Special Issue "Implementation of Public Health Genomics"

A special issue of Healthcare (ISSN 2227-9032).

Deadline for manuscript submissions: closed (30 August 2015).

Special Issue Editors

Cecelia A. Bellcross PhD, MS, CGC
Website
Guest Editor
Genetic Counseling Training Program, Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
Interests: hereditary cancers/cancer genetic counseling and risk assessment; public health genetics/genomics; family history screening tools in primary care; genetic counselor education and training
Debra Duquette MS, CGC
Website
Guest Editor
Genomics and Genetic Disorders Section, Michigan Department of Community Health, Lansing, MI 48909, USA
Interests: public health genetics and genomics; cardiovascular genetics; hereditary cancers; cascade screening; newborn screening; provider education regarding genomics; breast cancer in young women; ovarian cancer; sudden cardiac death of the young; informed consent for genetic testing; health plan policies for genetic counseling and testing

Special Issue Information

Dear Colleagues,

Over the last decade, advances in genetic discoveries and technology have ushered in the new era of Public Health Genomics. Public Health Genomics is "a multidisciplinary field concerned with the effective and responsible translation of genome based knowledge and technologies to improve population health". While genetics has been part of public health since newborn screening for metabolic conditions began in the 1960’s, genetics is no longer just about rare diseases. Common chronic diseases such as cancer, heart disease and diabetes are now priority areas for public health genomics applications. Understanding the genetic predisposition to such diseases holds the promise of prevention, early detection and reduced morbidity and mortality on a population scale. However, genomic discoveries are being made and transferred to the medical market place so rapidly that there is often little-to-no evidence regarding clinical validity, or impact on health outcomes.

The articles in this special issue, submitted by experts in the field, will highlight the changes, challenges and successes occurring as public health transitions into the genomic era. Public health genomics applications at the international, national and local levels will be featured. Multiple disciplines will be represented including epidemiology, health economics, sociology, public health, clinical genetics, and health systems research.

Cecelia A. Bellcross, PhD, MS, CGC
Debra Duquette, MS, CGC
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Healthcare is an international peer-reviewed open access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1400 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • public health genomics
  • public health
  • genomics
  • genetics
  • epidemiology
  • health policy
  • health economics

Published Papers (11 papers)

