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1.  Attitudes towards personal genomics among older Swiss adults: An exploratory study 
To explore attitudes of Swiss older adults towards personal genomics (PG).
Using an anonymized voluntary paper-and-pencil survey, data were collected from 151 men and women aged 60–89 years attending the Seniorenuniversität Zurich, Switzerland (Seniors' University). Analyses were conducted using descriptive and inferential statistics.
One third of the respondents were aware of PG, and more than half indicated interest in undergoing PG testing. The primary motivation provided was respondents' interest in finding out about their own disease risk, followed by willingness to contribute to scientific research. Forty-four percent were not interested in undergoing testing because results might be worrisome, or due to concerns about the validity of the results. Only a minority of respondents mentioned privacy-related concerns. Further, 66% were interested in undergoing clinic-based PG motivated by the opportunity to contribute to scientific research (78%) and 75% of all study participants indicated strong preferences to donate genomic data to public research institutions.
This study indicates a relatively positive overall attitude towards personal genomic testing among older Swiss adults, a group not typically represented in surveys about personal genomics. Genomic data of older adults can be highly relevant to late life health and maintenance of quality of life. In addition they can be an invaluable source for better understanding of longevity, health and disease. Understanding the attitudes of this population towards genomic analyses, although important, remains under-examined.
PMCID: PMC4796807  PMID: 27047754
Personal genomics; Attitudes of older adults; Ethics; Personalized medicine; Privacy; Research participation
2.  Success stories in genomic medicine from resource-limited countries 
Human Genomics  2015;9(1):11.
In recent years, the translation of genomic discoveries into mainstream medical practice and public health has gained momentum, facilitated by the advent of new technologies. However, there are often major discrepancies in the pace of implementation of genomic medicine between developed and developing/resource-limited countries. The main reason does not only lie in the limitation of resources but also in the slow pace of adoption of the new findings and the poor understanding of the potential that this new discipline offers to rationalize medical diagnosis and treatment. Here, we present and critically discuss examples from the successful implementation of genomic medicine in resource-limited countries, focusing on pharmacogenomics, genome informatics, and public health genomics, emphasizing in the latter case genomic education, stakeholder analysis, and economics in pharmacogenomics. These examples can be considered as model cases and be readily replicated for the wide implementation of pharmacogenomics and genomic medicine in other resource-limited environments.
PMCID: PMC4485996  PMID: 26081768
Genomic medicine; Pharmacogenomics; Economic evaluation in pharmacogenomics; Genome informatics; Public health genomics; Genetics education; Africa; Latin America; Southeast Asia
3.  Genetic similarities between tobacco use disorder and related comorbidities: an exploratory study 
BMC Medical Genetics  2014;15:85.
Tobacco use disorder (TUD), defined as the use of tobacco to the detriment of a person’s health or social functioning, is associated with various disorders. We hypothesized that mutual variation in genes may partly explain this link. The aims of this study were to make a non-exhaustive inventory of the disorders using (partially) the same genetic pathways as TUD, and to describe the genetic similarities between TUD and the selected disorders.
We developed a 3 stage approach: (i) selection of genes influencing TUD using Gene2Mesh and Ingenuity Pathway Analysis (IPA), (ii) selection of disorders associated with the selected genes using IPA and (iii) genetic similarities between disorders associated with TUD using Jaccard distance and cluster analyses.
Fourteen disorders and thirty-two genes met our inclusion criteria. The Jaccard distance between pairs of disorders ranged from 0.00 (e.g. oesophageal cancer and malignant hypertension) to 0.45 (e.g. bladder cancer and addiction). A lower number in the Jaccard distance indicates a higher similarity between the two disorders. Two main clusters of genetically similar disorders were observed, one including coexisting disorders (e.g. addiction and alcoholism) and the other one with the side-effects of smoking (e.g. gastric cancer and malignant hypertension).
This exploratory study partly explains the potential genetic components linking TUD to other disorders. Two principle clusters of disorders were observed (i) coexisting disorders of TUD and (ii) side-effects of TUD disorders. A further deepening of this observation in a real life study should allow strengthening this hypothesis.
PMCID: PMC4119471  PMID: 25060307
Cardiovascular disorders; Comorbidity; Genetics; Network; Psychiatric disorders; Public Health Genomics; Tobacco use disorder; Tobacco smoking
4.  Communicating Genetics and Smoking Through Social Media: Are We There Yet? 
Social media is a recent source of health information that could disseminate new scientific research, such as the genetics of smoking.
The objectives were (1) to evaluate the availability of genetic information about smoking on different social media platforms (ie, YouTube, Facebook, and Twitter) and (2) to assess the type and the content of the information displayed on the social media as well as the profile of people publishing this information.
