus statements identified candidate measures for a possible assessment tool. An expert panel conducted a modified Delphi technique to rank the metrics. Ratings were computed to generate a score for each metric, creating a set of metrics for consensus discussions, pilot testing, and feasibility testing in eight Midwestern states.ResultsThe panel reduced 61 candidate metrics to 21 for pilot testing in two states, which further limited and refined the set to 16 metrics. These 16 were categorized into five domains: service capacity, access to care, data systems, performance reporting, and workforce. Further feasibility testing in one Regional Genetics Collaborative identified the tool’s usefulness and barriers to implementation.ConclusionsThese quality metrics for both clinical and public health genetics across the lifespan may help medical professionals and policymakers evaluate quality and cost-effectiveness of genetic services on a statewide basis and stimulate outcome-oriented, health services research in medical genetics and genomics.     

Effectiveness of a Web-based genomics training for health educators in Texas

PurposeWith advanced genomic developments, better prevention strategies are available via personalized genomic services. Because there is a shortage of genetic professionals, and primary-care providers are overwhelmed with routine practice, involving health educators—whose expertise includes educating the general public and promoting healthy behavior—to provide basic genomics education may facilitate better services. We developed the first evidence- and theory-based family health history Web-based training for Texas health educators. This report presents its evaluation results.MethodsApproximately one-third of Texas health educators holding (Master) Certified Health Education Specialist designation (~40% were racial/ethnic minorities) participated in the family health history Web-based training. Attitudes, self-efficacy, intention, knowledge, and practice were assessed at baseline, immediately after training, and 3 months posttraining. Qualitative data were collected to provide additional evaluation findings.Resultsarticipants significantly improved their attitudes, knowledge, intention, and self-efficacy regarding family health history education, immediately posttraining and after 3 months. The number of participants practicing family health history was significantly increased. Participants’ overall assessment of the program was positive.ConclusionThis family health history Web-based training successfully increased the number of genomically competent and culturally diverse Texas health educators. Ongoing efforts are needed to sustain and expand this education as well as to disseminate it to all health educators in the United States.Genet Med 2014:16(3):271–278     

Health equity in the implementation of genomics and precision medicine: A public health imperative

Recent reviews have emphasized the need for a health equity agenda in genomics research. To ensure that genomic discoveries can lead to improved health outcomes for all segments of the population, a health equity agenda needs to go beyond research studies. Advances in genomics and precision medicine have led to an increasing number of evidence-based applications that can reduce morbidity and mortality for millions of people (tier 1). Studies have shown lower implementation rates for selected diseases with tier 1 applications (familial hypercholesterolemia, Lynch syndrome, hereditary breast and ovarian cancer) among racial and ethnic minority groups, rural communities, uninsured or underinsured people, and those with lower education and income. We make the case that a public health agenda is needed to address disparities in implementation of genomics and precision medicine. Public health actions can be centered on population-specific needs and outcomes assessment, policy and evidence development, and assurance of delivery of effective and ethical interventions. Crucial public health activities also include engaging communities, building coalitions, improving genetic health literacy, and building a diverse workforce. Without concerted public health action, further advances in genomics with potentially broad applications could lead to further widening of health disparities in the next decade.     

Development and evaluation of a genomics training program for community health workers in Texas

PurposeGenomics services have the potential to reduce incidence and mortality of diseases by providing individualized, family health history (FHH)-based prevention strategies to clients. These services may benefit from the involvement of community health workers (CHWs) in the provision of FHH-based genomics education and services, as CHWs are frontline public health workers and lay health educators, who share similar ethnicities, languages, socioeconomic statuses, and life experiences with the communities they serve. We developed, implemented, and evaluated the FHH-based genomics training program for CHWs.MethodsThis theory- and evidence-based FHH-focused genomics curriculum was developed by an interdisciplinary team. Full-day workshops in English and Spanish were delivered to 145 Texas CHWs (91.6% were Hispanic/black). Preworkshop, postworkshop, and 3-month follow-up data were collected.ResultsCHWs significantly improved their attitudes, intention, self-efficacy, and knowledge regarding adopting FHH-based genomics into their practice after the workshops. At 3-month follow-up, these scores remained higher, and there was a significant increase in CHWs’ genomics practices.ConclusionThis FHH-based genomics training successfully educated Texas CHWs, and the outcomes were promising. Dissemination of training to CHWs in and outside of Texas is needed to promote better access to and delivery of personalized genomics services for the lay and underserved communities.     