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Research

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Open AccessArticle
Public Health Approaches and Barriers to Educating Providers about Hereditary Breast and Ovarian Cancer Syndrome
Healthcare 2016, 4(1), 19; https://doi.org/10.3390/healthcare4010019 - 11 Mar 2016
Abstract
The Michigan Department of Health and Human Services implemented and evaluated two initiatives designed to enhance provider knowledge of patients appropriate for breast and/or ovarian cancer genetic risk assessment and hereditary breast and ovarian cancer (HBOC) syndrome testing. The first initiative targeted select [...] Read more.
The Michigan Department of Health and Human Services implemented and evaluated two initiatives designed to enhance provider knowledge of patients appropriate for breast and/or ovarian cancer genetic risk assessment and hereditary breast and ovarian cancer (HBOC) syndrome testing. The first initiative targeted select providers who had diagnosed patients meeting HBOC risk criteria. Specifically, the initiative used 2008–2009 state cancer registry data to identify all providers who had diagnosed breast cancers in women ≤50 years of age, male breast cancers, and ovarian cancers in four health systems with newly established cancer genetics clinics. Using a method coined bidirectional reporting (BDR), reports highlighting how many of these cases each provider had seen were generated and mailed. Reports on 475 cancers (9.5% of the 5005 cases statewide meeting criteria) were sent to 69 providers with information about how and why to refer such patients for genetic counseling. Providers who received a report were contacted to assess whether the reports increased awareness or resulted in action (genetic counseling/referral). Based on the few responses received, despite multiple attempts to contact, and attrition rate, it is not possible to ascertain the impact of this initiative on providers. However the project resulted in the MDHHS identifying which providers see the largest proportion of at-risk patients, creating an opportunity to target those providers with HBOC education efforts. The second initiative involved creating and broadly disseminating an online, interactive case-based educational module to increase awareness and referral decisions for HBOC using high- and low-risk patient scenarios. A total of 1835 unique users accessed the module in a one year. Collectively the users viewed topic pages 2724 times and the interactive case studies 1369 times. Point of care tools (fact sheets) were viewed 1624 times and downloaded 764 times. Satisfaction among the subset of users applying for continuing medical education credit was high. The online educational module had a much broader reach than the bidirectional reporting initiative but to a self-selected audience. Combining targeted and broad-based provider education efforts may be a better way to increase HBOC awareness in the target audience, starting with those providers seeing the largest proportion of patients at risk. Full article
(This article belongs to the Special Issue Implementation of Public Health Genomics)
Open AccessArticle
Family History of Sudden Cardiac Death of the Young: Prevalence and Associated Factors
Healthcare 2015, 3(4), 1086-1096; https://doi.org/10.3390/healthcare3041086 - 09 Nov 2015
Cited by 2
Abstract
Sudden cardiac death of the young (SCDY) is a devastating event for families and communities. Family history is a significant risk factor for this potentially preventable cause of death, however a complete and detailed family history is not commonly obtained during routine health [...] Read more.
Sudden cardiac death of the young (SCDY) is a devastating event for families and communities. Family history is a significant risk factor for this potentially preventable cause of death, however a complete and detailed family history is not commonly obtained during routine health maintenance visits. To estimate the proportion of adults with a family history of SCDY, the Michigan Department of Health and Human Services (MDHHS) Genomics Program included two questions within the 2007 Michigan Behavioral Risk Factor Survey (MiBRFS). Prevalence estimates and 95% confidence intervals were calculated. Among adults in Michigan, 6.3% reported a family history of SCDY, with a greater prevalence among blacks, those with lower household income, and those with less education. Among those reporting a family history of SCDY, 42.3% had at least one first-degree relative and 26.2% had multiple affected family members. This is the first study to demonstrate the prevalence of family history of SCDY while also highlighting key sociodemographic characteristics associated with increased prevalence. These findings should guide evidence-based interventions to reach those at greatest risk. Full article
(This article belongs to the Special Issue Implementation of Public Health Genomics)
Open AccessArticle
Community-Based Family Health History Education: The Role of State Health Agencies in Engaging Medically Underserved Populations in Understanding Genomics and Risk of Chronic Disease
Healthcare 2015, 3(4), 995-1017; https://doi.org/10.3390/healthcare3040995 - 21 Oct 2015
Cited by 4
Abstract
Although family health history (FHH) collection has been recognized as an influential method for assessing a person’s risk of chronic disease, studies have shown that people who are low-income, from racial and ethnic minorities, and poorly educated are less likely to collect their [...] Read more.
