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Genomic Applications to Promote Public Health in the Context of Health Disparities

A special issue of International Journal of Environmental Research and Public Health (ISSN 1660-4601). This special issue belongs to the section "Digital Health".

Deadline for manuscript submissions: closed (15 November 2019) | Viewed by 26062

Special Issue Editors


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Guest Editor
Behavioral Sciences and Health Education, Rollins School of Public Health, Emory University
Interests: Translational research related to genomics; health disparities; and public health; Raising understanding of complexity of genomic influences on health; Population-wide dissemination of genomics-informed health promotion innovation.

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Guest Editor
Behavioral Sciences and Health Education, Rollins School of Public Health, Emory University
Interests: communication of genetic information; dissemination of evidence-based genetic screening applications

Special Issue Information

Dear Colleagues,

We are organizing a Special Issue for the International Journal of Environmental Research and Public Health on “Genomic Applications to Promote Public Health in the Context of Health Disparities”. For detailed information on the journal, I refer you to https://www.mdpi.com/journal/ijerph.

The field of public health genomics focuses on the effective translation of emerging genomic knowledge for health promotion and disease prevention. Evidence-based guidelines now support family history-based screening for some inherited conditions (e.g., hereditary breast cancer). However, early translation efforts have had limited reach outside of specialty clinical settings in metropolitan areas and to underrepresented minorities. The concern is that this limited reach will exacerbate existing disparities. To avert this, there are a number of important areas to address:

  • Intervention research to evaluate approaches to expand the reach of genomic screening programs to minority populations and those living in rural settings.
  • Communication research to evaluate strategies for conveying genomic risk in a broad array of settings.
  • Community engagement research to evaluate partnerships to extend access to and uptake of genomic applications
  • Dissemination and Implementation research to understand the adoption and sustainability of guideline implementation and other genomic applications for public health.

The keywords we have listed below are meant to suggest a few of the many possibilities. Inquiries regarding potential topics are welcome.

Dr. Colleen M. McBride
Dr. Yue Guan
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 submissions that pass pre-check are 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. International Journal of Environmental Research and Public Health is an international peer-reviewed open access monthly 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 2500 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

  • access to genetic services
  • common disease genetics
  • community-based research
  • ethnic/racial minorities
  • evaluation of genetic/genomic tools for public health
  • genetic communication
  • genetic education
  • health disparities
  • rural health
  • population-based genetic risk screening
  • public health genetics

Published Papers (7 papers)

