National registries of rare diseases in Europe: an overview of the current situation and experiences.

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

authors： McBride CM,Abrams LR,Koehly LM

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

authors： 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.

更新日期：2015-01-01 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

authors： Sanderson SC,O'Neill SC,Bastian LA,Bepler G,McBride CM

更新日期：2010-01-01 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

authors： Gil-da-Silva-Lopes VL,Fontes MIB,Dos Santos AP,Appenzeller S,Fett-Conte AC,Francisquetti MCC,Monlleó IL

更新日期：2019-01-01 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

authors： Zlot AI,Valdez R,Han Y,Silvey K,Leman RF

更新日期：2010-01-01 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

authors： Fernandez CV,OʼConnell C,Ferguson M,Orr AC,Robitaille JM,Knoppers BM,McMaster CR

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

authors： Lemke AA,Wolf WA,Hebert-Beirne J,Smith ME

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

authors： Roberts JS,Gornick MC,Carere DA,Uhlmann WR,Ruffin MT,Green RC

更新日期：2017-01-01 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

authors： Burke W,Laberge AM,Press N

更新日期：2010-01-01 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

authors： Nikolaidis C,Ming C,Pedrazzani C,van der Horst T,Kaiser-Grolimund A,Ademi Z,Bührer-Landolt R,Bürki N,Caiata-Zufferey M,Champion V,Chappuis PO,Kohler C,Erlanger TE,Graffeo R,Hampel H,Heinimann K,Heinzelmann-Schwarz V,Kur

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

authors： Sabatello M,Zhang Y,Chen Y,Appelbaum PS

更新日期：2020-01-01 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

authors： Gorini A,Mazzocco K,Pravettoni G

更新日期：2015-01-01 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

authors： Potter BK,Avard D,Entwistle V,Kennedy C,Chakraborty P,McGuire M,Wilson BJ

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

authors： Vittozzi L,Gainotti S,Mollo E,Donati C,Taruscio D

更新日期：2013-01-01 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

authors： Joseph G,Kaplan C,Luce J,Lee R,Stewart S,Guerra C,Pasick R

更新日期：2012-01-01 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

authors： Taupitz J,Weigel J

更新日期：2012-01-01 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

authors： Moore EG,Roche M,Rini C,Corty EW,Girnary Z,O'Daniel JM,Lin FC,Corbie-Smith G,Evans JP,Henderson GE,Berg JS

更新日期：2017-01-01 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

authors： Sanderson SC,Diefenbach MA,Streicher SA,Jabs EW,Smirnoff M,Horowitz CR,Zinberg R,Clesca C,Richardson LD

更新日期：2013-01-01 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

authors： McDonald JA,Vadaparampil S,Bowen D,Magwood G,Obeid JS,Jefferson M,Drake R,Gebregziabher M,Hughes Halbert C

更新日期：2014-01-01 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

authors： Pang T

更新日期：2013-01-01 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

authors： Schee Genannt Halfmann S,Evangelatos N,Kweyu E,DeVilliers C,Steinhausen K,van der Merwe A,Brand A

更新日期：2018-01-01 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

authors： Chen LS,Kaphingst KA

更新日期：2011-01-01 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

authors： Cheung MK,Kwan HS

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

authors： Ricci MT,Sciallero S,Mammoliti S,Gismondi V,Franiuk M,Bruzzi P,Varesco L

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

authors： Lehoux M,D'Abramo CM,Archambault J

更新日期：2009-01-01 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

authors： Schreuder K,Kuijer A,Bentum S,van Dalen T,Siesling S

更新日期：2018-01-01 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

authors： Thiel DB,Platt J,Platt T,King SB,Fisher N,Shelton R,Kardia SL

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

authors： Chakrabarty S,Kabekkodu SP,Brand A,Satyamoorthy K

更新日期：2016-01-01 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

authors： Sanderson SC,Persky S,Michie S

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

authors： Karam SM,Barros AJ,Matijasevich A,Dos Santos IS,Anselmi L,Barros F,Leistner-Segal S,Félix TM,Riegel M,Maluf SW,Giugliani R,Black MM

更新日期：2016-01-01 00:00:00