Although family health history (FHH) collection has been recognized as an influential method for assessing a person’s risk of chronic disease, studies have shown that people who are low-income, from racial and ethnic minorities, and poorly educated are less likely to collect their FHH or share it with a medical professional. Programs to raise public awareness about the importance of FHH have conventionally targeted patients in primary care clinics or in the general community, but few efforts have been made to coordinate educational efforts across settings. This paper describes a project by the Connecticut Department of Public Health’s Genomics Office to disseminate training materials about FHH as broadly as possible, by engaging partners in multiple settings: a local health department, a community health center, and two advocacy organizations that serve minority and immigrant populations. We used a mixed methods program evaluation to examine the efficacy of the FHH program and to assess barriers in integrating it into the groups’ regular programming. Our findings highlight how a state health department can promote FHH education among underserved communities. Full article
(This article belongs to the Special Issue Implementation of Public Health Genomics)
Open AccessArticle
Infrastructure and Educational Needs of Newborn Screening Short-Term Follow-Up Programs within the Southeast Regional Newborn Screening & Genetics Collaborative: A Pilot Survey
Healthcare 2015, 3(4), 964-972; https://doi.org/10.3390/healthcare3040964 - 15 Oct 2015
Cited by 1
Abstract
Newborn screening (NBS) follow-up protocols vary significantly by state, and there is a need to better understand the infrastructure and communication flow of NBS programs. In addition, assessment of the educational needs of families and providers with regard to the implications of NBS [...] Read more.
Newborn screening (NBS) follow-up protocols vary significantly by state, and there is a need to better understand the infrastructure and communication flow of NBS programs. In addition, assessment of the educational needs of families and providers with regard to the implications of NBS results is required to inform the development of appropriate informational resources and training opportunities. To begin to address these issues, we administered a web-based survey to state NBS coordinators within the Southeast Regional Newborn Screening & Genetics Collaborative (SERC). Fourteen coordinators responded to the survey, including at least one from each of the 10 SERC states/territories. Over one-third of respondents had never received formal training regarding the metabolic conditions identified on NBS. Most communicated results via telephone or fax, though two centers indicated use of a web-based platform. Only two programs were involved in directly reporting results to the family. Four programs reported a long-term follow-up protocol. Deficits were noted for primary care provider (PCP) knowledge of metabolic disorders identified on NBS, and how to inform parents of abnormal results. Close to half indicated that the adequacy of the number of genetic counselors, dietitians, and medical/biochemical geneticists was minimal to insufficient. Respondents uniformly recognized the importance of providing additional educational and informational resources in multiple categories to NBS staff, PCPs, and families. Full article
(This article belongs to the Special Issue Implementation of Public Health Genomics)
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Open AccessArticle
The Activities and Impact of State Programs to Address Hereditary Breast and Ovarian Cancer, 2011–2014
Healthcare 2015, 3(4), 948-963; https://doi.org/10.3390/healthcare3040948 - 15 Oct 2015
Cited by 9
Abstract
In 2011, the Division of Cancer Prevention and Control (DCPC), at the United States Centers for Disease Control and Prevention (CDC), released a three-year funding opportunity announcement (FOA) for a competitive, non-research cooperative agreement. The agreement enhanced the capacities of state health departments [...] Read more.
In 2011, the Division of Cancer Prevention and Control (DCPC), at the United States Centers for Disease Control and Prevention (CDC), released a three-year funding opportunity announcement (FOA) for a competitive, non-research cooperative agreement. The agreement enhanced the capacities of state health departments to promote the application of best practices for evidence-based breast cancer genomics through education, surveillance, and policy activities. The FOA required that applicants focus on activities related to hereditary breast and ovarian cancer (HBOC). The DCPC funded three states: Georgia, Michigan, and Oregon. Georgia was a first-time recipient of cancer genomics funding, whereas Michigan and Oregon had long standing activities in cancer genomics and had received CDC funding in the past. By the end of the funding period, each state had well-functioning and impactful state-based programs in breast cancer genomics. This article highlights the impact of a few key state activities by using CDC’s Science Impact Framework. There were challenges to implementing public health genomics programs, including the need to develop relevant partnerships, the highly technical nature of the subject matter, a lack of genetic services in certain areas, and the difficulty in funding genetic services. Georgia, Michigan, and Oregon have served as models for others interested in initiating or expanding cancer genomics programs, and they helped to determine what works well for promoting and integrating public health genomics into existing systems. Full article
(This article belongs to the Special Issue Implementation of Public Health Genomics)
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Review

