| 1. |
- Abacan, MaryAnn, et al.
(författare)
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The Global State of the Genetic Counseling Profession
- 2019
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Ingår i: European Journal of Human Genetics. - : NATURE PUBLISHING GROUP. - 1018-4813 .- 1476-5438. ; 27:2, s. 183-197
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Forskningsöversikt (refereegranskat)abstract
- The profession of genetic counseling (also called genetic counselling in many countries) began nearly 50 years ago in the United States, and has grown internationally in the past 30 years. While there have been many papers describing the profession of genetic counseling in individual countries or regions, data remains incomplete and has been published in diverse journals with limited access. As a result of the 2016 Transnational Alliance of Genetic Counseling (TAGC) conference in Barcelona, Spain, and the 2017 World Congress of Genetic Counselling in the UK, we endeavor to describe as fully as possible the global state of genetic counseling as a profession. We estimate that in 2018 there are nearly 7000 genetic counselors with the profession established or developing in no less than 28 countries.
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| 2. |
- Buchanan, James, et al.
(författare)
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Factor's that impact on women's decision-making around prenatal genomic tests : An international discrete choice survey
- 2022
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Ingår i: Prenatal Diagnosis. - : John Wiley & Sons. - 0197-3851 .- 1097-0223. ; 42:7, s. 934-946
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Tidskriftsartikel (refereegranskat)abstract
- Objective We conducted a survey-based discrete-choice experiment (DCE) to understand the test features that drive women's preferences for prenatal genomic testing, and explore variation across countries. Methods Five test attributes were identified as being important for decision-making through a literature review, qualitative interviews and quantitative scoring exercise. Twelve scenarios were constructed in which respondents choose between two invasive tests or no test. Women from eight countries who delivered a baby in the previous 24 months completed a DCE presenting these scenarios. Choices were modeled using conditional logit regression analysis. Results Surveys from 1239 women (Australia: n = 178; China: n = 179; Denmark: n = 88; Netherlands: n = 177; Singapore: n = 90; Sweden: n = 178; UK: n = 174; USA: n = 175) were analyzed. The key attribute affecting preferences was a test with the highest diagnostic yield (p < 0.01). Women preferred tests with short turnaround times (p < 0.01), and tests reporting variants of uncertain significance (VUS; p < 0.01) and secondary findings (SFs; p < 0.01). Several country-specific differences were identified, including time to get a result, who explains the result, and the return of VUS and SFs. Conclusion Most women want maximum information from prenatal genomic tests, but our findings highlight country-based differences. Global consensus on how to return uncertain results is not necessarily realistic or desirable.
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| 3. |
- Hartwig, Tanja Schlaikjaer, et al.
(författare)
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High risk-What's next? : A survey study on decisional conflict, regret, and satisfaction among high-risk pregnant women making choices about further prenatal testing for fetal aneuploidy
- 2019
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Ingår i: Prenatal Diagnosis. - : WILEY. - 0197-3851 .- 1097-0223. ; 39:8, s. 635-642
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Tidskriftsartikel (refereegranskat)abstract
- Objectives: To investigate decision making among pregnant women when choosing between noninvasive prenatal testing, invasive testing, or no further testing.Methods: Women with a high-risk result from the first trimester screening were invited to fill in two online questionnaires at gestational age 12 to 14 (Q1) and 24 weeks (Q2). The scales used were Decisional Conflict and Regret Scales, Satisfaction with genetic Counselling Scale, and Health-Relevant Personality Inventory.Results: Three hundred thirty-nine women agreed to participate, and the response rates were 76% on Q1 and 88% on Q2. A percentage of 75.4% chose an invasive test, 23.8% chose noninvasive prenatal testing (NIPT), 0.4% chose no further testing, and 0.4% had both NIPT and invasive testing. Among all participants, 13.3% had a high level of decisional conflict. We found that choosing NIPT was associated with a high decisional conflict (p = 0.013), receiving genetic counselling the same day was associated with a high decisional conflict (p = 0.039), and a high satisfaction with the genetic counselling was associated with low decisional conflict (p < 0.001). Furthermore, the personality subtrait alexithymia was associated with low decisional conflict (p = 0.043). There was a significant association between high decisional conflict and later decisional regret (p = 0.008).Conclusion: We present evidence that satisfaction with and timing of counselling are important factors to limit decisional conflict. Interestingly, women choosing NIPT had more decisional conflict than women choosing invasive testing.
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| 4. |
- Hayat Roshanai, Afsaneh, et al.
(författare)
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What Information Do Cancer Genetic Counselees Prioritize?
