The Contribution of Health Technology Assessment, Health Needs Assessment, and Health Impact Assessment to the Assessment and Translation of Technologies in the Field of Public Health Genomics

Published on Jan 1, 2011in Public Health Genomics1.527
· DOI :10.1159/000318317
N. Rosenkötter1
Estimated H-index: 1
(UM: Maastricht University),
Hindrik Vondeling14
Estimated H-index: 14
+ 3 AuthorsAngela Brand17
Estimated H-index: 17
(Manipal University)
The European Union has named genomics as one of the promising research fields for the development of new health technologies. Major concerns with regard to these fields are, on the one hand, the rather slow and limited translation of new knowledge and, on the other hand, missing insights into the impact on public health and health care practice of those technologies that are actually introduced. This paper aims to give an overview of the major assessment instruments in public health [health technology assessment (HTA), health needs assessment (HNA) and health impact assessment (HIA)] which could contribute to the systematic translation and assessment of genomic health applications by focussing at population level and on public health policy making. It is shown to what extent HTA, HNA and HIA contribute to translational research by using the continuum of translational research (T1–T4) in genomic medicine as an analytic framework. The selected assessment methodologies predominantly cover 2 to 4 phases within the T1–T4 system. HTA delivers the most complete set of methodologies when assessing health applications. HNA can be used to prioritize areas where genomic health applications are needed or to identify infrastructural needs. HIA delivers information on the impact of technologies in a wider scope and promotes informed decision making. HTA, HNA and HIA provide a partly overlapping and partly unique set of methodologies and infrastructure for the translation and assessment of genomic health applications. They are broad in scope and go beyond the continuum of T1–T4 translational research regarding policy translation.
  • References (31)
  • Citations (25)
📖 Papers frequently viewed together
544 Citations
123 Citations
58 Citations
78% of Scinapse members use related papers. After signing in, all features are FREE.
#1Muin J. Khoury (CDC: Centers for Disease Control and Prevention)H-Index: 92
#2Wylie Burke (UW: University of Washington)H-Index: 62
Last. Elizabeth Thomson (NIH: National Institutes of Health)H-Index: 25
view all 3 authors...
44 CitationsSource
#1David Gurwitz (TAU: Tel Aviv University)H-Index: 40
#2Yael Bregman-Eschet (University of California, Berkeley)H-Index: 1
New companies offering personal whole-genome information services over the internet are dynamic and highly visible players in the personal genomics field. For fees currently ranging from US399 to US500 and a vial of saliva, individuals can now purchase online access to their individual genetic information regarding susceptibility to a range of chronic diseases and phenotypic traits based on a genome-wide SNP scan. Most of the companies offering such services are based in the United States, bu...
49 CitationsSource
Integrative genomics, personal-genome tests and personalized healthcare: the future is being built today
27 CitationsSource
#1H. Burton (Teesside University)H-Index: 1
#2M. Adams (Teesside University)H-Index: 1
Last. Peter Schröder-Bäck (UM: Maastricht University)H-Index: 8
view all 4 authors...
Public health genomics (PHG) relies on developing knowledge from a variety of natural and social science research disciplines to shape public policies, health policy, education and training, and direc
24 CitationsSource
#2J. Robitaille (CDC: Centers for Disease Control and Prevention)H-Index: 1
Last. Muin J. Khoury (CDC: Centers for Disease Control and Prevention)H-Index: 92
view all 8 authors...
Background: Recent years have seen increased concern about direct-to-consumer (DTC) genetic testing (i.e., the sale and use of genetic tests without involving a health care provider
46 CitationsSource
#1Valesca P. Retèl (NKI-AVL: Netherlands Cancer Institute)H-Index: 16
#2Jolien M. Bueno-de-Mesquita (NKI-AVL: Netherlands Cancer Institute)H-Index: 13
Last. Willem H. van Harten (NKI-AVL: Netherlands Cancer Institute)H-Index: 23
view all 12 authors...
