| 1. |
- Carlsson, Christina, et al.
(författare)
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Living with Hereditary Non-polyposis Colorectal Cancer; Experiences from and Impact of Genetic Testing.
- 2007
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Ingår i: Journal of Genetic Counseling. - : Wiley. - 1059-7700 .- 1573-3599. ; 16:6, s. 20-811
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Tidskriftsartikel (refereegranskat)abstract
- Hereditary non-polyposis colorectal cancer (HNPCC) is one of our most common cancer syndromes and an increasing number of individuals live in families with verified hereditary cancer. We conducted an interview study to explore experiences from and perceived impact on life after genetic testing for HNPCC. Three major themes emerged: reactions and emotions, family relations and implications for life. Among the reactions described were suspecting heredity, feelings of guilt, the importance of experiential knowledge, and coping strategies. The impact on family relations was related to perceived responsibility for conveying information, encountering different reactions among family members, and difficulties in communication and relations. The implications described included uncertainty, adaptation, new choices and changes in life, family planning issues, and experiences of surveillance programs. We suggest that the themes and sub-themes identified should be taken into account during genetic counselling in order to facilitate the spread of information and to prepare family members for the impact on life that knowledge about hereditary cancer may have.
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| 2. |
- Georgsson, Susanne, et al.
(författare)
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Knowledge and attitudes regarding non-invasive prenatal testing (NIPT) and preferences for risk information among high school students in Sweden
- 2017
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Ingår i: Journal of Genetic Counseling. - New York : Human Sciences Press. - 1059-7700 .- 1573-3599. ; 26:3, s. 447-454
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Tidskriftsartikel (refereegranskat)abstract
- Non-invasive prenatal testing (NIPT) was recently introduced for prenatal testing of genetic disorders. Cell-free fetal DNA is present in maternal blood during pregnancy and enables detection of fetal chromosome aberrations in a maternal blood sample. The public perspective to this new, simple method has not been illuminated. The views of young people (i.e. future parents) are important to develop suitable counseling strategies regarding prenatal testing. The aim was to explore Swedish high school students' attitudes, knowledge and preferences regarding NIPT. A questionnaire was completed by 305 students recruited from one high school in Stockholm, November and December 2014. Most students (80 %) considered prenatal testing as good. The majority (65 %) was positive or very positive towards NIPT and 62 % stated that they potentially would like to undergo the test if they or their partner was pregnant. The vast majority (94 %) requested further information about NIPT. Most students (61 %) preferred verbal information, whereas 20 % preferred information via the Internet. The majority of the high school students was positive towards prenatal testing and most was positive towards NIPT. Further, information was requested by the vast majority before making a decision about NIPT. Most of the students preferred verbal information and to a lesser extent information via the Internet. The attitudes, knowledge and preferences for risk information concerning NIPT in young adults are important, in order to increase knowledge on how to educate and inform future parents.
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| 3. |
- Hagberg, Anette, et al.
(författare)
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More Appreciation of Life or Regretting the Test? : Experiences of Living as a Mutation Carrier of Huntington's Disease
- 2011
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Ingår i: Journal of Genetic Counseling. - : Wiley. - 1059-7700 .- 1573-3599. ; 20:1, s. 70-79
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Tidskriftsartikel (refereegranskat)abstract
- Little is known about how the knowledge of being a mutation carrier for Huntington's disease (HD) influences lives, emotionally and socially. In this qualitative study 10 interviews were conducted to explore the long term (> 5 years) experiences of being a mutation carrier. The results showed a broad variety of both positive and negative impact on the carriers' lives. The most prominent positive changes reported were a greater appreciation of life and a tendency to bring the family closer together. On the other hand, some participants expressed decisional regrets and discussed the negative impact this knowledge had on their psychological well-being. The knowledge variously served as either a motivator or an obstacle in pursuing further education, career or investment in personal health. Deeper understanding of people's reactions to the certainty of knowing they will become affected with HD is essential for the genetic counseling team in order to provide appropriate support.
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| 4. |
- Hamang, Anniken, et al.
(författare)
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Predictors of Heart-Focused Anxiety in Patients Undergoing Genetic Investigation and Counseling of Long QT Syndrome or Hypertrophic Cardiomyopathy : A One Year Follow-up
- 2012
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Ingår i: Journal of Genetic Counseling. - : Wiley. - 1059-7700 .- 1573-3599. ; 21:1, s. 72-84
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Tidskriftsartikel (refereegranskat)abstract
- Since Long QT syndrome and Hypertrophic cardiomyopathy are inherited cardiac disorders that may cause syncope, palpitations, serious arrhythmias, and sudden cardiac death, at-risk individuals may experience heart-focused anxiety. In a prospective multi-site study, 126 Norwegian patients attending genetic counseling were followed 1 year with multiple administration of questionnaires, including the Cardiac Anxiety Questionnaire, measuring three distinct symptoms of heart-focused anxiety- avoidance, attention, and fear-in mixed linear analyses. Overall, at 1-year follow-up, patients with clinical diagnosis as compared to patients at genetic risk had significantly higher scores of avoidance (p < .002), attention (p < .005), and fear (p < .007). Sudden cardiac death in close relatives, uncertainty whether other relatives previously had undergone genetic testing, patients' perceived general health, self-efficacy expectations and procedural satisfaction with genetic counseling were influential in predicting the different symptoms of heart-focused anxiety over time.
