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Factors affecting intent to use consumer genetic tests : a revised technology acceptance modelJohnson, Richard 17 April 2011 (has links)
Genetic testing offers disease diagnosis and other information based on genetic material provided by an individual. Direct to consumer genetic tests bypass clinicianadministered tests in favour of direct sales and usage by consumers. The relative newness of consumer genetic testing to the South African market provides an opportunity for understanding the factors that would drive adoption of these products. An established technology acceptance model was enriched with factors important to clinical genetic testing and individual innovativeness. The model was tested through an online questionnaire with a nonprobability sample of 109 individuals. Factors including performance expectancy, social influence and discrimination concerns, were found to exhibit significant influence on consumers’ behavioural intention to use consumer genetic tests. These findings provide a theoretical framework of individuals’ attributes of importance for marketing and sales of consumer genetic tests. Copyright / Dissertation (MBA)--University of Pretoria, 2010. / Gordon Institute of Business Science (GIBS) / unrestricted
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Μελέτη της απήχησης και της κατανόησης του ρόλου των υπηρεσίων γενετικής και φαρμακογενετικής ανάλυσης στην ελληνική αγοράYuan, Mai 29 August 2011 (has links)
Οι διαφορετικοί τρόποι ανταπόκρισης στα φάρμακα που παρατηρούνται από άτομο σε άτομο, οι οποίοι βασίζονται στις γενετικές διαφορές μεταξύ διαφόρων πληθυσμών παρουσιάζουν ένα σημαντικό κλινικό πρόβλημα όχι μόνο στην Ελλάδα αλλά και σε άλλες χώρες. Επάνω στο θέμα αυτό έχει αναπτυχθεί ένας καινούργιος κλάδος επιστήμης και υπηρεσιών στην ελληνική αγορά, οι υπηρεσίες γενετικής και φαρμακογενετικής ανάλυσης, οι οποίες μελετούν τις γενετικές διαφορές στα ένζυμα που επηρεάζουν το μεταβολισμό και τη δράση των φαρμάκων στους ασθενείς.
Στόχος της εργασίας ήταν η κατανόηση του ρόλου των υπηρεσιών γενετικής και φαρμακογενετικής ανάλυσης στην ελληνική αγορά πραγματοποιώντας μία έρευνα απόψεων ασθενών και του κοινού για την υπηρεσίες γενετικής και φαρμακογενετικής ανάλυσης σε δύο μεγάλες πόλεις (Αθήνα, Πάτρα) και σε μία κωμόπολη (Αίγιο).
Για τις ανάγκες της παρούσας εργασίας, ρωτήθηκαν συνολικά 688 άτομα τα οποία χωρίστηκαν σε 3 ηλικιακές ομάδες (<35 ετών, 35-60 ετών και >60 ετών). Το ερωτηματολόγιο αποτελείτο από 9 συνολικά ερωτήσεις με σκοπό να διερευνηθεί (α) το κατά πόσο το ευρύ κοινό είναι ενημερωμένο για το σκοπό των γενετικών και φαρμακογενετικών αναλύσεων, (β) το κατά πόσο το ευρύ κοινό είναι διατεθειμένο να υποβληθεί σε γενετικές/φαρμακογενετικές αναλύσεις, (γ) αν η επιλογή των ατόμων επηρεάζεται από την κάλυψη της ασφάλειας τους, (δ) αν πιστεύουν ότι οι αναλύσεις πρέπει να διενεργούνται κατευθείαν από τους ενδιαφερόμενους ή κατόπιν υπόδειξης από ειδικό.
Τα ευρήματα έδειξαν ότι οι περισσότεροι ερωτηθέντες ήταν ενημερωμένοι για τις γενετικές αναλύσεις γνωρίζοντας ότι οι γενετικές αναλύσεις γίνονται με πολύ απλούς τρόπους. Παρατηρήθηκε ότι το μεγαλύτερο ποσοστό των ατόμων ήταν διατεθειμένοι να προβούν σε μια γενετική εξέταση όταν γνώριζαν ότι οι γενετικές αναλύσεις μπορούν να παρέχουν πληροφορίες για την πιθανότητα εμφάνισης μιας κληρονομικής νόσου. Επιπλέον, οι άνθρωποι που ήταν διατεθειμένοι να προβούν στις γενετικές αναλύσεις ήταν περισσότεροι από αυτούς που ήταν διατεθειμένοι να προβούν στις φαρμακογενετικές αναλύσεις. Ωστόσο, οι περισσότεροι πίστευαν ότι οι γενετικές/φαρμακογενετικές αναλύσεις πρέπει να γίνονται από τους ενδιαφερόμενους κατόπιν υπόδειξης από κάποιον ειδικό. Πιο συγκεκριμένα, η μεγάλη πλειοψηφία των ερωτηθέντων πίστευαν ότι οι γενετικές/φαρμακογενετικές αναλύσεις πρέπει να γίνονται κατόπιν υπόδειξης από κάποιον γιατρό και σημαντικά λιγότεροι κατόπιν υπόδειξης από κάποιον φαρμακοποιό.
