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Simple Summary: There is a proliferation of precision approaches to cancer prevention for which personalized cancer risk information is used to motivate protective behaviors. Exploration of this potential is understudied in the skin cancer context. We examined changes in skin cancer-related behaviors, distress, and beliefs over time after MC1R genetic testing and receipt of average-risk or higher-risk personalized feedback in 568 non-Hispanic White and 463 Hispanic participants. We found those receiving higher-risk feedback initially had reduced weekend hours in the sun and modestly increased skin cancer worry, both of which dissipated over time. Those receiving higher-risk feedback reported a durable increased perceived risk of skin cancer compared with those receiving average-risk feedback. These results confirm the positive motivational impact of precision prevention on short-term behavior and durable impacts on skin cancer beliefs that sustain such behavior change. Background. Little is known about the impact of low- to moderate-penetrance genetic testing for skin cancer, which is a promising approach to skin cancer prevention. Methods. To address this deficit, we conducted an analysis comparing changes in skin cancer-related behaviors, distress, and beliefs measured at a baseline and twice after the receipt of skin cancer precision prevention materials containing MC1R risk feedback (higher or average risk) among 568 non-Hispanic White (NHW) and 463 Hispanic participants. Results. Regression analyses identified decreased average weekend hours in the sun (β = −0.25; 95% CI, −0.46–[−0.04]) and increased average skin cancer worry (β = 0.09; 95% CI, 0.01–0.18) among higher-risk NHW participants at the first but not second follow-up. On average, higher-risk NHW and Hispanic participants reported a persistent increased risk of developing skin cancer compared with similar others (β = 0.49; 95% CI, 0.33, 0.65; β = 0.42; 95% CI, 0.17, 0.67, respectively). Conclusions.MC1R genetic testing resulted in durable elevated skin cancer risk perceptions and shorter-term behavior changes among higher-risk individuals. Although higher-risk participants reported slight heightened worry at the first follow-up, the overall levels of skin cancer-related distress were low. The lack of sustained behavioral changes highlights the need for intervention reinforcement in precision prevention approaches to reduce cancer risk. [ABSTRACT FROM AUTHOR]

Background: The MENA region is disproportionately affected by genetic disease. The aim of this research is to scope the region for evidence of genetic services and public health interventions to identify geographic gaps, and to provide a descriptive overview of interventions to identify knowledge gaps. Methods: This study is conducted as a scoping review and follows the Arksey & O'Malley scoping review framework. Results: Seventy-six articles spanning 16 MENA nations met inclusion criteria. Studies included interventions in the form of genetic service provision (n=28), as well as comprehensive programs including pilot programs (n=7), community-based genetics programs (n=6) national-level prevention programs (n=18), and national-level mandatory programs (n=17). Conclusions: There is an imbalanced response to genetic disease burdens across the MENA region. More research is warranted where interventions are scarce, particularly to inform development of pilot community-based programs. There is also a need for better monitoring and evaluation of existing nation-wide programs. [ABSTRACT FROM AUTHOR]

Simple Summary: This paper presents important information for the implementation of cascade screening programs for hereditary breast and ovarian cancer (HBOC) and Lynch syndrome (LS). The study examined theory-based predictors of index cases' intention to invite relatives to a family-based cohort, rates of cascade testing among relatives, and preferences of those who carry a pathogenic variant for patient- or provider-mediated communication of testing results to untested relatives. While index cases are equally likely to invite relatives of both genders, males are more likely to not respond to the invitation, especially for HBOC. Findings have implications for tailoring cascade screening programs. Cascade screening for Tier 1 cancer genetic conditions is a significant public health intervention because it identifies untested relatives of individuals known to carry pathogenic variants associated with hereditary breast and ovarian cancer (HBOC) and Lynch syndrome (LS). The Swiss CASCADE is a family-based, open-ended cohort, including carriers of HBOC- and LS-associated pathogenic variants and their relatives. This paper describes rates of cascade screening in relatives from HBOC- and LS- harboring families, examines carriers' preferences for communication of testing results, and describes theory-based predictors of intention to invite relatives to a cascade screening program. Information has been provided by 304 index cases and 115 relatives recruited from September 2017 to December 2021. On average, 10 relatives per index case were potentially eligible for cascade screening. Approximately 65% of respondents wanted to invite relatives to the cohort, and approximately 50% indicated a preference for patient-mediated communication of testing results, possibly with the assistance of digital technology. Intention to invite relatives was higher for first- compared to second- and third-degree relatives, but was not different between syndromes or based on relatives' gender. The family environment and carrying pathogenic variants predicts intention to invite relatives. Information helps optimize delivery of tailored genetic services. [ABSTRACT FROM AUTHOR]