- 2012
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Ingår i: Journal of Genetic Counseling. - : Springer Verlag (Germany). - 1059-7700 .- 1573-3599. ; 21:4, s. 510-526
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Tidskriftsartikel (refereegranskat)abstract
- This study explored the informational needs of individuals attending genetic counseling for hereditary cancer, using a free-choice and a forced choice method. Prior to the consultation the informational needs of 334 counselees from Sweden and Norway were assessed by the QUOTE-gene (ca) questionnaire and by a study specific forced choice method, using Q-methodology. Questionnaire responses indicated that counselees major concerns pertained to the need to be taken seriously, to be provided with sufficient risk estimation and medical/genetic information and to be involved in the decision making process. Furthermore, prior to counseling, counselees noted that the counselors consideration and skillfulness were also extremely important. Analysis of the Q-sorting results revealed that counselees needs could be assigned to one of five groups: the "need for facts; caring communication and medical information; information and support in communicating the genetic information to others; practical care and practical/medical information". Particularly noteworthy, counselees with varying backgrounds characteristics prioritized different needs. Cancer genetic counselees probably have different needs due to their medical and demographic background when attending genetic counseling. Addressing counselees specific concerns more sufficiently and thereby increasing the overall effectiveness of the counseling session requires increased insight into individual needs, by for instance, utilizing screening methods such as QUOTE-gene (ca) prior to the counseling session.
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| 5. |
- Ingvoldstad, Charlotta, et al.
(författare)
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Implementation of combined ultrasound and biochemistry for risk evaluation of chromosomal abnormalities during the first trimester in Sweden
- 2014
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Ingår i: Acta Obstetricia et Gynecologica Scandinavica. - : Wiley. - 0001-6349 .- 1600-0412. ; 93:9, s. 868-73
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To investigate how the first trimester risk evaluation for Down syndrome is offered and performed.SETTING: Sweden.SAMPLE: All 52 known units working with obstetric ultrasound.METHODS: Study-specific questionnaire and descriptive statistical analyses.MAIN OUTCOME MEASURES: Routines for offering combined ultrasound and biochemistry (CUB), questions about information, questions about tests and analysis used for diagnosis.RESULTS: CUB was performed in 28 600 (26%) of the expected 110 000 pregnancies in Sweden during 2011. Of all pregnant women, 15% were living in a county not offering CUB (only invasive prenatal diagnosis); 44% regardless of age; 15% to women ≥33 years; 24% to women ≥35 years; and 2% to women ≥38 years old. Amniocentesis was the most common method offered when the risk was estimated as high. Of the 47 units that replied, 29 (61.7%) offered only amniocentesis. On the questions about information, 40 (95.2%) stated that they gave verbal information. In addition to verbal information, 17 (40.5%) gave written information. Forty-one of the units (71.9%) stated that the CUB is offered to non-Swedish-speaking women.CONCLUSION: Without consistent national guidelines, the prenatal diagnostic CUB method is offered in an inequitable manner to pregnant women in Sweden. More than half of all pregnant women live in a county where CUB is not offered or is only offered based on age. The results demonstrate the importance of national consistency before the introduction of new prenatal tests, to enhance equal care for all pregnant women.
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| 6. |
- Ingvoldstad, Charlotta
(författare)
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The Involvement of the structures of antisense RNA, target RNA, and their complexes in plasmid R1 copy number regulation
- 2000
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Plasmid R1 is a low-copy-number plasmid which belongs to the incompatibility group FII. R1 regulates its own copy number. Initiation of replication of plasmid R1 requires the binding of the RepA protein to oriR1. RepA acts in cis and has to be synthesized de novo for each round of replication. RepA synthesis is negatively regulated by an antisense RNA, CopA, transcribed from a promoter in the opposite direction to that of the repA mRNA. The target of CopA is located in the leader region of the repA mRNA. CopA and CopT interact as folded structnres; the structures of the two RNAs play a crucial role in the control of the translation of repA.There is an upstream open reading frame defined as tap (translational activator peptide) that partially overlaps with the repA gene. Translation of tap was shown to be required for efficient repA expression. Furthermore, translation of tap was inhibited by the binding of CopA to CopT.The aims of this thesis were to investigate why tap translation is required for efficient RepA synthesis, and how CopA inhibits tap and repA translation. Chemical probing experiments and ribosome binding experiments in vitro suggested that the Shine-Dalgarno (SD) sequence and start codon of repA are normally involved in a stable secondary structure which prevents ribosome binding. As tap overlaps with the repA gene, tap translation disruptsthis structure and the repA ribosome binding site (RBS) becomes accessible to the ribosome. In addition, binding of CopA to CopT was shown to inhibit tap translation directly by interfering with ribosome binding to tap RBS.Computer models of the structure of the CopA/CopT complex were generated based on the chemical and the enzymatic probing experiments. These modelling studies suggest that a complete duplex between the two RNAs is not readily formed in vitro. Instead a so-called kissing complex is formed. This complex involves a four-way junction structure and side-by-side helical alignment.
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| 7. |
- Koido, Kati, et al.