Στις μικρές πόλεις οι πληροφορίες που αφορούν τις γενετικές/φαρμακογενετικές αναλύσεις δεν είναι τόσο διαδεδομένες συγκριτικά με τις μεγάλες πόλεις. Οι περισσότεροι ασθενείς δεν είχαν την ευκαιρία να υποβληθούν σε κάποια γενετική/φαρμακογενετική εξέταση, εφόσον κανείς ποτέ δεν τους παρότρυνε σχετικά. Όμως, αν οι ειδικοί (ειδικά οι γιατροί) μπορούν να παροτρύνουν περισσότερο τους ασθενείς ώστε να υποβληθούν σε τέτοιες εξετάσεις, οι γιατροί θα μπορέσουν να χρησιμοποιούν τα αποτελέσματα των εξετάσεων προκειμένου να καθορίσουν την καλύτερη θεραπευτική επιλογή για τους ασθενείς. Επιπλέον, οι επιλογές των ασθενών επηρεάζονται πολύ από το αν οι αναλύσεις μπορεί να καλύπτονται από ασφαλιστικούς φορείς. Όταν οι δαπάνες των υπηρεσιών καλύπτονται από το δημόσιο ταμείο υγείας ή κάποιους ασφαλιστικούς φορείς, οι ασθενείς θα είναι πιο διατεθειμένοι να υποβληθούν στις εξετάσεις. / Individual difference in drug response is common among patients and it appears to be due to the interactions of genetic factors. Therefore, knowledge about individual genetic variability in drug response is clinically and economically important. Genetic and pharmacogenetic testing which have been developed recently in Greece, study people’s genetic difference in order to predict their response to medicines.
Objectives: The purpose of this thesis is to explore patients’ views about genetic and pharmacogenetic testing services and their future development in the Greek market.
Methods: 688 questionnaires were distributed to people, originating from 2 major cities (Athens, Patras) and a smaller city (Egio), who were divided into three age groups (<35 years, 35-60 years and >60 years) in Greece. The questionnaires consisted of 9 questions which were designed to explore people’s opinion on (a) how well informed the general public is about the objectives of genetic and pharmacogenetic analysis (b) whether the general public is willing to undertake these tests (c) if their choices will be influenced by reimbursement of testing costs, and (d) if they believe that the tests should be carried out with or without specialists’ (doctor or pharmacist) advice.
Results: The views of 688 individuals showed that most responders were aware of genetic tests. They also knew that genetic tests could be easily carried. In addition, the largest percentage of people was willing to order a genetic test when they knew that genetic analysis can inform them on the possibility to develop a hereditary disease. In addition, the number of people who were willing to take genetic tests was more than those who were willing to take pharmacogenetic tests. However, most people believed that genetic / pharmacogenetic tests should only be carried out following the advice of a specialist. In particular, most responders believed that genetic / pharmacogenetic tests should be carried out following the advice of a doctor rather than the advice of a pharmacist. In smaller towns, information about genetic/pharmacogenetic tests is not so much widespread compared to large cities.
Conclusion: Most patients have not had the opportunity to take a genetic / pharmacogenetic test as no one has ever suggested them to do so. But if the experts (especially the doctors) could give specific advices to their patients on such tests, the test results could used to determine the best treatment for the patients. Therefore the consequences of side effects or lack of effectiveness of certain drugs could be avoided and drug therapy could be improved. Apart from that, the choices of patients are mostly influenced by their insurance. If the cost of the tests could be reimbursed by some health insurances, patients would be more willing to take the tests.