Familial hypercholesterolemia (FH) is a genetic condition which causes elevated low-density lipoprotein cholesterol from birth. With a prevalence of 1 in 250 and the availability of effective treatments, the diagnostic rate of <1 to 10% is unacceptably low. Screening for FH is supported by multiple organizations, but it has not been broadly adopted and implemented across the USA. To investigate the implementation of FH screening, key informants were recruited from across the USA for their expertise in FH-related literature, guidelines, public health, and/or advocacy to complete -semistructured interviews guided by implementation science (RE-AIM framework). Sixteen semistructured interviews were analyzed with directed content and thematic analyses, yielding specific barriers and recommendations to improve FH screening. Barriers to FH screening included patient recruitment and participation, equitable access to healthcare, provider discomfort with screening and treating FH, provider burden, lack of public health and legislative support, FH awareness, guideline complexity, facilitation of genetic testing and cascade screening, and lack of coordination between stakeholders. Awareness, engagement, communication, and collaboration between stakeholders is integral to successful FH screening. Individualized plans will be required at national, regional, and institutional levels. FH screening implementation can be achieved through practice facilitation, streamlined screening approaches, electric medical record tools, and consensus guidelines to increase screening adoption and consistent delivery. Reliable funding and established lines of communication between stakeholders can maintain efforts as FH screening progresses. [ABSTRACT FROM AUTHOR]

The field of genetic epidemiology is relatively young and brings together genetics, epidemiology, and biostatistics to identify and implement the best study designs and statistical analyses for identifying genes controlling risk for complex and heterogeneous diseases (i.e., those where genes and environmental risk factors both contribute to etiology). The field has moved quickly over the past 40 years partly because the technology of genotyping and sequencing has forced it to adapt while adhering to the fundamental principles of genetics. In the last two decades, the available tools for genetic epidemiology have expanded from a genetic focus (considering 1 gene at a time) to a genomic focus (considering the entire genome), and now they must further expand to integrate information from other "-omics" (e.g., epigenomics, transcriptomics as measured by RNA expression) at both the individual and the population levels. Additionally, we can now also evaluate gene and environment interactions across populations to better understand exposure and the heterogeneity in disease risk. The future challenges facing genetic epidemiology are considerable both in scale and techniques, but the importance of the field will not diminish because by design it ties scientific goals with public health applications. [ABSTRACT FROM AUTHOR]

Newborn Screening provides a critical case-study for the cross-cultural analysis of globalizing medical technologies. While the evidence-base that informs decisions of which conditions to screen is internationally accepted, the number of disorders screened for varies widely between countries. In this article, we explore the different ‘gene worlds’ that constitute newborn screening programs in Israel and the US. After situating the program in both countries, we focus on two critical differences: the relationship of newborn screening to prenatal and preconception screening and the countries’ willingness to screen high-risk ethnic populations. We describe how the different investment in newborn screening rests on the prioritization of prevention. Because of negative experiences with racial genetic carrier screening for sickle cell anemia and the political sensitivity related to abortion, the US built its genetic screening programs around newborn screening with an aim of secondary prevention. Israel instead invested in a broad range of genetic technologies aiming for primary prevention in the preconceptional and prenatal periods. We conclude by discussing the broader relevance of gene worlds, in which prospective parents, state agencies, advocacy groups, and medical professionals coalesce around country-specific priorities, to the sociological understanding of divergent evolution of medical technologies. [ABSTRACT FROM AUTHOR]

Background: An international workshop on cancer predisposition cascade genetic screening for hereditary breast and ovarian cancer (HBOC) and Lynch syndrome (LS) took place in Switzerland, with leading researchers and clinicians in cascade screening and hereditary cancer from different disciplines. The purpose of the workshop was to enhance the implementation of cascade genetic screening in Switzerland. Participants discussed the challenges and opportunities associated with cascade screening for HBOC and LS in Switzerland (CASCADE study); family implications and the need for family-based interventions; the need to evaluate the cost-effectiveness of cascade genetic screening; and interprofessional collaboration needed to lead this initiative. Methods: The workshop aims were achieved through exchange of data and experiences from successful cascade screening programs in the Netherlands, Australia, and the state of Ohio, USA; Swiss-based studies and scientific experience that support cancer cascade screening in Switzerland; programs of research in psychosocial oncology and family-based studies; data from previous cost-effectiveness analyses of cascade genetic screening in the Netherlands and in Australia; and organizational experience from a large interprofessional collaborative. Scientific presentations were recorded and discussions were synthesized to present the workshop findings. Results: The key elements of successful implementation of cascade genetic screening are a supportive network of stakeholders and connection to complementary initiatives; sample size and recruitment of relatives; centralized organization of services; data-based cost-effectiveness analyses; transparent organization of the initiative; and continuous funding. Conclusions: This paper describes the processes and key findings of an international workshop on cancer predisposition cascade screening, which will guide the CASCADE study in Switzerland. [ABSTRACT FROM AUTHOR]