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19 pages, 3399 KiB  
Article
Improving Screening Uptake among Breast Cancer Survivors and Their First-Degree Relatives at Elevated Risk to Breast Cancer: Results and Implications of a Randomized Study in the State of Georgia
by Joseph Lipscomb, Cam Escoffery, Theresa W. Gillespie, S. Jane Henley, Robert A. Smith, Toni Chociemski, Lyn Almon, Renjian Jiang, Xi Sheng, Michael Goodman and Kevin C. Ward
Int. J. Environ. Res. Public Health 2020, 17(3), 977; https://doi.org/10.3390/ijerph17030977 - 04 Feb 2020
Cited by 7 | Viewed by 3757
Abstract
Women diagnosed with breast cancer at a relatively early age (≤45 years) or with bilateral disease at any age are at elevated risk for additional breast cancer, as are their female first-degree relatives (FDRs). We report on a randomized trial to increase adherence [...] Read more.
Women diagnosed with breast cancer at a relatively early age (≤45 years) or with bilateral disease at any age are at elevated risk for additional breast cancer, as are their female first-degree relatives (FDRs). We report on a randomized trial to increase adherence to mammography screening guidelines among survivors and FDRs. From the Georgia Cancer Registry, breast cancer survivors diagnosed during 2000–2009 at six Georgia cancer centers underwent phone interviews about their breast cancer screening behaviors and their FDRs. Nonadherent survivors and FDRs meeting all inclusion criteria were randomized to high-intensity (evidence-based brochure, phone counseling, mailed reminders, and communications with primary care providers) or low-intensity interventions (brochure only). Three and 12-month follow-up questionnaires were completed. Data analyses used standard statistical approaches. Among 1055 survivors and 287 FDRs who were located, contacted, and agreed to participate, 59.5% and 62.7%, respectively, reported breast cancer screening in the past 12 months and were thus ineligible. For survivors enrolled at baseline (N = 95), the proportion reporting adherence to guideline screening by 12 months post-enrollment was similar in the high and low-intensity arms (66.7% vs. 79.2%, p = 0.31). Among FDRs enrolled at baseline (N = 83), screening was significantly higher in the high-intensity arm at 12 months (60.9% vs. 32.4%, p = 0.03). Overall, about 72% of study-eligible survivors (all of whom were screening nonadherent at baseline) reported screening within 12 months of study enrollment. For enrolled FDRs receiving the high-intensity intervention, over 60% reported guideline screening by 12 months. A major conclusion is that using high-quality central cancer registries to identify high-risk breast cancer survivors and then working closely with these survivors to identify their FDRs represents a feasible and effective strategy to promote guideline cancer screening. Full article
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13 pages, 593 KiB  
Article
Autism Spectrum Disorders: Prenatal Genetic Testing and Abortion Decision-Making among Taiwanese Mothers of Affected Children
by Wei-Ju Chen, Shixi Zhao, Tse-Yang Huang, Oi-Man Kwok and Lei-Shih Chen
Int. J. Environ. Res. Public Health 2020, 17(2), 476; https://doi.org/10.3390/ijerph17020476 - 11 Jan 2020
Cited by 3 | Viewed by 6595
Abstract
With the rapid growing rate of autism spectrum disorders (ASDs), prenatal genetic testing (PGT) has been offered to detect various genomic disorders, including ASD, in Taiwan. However, disparities exist in this area, as there is limited research on factors associated with PGT utilization [...] Read more.
With the rapid growing rate of autism spectrum disorders (ASDs), prenatal genetic testing (PGT) has been offered to detect various genomic disorders, including ASD, in Taiwan. However, disparities exist in this area, as there is limited research on factors associated with PGT utilization and relevant decision-making that may guide the regulations and ethical guidelines for culturally appropriate PGT services in Taiwan. This study proposed a comprehensively integrated theoretical framework for examining the intention to undergo PGT to detect ASD susceptibility genes and subsequent abortion decision-making among Taiwanese mothers of children affected by ASD. Survey data from 333 mothers of children with ASD in 236 elementary schools with special education services in Taiwan were collected and analyzed using structural equation modeling. Approximately two-thirds of the participants (66.6%) would undergo PGT to detect ASD susceptibility genes; more than half (53.1%) would terminate the hypothetically ASD-affected pregnancy. Abortion intention was associated with age, religion, attitudes toward PGT for detecting ASD susceptibility genes, and willingness to undergo such PGT. This study explores the potential impacts of PGT on Taiwanese society, and the findings are applicable to countries heavily influenced by Chinese culture, areas with Asian immigrants, and Western countries with such PGT services and/or research available. Full article
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8 pages, 391 KiB  
Article
Black Women’s Confidence in the Genetic Information Nondiscrimination Act
by Arnethea L. Sutton, Alesha Henderson, Alejandra Hurtado-de-Mendoza, Erin Tanner, Mishaal Khan, John Quillin and Vanessa B. Sheppard