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Presymptomatic testing for familial cancer syndromes in young adults : considerations, decision making and impactGodino, Lea January 2017 (has links)
Background: Presymptomatic genetic testing should always involve a considered choice. Young adults are at a key life stage as they may be developing a career, forming partnerships and potentially becoming parents. Presymptomatic testing may therefore affect the future lives of consultands significantly when testing is undertaken in early adulthood. Aim: To explore presymptomatic testing for hereditary cancer in consultands aged 18-30 years with particular reference to psychosocial impact, the decision-making process and the consequent counselling needs. Methods: A mixed-methods sequential exploratory design was used, comprising a systematic review, a qualitative study and a quantitative study. Results of all phases were used to build a theoretical model regarding the process of presymptomatic testing in young adults. Findings: The systematic review indicated that many participants grew-up with little or no information concerning their genetic risk. The experience of genetic counselling was either reported as an opportunity for discussing problems or associated with feelings of disempowerment. Parents appeared to have exerted pressure on their children during the decision-making process. However, as a result of the qualitative study, the influence of other people and the decision-making process prior to counselling were identified as key factors. Further results from the quantitative phase underlined that parents felt they had control over the decisions their children made, while the majority of the young adults reported the request for the genetic test as their own decision. A new theoretical model of decision making and impact on young adults was built to synthesise the overarching experience of participants in this research project. Conclusion: Counselling approaches to this population may require modification both for young adults and their parents. Young adults may benefit from a multi-step approach to presymptomatic testing. Parents need to be more informed that genetic counselling is a forum where information can be obtained and young adults can talk about the testing decision, regardless of whether they want to be tested or not. The traditional ‘wait until they come to us’ approach by health services may be failing to meet the educational and emotional needs of this population.
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Media Coverage of Direct-to-Consumer Genetic TestingParrott, Ashley 05 August 2010 (has links)
No description available.
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Consumer Preferences for the Reporting of Genetic Variants of Uncertain SignificanceSmith, Nichole 24 September 2012 (has links)
No description available.
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Psychosociální aspekty Huntingtonovy nemoci / Psychosocial Aspects of Huntington's DiseaseUhrová, Tereza January 2011 (has links)
Huntington's disease (HD) is an autosomal dominant inherited neuro-psychiatric disease with usual onset in the middle age. The mutation, located on the short shoulder of chromosome 4, is an expansion of a nucleotide triplet, containing cytosine, adenine, guanine (CAG), with critical limit of 40+ repetitions. The principal symptoms include motor symptoms (chorea, dystonia, disorders of voluntary movements), progressive cognitive deterioration and neuropsychiatric symptoms (behaviour disorders, affective symptoms and so on). The clinical diagnosis is confirmed by a genetic test, which may also be carried out presymptomatically in offsprings of the diseased person. The objective of the 1st study consisted in the characterization of differences in psychiatric examination and neuropsychological testing among the people at risk (PAR), in whom it was recommended to delay the test, and people at risk, who were recommended to continue in the so-called predictive protocol. The total of 52 people have been examined (32 females, 20 males). In addition to the common psychiatric examination we have also administered the Eysenck Personality Questionnaire (EPQ-A), self-rating scale of general psychopathology (SCL- 90), three short cognitive tests - Trail making test, test of Verbal fluency and...
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Psychosociální aspekty Huntingtonovy nemoci / Psychosocial Aspects of Huntington's DiseaseUhrová, Tereza January 2011 (has links)
Huntington's disease (HD) is an autosomal dominant inherited neuro-psychiatric disease with usual onset in the middle age. The mutation, located on the short shoulder of chromosome 4, is an expansion of a nucleotide triplet, containing cytosine, adenine, guanine (CAG), with critical limit of 40+ repetitions. The principal symptoms include motor symptoms (chorea, dystonia, disorders of voluntary movements), progressive cognitive deterioration and neuropsychiatric symptoms (behaviour disorders, affective symptoms and so on). The clinical diagnosis is confirmed by a genetic test, which may also be carried out presymptomatically in offsprings of the diseased person. The objective of the 1st study consisted in the characterization of differences in psychiatric examination and neuropsychological testing among the people at risk (PAR), in whom it was recommended to delay the test, and people at risk, who were recommended to continue in the so-called predictive protocol. The total of 52 people have been examined (32 females, 20 males). In addition to the common psychiatric examination we have also administered the Eysenck Personality Questionnaire (EPQ-A), self-rating scale of general psychopathology (SCL- 90), three short cognitive tests - Trail making test, test of Verbal fluency and...
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Non-Genetics Pediatric Providers' Understanding and Interpretation of a VUS ResultMenke, Chelsea A. 11 July 2019 (has links)
No description available.