Objectives: Constructive Technology Assessment (CTA) is a means to guide early implementation of new developments in society, and can be used as an evaluation tool for Coverage with Evidence Development (CED). We used CTA for the introduction of a new diagnostic test in the Netherlands, the 70-gene prognosis signature (MammaPrint®) for node-negative breast cancer patients. Methods: Studied aspects were (organizational) efficiency, patient-centeredness and diffusion scenarios. Pre-post structured...
22 CitationsSource
#1Mark I. McCarthy (University of Oxford)H-Index: 162
#2Gonçalo R. Abecasis (UM: University of Michigan)H-Index: 144
Last. Joel N. Hirschhorn (Broad Institute)H-Index: 109
view all 7 authors...
The past year has witnessed substantial advances in understanding the genetic basis of many common phenotypes of biomedical importance. These advances have been the result of systematic, well-powered, genome-wide surveys exploring the relationships between common sequence variation and disease predisposition. This approach has revealed over 50 disease-susceptibility loci and has provided insights into the allelic architecture of multifactorial traits. At the same time, much has been learned abou...
2,288 CitationsSource
#1Thomas A. Pearson (AMA: American Medical Association)H-Index: 77
#2Teri A. Manolio (AMA: American Medical Association)H-Index: 9
Genome-wide association (GWA) studies use high-throughput genotyping technologies to assay hundreds of thousands of single-nucleotide polymorphisms (SNPs) and relate them to clinical conditions and measurable traits. Since 2005, nearly 100 loci for as many as 40 common diseases and traits have been identified and replicated in GWA studies, many in genes not previously suspected of having a role in the disease under study, and some in genomic regions containing no known genes. GWA studies are an ...
730 CitationsSource
#1Steven H. Woolf (AMA: American Medical Association)H-Index: 61
1,207 CitationsSource
#1Philipp StorzH-Index: 4
#2Kai KolpatzikH-Index: 1
Last. Bertram Häussler (Technical University of Berlin)H-Index: 8
view all 5 authors...
Objectives: The aim of this study was to identify research and development on genetic testing to find out if research addresses important disease areas, how far it is from potential clinical use, and what consequences might arise for the prioritization of health technology assessment (HTA) activities. Also a horizon scanning methodology developed in Germany is demonstrated. Methods: A systematic search on genetic testing was conducted in an innovation database (ZIM database). Based on a daily mo...
10 CitationsSource
Cited By25
#1Fiona M Walter (University of Cambridge)H-Index: 34
#2Matthew Thompson (UW: University of Washington)H-Index: 32
Last. Jon Emery (University of Melbourne)H-Index: 42
view all 15 authors...
Background Novel diagnostic triage and testing strategies to support early detection of cancer could improve clinical outcomes. Most apparently promising diagnostic tests ultimately fail because of inadequate performance in real-world, low prevalence populations such as primary care or general community populations. They should therefore be systematically evaluated before implementation to determine whether they lead to earlier detection, are cost-effective, and improve patient safety and qualit...
Objectives: Multi-analyte assays with algorithmic analyses (MAAAs) use combinations of circulating and clinical markers including omics-based sources for diagnostic and/or prognostic purposes. Assessing MAAAs is challenging under existing health technology assessment (HTA) methods or practices. We undertook a scoping review to explore the HTA methods used for MAAAs to identify the criteria used for clinical research and reimbursement purposes. Methods: This review included only non-companion (st...
1 CitationsSource
#1Rainer Fehr (Bielefeld University)H-Index: 7
#2Kristina Alexanderson (KI: Karolinska Institutet)H-Index: 47
Last. Dineke Zeegers Paget (American Public Health Association)H-Index: 4
view all 13 authors...