Background: The use of genome-wide (whole genome or exome) sequencing for population-based newborn screening presents an opportunity to detect and treat or prevent many more serious early-onset health conditions than is possible today. Methods: The Paediatric Task Team of the Global Alliance for Genomics and Health's Regulatory and Ethics Working Group reviewed current understanding and concerns regarding the use of genomic technologies for population-based newborn screening and developed, by consensus, eight recommendations for clinicians, clinical laboratory scientists, and policy makers. Results: Before genome-wide sequencing can be implemented in newborn screening programs, its clinical utility and cost-effectiveness must be demonstrated, and the ability to distinguish disease-causing and benign variants of all genes screened must be established. In addition, each jurisdiction needs to resolve ethical and policy issues regarding the disclosure of incidental or secondary findings to families and ownership, appropriate storage and sharing of genomic data. Conclusion: The best interests of children should be the basis for all decisions regarding the implementation of genomic newborn screening. [ABSTRACT FROM AUTHOR]

Specialization within genetic counseling is apparent, with 29 primary specialties listed in the National Society of Genetic Counselors' 2012 Professional Status Survey (PSS). PSS results show a steady proportion of genetic counselors primarily involved in public health, yet do not identify all those performing public health activities. Little is known about the skills needed to perform activities outside of 'traditional' genetic counselor roles and the expertise needed to execute those skills. This study aimed to identify genetic counselors engaging in public health activities, the skills used, and the most influential sources of learning for those skills. Participants ( N = 155) reported involvement in several public health categories: (a) Education of Public and/or Health Care Providers ( n = 80, 52 %), (b) Population-Based Screening Programs ( n = 70, 45 %), (c) Lobbying/Public Policy ( n = 62, 40 %), (d) Public Health Related Research ( n = 47, 30 %), and (e) State Chronic Disease Programs ( n = 12, 8 %). Regardless of category, 'on the job' was the most common primary source of learning. Genetic counseling training program was the most common secondary source of learning. Results indicate that the number of genetic counselors performing public health activities is likely higher than PSS reports, and that those who may not consider themselves 'public health genetic counselors' do participate in public health activities. Genetic counselors learn a diverse skill set in their training programs; some skills are directly applicable to public health genetics, while other public health skills require additional training and/or knowledge. [ABSTRACT FROM AUTHOR]

The Western States Genetic Services Collaborative (WSGSC) recognized the need for clear and understandable information about the Affordable Care Act (ACA) for families throughout the life course. The genetic counselors working in the WSGSC developed, tested, and implemented a web resource () to help families navigate information about the ACA tailored to their life situation. The training and experience of genetic counselors provide the skills needed to translate complicated information, like that of the ACA, into formats that the general public can comprehend. The website went public in October 2013, and it has been positively received. The development of this website is a good case study in how genetic counseling skills can be applied to public health education and improving health literacy. [ABSTRACT FROM AUTHOR]

This special issue of the Journal of Genetic Counseling is dedicated to public health genetics and genomics. The seventeen papers featured in this issue span such topics as genetic counselors in public health roles, newborn screening, population screening, ethics, and health beliefs and behaviors. In this introduction to the special issue, we review some history of public health genetics and genomics, present the Centers for Disease Control and Prevention's '10 Essential Public Health Services' with associated geneticsspecificrecommendations and priorities, and briefly overview how each article ties into the world of public health genetics and genomics. We hope this issue encourages genetic counselors to visualize their everexpanding and important roles in public health genetics and genomics, as well as their contributions to improving population health. [ABSTRACT FROM AUTHOR]

