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 Registry and categorized as having a clinical low, intermediate, or high risk of developing metastases. Deployment of the 21-RS is advocated in patients with an intermediate risk of developing metastases. The use and impact of the 21-RS test result on chemotherapy administration were assessed in relation to the clinical risk as well as patient and tumor characteristics; χ2 tests were used for analysis. RESULTS:Of all patients, 20,488 were considered as clinical low-, 4,309 as intermediate-, and 15,266 as high-risk patients. The 21-RS was deployed in 0.1% (n = 23), 3.2% (n = 137), and 0.6% (n = 90) of these categories, respectively. In the clinical intermediate-risk group, the 21-RS assigned 73.7, 13.1, and 13.1% of patients to the genomic low-, intermediate-, and high-risk category, respectively. Adherence to the 21-RS was 95.6% in these patients. CONCLUSION:In the Netherlands, the 21-RS test is applied both inside and outside the guideline-directed area. In case of discordance between the genomic and clinical risk, patients were treated in line with the result of the 21-RS.
journal_name
Public Health Genomicsjournal_title
Public health genomicsauthors
Schreuder K,Kuijer A,Bentum S,van Dalen T,Siesling Sdoi
10.1159/000495742subject
Has Abstractpub_date
2018-01-01 00:00:00pages
85-92issue
1-2eissn
1662-4246issn
1662-8063pii
000495742journal_volume
21pub_type
杂志文章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:Although thalassemia is a genetic hemoglobinopathy in Malaysia, there is limited data on thalassemia mutations in the indigenous groups. This study aims to identify the types of globin gene mutations in transfusion-dependent patients in Northern Sarawak. METHODS:Blood was collected from 32 patients from the...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000368342
更新日期:2015-01-01 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: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: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: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: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::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: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: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/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:BACKGROUND/AIMS:To describe the interests, decision making, and responses of consumers of direct-to-consumer personal genomic testing (DTC-PGT) services. METHODS:Prior to 2013 regulatory restrictions on DTC-PGT services, 1,648 consumers from 2 leading companies completed Web surveys before and after receiving test res...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000455006
更新日期:2017-01-01 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:BACKGROUND:Diabetes is one of the most common metabolic diseases in humans that cause disruption in glucose and fat metabolism. The determination of the ABO blood group system is hereditary and both diabetes and blood groups have a genetic basis. OBJECTIVES:The aim of this study was to investigate the odds of type 2 d...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000506294
更新日期:2020-01-01 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::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: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: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::The purpose of the study was to gain new insights into innovation systems by comparing state-of-the-art of existing approaches of innovation creation and innovation management in healthcare and ICT. It is unique, in that it compares countries in Africa with countries in Europe in order to identify similarities and dif...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000499853
更新日期:2018-01-01 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::This paper examines emerging technologies and recent research on population differences in pharmacogenomics and the perspectives of scientists, community advocates, policymakers, and social critics on the use of race as a proxy for genetic variation. The discussion focuses on how recent developments in genomic science...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000189630
更新日期:2009-01-01 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: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::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::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::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...
journal_title:Public health genomics
pub_type: 杂志文章
doi:10.1159/000279623
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
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journal_title:Public health genomics
pub_type: 多中心研究,新闻
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更新日期:2019-01-01 00:00:00