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Open AccessReview
Hereditary Cancer: Example of a Public Health Approach to Ensure Population Health Benefits of Genetic Medicine
Healthcare 2016, 4(1), 6; https://doi.org/10.3390/healthcare4010006 - 08 Jan 2016
Cited by 4
Abstract
This article introduces the identification, prevention, and treatment of hereditary cancer as an important public health concern. Hereditary cancer research and educational outreach activities are used to illustrate how public health functions can help to achieve health benefits of genetic and genomic medicine. [...] Read more.
This article introduces the identification, prevention, and treatment of hereditary cancer as an important public health concern. Hereditary cancer research and educational outreach activities are used to illustrate how public health functions can help to achieve health benefits of genetic and genomic medicine. First, we evaluate genetic service delivery through triangulating patient and provider survey results which reveal variability among providers in hereditary cancer knowledge and genetic service provision. Second, we describe efforts we have made to assure competency among healthcare providers and to inform, educate and empower patients with regard to the rapidly evolving field of genomics and hereditary cancer. Lastly, key policy-issues raised by our experiences are discussed in the context of how they may help us to more effectively translate future genomic technologies into practice in order to attain population health benefits from genetic and genomic medicine. Full article
(This article belongs to the Special Issue Implementation of Public Health Genomics)
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Open AccessReview
Showing Value in Newborn Screening: Challenges in Quantifying the Effectiveness and Cost-Effectiveness of Early Detection of Phenylketonuria and Cystic Fibrosis
Healthcare 2015, 3(4), 1133-1157; https://doi.org/10.3390/healthcare3041133 - 11 Nov 2015
Cited by 16
Abstract
Decision makers sometimes request information on the cost savings, cost-effectiveness, or cost-benefit of public health programs. In practice, quantifying the health and economic benefits of population-level screening programs such as newborn screening (NBS) is challenging. It requires that one specify the frequencies of [...] Read more.
Decision makers sometimes request information on the cost savings, cost-effectiveness, or cost-benefit of public health programs. In practice, quantifying the health and economic benefits of population-level screening programs such as newborn screening (NBS) is challenging. It requires that one specify the frequencies of health outcomes and events, such as hospitalizations, for a cohort of children with a given condition under two different scenarios—with or without NBS. Such analyses also assume that everything else, including treatments, is the same between groups. Lack of comparable data for representative screened and unscreened cohorts that are exposed to the same treatments following diagnosis can result in either under- or over-statement of differences. Accordingly, the benefits of early detection may be understated or overstated. This paper illustrates these common problems through a review of past economic evaluations of screening for two historically significant conditions, phenylketonuria and cystic fibrosis. In both examples qualitative judgments about the value of prompt identification and early treatment to an affected child were more influential than specific numerical estimates of lives or costs saved. Full article
(This article belongs to the Special Issue Implementation of Public Health Genomics)
Open AccessReview
When is Genomic Testing Cost-Effective? Testing for Lynch Syndrome in Patients with Newly-Diagnosed Colorectal Cancer and Their Relatives
Healthcare 2015, 3(4), 860-878; https://doi.org/10.3390/healthcare3040860 - 24 Sep 2015
Cited by 19
Abstract
Varying estimates of the cost-effectiveness of genomic testing applications can reflect differences in study questions, settings, methods and assumptions. This review compares recently published cost-effectiveness analyses of testing strategies for Lynch Syndrome (LS) in tumors from patients newly diagnosed with colorectal cancer (CRC) [...] Read more.
Varying estimates of the cost-effectiveness of genomic testing applications can reflect differences in study questions, settings, methods and assumptions. This review compares recently published cost-effectiveness analyses of testing strategies for Lynch Syndrome (LS) in tumors from patients newly diagnosed with colorectal cancer (CRC) for either all adult patients or patients up to age 70 along with cascade testing of relatives of probands. Seven studies published from 2010 through 2015 were identified and summarized. Five studies analyzed the universal offer of testing to adult patients with CRC and two others analyzed testing patients up to age 70; all except one reported incremental cost-effectiveness ratios (ICERs) < $ 100,000 per life-year or quality-adjusted life-year gained. Three studies found lower ICERs for selective testing strategies using family history-based predictive models compared with universal testing. However, those calculations were based on estimates of sensitivity of predictive models derived from research studies, and it is unclear how sensitive such models are in routine clinical practice. Key model parameters that are influential in ICER estimates included 1) the number of first-degree relatives tested per proband identified with LS and 2) the cost of gene sequencing. Others include the frequency of intensive colonoscopic surveillance, the cost of colonoscopy, and the inclusion of extracolonic surveillance and prevention options. Full article
(This article belongs to the Special Issue Implementation of Public Health Genomics)
Open AccessReview
Genomics in Public Health: Perspective from the Office of Public Health Genomics at the Centers for Disease Control and Prevention (CDC)
Healthcare 2015, 3(3), 830-837; https://doi.org/10.3390/healthcare3030830 - 15 Sep 2015
Cited by 14
Abstract
The national effort to use genomic knowledge to save lives is gaining momentum, as illustrated by the inclusion of genomics in key public health initiatives, including Healthy People 2020, and the recent launch of the precision medicine initiative. The Office of Public [...] Read more.
The national effort to use genomic knowledge to save lives is gaining momentum, as illustrated by the inclusion of genomics in key public health initiatives, including Healthy People 2020, and the recent launch of the precision medicine initiative. The Office of Public Health Genomics (OPHG) at the Centers for Disease Control and Prevention (CDC) partners with state public health departments and others to advance the translation of genome-based discoveries into disease prevention and population health. To do this, OPHG has adopted an “identify, inform, and integrate” model: identify evidence-based genomic applications ready for implementation, inform stakeholders about these applications, and integrate these applications into public health at the local, state, and national level. This paper addresses current and future work at OPHG for integrating genomics into public health programs. Full article
(This article belongs to the Special Issue Implementation of Public Health Genomics)