Copyright of Ethik in der Medizin is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: The objective of this study was to identify factors involved in the success of 2 well-established population-based carrier screening programs – Tay-Sachs disease (TSD) in Ashkenazi Jews and β-thalassemia in Sardinia and Cyprus – and to assess the potential for success of a population-based cystic fibrosis (CF) carrier screening strategy using these factors. Methods: We performed a literature review and key informant interviews. Results: Factors involved in the success of TSD and β-thalassemia carrier screening programs include disease characteristics (well-defined population at risk, severe disease with predictable course, availability of effective treatment), test characteristics (high sensitivity, straightforward interpretation of results), and community characteristics (involvement of community, support of families and advocacy groups, consensus in favor of avoiding affected births). Current CF screening strategies include few of the factors listed above. Unlike TSD and β-thalassemia, the purpose of current CF carrier screening strategies is informed reproductive decision-making, without an explicit goal of reducing disease incidence. Conclusion: When compared to TSD and β-thalassemia, CF is a less favorable candidate for population-based carrier screening. Because of its different purpose, CF carrier screening will require different measures of success than those used for TSD and β-thalassemia carrier screening, and a consensus on the value or success of CF carrier screening may be difficult to achieve. Copyright © 2009 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Summary: The clinical utility of many emerging genetic technologies has yet to be established. For many new genetic tests, no practice guidelines are available to help clinicians decide when and how to use them in practice. The clinical and public health implications of new genetic technologies are easiest to evaluate when these tests are compared with other genetic tests, including those already well established in clinical practice. Genetic tests can be divided into different categories based on their intent as follows: (1) to establish a diagnosis (genetic diagnostic tests), (2) to classify disease processes to assist management (gene expression profiling), (3) to predict drug response or side effects (pharmacogenomic tests), and (4) to predict susceptibility to disease (genetic susceptibility testing). As new genetic tests emerge, their translation into practice will depend on their performance based on laboratory standards, but also on their ability to enhance prevention or assist clinicians in diagnosing and treating patients. This article reviews the clinical and public health implications of different types of genetic tests, the evaluation of genetic tests from a public health perspective, and the need for partnership to achieve the potential for benefit of new genetic technologies. [ABSTRACT FROM AUTHOR]

This commentary illustrates and discusses potential research directions for sociologists and anthropologists interested in the field of community genetics and its emerging networks of individuals genetically at risk. Community genetics—the application of medical genetics in community settings for the benefit of individuals—also involves social issues of lay-professional misunderstandings (and more recently also the different perspectives of various expert communities), stigmatization, discrimination, and medicalization. Focusing on a socio-anthropological perspective regarding the views and disagreements surrounding the definition and scope of community genetics, I overview several epistemological, methodological, and practical contributions that such perspective can offer to the study of community genetics. [ABSTRACT FROM AUTHOR]

Abstract: Genome wide association studies can potentially identify the genetic causes behind the majority of human diseases. With the advent of more advanced genotyping techniques, there is now an explosion of data gathered on single nucleotide polymorphisms (SNPs). The need exists for an integrated system that can provide up-to-date functional annotation information on SNPs. We have developed the SNP Integration Tool (SNPit) system to address this need. Built upon a federated data integration system, SNPit provides current information on a comprehensive list of SNP data sources. Additional logical inference analysis was included through an inference engine plug in. The SNPit web servlet is available online for use. SNPit allows users to go to one source for up-to-date information on the functional annotation of SNPs. A tool that can help to integrate and analyze the potential functional significance of SNPs is important for understanding the results from genome wide association studies. [Copyright &y& Elsevier]

Is genetic information different from other types of medical information and is therefore a special treatment required because of its special features? This question has been discussed since the mid-1990s under the label of genetic exceptionalism. This article discusses the essential arguments of the genetic exceptionalism discourse and analyzes their ethical reach. The primary question of this paper is whether the arguments of the current debate, with its predominantly scientific focus, are capable of solving the ethical questions raised by genetic exceptionalism in such a way as to do justice to the normative scope and epistemological complexity. The author argues that the current genetic exceptionalism discourse is restrictive and offers little opportunity for exploring viable and ethically justifiable solutions regarding the implementation of genetic information in medical practice. Discourses on genetic exceptionalism should not only adhere to scientifically consistent criteria but also reflect individual perceptions and cultural values, enriched by adequate historical reflection. [ABSTRACT FROM AUTHOR]