Int. J. Environ. Res. Public Health 2019, 16(24), 5112; https://doi.org/10.3390/ijerph16245112 - 14 Dec 2019
Cited by 7 | Viewed by 2922
Abstract
Black women at-risk for hereditary breast and ovarian cancer (HBOC) continue to underutilize genetic counseling and testing (GCT). One reason for this disparity is a fear of discrimination from insurance companies if identified as high-risk. The Genetic Information Nondiscrimination Act (GINA) was enacted [...] Read more.
Black women at-risk for hereditary breast and ovarian cancer (HBOC) continue to underutilize genetic counseling and testing (GCT). One reason for this disparity is a fear of discrimination from insurance companies if identified as high-risk. The Genetic Information Nondiscrimination Act (GINA) was enacted to protect against this type of discrimination; however, Black women’s levels of confidence in this law are unknown. In this descriptive study, we sought to (1) assess Black women’s confidence in the GINA law and (2) identify multilevel factors related to their confidence in GINA. Ninety-four Black women at-risk of HBOC completed surveys that assessed intrapersonal, interpersonal, and structural factors. Multiple regression analysis determined factors associated with confidence in GINA. Most women were ≤50 years of age (66.0%) and about half never had a cancer diagnosis (51.1%). Confidence in GINA was moderate (mean = 10.67; standard deviation = 2.54; range = 5–15). Women who valued GCT reported more confidence in GINA (β = 0.345; CI 0.017 to 0.673; p = 0.040). Lack of confidence in GINA may serve as a barrier to seeking GCT. Efforts to increase the perceived value of GCT among Black women could be benefited by increasing awareness of national efforts towards privacy protections of genetic information. Full article
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16 pages, 688 KiB  
Article
Designing and Evaluating a Digital Family Health History Tool for Spanish Speakers
by Maria Cerda Diez, Dharma E. Cortés, Michelle Trevino-Talbot, Candice Bangham, Michael R. Winter, Howard Cabral, Tricia Norkunas Cunningham, Diana M. Toledo, Deborah J. Bowen, Michael K. Paasche-Orlow, Timothy Bickmore and Catharine Wang
Int. J. Environ. Res. Public Health 2019, 16(24), 4979; https://doi.org/10.3390/ijerph16244979 - 07 Dec 2019
Cited by 9 | Viewed by 3068
Abstract
Digital family health history tools have been developed but few have been tested with non-English speakers and evaluated for acceptability and usability. This study describes the cultural and linguistic adaptation and evaluation of a family health history tool (VICKY: VIrtual Counselor for Knowing [...] Read more.
Digital family health history tools have been developed but few have been tested with non-English speakers and evaluated for acceptability and usability. This study describes the cultural and linguistic adaptation and evaluation of a family health history tool (VICKY: VIrtual Counselor for Knowing Your Family History) for Spanish speakers. In-depth interviews were conducted with 56 Spanish-speaking participants; a subset of 30 also participated in a qualitative component to evaluate the acceptability and usability of Spanish VICKY. Overall, agreement in family history assessment was moderate between VICKY and a genetic counselor (weighted kappa range: 0.4695 for stroke—0.6615 for heart disease), although this varied across disease subtypes. Participants felt comfortable using VICKY and noted that VICKY was very likeable and possessed human-like characteristics. They reported that VICKY was very easy to navigate, felt that the instructions were very clear, and thought that the time it took to use the tool was just right. Spanish VICKY may be useful as a tool to collect family health history and was viewed as acceptable and usable. The study results shed light on some cultural differences that may influence interactions with family history tools and inform future research aimed at designing and testing culturally and linguistically diverse digital systems. Full article
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14 pages, 351 KiB  
Article
Culturally Targeted Video Improves Psychosocial Outcomes in Latina Women at Risk of Hereditary Breast and Ovarian Cancer
by Alejandra Hurtado-de-Mendoza, Kristi D. Graves, Sara Gómez-Trillos, Pilar Carrera, Claudia Campos, Lyndsay Anderson, George Luta, Beth N. Peshkin, Marc D. Schwartz, Ana-Paula Cupertino, Nathaly Gonzalez and Vanessa B. Sheppard
Int. J. Environ. Res. Public Health 2019, 16(23), 4793; https://doi.org/10.3390/ijerph16234793 - 29 Nov 2019
Cited by 16 | Viewed by 3595
Abstract
Latina women at risk of hereditary breast and ovarian cancer (HBOC) have lower awareness, knowledge, and use of genetic counseling and testing services (GCT) than non-Latina Whites. Few interventions have been developed to reduce these disparities among at-risk Latinas. This pilot study assessed [...] Read more.