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Health Heritage<sup>©</sup>, a Web-Based Tool for the Collection and Assessment of Family Health History: Initial User Experience and Analytic ValidityCohn, W. F., Ropka, M. E., Pelletier, S. L., Barrett, J. R., Kinzie, M. B., Harrison, M. B., Liu, Z., Miesfeldt, S., Tucker, A. L., Worrall, B. B., Gibson, J., Mullins, I. M., Elward, K. S., Franko, J., Guterbock, T. M., Knaus, W. A. 01 December 2010 (has links)
A detailed family health history is currently the most potentially useful tool for diagnosis and risk assessment in clinical genetics. We developed and evaluated the usability and analytic validity of a patient-driven web-based family health history collection and analysis tool. Health Heritage © guides users through the collection of their family health history by relative, generates a pedigree, completes risk assessment, stratification, and recommendations for 89 conditions. We compared the performance of Health Heritage to that of Usual Care using a nonrandomized cohort trial of 109 volunteers. We contrasted the completeness and sensitivity of family health history collection and risk assessments derived from Health Heritage and Usual Care to those obtained by genetic counselors and genetic assessment teams. Nearly half (42%) of the Health Heritage participants reported discovery of health risks; 63% found the information easy to understand and 56% indicated it would change their health behavior. Health Heritage consistently outperformed Usual Care in the completeness and accuracy of family health history collection, identifying 60% of the elevated risk conditions specified by the genetic team versus 24% identified by Usual Care. Health Heritage also had greater sensitivity than Usual Care when comparing the identification of risks. These results suggest a strong role for automated family health history collection and risk assessment and underscore the potential of these data to serve as the foundation for comprehensive, cost-effective personalized genomic medicine.
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Handbuch der monogenen Erbmerkmale beim Hund / Handbook of monogenic hereditary traits in the dogRedde, Sibylle 21 January 2008 (has links)
Ziel der vorliegenden Arbeit war die Erstellung einer Übersicht über alle monogenen Erbkrankheiten und -Merkmale bei Hunden, deren molekulargenetische Ursachen bisher (Stand: Oktober 2007) identifiziert werden konnten. Ein besonderer Schwerpunkt lag dabei auf der Darstellung der verfügbaren Genotypisierungsmethoden.Im Vergleich zu anderen Spezies herrscht auf dem Gebiet der Genomanalyse bei Hunden eine auffallend hohe Forschungsaktivität. Die erste Kopplungskarte wurde 1997 veröffentlicht und ist seitdem stetig erweitert worden. Seit 2001 steht eine integrierte Kopplungskarte zu Verfügung. Ein weiterer Meilenstein war die erste Assemblierung der Sequenz des gesamten caninen Genoms CanFam1.0 im Juli 2004. Seit Mai 2005 ist eine überarbeitete Version (CanFam2.0, Mai 2005) verfügbar. Das große Interesse an der Spezies Canis familiaris in diesem Zusammenhang ist vor allem durch die besondere Eignung des Hundes als Modelltier für humane Erbkrankheiten und -merkmale begründet. Die relativ starke Inzucht innerhalb von Rassen führt zum Auftreten zahlreicher monogener Erbkrankheiten, die phänotypisch und, wie die Forschungsergebnisse der letzten Jahre zeigen, häufig auch genotypisch homolog zu Erkrankungen des Menschen sind. Die Zahl der beim Hund im Zusammenhang mit Erbkrankheiten oder bestimmten morphologischen Merkmalen identifizierten Genmutationen ist in den letzten Jahren rapide angestiegen.Die Nutzung der ständig wachsenden Menge an Daten, die sich aus der beschriebenen Entwicklung ergeben, ist nicht nur für die humanmedizinische Forschung von Interesse, sondern bietet Hundezüchtern die Möglichkeit, über den Einsatz molekulargenetischer Genotypisierungsmethoden mit einer hohen Effizienz gegen Erbkrankheiten und unerwünschte morphologische Merkmale zu selektieren.Inzwischen konnten 86 pathogene Mutationen in 64 Genen als Ursache für bestimmte canine Erbkrankheiten identifiziert werden. Für 66 Mutationen sind DNA-Tests etabliert worden. Ein weiterer DNA-Test zum Nachweis einer pathogenen Mutation beruht auf der Assoziation eines Haplotyps mit der nachzuweisenden Erkrankung. Außerdem sind neun Polymorphismen in fünf Genen beschrieben worden, die mit bestimmten Farbvarianten des Fells und der Nase assoziiert sind. Für sieben dieser Polymorphismen sind DNA-Tests entwickelt worden. (Stand: Oktober 2007)Trotz zahlreicher Quellen (OMIA, Liste der Universität Bern: Gentests beim Hund , Internetseiten verschiedener Firmen und Einrichtungen, die Gentests anbieten und Patentschriften) sind die wesentlichen Detailinformationen oft erst nach längerem Suchen auffindbar. Die vorliegende Arbeit bietet die Grundlage für die Erstellung eines Handbuches, um Tierärzten und Hundezüchtern den Zugang zu verfügbaren DNA-Tests bei Hunden zu erleichtern.
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