This paper discusses the lessons learned by our collaborative, transdisciplinary team while developing a pilot/demonstration educational health campaign geared toward underserved communities in the Columbus, Ohio metropolitan area. The objective of the current study was to determine the feasibility of a campaign to raise awareness of the association between family history and cancer risk and to inform individuals of the availability of Jameslink, an online familial cancer risk assessment tool. The research team included members of The Ohio State University Primary Care Research Institute, which includes a unique combination of expertise in Genetics, Behavioral Science, Social and Health Psychology, Communication, Medicine, and Methodology. The experience of the team in developing university and community partnerships, identifying stakeholders and formulating campaign messages is described. Groups who aided in this process as well as the perspectives they brought to the project are discussed. The lessons learned may be helpful to those developing similar community health projects. Copyright © 2008 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Copyright of Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The integration of genomics into public health research, policy and practice will be one of the most important future challenges that our health care systems will face. The next decade will provide a window of opportunity to establish infrastructures that will enable the scientific advances to be translated into evidence-based policies and interventions that improve population health. Approaches for national, European and international institutionalization of public health genomics are shown that aim to champion these challenges. Copyright © 2006 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

The article reports on research and practice opportunities at the intersection of health behavior, health education, and genomics. It is noted that researchers and practitioners in health behavior and health education (HBHE) can play a crucial leadership role in the integration of genomic development to enhance the health of the public. In proceeding with the study, the authors summarized the existing evidence in the literature relating to the public's use of genetic services, the impact of genetic testing, and the effectiveness of genetic counseling.

The article underlines the essential role of health behavior and health education (HBHE) research in public health genetics. The possible role of HBHE within this consideration is presented through the continuum between research and practice and the continuum between individual/personalized medicine and population health. In proceeding with the study, the authors presented an overview of issues arising from the employment of genetic information to enhance public's health, and they provided a framework needed in comprehending the multidimensional role of HBHE research in translating genetic research into medical and public health practice.

This special issue of Community Genetics reviews some of the most important developments in medical genetics in key countries of Latin America. Contributions to this issue were prepared for a special consultation of the World Health Organization held in Porto Alegre, Brazil, on June 19, 2003. Latin America is a region of mediumto low-income countries characterized by socioeconomic problems, with large segments of the population living in poverty and extreme disparities in the distribution of wealth. A rise in chronic diseases typical of the processes of industrialization and urbanization coexists with the persistence of nutritional and infectious diseases characteristic of poverty and underdevelopment. Over the last 2 decades of the 20th century, birth defects and genetic disorders have increased their share of morbidity and mortality, and tertiary-care-based genetic services have developed in urban areas. Although privatization of health care is eroding the public sector, the public institutions continue to be the main providers of genetic services for the bulk of the population and the leaders in research. The development of clinical genetics in the region is concentrated in tertiary-care centers in large cities, although a recent trend began extending genetic services to the community. [ABSTRACT FROM AUTHOR]

Simple Summary: Inherited genetic variation at the MC1R gene is associated with increased risk of melanoma among non-Hispanic whites (NHWs), especially among those with skin and pigmentation characteristics that are associated with average to lower melanoma risk, for whom MC1R genetic testing may reveal unrecognized melanoma risk. We conducted a randomized trial to examine whether providing MC1R genetic risk information together with precision prevention materials would increase primary and secondary melanoma preventive behaviors compared to providing generic prevention materials only. We found that among participants with MC1R variants associated with higher risk of melanoma, the intervention increased shade-seeking or using an umbrella, increased wearing sleeved shirts, and decreased sunburns among their young children. We conclude that MC1R genetic testing and precision prevention materials may increase the practice of some sun-protective behaviors. Inherited variation at MC1R is associated with elevated melanoma risk among non-Hispanic whites (NHWs). MC1R genetic testing may unmask previously unrecognized disease risk, especially among individuals with few melanoma phenotypic risk factors. We recruited NHW individuals with limited phenotypic risk factors from two primary care clinics in west-central Florida. Participants (n = 1134) were randomized within MC1R genotype risk group (average/higher) to receive mailed precision prevention (i.e., intervention) or generic prevention materials. Participants reported hours of weekday and weekend sun exposure, frequency of intentional outdoor tanning and sun protection behaviors, number of sunburns, indoor tanning episodes, and skin examinations at baseline, and after 6 and 12 months. Among MC1R higher-risk participants, the intervention increased the likelihood of often or always wearing a shirt with sleeves (OR = 1.49, p = 0.03) and seeking shade or using an umbrella (OR = 1.42, p = 0.046), and it decreased the number of sunburns among their young children (β = −0.13, p = 0.03). Intervention effects were not noted among MC1R average-risk participants. Moderation analyses identified intervention effects within subgroups in average-risk and higher-risk participants. Precision prevention information conveying MC1R testing results can increase the practice of some sun protection behaviors among at-risk individuals with limited melanoma risk phenotypes and may provide a cross-generational tool to counteract increasing incidence of melanoma. [ABSTRACT FROM AUTHOR]

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.