Evaluating the role of public health in implementation of genomics-related recommendations: a case study of hereditary cancers using the CDC Science Impact Framework

Public health plays an important role in ensuring access to interventions that can prevent disease, including the implementation of evidence-based genomic recommendations. We used the Centers for Disease Control and Prevention (CDC) Science Impact Framework to trace the impact of public health activities and partnerships on the implementation of the 2009 Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Lynch Syndrome screening recommendation and the 2005 and 2013 United States Preventive Services Task Force (USPSTF) BRCA1 and BRCA2 testing recommendations.The EGAPP and USPSTF recommendations have each been cited by >300 peer-reviewed publications. CDC funds selected states to build capacity to integrate these recommendations into public health programs, through education, policy, surveillance, and partnerships. Most state cancer control plans include genomics-related goals, objectives, or strategies. Since the EGAPP recommendation, major public and private payers now provide coverage for Lynch Syndrome screening for all newly diagnosed colorectal cancers. National guidelines and initiatives, including Healthy People 2020, included similar recommendations and cited the EGAPP and USPSTF recommendations. However, disparities in implementation based on race, ethnicity, and rural residence remain challenges. Public health achievements in promoting the evidence-based use of genomics for the prevention of hereditary cancers can inform future applications of genomics in public health.     

Developing a public health-tracking system for follow-up of newborn screening metabolic conditions: a four-state pilot project structure and initial findings

PurposeThe aim of this study was to describe the methods, cases, and initial results of a pilot project using existing public health data collection programs (birth defect surveillance or newborn screening) to conduct long-term follow-up of children with metabolic disorders.MethodsCalifornia, Iowa, New York, and Utah expanded birth defect surveillance or newborn screening programs to collect long-term follow-up data on 19 metabolic disorders. Data elements to monitor health status and services delivered were identified, and record abstraction and data linkages were conducted. Children were followed up through to the age of 3 years.ResultsA total of 261 metabolic cases were diagnosed in 1,343,696 live births (19.4 cases/100,000; 95% confidence interval = 17.1–21.8). Four deaths were identified. Children with fatty acid oxidation disorders had a higher percentage of health service encounters compared with children with other disorders of at least one health service encounter (hospitalization, emergency room, metabolic clinic, genetic service provider, or social worker) except for hospitalizations; children with organic acid disorders had a higher percentage of at least one hospitalization during their third year of life than children with other disorders.ConclusionExisting public health data programs can be leveraged to conduct population-based newborn screening long-term follow-up. This approach is flexible according to state needs and resources. These data will enable the states in assessing health burden, assuring access to services, and supporting policy development.Genet Med16 6, 484–490.     

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.     

Eligibility criteria in private and public coverage policies for BRCA genetic testing and genetic counseling

PurposeCoverage policies for genetic services for hereditary cancers are of interest because the services influence cancer risk reduction for both persons with cancer and their family members. We compared coverage policies for BRCA genetic testing and genetic counseling among selected payers in the United States to illuminate eligibility criteria variation that may explain differential access by insurance type. We compared these policies with policies for breast cancer screening with magnetic resonance imaging to consider whether payers apply a unique policy approach to genetic services.MethodsWe conducted a case study of large private and public payers selected on number of covered lives. We examined coverage policies for BRCA genetic testing, genetic counseling, and screening with magnetic resonance imaging and the eligibility criteria for each. We compared eligibility criteria against National Comprehensive Cancer Network guidelines.ResultsEligibility criteria for BRCA testing were related to personal history and family history of cancer. Although private payers covered BRCA testing for persons with and without cancer, the local Medicare carrier in our study only covered testing for persons with cancer. In contrast, Arizona's Medicaid program did not cover BRCA testing. Few payers had detailed eligibility criteria for genetic counseling. Private payers have more detailed coverage policies for both genetic services and screening with magnetic resonance imaging in comparison with public payers.ConclusionDespite clinical guidelines establishing standards for BRCA testing, we found differences in coverage policies particularly between private and public payers. Future research and policy discussions can consider how differences in private and public payer policies influence access to genetic technologies and health outcomes.     

