Abstract:
:The clinical utility of genetic tests is determined by the outcomes following test use. Like other measures of value, it is often contested. Stakeholders may have different views about benefits and risks and about the importance of social versus health outcomes. They also commonly disagree about the evidence needed to determine whether a test is effective in achieving a specific outcome. Questions may be presented as factual disagreements, when they are actually debates about what information matters or how facts should be interpreted and used in clinical decision-making. Defining the different issues at stake is therefore an important element of policy-making. Key issues include evidence standards for test use, and in particular, the circumstances under which prospective controlled data should be required, as well as evidence on feasibility, cost and equitable delivery of testing; the goals of population-based screening programs, and in particular, the role of social outcomes in evaluating test value; and the appropriate uses and funding of tests that inform non-medical actions. Addressing each of these issues requires attention to stakeholder values and methods for effective deliberation that incorporate consumer as well as health professional perspectives.
journal_name
Public Health Genomicsjournal_title
Public health genomicsauthors
Burke W,Laberge AM,Press Ndoi
10.1159/000279623subject
Has Abstractpub_date
2010-01-01 00:00:00pages
215-23issue
4eissn
1662-4246issn
1662-8063pii
000279623journal_volume
13pub_type
杂志文章abstract::Prenatal/preconceptional and newborn screening programs have been a focus of recent policy debates that have included attention to ethical, legal, and social issues (ELSIs). In parallel, there has been an ongoing discussion about whether and how ELSIs may be addressed in health technology assessment (HTA). We conducte...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000153430
更新日期:2009-01-01 00:00:00
abstract:BACKGROUND:Michigan's BioTrust for Health, a public health research biobank comprised of residual dried bloodspot (DBS) cards from newborn screening contains over 4 million samples collected without written consent. Participant-centric initiatives are IT tools that hold great promise to address the consent challenges i...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000366128
更新日期:2015-01-01 00:00:00
abstract:BACKGROUND:Family history of cardiovascular disease (CVD) is an independent risk factor for CVD. Therefore, efforts to prevent CVD among asymptomatic persons with a family history are warranted. Little is known about preventive recommendations clinicians offer their patients with a family history of CVD, and adherence ...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000293991
更新日期:2010-01-01 00:00:00
abstract:BACKGROUND/AIMS:Nearly 15% of all ovarian cancer patients carry a germline BRCA mutation. A pilot project was started at IRCCS AOU San Martino--IST, Genoa, to assess the feasibility and consequences of offering genetic counselling to all ovarian cancer patients during routine oncology appointments. We present early res...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000431352
更新日期:2015-01-01 00:00:00
abstract:INTRODUCTION:Biospecimens are tools that have the potential to improve early identification and treatment for autism spectrum disorders (ASD) and bipolar disorders (BPD). Unfortunately, most biobanks lack racial/ethnic diversity. One challenge to including a diverse sample of youth is recruiting and engaging families. ...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000509120
更新日期:2020-01-01 00:00:00
abstract:BACKGROUND:Disease outbreak investigation is a key aspect of public health. Whole-genome sequencing of bacterial pathogen based on new generation high-throughput sequencing technologies has facilitated outbreak investigations recently. Whilst the approach has become more affordable and accessible to research and clinic...
journal_title:Public health genomics
pub_type: 杂志文章,评审
doi:10.1159/000342770
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND:The current situation of rare disease (RD) registries is rather heterogeneous, and new ways to support the registration of RD patients are being sought in the European Union (EU) and the US. The project 'Building Consensus and Synergies for the EU Registration of RD Patients', funded by the EU, aimed to defi...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000355935
更新日期:2013-01-01 00:00:00
abstract::The European Union (EU) policy for healthcare requires the establishment of a system of European Reference Networks, union-wide information databases, and registries for rare diseases (RDs) based on shared criteria. In pursuing its goals, the 'Building Consensus and Synergies for the EU Registration of RD Patients in ...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000365897
更新日期:2015-01-01 00:00:00
abstract:BACKGROUND:Nutrigenetic tests are often considered to be less serious compared to other health-related genetic tests, although they share similar ethical concerns. Nutrigenetic tests are mainly available through direct-to-consumer genetic testing (DTC GT) and increasing in popularity. OBJECTIVE:To analyze the contents...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000503977
更新日期:2019-01-01 00:00:00
abstract:BACKGROUND:Identification of low-income women with the rare but serious risk of hereditary cancer and their referral to appropriate services presents an important public health challenge. We report the results of formative research to reach thousands of women for efficient identification of those at high risk and exped...