Other

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Open AccessConference Report
Expert and Advocacy Group Consensus Findings on the Horizon of Public Health Genetic Testing
Healthcare 2016, 4(1), 14; https://doi.org/10.3390/healthcare4010014 - 27 Jan 2016
Cited by 13
Abstract
Description: Among the two leading causes of death in the United States, each responsible for one in every four deaths, heart disease costs Americans $300 billion, while cancer costs Americans $216 billion per year. They also rank among the top three causes of [...] Read more.
Description: Among the two leading causes of death in the United States, each responsible for one in every four deaths, heart disease costs Americans $300 billion, while cancer costs Americans $216 billion per year. They also rank among the top three causes of death in Europe and Asia. In 2012 the University of Michigan Center for Public Health and Community Genomics and Genetic Alliance, with the support of the Centers for Disease Control and Prevention Office of Public Health Genomics, hosted a conference in Atlanta, Georgia to consider related action strategies based on public health genomics. The aim of the conference was consensus building on recommendations to implement genetic screening for three major heritable contributors to these mortality and cost figures: hereditary breast and ovarian cancer (HBOC), familial hypercholesterolemia (FH), and Lynch syndrome (LS). Genetic applications for these three conditions are labeled with a “Tier 1” designation by the U.S. Centers for Disease Control and Prevention because they have been fully validated and clinical practice guidelines based on systematic review support them. Methodology: The conference followed a deliberative sequence starting with nationally recognized clinical and public health presenters for each condition, followed by a Patient and Community Perspectives Panel, working group sessions for each of the conditions, and a final plenary session. The 74 conference participants represented disease research and advocacy, public health, medicine and nursing, genetics, governmental health agencies, and industry. Participants drew on a public health framework interconnecting policy, clinical intervention, surveillance, and educational functions for their deliberations. Results: Participants emphasized the importance of collaboration between clinical, public health, and advocacy groups in implementing Tier 1 genetic screening. Advocacy groups could help with individual and institutional buy-in of Tier 1 programs. Groups differed on funding strategies, with alternative options such as large-scale federal funding and smaller scale, incremental funding solutions proposed. Piggybacking on existing federal breast and colorectal cancer control programs was suggested. Public health departments need to assess what information is now being collected by their state cancer registries. The groups advised that information on cascade screening of relatives be included in toolkits for use by states. Participants stressed incorporation of family history into health department breast cancer screening programs, and clinical HBOC data into state surveillance systems. The carrying out of universal LS screening of tumors in those with colorectal cancer was reviewed. Expansion of universal screening to include endometrial tumors was discussed, as was the application of guidelines recommending cholesterol screening of children 9–11 years old. States more advanced in terms of Tier 1 testing could serve as models and partners with other states launching screening and surveillance programs. A multidisciplinary team of screening program champions was suggested as a means of raising awareness among the consumer and health care communities. Participants offered multiple recommendations regarding use of electronic health records, including flagging of at-risk family members and utilization of state-level health information exchanges. The paper contains an update of policy developments and happenings for all three Tier 1 conditions, as well as identified gaps. Conclusions: Implementation of cascade screening of family members for HBOC and FH, and universal screening for LS in CRC tumors has reached a point of readiness within the U.S., with creative solutions at hand. Facilitating factors such as screening coverage through the Patient Protection and Affordable Care Act, and state health information exchanges can be tapped. Collaboration is needed between public health departments, health care systems, disease advocacy groups, and industry to fully realize Tier 1 genetic screening. State health department and disease networks currently engaged in Tier 1 screening can serve as models for the launch of new initiatives. Full article
(This article belongs to the Special Issue Implementation of Public Health Genomics)
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Open AccessCommentary
Screening for Familial Hypercholesterolemia in Children: What Can We Learn From Adult Screening Programs?
Healthcare 2015, 3(4), 1018-1030; https://doi.org/10.3390/healthcare3041018 - 26 Oct 2015
Cited by 8
Abstract
Familial hypercholesterolemia (FH), an autosomal dominant atherosclerotic disease, is a common monogenic subtype of cardiovascular disease. Patients with FH suffer an increased risk of early onset heart disease. Early identification of abnormally elevated cholesterol signpost clinicians to interventions that will significantly decrease risk [...] Read more.
Familial hypercholesterolemia (FH), an autosomal dominant atherosclerotic disease, is a common monogenic subtype of cardiovascular disease. Patients with FH suffer an increased risk of early onset heart disease. Early identification of abnormally elevated cholesterol signpost clinicians to interventions that will significantly decrease risk of related morbidity and mortality. Cascade genetic testing can subsequently identify at-risk relatives. Accordingly, a number of screening approaches have been implemented for FH in countries including the UK and the Netherlands. However, incomplete identification of cases remains a challenge. Moreover, the potential for early intervention is now raising questions about the value of implementing universal cholesterol screening approaches that focus on children. In this report, we briefly discuss the potential benefit of such screening. Additionally, we submit that ever increasing genome technological capability will force a discussion of including genetic tests in these screening programs. We discuss the opportunities and challenges presented by such an approach. We close with recommendations that the success of such screening endeavors will rely on a better integrated practice model in public health genomics that bridges stakeholders including practitioners in primary care, clinical genetics and public health. Full article
(This article belongs to the Special Issue Implementation of Public Health Genomics)
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