TY  - JOUR
AB  - Rapid advances in microarray and sequencing technologies are making genotyping and genome sequencing more affordable and readily available. There is an expectation that genomic sequencing technologies improve personalized diagnosis and personalized drug therapy. Concurrently, provision of direct-to-consumer genetic testing by commercial providers has enabled individuals’ direct access to their genomic data. The expanded availability of genomic data is perceived as influencing the relationship between the various parties involved including healthcare professionals, researchers, patients, individuals, families, industry, and government. This results in a need to revisit their roles and responsibilities. In a 1-day agenda-setting meeting organized by the COST Action IS1303 “Citizen’s Health through public-private Initiatives: Public health, Market and Ethical perspectives,” participants discussed the main challenges associated with the expanded availability of genomic information, with a specific focus on public-private partnerships, and provided an outline from which to discuss in detail the identified challenges. This paper summarizes the points raised at this meeting in five main parts and highlights the key cross-cutting themes. In light of the increasing availability of genomic information, it is expected that this paper will provide timely direction for future research and policy making in this area.
AU  - Borry, P.*
AU  - Bentzen, H.B.*
AU  - Budin-Ljøsne, I.*
AU  - Cornel, M.C.*
AU  - Howard, H.C.*
AU  - Feeney, O.*
AU  - Jackson, L.*
AU  - Mascalzoni, D.*
AU  - Mendes, Á.*
AU  - Peterlin, B.*
AU  - Riso, B.*
AU  - Shabani, M.*
AU  - Skirton, H.*
AU  - Sterckx, S.*
AU  - Vears, D.*
AU  - Wjst, M.
AU  - Felzmann, H.*
C1  - 52024
C2  - 43653
SP  - 103-116
TI  - The challenges of the expanded availability of genomic information: An agenda-setting paper.
JO  - J. Community Genet.
VL  - 9
IS  - 2
PY  - 2018
SN  - 1868-310X
ER  - 

TY  - JOUR
AB  - The definition of "genetic testing" is not a simple matter, and the term is often used with different meanings. The purpose of this work was the collection and analysis of European (and other) legislation and policy instruments regarding genetic testing, to scrutinise the definitions of genetic testing therewith contained the following: 60 legal documents were identified and examined-55 national and five international ones. Documents were analysed for the type (context) of testing and the material tested and compared by legal fields (privacy and confidentiality, data protection, biobanks, insurance and labour law, forensic medicine); some instruments are very complex and deal with various legal fields at the same time. There was no standard for the definitions used, and different approaches were identified (from wide general, to some very specific and technically based). Often, legal documents did not contain any definitions, and many did not distinguish between genetic testing and genetic information. Genetic testing was more often defined in non-binding legal documents than in binding ones. Definitions are core elements of legal documents, and their accuracy and harmonisation (particularly within a particular legal field) is critical, not to compromise their enforcement. We believe to have gathered now the evidence for adopting the much needed differentiation between (a) "clinical genetics testing", (b) "genetics laboratory-based genetic testing" and (c) "genetic information", as proposed before.
AU  - Varga, O.*
AU  - Soini, S.*
AU  - Kääriäinen, H.*
AU  - Cassiman, J.-J.*
AU  - Nippert, I.*
AU  - Rogowski, W.H.
AU  - Nys, H.*
AU  - Kristoffersson, U.*
AU  - Schmidtke, J.*
AU  - Sequeiros, J.*
C1  - 7244
C2  - 29589
SP  - 125-141
TI  - Definitions of genetic testing in European legal documents.
JO  - J. Community Genet.
VL  - 3
IS  - 2
PB  - Springer
PY  - 2012
SN  - 1868-310X
ER  - 

TY  - JOUR
AB  - The use of predictive genetic tests is expanding rapidly. Given limited health care budgets and few national coverage decisions specifically for genetic tests, evidence of benefits and harms is a key requirement in decision making; however, assessing the benefits and harms of genetic tests raises a number of challenging issues. Frequently, evidence of medical benefits and harms is limited due to practical and ethical limitations of conducting meaningful clinical trials. Also, clinical endpoints frequently do not capture the benefit appropriately because the main purpose of many genetic tests is personal utility of knowing the test results, and costs of the tests and counseling can be insufficient indicators of the total costs of care. This study provides an overview of points to consider for the assessment of benefits and harms from genetic tests in an ethically and economically reflected manner. We discuss whether genetic tests are sufficiently exceptional to warrant exceptional methods for assessment and appraisal.
AU  - Rogowski, W.H.
AU  - Grosse, S.D.*
AU  - John, J.
AU  - Kääriäinen, H.*
AU  - Kent, A.*
AU  - Kristofferson, U.*
AU  - Schmidtke, J.*
C1  - 4096
C2  - 28211
SP  - 185-194
TI  - Points to consider in assessing and appraising predictive genetic tests.
JO  - J. Community Genet.
VL  - 1
IS  - 4
PB  - Springer
PY  - 2010
SN  - 1868-310X
ER  -