journal_title:Public health genomics
pub_type: 杂志文章,随机对照试验
doi:10.1159/000336419
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND:Preconception carrier screening for hemoglobinopathies (HbPs) is debated in the Netherlands. OBJECTIVES:Intentions to participate in preconception carrier screening for HbPs as well as informed reproductive options were assessed in 109 Turkish female immigrants. METHOD:Participants completed a structured q...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000314643
更新日期:2010-01-01 00:00:00
abstract:BACKGROUND:Cancer risk assessment should stratify screening and enable preventive health interventions based on individuals' risk of developing cancer. Studies are underway to develop epigenetic tests, including trials investigating women's risk of female-specific cancers. OBJECTIVE:Given potential consequences for qu...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000501975
更新日期:2019-01-01 00:00:00
abstract:OBJECTIVE:To assess the cost effectiveness of newborn screening for congenital adrenal hyperplasia (CAH) in the U.S. newborn population. METHODS:We constructed a decision model to estimate the incremental cost-effectiveness ratio (ICER) of CAH screening compared to a strategy of no screening. Two types of cost effecti...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000156115
更新日期:2009-01-01 00:00:00
abstract::It is now recognized worldwide that anticipation and prevention of diseases have significant advantages for the health and healthy ageing of the population. Early recognition of the disease in a vulnerable population such as in children aged <5 years and adults aged >60 years enhances our preparedness for any eventual...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000442518
更新日期:2016-01-01 00:00:00
abstract: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 wor...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000496495
更新日期:2018-01-01 00:00:00
abstract::While personalised cancer medicine holds great promise, targeting therapies to the biological characteristics of patients is limited by the number of validated biomarkers currently available. The implementation of biomarkers has undergone many challenges with few biomarkers reaching cancer patients in the clinic. Ther...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000441556
更新日期:2015-01-01 00:00:00
abstract:BACKGROUND:New genetic associations with obesity are rapidly being discovered. People's causal beliefs about obesity may influence their obesity-related behaviors. Little is known about genetic compared to lifestyle causal beliefs regarding obesity, and obesity-related diseases, among minority populations. This study e...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000343793
更新日期:2013-01-01 00:00:00
abstract:BACKGROUND:Post kala-azar dermal leishmaniasis (PKDL) is a cutaneous form of disease that develops at variable times after individuals have received treatment for clinical visceral leishmaniasis (VL). The study aimed to investigate the possible role of interleukin 10 (IL-10) and development of PKDL. METHODS:77 familie...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000272457
更新日期:2010-01-01 00:00:00
abstract:PURPOSE:Returning genetic results to research participants is gaining momentum in the USA. It is believed to be an important step in exploring the impact of efforts to translate findings from research to bedside and public health benefits. Some also hope that this practice will incentivize research participation, espec...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000506599
更新日期:2020-01-01 00:00:00
abstract:AIMS:The Public Health Genomics European Network (PHGEN) aimed, among other objectives, to identify the geographical variability and legal barriers of genomic medicine and public health genomics (PHG) at an international market, where the lack of policy coherence may limit its development in Europe. PHGEN supported the...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000335550
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND:Much of the research examining psychosocial aspects of genetic testing has used hypothetical scenarios, based on the largely untested assumption that hypothetical genetic testing intentions are good proxies for behavior. We tested whether hypothetical interest predicts uptake of genetic testing and whether f...
journal_title:Public health genomics
pub_type: 杂志文章,多中心研究
doi:10.1159/000226595
更新日期:2010-01-01 00:00:00
abstract::Public health genomics (PHG) is an area of public health that is vital if we are to ensure that scientific advances in genomics are effectively and responsibly translated into public and health policies. Education and training in PHG for relevant professionals in public health and wider health and public policy was th...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000200019
更新日期:2009-01-01 00:00:00
abstract::In order to follow population-based approaches for certain causes and risks of illnesses, more and more biobanks have been set up during the last years. Here, samples and personal data of the donors are collected and saved, whereby concrete research aims, at the time of storage of the bio-probes and the related data, ...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000336604
更新日期:2012-01-01 00:00:00
abstract::Research assessing attitudes toward consent processes for high-throughput genomic-wide technologies and widespread sharing of data is limited. In order to develop a better understanding of stakeholder views toward these issues, this cross-sectional study assessed public and biorepository participant attitudes toward r...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000276767
更新日期:2010-01-01 00:00:00
abstract::Genome-wide association studies and biobanks are at the forefront of genomics research and possess unprecedented potential to improve public health. However, for public health genomics to ultimately fulfill its potential, technological and scientific advances alone are insufficient. Scientists, ethicists, policy maker...
journal_title:Public health genomics
pub_type: 杂志文章,评审
doi:10.1159/000341500
更新日期:2013-01-01 00:00:00
abstract:BACKGROUND:The past 20 years have witnessed successive and exponential advances in genomic discovery and technology, with a broad scientific imperative pushing for continual advancements. The most consistent critique of these advances is that they have vastly outpaced translation of new knowledge into improvements in p...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000435832
更新日期:2015-01-01 00:00:00
abstract:BACKGROUND:Common obesity-associated genetic variants may exert their effects through increasing eating or decreasing metabolism. Such differences might influence individual responses to obesity genetic test results. METHODS:This was an experimental analogue study: 191 participants were asked to imagine they had recei...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000217794
更新日期:2010-01-01 00:00:00
abstract:BACKGROUND:Individuals with a family history of lung cancer have a two- to threefold increased risk for developing this disease. Family history information may be useful in lung cancer prevention and control approaches, but research is needed regarding how individuals interpret this information. This study examined ass...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000294151
更新日期:2011-01-01 00:00:00
abstract:BACKGROUND/AIMS:Recent genomic medicine initiatives underscore the importance of including diverse participants in research. Considerable literature has identified barriers to and facilitators of increasing diversity, yet disparities in recruiting and retaining adequate numbers of participants from diverse groups conti...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000490519
更新日期:2017-01-01 00:00:00
abstract:BACKGROUND:Genetic testing has been gradually permeating the practice of medicine. Health-care providers may be confronted with new genetic approaches that require genetically informed decisions which will be influenced by patients' knowledge of genetics and their attitudes toward genetic testing. This study assesses t...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000446511
更新日期:2016-01-01 00:00:00