Health literacy in the eHealth era: A systematic review of the literature

ObjectivesThis study aimed to identify studies on online health service use by people with limited health literacy, as the findings could provide insights into how health literacy has been, and should be, addressed in the eHealth era.MethodsTo identify the relevant literature published since 2010, we performed four rounds of selection—database selection, keyword search, screening of the titles and abstracts, and screening of full texts. This process produced a final of 74 publications.ResultsThe themes addressed in the 74 publications fell into five categories: evaluation of health-related content, development and evaluation of eHealth services, development and evaluation of health literacy measurement tools, interventions to improve health literacy, and online health information seeking behavior.ConclusionBarriers to access to and use of online health information can result from the readability of content and poor usability of eHealth services. We need new health literacy screening tools to identify skills for adequate use of eHealth services. Mobile apps hold great potential for eHealth and mHealth services tailored to people with low health literacy.Practice implicationsEfforts should be made to make eHealth services easily accessible to low-literacy individuals and to enhance individual health literacy through educational programs.     

Disparities in genetic services utilization in a random sample of young breast cancer survivors

PurposeIncreasing use of genetic services (counseling/testing) among young breast cancer survivors (YBCS) can help decrease breast cancer incidence and mortality. The study examined use of genetic services between Black and White/Other YBCS, attitudes and knowledge of breast cancer risk factors, and reasons for disparities in using genetic services.MethodsWe used baseline data from a randomized control trial including a population-based, stratified random sample of 3000 potentially eligible YBCS, with oversampling of Black YBCS.ResultsAmong 883 YBCS (353 Black, 530 White/Other) were significant disparities between the two racial groups. More White/Other YBCS had received genetic counseling and had genetic testing than Blacks. Although White/Other YBCS resided farther away from board-certified genetic counseling centers, they had fewer barriers to access these services. Black race, high out-of-pocket costs, older age, and more years since diagnosis were negatively associated with use of genetic services. Black YBCS had lower knowledge of breast cancer risk factors. Higher education and genetic counseling were associated with higher genetic knowledge.ConclusionRacial inequalities of cost-related access to care and education create disparities in genetic services utilization. System-based interventions that reduce socioeconomic disparities and empower YBCS with genetic knowledge, as well as physician referrals, can increase access to genetic services.     

Genetics/genomics education for nongenetic health professionals: a systematic literature review

PurposeThe completion of the Human Genome Project has enhanced avenues for disease prevention, diagnosis, and management. Owing to the shortage of genetic professionals, genetics/genomics training has been provided to nongenetic health professionals for years to establish their genomic competencies. We conducted a systematic literature review to summarize and evaluate the existing genetics/genomics education programs for nongenetic health professionals.MethodsFive electronic databases were searched from January 1990 to June 2016.ResultsForty-four studies met our inclusion criteria. There was a growing publication trend. Program participants were mainly physicians and nurses. The curricula, which were most commonly provided face to face, included basic genetics; applied genetics/genomics; ethical, legal, and social implications of genetics/genomics; and/or genomic competencies/recommendations in particular professional fields. Only one-third of the curricula were theory-based. The majority of studies adopted a pre-/post-test design and lacked follow-up data collection. Nearly all studies reported participants’ improvements in one or more of the following areas: knowledge, attitudes, skills, intention, self-efficacy, comfort level, and practice. However, most studies did not report participants’ age, ethnicity, years of clinical practice, data validity, and data reliability.ConclusionMany genetics/genomics education programs for nongenetic health professionals exist. Nevertheless, enhancement in methodological quality is needed to strengthen education initiatives.Genet Med advance online publication 20 October 2016     