We screened posts on YouTube, Facebook, and Twitter with the terms “smoking” and “genetic” at two time points (September 18, 2012, and May 7, 2013). The first 100 posts were reviewed for each media for the time points. Google was searched during Time 2 as an indicator of available information on the Web and the other social media that discussed genetics and smoking. The source of information, the country of the publisher, characteristics of the posts, and content of the posts were extracted.
On YouTube, Facebook, and Twitter, 31, 0, and 84 posts, respectively, were included. Posts were mostly based on smoking-related diseases, referred to scientific publications, and were largely from the United States. From the Google search, most results were scientific databases. Six scientific publications referred to within the Google search were also retrieved on either YouTube or Twitter.
Despite the importance of public understanding of smoking and genetics, and the high use of social media, little information on this topic is actually present on social media. Therefore, there is a need to monitor the information that is there and to evaluate the population’s understanding of the information related to genetics and smoking that is displayed on social media.
PMCID: PMC3785980  PMID: 24018012
genetics; Internet; public health genomics; smoking; social media; Web 2.0
5.  Translational Potential into Health Care of Basic Genomic and Genetic Findings for Human Immunodeficiency Virus, Chlamydia trachomatis, and Human Papilloma Virus 
BioMed Research International  2013;2013:892106.
Individual variations in susceptibility to an infection as well as in the clinical course of the infection can be explained by pathogen related factors, environmental factors, and host genetic differences. In this paper we review the state-of-the-art basic host genomic and genetic findings' translational potential of human immunodeficiency virus (HIV), Chlamydia trachomatis (CT), and Human Papilloma Virus (HPV) into applications in public health, especially in diagnosis, treatment, and prevention of complications of these infectious diseases. There is a significant amount of knowledge about genetic variants having a positive or negative influence on the course and outcome of HIV infection. In the field of Chlamydia trachomatis, genomic advances hold the promise of a more accurate subfertility prediction test based on single nucleotide polymorphisms (SNPs). In HPV research, recent developments in early diagnosis of infection-induced cervical cancer are based on methylation tests. Indeed, triage based on methylation markers might be a step forward in a more effective stratification of women at risk for cervical cancer. Our review found an imbalance between the number of host genetic variants with a role in modulating the immune response and the number of practical genomic applications developed thanks to this knowledge.
PMCID: PMC3676999  PMID: 23781508
6.  Impact of Genetic Notification on Smoking Cessation: Systematic Review and Pooled-Analysis 
PLoS ONE  2012;7(7):e40230.
This study aimed to evaluate the impact of genetic notification of smoking-related disease risk on smoking cessation in the general population. Secondary objectives were to assess the impact of genetic notification on intention-to-quit smoking and on emotional outcomes as well as the understanding and the recall of this notification.
A systematic review of articles from inception to August 2011 without language restriction was realized using PubMed, Embase, Scopus, Web of Science, PsycINFO and Toxnet. Other publications were identified using hand search. The pooled-analysis included only randomized trials. Comparison groups were (i) high and low genetic risk versus control, and (ii) high versus low genetic risk. For the pooled-analysis random effect models were applied and sensitivity analyses were conducted.
Eight papers from seven different studies met the inclusion criteria of the review. High genetic risk notification was associated with short-term increased depression and anxiety. Four randomized studies were included in the pooled-analysis, which revealed a significant impact of genetic notification on smoking cessation in comparison to controls (clinical risk notification or no intervention) in short term follow-up less than 6 months (RR = 1.55, 95% CI 1.09–2.21).
In short term follow-up, genetic notification increased smoking cessation in comparison to control interventions. However, there is no evidence of long term effect (up to 12 month) on smoking cessation. Further research is needed to assess more in depth how genetic notification of smoking-related disease could contribute to smoking cessation.
PMCID: PMC3394798  PMID: 22808123
7.  Analysis of Existing International Policy Evidence in Public Health Genomics: Mapping Exercise 
In the last decades we have seen a constant growth in the fields of science related to the use of genome-based health information. However, there is a gap between basic science research and the Public Health everyday practice. For a successful introduction of genome-based technologies policy actions on the international level are needed. This work represents the initial stage of the PHGEN II (Public Health Genomics European Network II) project. In order to prepare a base for bridging genomics and Public Health, an inventory study of the existing legislative base dealing with controversies of genome-based knowledge was conducted. The work results in the mapping of the most and the least legislatively covered areas and some preliminary conclusions about the existing gaps.