Latina women at risk of hereditary breast and ovarian cancer (HBOC) have lower awareness, knowledge, and use of genetic counseling and testing services (GCT) than non-Latina Whites. Few interventions have been developed to reduce these disparities among at-risk Latinas. This pilot study assessed the impact of a culturally targeted narrative video developed by our team. The study included 40 Latina immigrants living in the United States who were at risk of HBOC, including affected and unaffected women. We assessed pre-post differences in psychosocial outcomes. Participants were 47.35 years old on average (SD = 9.48). Most (70%) were unaffected with cancer, had an annual income of $40,000 or less (65%), an education of High School or less (62.5%), and were uninsured (77.5%). The video significantly enhanced knowledge (p < 0.001), positive attitudes (p < 0.05), anticipatory positive emotions (p < 0.05), and intentions to participate in counseling (p < 0.001). Importantly, the video also significantly reduced negative attitudes (p < 0.05), and attitudinal ambivalence (p < 0.001). The culturally targeted video shows preliminary evidence in improving psychosocial outcomes related to GCT uptake in Latinas at risk for HBOC. This intervention is a promising easily-disseminable strategy to address disparities in GCT utilization. Full article
17 pages, 1364 KiB  
Article
Blending Insights from Implementation Science and the Social Sciences to Mitigate Inequities in Screening for Hereditary Cancer Syndromes
by Laura Senier, Colleen M. McBride, Alex T. Ramsey, Vence L. Bonham and David A. Chambers
Int. J. Environ. Res. Public Health 2019, 16(20), 3899; https://doi.org/10.3390/ijerph16203899 - 15 Oct 2019
Cited by 8 | Viewed by 3501
Abstract
Genomic screening to identify people at high risk for adult-onset hereditary conditions has potential to improve population health. However, if not equitably accessible, genomics-informed screening programs will exacerbate existing health inequities or give rise to new ones. To realize the disease prevention potential [...] Read more.
Genomic screening to identify people at high risk for adult-onset hereditary conditions has potential to improve population health. However, if not equitably accessible, genomics-informed screening programs will exacerbate existing health inequities or give rise to new ones. To realize the disease prevention potential of these screening tools, we need strategies to broaden their reach. We propose a conceptual framework that merges insights from implementation science and sociological research on health inequities. Our framework does three things: first, it broadens the arenas of action beyond those typically addressed in implementation science frameworks; second, it argues for recruiting more diverse partners to share the work of implementation and dissemination; and third, it shows how implementation activities can be coordinated more effectively among those partners. We use screening for hereditary breast and ovarian cancers (HBOC) as a case to illustrate how this enhanced framework could guide implementation science and distribute the benefits of genomic medicine more equitably. Although our example is specific to genomics, this approach is more broadly applicable to the field of implementation science. Coordinated action among multiple stakeholders could translate a host of new technologies from the bench to the trench without creating new inequities or exacerbating existing ones. Full article
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9 pages, 298 KiB  
Commentary
Regarding the Yin and Yang of Precision Cancer- Screening and Treatment: Are We Creating a Neglected Majority?
by Colleen M. McBride, Yue Guan and Jennifer L. Hay
Int. J. Environ. Res. Public Health 2019, 16(21), 4168; https://doi.org/10.3390/ijerph16214168 - 29 Oct 2019
Cited by 5 | Viewed by 2236
Abstract
In this commentary, we submit that the current emphasis of precision cancer screening and treatment (PCST) has been to provide and interpret the implications of “positive” screening results for those deemed to be at greatest risk for cancer or most likely to benefit [...] Read more.
In this commentary, we submit that the current emphasis of precision cancer screening and treatment (PCST) has been to provide and interpret the implications of “positive” screening results for those deemed to be at greatest risk for cancer or most likely to benefit from targeted treatments. This is an important, but proportionately small target group, regardless of the cancer context. Overlooked by this focus is the larger majority of those screened who receive “negative” results. We contend that for optimal dissemination of PCST, the complement of positive and negative results be viewed as an inseparable yin–yang duality with the needs of those who receive negative screening results viewed as important as those deemed to be at highest risk or derive targeted treatment benefit. We describe three areas where communication of negative PCST results warrant particular attention and research consideration: population-based family history screening, germline testing for hereditary cancer syndromes, and tumor testing for targeted cancer treatment decision-making. Without thoughtful consideration of the potential for negative results to have psychological and behavioral influences, there is a potential to create a “neglected majority”. This majority may be inclined to misinterpret results, disseminate inaccurate information to family, dismiss the credibility of results, or become disillusioned with existing medical treatments. Full article
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