Public health applications of genetics including newborn screening and documentation of gene environment interactions

2022 ◽  
pp. 181-207
Author(s):  
Moyra Smith
Keyword(s):  
Public Health ◽  
Newborn Screening ◽  
Gene Environment ◽  
Health Applications

scholarly journals Reconciling Epidemiology’s Aspirations and Capabilities

2020 ◽  
Author(s):  
David A Savitz
Keyword(s):  
Public Health ◽  
Epidemiologic Studies ◽  
Public Health Importance ◽  
Public Health Action ◽  
Action Current ◽  
Current Trends ◽  
The Face ◽  
Health Action ◽  
New Challenges ◽  
Health Applications

Abstract Interpreting the results of epidemiologic studies calls for objectivity and rigorous scrutiny, acknowledging the limitations that temper the applicability of the findings to public health action. Current trends have posed new challenges to balancing goal of scientific objectivity and validity with public health applications. The ongoing tension between epidemiology’s aspirations and capability has several sources: the need to overpromise in research proposals, compromising methodologic rigor because of public health importance, defending findings in the face of hostile critics, and appealing to core constituencies who have specific expectations from the research.

PP58 The Alliance Between Health Technology Assessment And Public Health In National Screening Policies

2019 ◽  
Vol 35 (S1) ◽  
pp. 48-48
Author(s):  
Leonor Varela-Lema ◽  
Janet Puñal-Riobóo ◽  
Paula Cantero-Muñoz ◽  
Maria José Faraldo-Vallés
Keyword(s):  
Public Health ◽  
Decision Making ◽  
Newborn Screening ◽  
Health Technology Assessment ◽  
Technology Assessment ◽  
National Health System ◽  
Health Technology ◽  
Screening Tests ◽  
Special Focus ◽  
Screening Programs

IntroductionDecision making regarding national population-based prenatal and newborn screening policies is recognized to be highly challenging. This paper aims to describe the formalized collaboration that has been established between the Spanish National Public Health Screening Advisory Committee (PHSAC) and the Spanish Network of Health Technology Assessment (HTA) agencies to support the development of evidence- and consensus-based recommendations to support this process.MethodsIn-depth description and analysis of the strategic and methodological processes that have been implemented within the Spanish National Health System prenatal and newborn screening frameworks, with special emphasis on the role, actions, and responsibilities of HTA agencies.ResultsThe role of HTA agencies is threefold: (i) support the PHSAC by providing evidence on safety, effectiveness and cost/effectiveness of the screening tests/strategies, as well as contextualized information regarding costs, organizational, social, legal and ethical issues; (ii) collaborate with the PHSAC in the development of formal evidence- and consensus-based recommendations for defining population screening programs, when required; (iii) analyze real-world data that is generated by piloted programs. This paper will provide real-life examples of how these processes were implemented in practice, with a special focus on the development of the non-invasive prenatal testing (NIPT) policy. Recommendations for NIPT were developed by a multidisciplinary group based on the European network for Health Technology Assessment (EUnetHTA) rapid assessment report and the predictive models that were built using national statistics and other contextualized data.ConclusionsThe current work represents an innovative approach for prenatal and newborn screening policymaking, which are commonly difficult to evaluate due to the low quality of evidence and the confounding public health issues. The paper raises awareness regarding the importance of joint collaborations in areas where evidence is commonly insufficient for decision making.

scholarly journals Newborn Screening: Why is Asia Lagging Behind?

2019 ◽  
Vol 4 (1) ◽  
Keyword(s):  
Public Health ◽  
Newborn Screening ◽  
21St Century ◽  
Developed Countries ◽  
Publicly Funded ◽  
Public Health Programme ◽  
Preventive Public Health ◽  
The Developed Countries ◽  
Health Programme

Newborn screening is the most important preventive public health programme of the 21st century. It is implemented in majority of the developed countries. India and many countries in Asia are yet to start any publicly funded programme despite this having been established practice in many countries for over 50 years.

Describing the utility of the newborn screening Molecular Assessment Program (MAP) in US Public Health Laboratories

2014 ◽  
Vol 47 (15) ◽  
pp. 136
Author(s):  
Ruhiyyih A. Degeberg ◽  
Jelili Ojodu ◽  
Christopher R. Greene ◽  
Suzanne N. Cordovado ◽  
Carla D. Cuthbert
Keyword(s):  
Public Health ◽  
Newborn Screening ◽  
Assessment Program ◽  
Molecular Assessment

scholarly journals Complement System and Age-Related Macular Degeneration: Implications of Gene-Environment Interaction for Preventive and Personalized Medicine

2018 ◽  
Vol 2018 ◽  
pp. 1-13 ◽  
Author(s):  
Andrea Maugeri ◽  
Martina Barchitta ◽  
Maria Grazia Mazzone ◽  
Francesco Giuliano ◽  
Antonella Agodi
Keyword(s):  
Public Health ◽  
Personalized Medicine ◽  
Macular Degeneration ◽  
Complement System ◽  
Genetic Variants ◽  
Age Related Macular Degeneration ◽  
Environment Interaction ◽  
Gene Environment Interaction ◽  
Age Related ◽  
Gene Environment

Age-related macular degeneration (AMD) is the most common cause of visual loss in developed countries, with a significant economic and social burden on public health. Although genome-wide and gene-candidate studies have been enabled to identify genetic variants in the complement system associated with AMD pathogenesis, the effect of gene-environment interaction is still under debate. In this review we provide an overview of the role of complement system and its genetic variants in AMD, summarizing the consequences of the interaction between genetic and environmental risk factors on AMD onset, progression, and therapeutic response. Finally, we discuss the perspectives of current evidence in the field of genomics driven personalized medicine and public health.

Newborn screening for cystic fibrosis: A paradigm for public health genetics policy development

2000 ◽  
pp. 405-430
Author(s):  
Philip M. Farrell ◽  
Michael R. Kosorok ◽  
Michael J. Rock ◽  
Anita Laxova ◽  
Lan Zeng ◽  
...  
Keyword(s):  
Public Health ◽  
Cystic Fibrosis ◽  
Newborn Screening ◽  
Policy Development ◽  
Public Health Genetics

What should be the role of public health in newborn screening and prenatal diagnosis?

1999 ◽  
Vol 16 (2) ◽  
pp. 111-115 ◽  
Author(s):  
Ellen Wright Clayton
Keyword(s):  
Public Health ◽  
Prenatal Diagnosis ◽  
Newborn Screening

Newborn screening: A national public health programme in Brazil

2007 ◽  
Vol 30 (4) ◽  
pp. 615-615 ◽  
Author(s):  
T. Marini de Carvalho ◽  
H. Pimentel dos Santos ◽  
I. C. G. P. dos Santos ◽  
P. R. Vargas ◽  
J. Pedrosa
Keyword(s):  
Public Health ◽  
Newborn Screening ◽  
Public Health Programme ◽  
National Public Health ◽  
Health Programme
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