(författare)
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Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe : A multi-professional survey study
- 2023
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Ingår i: European Journal of Medical Genetics. - : Elsevier. - 1769-7212 .- 1878-0849. ; 66:8
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Tidskriftsartikel (refereegranskat)abstract
- Genetic research has identified a large number of genetic variants, both rare and common, underlying neurodevelopmental disorders (NDD) and major psychiatric disorders. Currently, these findings are being translated into clinical practice. However, there is a lack of knowledge and guidelines for psychiatric genetic testing (PsychGT) and genetic counseling (PsychGC). The European Union-funded COST action EnGagE (CA17130) network was started to investigate the current implementation status of PsychGT and PsychGC across 35 participating European countries. Here, we present the results of a pan-European online survey in which we gathered the opinions, knowledge, and practices of a self-selected sample of professionals involved/interested in the field.We received answers from 181 respondents. The three main occupational categories were genetic counselor (21.0%), clinical geneticist (24.9%), and researcher (25.4%). Of all 181 respondents, 106 provide GC for any psychiatric disorder or NDD, corresponding to 58.6% of the whole group ranging from 43.2% in Central Eastern Europe to 66.1% in Western Europe. Overall, 65.2% of the respondents reported that genetic testing is offered to individuals with NDD, and 26.5% indicated the same for individuals with major psychiatric disorders. Only 22.1% of the respondents indicated that they have guidelines for PsychGT. Pharmacogenetic testing actionable for psychiatric disorders was offered by 15%. Interestingly, when genetic tests are fully covered by national health insurance, more genetic testing is provided for individuals with NDD but not those with major psychiatric disorders.Our qualitative analyses of responses highlight the lack of guidelines and knowledge on utilizing and using genetic tests and education and training as the major obstacles to implementation. Indeed, the existence of psychiatric genetic training courses was confirmed by only 11.6% of respondents. The question on the relevance of up-to-date education and training in psychiatric genetics on everyday related practice was highly relevant.We provide evidence that PsychGC and PsychGT are already in use across European countries, but there is a lack of guidelines and education. Harmonization of practice and development of guidelines for genetic counseling, testing, and training professionals would improve equality and access to quality care for individuals with psychiatric disorders within Europe.
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| 8. |
- Lindgren, Peter, et al.
(författare)
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Information about first trimester screening and self-reported distress among pregnant women and partners - Comparing two methods of information giving in Sweden.
- 2017
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Ingår i: Acta Obstetricia et Gynecologica Scandinavica. - : Wiley. - 0001-6349 .- 1600-0412. ; 96:10, s. 1243-1250
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Tidskriftsartikel (refereegranskat)abstract
- INTRODUCTION: Balanced information prior to prenatal diagnosis (PND) aims to help expectant parents to make an informed choice. However, it is important that the information does not increase the expectant parents' psychological distress. The aim was to examine psychological distress among expectant parents, before and after receiving information about PND, to evaluate the possible differences between two different procedures of information giving, and to evaluate the association between satisfaction with the information and psychological distress.MATERIAL AND METHODS: A longitudinal design, based on questionnaire data from 380 expectant parents from four counties in Sweden. The measurement points; T1, before the information about PND was given and T2, two weeks after the prenatal screening or 15 weeks of gestation. The Hospital Anxiety and Depression Scale (HADS) and the Swedish version of the Cambridge Worrying Scale (CWS) measured psychological distress. The Satisfaction with Genetic Counseling Scale (SCS) measured satisfaction with information about PND.RESULTS: The rate of psychological distress was stable among the pregnant women, but decreased among their partners, after the information was received. General anxiety and the social-medical dimension of pregnancy-related worry decreased among the participants who received information, using the more distinct two-stage process (group A), but was unchanged in group B (less distinct two-stage process). Health-related worry decreased in both groups, whereas relational worry and level of depressive symptoms were unchanged in both groups.CONCLUSION: Information about PND does not increase the psychological distress among expectant parents. A more distinct two-stage process of information giving might even decrease their anxiety.
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| 9. |
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| 10. |
- Middleton, Anna, et al.
(författare)
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Global Public Perceptions of Genomic Data Sharing : What Shapes the Willingness to Donate DNA and Health Data?
- 2020
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 107:4, s. 743-752
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Tidskriftsartikel (refereegranskat)abstract
- Analyzing genomic data across populations is central to understanding the role of genetic factors in health and disease. Successful data sharing relies on public support, which requires attention to whether people around the world are willing to donate their data that are then subsequently shared with others for research. However, studies of such public perceptions are geographically limited and do not enable comparison. This paper presents results from a very large public survey on attitudes toward genomic data sharing. Data from 36,268 individuals across 22 countries (gathered in 15 languages) are presented. In general, publics across the world do not appear to be aware of, nor familiar with, the concepts of DNA, genetics, and genomics. Willingness to donate one's DNA and health data for research is relatively low, and trust in the process of data's being shared with multiple users (e.g., doctors, researchers, governments) is also low. Participants were most willing to donate DNA or health information for research when the recipient was specified as a medical doctor and least willing to donate when the recipient was a for-profit researcher. Those who were familiar with genetics and who were trusting of the users asking for data were more likely to be willing to donate. However, less than half of participants trusted more than one potential user of data, although this varied across countries. Genetic information was not uniformly seen as different from other forms of health information, but there was an association between seeing genetic information as special in some way compared to other health data and increased willingness to donate. The global perspective provided by our "Your DNA, Your Say" study is valuable for informing the development of international policy and practice for sharing genomic data. It highlights that the research community not only needs to be worthy of trust by the public, but also urgent steps need to be taken to authentically communicate why genomic research is necessary and how data donation, and subsequent sharing, is integral to this.
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