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 conducted a knowledge synthesis study to explore both guidance and current practice regarding the consideration of ELSIs in HTA for prenatal/preconceptional and newborn screening. As the concluding activity for this project, we held a Canadian workshop to discuss the issues with a diverse group of stakeholders. Based on key workshop themes integrated with our study results, we suggest that population-based genetic screening programs may present particular types of ELSIs and that a public health ethics perspective is potentially highly relevant when considering them. We also suggest that approaches to addressing ELSIs in HTA for prenatal/preconceptional and newborn screening may need to be flexible enough to respond to diversity in HTA organizations, cultural values, stakeholder communities, and contextual factors. Finally, we highlight a need for transparency in the way that HTA producers move from evidence to conclusions and the ways in which screening policy decisions are made.
journal_name
Public Health Genomicsjournal_title
Public health genomicsauthors
Potter BK,Avard D,Entwistle V,Kennedy C,Chakraborty P,McGuire M,Wilson BJdoi
10.1159/000153430subject
Has Abstractpub_date
2009-01-01 00:00:00pages
4-10issue
1eissn
1662-4246issn
1662-8063pii
000153430journal_volume
12pub_type
杂志文章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:The nationwide use of the 21-gene recurrence score (21-RS) and implications regarding chemotherapy administration in relation to clinical risk in early breast cancer patients are investigated. METHODS:Breast cancer patients surgically treated between 2014 and 2016 were selected from the Netherlands Cancer R...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000495742
更新日期:2018-01-01 00:00:00
abstract:BACKGROUND/AIMS:Despite the investments being made to develop biobanks, African Americans are under-represented in genomic studies. We identified factors having significant independent associations with intentions to donate personal health information and blood and/or tissue samples to a biobank in a national random sa...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000360472
更新日期:2014-01-01 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:OBJECTIVE:We explore the stability of parental attitudes to the ethical issues raised by the return of genomic research results. METHODS:A 19-item questionnaire was mailed to participants in a large genome research consortium 18 months following a baseline survey. We describe the stability of parental attitudes to (a)...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000439244
更新日期:2015-01-01 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::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::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::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::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: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: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:Stakeholders who are committed to bridge the gap in genetics services need to be aware of current initiatives in sub-Saharan Africa. METHODS:We reviewed selected experiences from African geneticists that led to specific recommendations. RESULTS:The initiation of prenatal diagnosis of sickle cell anaemia fo...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000294171
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:OBJECTIVES:The necessity for biobanks to share their resources with third parties poses potential risks to public trust and the intention to participate in genetic research. We explore the effects of data sharing and the type of third-party access (public vs. private) on public trust and, in turn, the intention to part...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000375441
更新日期:2015-01-01 00:00:00
abstract::Due to the lack of other treatment options, patient candidates for participation in phase I clinical trials are considered the most vulnerable, and many ethical concerns have emerged regarding the informed consent process used in the experimental design of such trials. Starting with these considerations, this nonsyste...
journal_title:Public health genomics
pub_type: 杂志文章,评审
doi:10.1159/000441559
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: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: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: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::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: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:AIMS:The objective was to evaluate children's opinions about their participation in a large research project. METHODS:Polish children between 6 and 14 years of age completed a questionnaire about their participation in the Polish Gabriel study (which aims to identify genetic and environmental causes of asthma). In tot...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000294173
更新日期:2011-01-01 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::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:BACKGROUND:Intellectual disability (ID), characterized by impairments in intellectual function and adaptive behavior, affects 1-3% of the population. Many studies investigated its etiology, but few are cohort studies in middle-income countries. AIMS:To estimate prevalence, etiology, and factors related to ID among chi...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000448912
更新日期:2016-01-01 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
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::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: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