Background: For better supporting the science-governance interface, the potential of health assessments appears underrated. Aims: To identify what various types of health assessment have in common; how they differ; which assessment(s) to apply for which purpose; and what needs and options there are for future joint development. Methods: This review is based on five types of health assessment: monitoring/surveillance/reporting, assessment of health impact, of health technology, of health systems ...
2 CitationsSource
#1Daniel G. Fort (NU: Northwestern University)H-Index: 2
#2Timothy M. Herr (NU: Northwestern University)H-Index: 5
Last. Justin Starren (NU: Northwestern University)H-Index: 34
view all 5 authors...
Objective Systematic review and analysis of definitions of translational research. Materials and methods The final corpus was comprised of 33 papers, each read by at least 2 reviewers. Definitions were mapped to a common set of research processes for presentation and analysis. Influence of papers and definitions was further evaluated using citation analysis and agglomerative clustering. Results All definitions were mapped to common research processes, revealing most common labels for each proces...
22 CitationsSource
#1Elizabeth Cohn (Adelphi University)H-Index: 9
#2Maryam HusamudeenH-Index: 1
Last. Janet K. Williams (UI: University of Iowa)H-Index: 29
view all 4 authors...
Achieving equitable minority representation in genomic biobanking is one of the most difficult challenges faced by researchers today. Capacity building—a framework for research that includes collaborations and on-going engagement—can be used to help researchers, clinicians and communities better understand the process, utility, and clinical application of genomic science. The purpose of this exploratory descriptive study was to examine factors that influence the decision to participate in genomi...
11 CitationsSource
#1Anil VaidyaH-Index: 1
#2Elio Borgonovi (Bocconi University)H-Index: 4
Last. Peter Walter (RWTH Aachen University)H-Index: 107
view all 8 authors...
Background Retinitis Pigmentosa (RP) is a hereditary genetic disease causing bilateral retinal degeneration. RP is a leading cause of blindness resulting in incurable visual impairment and drastic reduction in the Quality of life of the patients. Second Sight Medical Products Inc. developed Argus II, a retinal prosthesis system for treating RP. Argus II is the world’s first ever-commercial implant intended to restore some vision in the blind patients. The objective of this study was to assess th...
9 CitationsSource
#1Jonathan A. LalH-Index: 6
#2Servaas A. Morré (UM: Maastricht University)H-Index: 24
Last. Angela Brand (UM: Maastricht University)H-Index: 17
view all 3 authors...
Background: Recently, there has been a substantial increase in relevant genome-based technologies into market. Compared with its utilization in healthcare systems, we notice a huge gap. In order to address this bottleneck, we previously developed the Learning-Adapting-Leveling (LAL) model. Aim: In this article, we aim to demonstrate the overarching reach of the model for translation to market and implementation into healthcare systems moving towards personalized healthcare. Methods: We use quali...
2 CitationsSource
#1Pilar N. Ossorio (UW: University of Wisconsin-Madison)H-Index: 14
#2J. Paul Kelleher (UW: University of Wisconsin-Madison)H-Index: 4
: Perry Payne argues that the health care system should encourage provision of whole genome sequencing (WGS) for most people in the near future. Payne's essay contains two distinct claims. One claim is that near-universal access to WGS would be beneficial both to individuals and to populations who, without it, could be on the losing end of widening health disparities. The second claim is that the preventive services provisions of the Patient Protection and Affordable Care Act (ACA) should be inv...
#1Jonathan A. LalH-Index: 6
#2Anil Vaidya (UM: Maastricht University)H-Index: 4
Last. Angela BrandH-Index: 17
view all 5 authors...
We see a backlog in the effective and efficient integration of personalized medicine applications such as genome-based information and technologies into healthcare systems. This article aims to expand on the steps of a published innovative model, which addresses the bottleneck of real-time integration into healthcare. We present a deconstruction of the Learning-Adapting-Leveling model to simplify the steps. We found out that throughout the technology transfer pipeline, contacts, assessments and ...
6 CitationsSource