Design and Methods
The collection of the evidence-based policies was done through the PHGEN II project. The mapping covered the meta-level (international, European general guidelines). The expert opinion of the partners of the project was required to reflect on and grade the collected evidence.
An analysis of the evidence was made by the area of coverage: using the list of important policy areas for successful introduction of genome-based technologies into Public Health and the Public Health Genomics Wheel (originally Public Health Wheel developed by Institute of Medicine).
Severe inequalities in coverage of important issues of Public Health Genomics were found. The most attention was paid to clinical utility and clinical validity of the screening and the protection of human subjects. Important areas such as trade agreements, Public Health Genomics literacy, insurance issues, behaviour modification in response to genomics results etc. were paid less attention to.
For the successful adoption of new technologies on the Public Health level the focus should be not only on the translation to clinical practice, but the translation from bench to Public Health policy and back. Coherent and consistent coverage of all aspects of the translation of genome based information and technologies is of outmost importance.
PMCID: PMC4140310  PMID: 25170444
public health genomics; genomics; translational research; public health; policy; legislation
8.  Public health and valorization of genome-based technologies: a new model 
The success rate of timely translation of genome-based technologies to commercially feasible products/services with applicability in health care systems is significantly low. We identified both industry and scientists neglect health policy aspects when commercializing their technology, more specifically, Public Health Assessment Tools (PHAT) and early on involvement of decision makers through which market authorization and reimbursements are dependent. While Technology Transfer (TT) aims to facilitate translation of ideas into products, Health Technology Assessment, one component of PHAT, for example, facilitates translation of products/processes into healthcare services and eventually comes up with recommendations for decision makers. We aim to propose a new model of valorization to optimize integration of genome-based technologies into the healthcare system.
The method used to develop our model is an adapted version of the Fish Trap Model and the Basic Design Cycle.
We found although different, similarities exist between TT and PHAT. Realizing the potential of being mutually beneficial justified our proposal of their relative parallel initiation. We observed that the Public Health Genomics Wheel should be included in this relative parallel activity to ensure all societal/policy aspects are dealt with preemptively by both stakeholders. On further analysis, we found out this whole process is dependent on the Value of Information. As a result, we present our LAL (Learning Adapting Leveling) model which proposes, based on market demand; TT and PHAT by consultation/bi-lateral communication should advocate for relevant technologies. This can be achieved by public-private partnerships (PPPs). These widely defined PPPs create the innovation network which is a developing, consultative/collaborative-networking platform between TT and PHAT. This network has iterations and requires learning, assimilating and using knowledge developed and is called absorption capacity. We hypothesize that the higher absorption capacity, higher success possibility. Our model however does not address the phasing out of technology although we believe the same model can be used to simultaneously phase out a technology.
This model proposes to facilitate optimization/decrease the timeframe of integration in healthcare. It also helps industry and researchers to come to a strategic decision at an early stage, about technology being developed thus, saving on resources, hence minimizing failures.
PMCID: PMC3296632  PMID: 22142533
Technology Transfer; Health Technology Assessment; Public Health Genomics; Health Needs Assessment; Health Impact Assessment; Valorization; Translational Research; Healthcare; Health Policy; Genomics
9.  Public health in the genomic era: will Public Health Genomics contribute to major changes in the prevention of common diseases? 
The completion of the Human Genome Project triggered a whole new field of genomic research which is likely to lead to new opportunities for the promotion of population health. As a result, the distinction between genetic and environmental diseases has faded. Presently, genomics and knowledge deriving from systems biology, epigenomics, integrative genomics or genome-environmental interactions give a better insight on the pathophysiology of common diseases. However, it is barely used in the prevention and management of diseases. Together with the boost in the amount of genetic association studies, this demands for appropriate public health actions. The field of Public Health Genomics analyses how genome-based knowledge and technologies can responsibly and effectively be integrated into health services and public policy for the benefit of population health. Environmental exposures interact with the genome to produce health information which may help explain inter-individual differences in health, or disease risk. However today, prospects for concrete applications remain distant. In addition, this information has not been translated into health practice yet. Therefore, evidence-based recommendations are few. The lack of population-based research hampers the evaluation of the impact of genomic applications. Public Health Genomics also evaluates the benefits and risks on a larger scale, including normative, legal, economic and social issues. These new developments are likely to affect all domains of public health and require rethinking the role of genomics in every condition of public health interest. This article aims at providing an introduction to the field of and the ideas behind Public Health Genomics.
PMCID: PMC3436652  PMID: 22958637
Epidemiology; Genomics; Epigenomics; Prevention; Public Health; Public Health Genomics; Translational Research; Policymaking; Personalised Healthcare

Results 1-10 (10)