Factors associated with disparities in emergency department use among Latino children with asthma

BackgroundSignificant disparities in emergency department (ED) rates exist for Latinos; however, few studies have investigated the factors that may account for these disparities.ObjectivesTo examine individual/family and health system factors among Latino and non-Latino white (NLW) children with asthma to explain disparities in ED rates.MethodsThe study was carried out in Puerto Rico (PR) and Rhode Island (RI) with the same design: a cross-sectional, observational approach with repeated measurements of selected variables.ResultsThe sample was composed of 804 children ages 7 to 15 years, with 405 from PR and 399 from RI. Latino children from both sites had significantly higher rates of ED use as compared with NLWs from RI. Regression analyses showed site, asthma control, parental reported severity of asthma and public insurance to be significantly associated with ED use.ConclusionLatino ethnicity and public insurance were among the most important factors related to frequent ED use. Revisions of the policies driving public insurance to assure better access to specialists, preventive education, and evidence-based treatment are needed. The results also suggest the need for the development of interventions in the ED that are geared toward educating families on how best to use emergency services.     

Barriers to the use of genetic testing: A study of racial and ethnic disparities

PurposeRacial and ethnic disparities in health are evident among a range of diseases and health care services. New genetic technologies are likely to increase these disparities as access to expensive genetic tests further widens the gap.MethodsOur analysis used data from a national representative sample collected in 2000. The total sample size for our analysis was 1724 men and women (consisting of 946 non-Hispanic whites, 392 Latinos, and 386 blacks) aged 18 to 91 years. Ordered logistic regression and binary logistic regression analysis were applied to investigate differences by race/ethnicity.ResultsResults showed significant differences by racial/ethnic groups in knowledge and concerns about the potential misuse of genetic testing. A significant difference was also found between the types of health insurance coverage by race/ethnicity as well as significantly higher levels of mistrust in a physician and the medical system.ConclusionOur findings raise concern about several barriers among minorities and calls for a development of educational and communication strategies that facilitate in narrowing the gap between racial and ethnic groups.     

The limited use of US residual newborn screening dried bloodspots for health disparity research

PurposeState-run newborn screening programs screen nearly all babies born in the United States at the time of delivery. After newborn screening has been completed, some states store the residual dried bloodspots. It is unknown how they have been used to address health disparities–related research.MethodsIn 2017–2018, a scoping review was conducted to evaluate the extent, type, and nature of how residual dried bloodspots. The review included 654 eligible publications, worldwide, published before May 2017. A post hoc analysis of the US-based studies using residual dried bloodspots (n = 192) were analyzed.ResultsThere were 32 (16.7%) articles identified that studied a condition of a known health disparity or focused on a key population: 25 studies assessed a disease or condition, 6 expressly enrolled a key population, and 1 study included both (i.e., heart disease and African American/Black).ConclusionExcluding 12 studies that researched leukemia or a brain tumor, only 20 studies addressed a known health disparity, with 6 stating a specific aim to address a health disparity. This resource could be used to gain further knowledge about health disparities, but is currently underutilized.     

Assuring clinical genetic services for newborns identified through U.S. newborn screening programs

PurposeThe study purpose was to determine whether U.S. newborn screening and/or genetics programs systematically document whether newborns and their families, identified with genetic disorders through newborn dried blood spot screening, receive clinical genetic services.MethodsNineteen state genetic plans were reviewed and a 30-question survey was administered to 53 respondents, including state newborn screening program coordinators and state genetics program coordinators in 36 states and principal investigators of 5 Health Resources and Services Administration-designated regional genetic and newborn screening collaboratives.ResultsSurvey findings indicate that none of the state newborn screening and/or state genetics programs routinely tracked patient-level data on clinical genetic services for newborns identified with all of the genetic and congenital conditions for which their programs screened. Few programs could provide information systematically on whether patients were referred for, or received, genetic counseling.ConclusionsSystematic tracking of clinical genetic services for newborns identified by newborn screening programs is desirable and manageable. Recent national guidelines recommend tracking genetic counseling in newborn screening follow-up. The communications processes that state programs currently use to obtain follow-up reports from subspecialists could be augmented with clinical genetic service questions. Programs should be encouraged and supported in the efforts to track genetic services for the benefit of newborns and their families.     

