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. There have been many biomarkers that have been published and claimed to be therapeutically useful, but few become part of the clinical decision-making process due to technical, validation and market access issues. To reduce this attrition rate, there is a significant need for policy makers and reimbursement agencies to define specific evidence requirements for the introduction of biomarkers into clinical practice. Once these requirements are more clearly defined, in an analogous manner to pharmaceuticals, researchers and diagnostic companies can better focus their biomarker research and development on meeting these specific requirements, which should lead to the more rapid introduction of new molecular oncology tests for patient benefit.
journal_name
Public Health Genomicsjournal_title
Public health genomicsauthors
Schneider D,Bianchini G,Horgan D,Michiels S,Witjes W,Hills R,Plun-Favreau J,Brand A,Lawler M,EAPM Working Group for Oncology Clinical Research.doi
10.1159/000441556subject
Has Abstractpub_date
2015-01-01 00:00:00pages
349-58issue
6eissn
1662-4246issn
1662-8063pii
000441556journal_volume
18pub_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: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 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::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 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: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: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: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: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: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/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: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: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: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: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::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/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: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: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::Approximately 20% of all cancers are associated with infectious agents. Among them, human papillomaviruses (HPVs) are very common and are now recognized as the etiological agent of cervical cancer, the second most common cancer in women worldwide, and they are increasingly linked with other forms of dysplasia. Carcino...
journal_title:Public health genomics
pub_type: 杂志文章,评审
doi:10.1159/000214918
更新日期:2009-01-01 00:00:00
abstract::Addressing the unmet health needs of persons living with congenital anomalies in low- and middle-income countries (LMIC) is a major challenge. Registries and databases are exemplary tools capable to link research data with health programs. Since 2009, Brazil's Craniofacial Project, a multicenter and voluntary research...
journal_title:Public health genomics
pub_type: 多中心研究,新闻
doi:10.1159/000501973
更新日期:2019-01-01 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: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: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: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: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: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: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: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