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 eventualities and future burden of the diseases to society. It is also recognized that current public health practices alone cannot bring about the desired outcome. When tackling public health-related issues, such problems must be recognized and state-of-the-art principles and innovations from genomic sciences, information technologies, and medical specialties must be encompassed and embraced. These will enhance strategies for preparedness and provide us with a better understanding of how to identify, manage, and control disease burdens. The ever expanding landscape of genomics research also includes experimental and computational approaches for effectively utilizing DNA sequence information. From these perspectives, the intricacies of Mendelian single gene disorders are the least challenging compared to intricacies of multi-dimensional host factors for infectious diseases or complex disorders such as cancer. The concepts of public health in India are on firm footing; however, integration of contemporary advances to implement public health principles into practice has neither been attempted nor impacted on disease burden or our preparedness to prevent eventualities. At the same time, translational genomics is gradually paving the way for personalized medicine. Principles of personalized medicine remain to be fully understood and practiced despite the pharmacogenomics-based future of drug development, and treatment has not been as exciting as the advances in genomics we are witnessing today. The relevance, importance, and translational impediments of these advances will be discussed.
journal_name
Public Health Genomicsjournal_title
Public health genomicsauthors
Chakrabarty S,Kabekkodu SP,Brand A,Satyamoorthy Kdoi
10.1159/000442518subject
Has Abstractpub_date
2016-01-01 00:00:00pages
61-8issue
2eissn
1662-4246issn
1662-8063pii
000442518journal_volume
19pub_type
杂志文章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: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::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::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::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: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: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: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: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::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::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: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: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: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::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: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: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::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: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: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: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::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: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: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::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: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: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: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: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