Ethnogenetic layering (EL): an alternative to the traditional race model in human variation and health disparity studies

Background: Traditionally, studies in human biodiversity, disease risk, and health disparities have defined populations in the context of typological racial models. However, such racial models are often imprecise generalizations that fail to capture important local patterns of human biodiversity.

Aim: More explicit, detailed, and integrated information on relevant geographic, environmental, cultural, genetic, historical, and demographic variables are needed to understand local group expressions of disease inequities. This paper details the methods used in ethnogenetic layering (EL), a non-typological alternative to the current reliance of the biological racial paradigm in public health, epidemiology, and biomedicine.

Subjects and methods: EL is focused on geographically identified microethnic groups or MEGs, a more nuanced and sensitive level of analysis than race. Using the MEG level of analysis, EL reveals clinical variations, details the causes of health disparities, and provides a foundation for bioculturally effective intervention strategies. EL relies on computational approaches by using GIS-facilitated maps to produce horizontally stratified geographical regional profiles which are then stacked and evaluated vertically. Each horizontal digital map details local geographic variation in the attributes of a particular database; usually this includes data on local historical demography, genetic diversity, cultural patterns, and specific chronic disease risks (e.g. dietary and toxicological exposures). Horizontal visual display of these layered maps permits vertical analysis at various geographic hot spots.

Results and conclusions: From these analyses, geographical areas and their associated MEGs with highly correlated chronic disease risk factors can be identified and targeted for further study.     

A qualitative study of prevalent laboratory information systems and data communication patterns for genetic test reporting

PurposeThe availability of genetic test data within the electronic health record (EHR) is a pillar of the US vision for an interoperable health IT infrastructure and a learning health system. Although EHRs have been highly investigated, evaluation of the information systems used by the genetic labs has received less attention—but is necessary for achieving optimal interoperability. This study aimed to characterize how US genetic testing labs handle their information processing tasks.MethodsWe followed a qualitative research method that included interviewing lab representatives and a panel discussion to characterize the information flow models.ResultsTen labs participated in the study. We identified three generic lab system models and their relevant characteristics: a backbone system with additional specialized systems for interpreting genetic results, a brokering system that handles housekeeping and communication, and a single primary system for results interpretation and report generation.ConclusionLabs have heterogeneous workflows and generally have a low adoption of standards when sending genetic test reports back to EHRs. Core interpretations are often delivered as free text, limiting their computational availability for clinical decision support tools. Increased provision of genetic test data in discrete and standard-based formats by labs will benefit individual and public health.     

Effects of genetic risk information on children's psychosocial wellbeing: A systematic review of the literature

PurposeAs advances in research have made a growing number of genetic tests available, clinicians will increasingly be faced with making decisions about when offering genetic testing services to children is appropriate. A key factor in such decisions involves determining whether knowledge of genetic health risks might have an impact on children's psychosocial wellbeing.MethodsWe conducted a systematic review of the literature using five online databases to identify studies that assessed the impact of communicating nondiagnostic carrier or presymptomatic genetic test results to children.ResultsA total of 17 articles met the inclusion criteria for this review. These studies used a wide range of methodologies to explore carrier and predictive testing. Although there was little quantitative evidence that receiving genetic test results led to a significant impact on children's psychosocial wellbeing, it was found that methodological inconsistencies, small samples, and reliance on assessments most appropriate for psychopathology make any firm conclusions about the impact of genetic testing on children premature.ConclusionCurrently, there is insufficient evidence to inform a nuanced understanding of how children respond to genetic testing. This suggests a strong need for further research that uses rigorous approaches to address children's emotional states, self-perception, and social wellbeing.