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| 5. |
- 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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| 6. |
- Järvholm, Stina, et al.
(författare)
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Experiences of Pre-Implantation Genetic Diagnosis (PGD) in Sweden: a Three-Year Follow-Up of Men and Women.
- 2017
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Ingår i: Journal of genetic counseling. - : Wiley. - 1573-3599 .- 1059-7700. ; 26:5, s. 1008-1016
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Tidskriftsartikel (refereegranskat)abstract
- Men and women with a hereditary genetic disease are faced with different options when they wish to become parents. One is pre-implantation genetic diagnosis (PGD) which is a combination of in vitro fertilization (IVF) and genetic analysis of the embryo before implantation. The present study focused on men and women's psychological experiences of PGD three years after applying for PGD. Nineteen women and seventeen men (i.e. seventeen couples and two women) participated. The interviews were analysed by thematic method. It is better to have tried was identified as a master theme, under which came three underlying sub-themes, which had the following headings: Practical experience of PGD, Psychological experience of PGD and Goals of PGD. The results show that men and women three years after PGD are still psychologically affected by their experience. The men and women raised concerns that their relationship had been affected, both positively and negatively, and feelings of anxiety and depression still remained. Healthcare services should recognize the heterogeneous nature of the group being studied and therefore the need for counselling can arise at different times and in relation to different areas, regardless of the outcome of the PGD.
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| 7. |
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| 8. |
- Melas, Philippe A, et al.
(författare)
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Information related to prenatal genetic counseling : interpretation by adolescents, effects on risk perception and ethical implications
- 2012
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Ingår i: Journal of Genetic Counseling. - : Wiley. - 1059-7700 .- 1573-3599. ; 21:4, s. 536-46
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Tidskriftsartikel (refereegranskat)abstract
- Being raised in the genomic era may not only increase knowledge of available genetic testing but may also have an impact on how genetic information is perceived. However, little is known about how current adolescents react to the language commonly used by health care professionals providing prenatal counseling. In addition, as risk communication is related to numbers and figures, having different educational backgrounds may be associated with variability in risk perceptions. In order to investigate these issues, a previously developed questionnaire studying different ways of being told about hypothetical anomalies in a baby and corresponding risks (Abramsky and Fletcher Prenatal Diagnosis 22(13):1188-1194, 2002) was administered to high-school students in Sweden. A total of 344 questionnaires were completed by students belonging to a natural science or a social science program. The data show that teenage participants found technical jargon and words such as rare and abnormal more worrying than the presented comparison terms. Negative framing effects and perception differences related to numeric risk formats were also present. Additionally, participants' gender and educational program did not seem to have an effect on risk assessment. In addition to reporting the questionnaire results, we discuss the ethical implications of the data based on the norm of non-directiveness and make some recommendations for practice. In general, genetic counselors should be aware that the language used within clinical services can be influential on this group of upcoming counselees.
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| 9. |
- Pestoff, Rebecka, et al.
(författare)
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Translation, cross-cultural adaptation, and preliminary validation of a patient-reported outcome measure for genetic counseling outcomes in Sweden
- 2024
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Ingår i: Journal of Genetic Counseling. - : WILEY. - 1059-7700 .- 1573-3599.
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Tidskriftsartikel (refereegranskat)abstract
- Genetic counseling is key for understanding the consequences of hereditary and genetic diseases and, therefore, crucial for patients, their families, and healthcare providers. Genetic counseling facilitates individuals' comprehension, decision-making, and adaptation to hereditary diseases. This study focuses on the Swedish adaptation of the Genetic Counseling Outcome Scale-24 (GCOS-24), an internationally validated, patient-reported outcome measure (PROM) for quantifying patient empowerment in genetic counseling. This study aimed to translate and cross-culturally adapt the GCOS-24 to measure patient-reported outcome from genetic counseling in Sweden. The adaptation process was meticulously conducted, adhering to international guidelines, with cross-cultural adaptation, translation, and back translation, to ensure semantic, conceptual, and idiomatic equivalence with the original English version. Face validity and understandability was assured using qualitative cognitive interviews conducted with patient representatives, and by a committee of experts in the field. The psychometric properties of the Swedish version of GCOS-24 (GCOS-24swe) were evaluated using a robust sample of 374 patients. These individuals received genetic counseling by telephone or video, necessitated by the constraints of the COVID-19 pandemic. Participants responded to GCOS-24swe both before and after genetic counseling. The GCOS-24swe demonstrated face validity, good internal consistency (Cronbach's alpha = 0.86), significant responsiveness (Cohen's d = 0.65, p < 0.001), and good construct validity. The study's findings underscore the GCOS-24swe's potential as an effective instrument in both clinical practice and research within Sweden. It offers a valuable means for assessing patient empowerment, a key goal of genetic counseling. Additional psychometric assessment of test-retest reliability and interpretability would further enhance the utility of GCOS-24swe.
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| 10. |
- Petersen, Helle Vendel, et al.
(författare)
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Balancing Life with an Increased Risk of Cancer: Lived Experiences in Healthy Individuals with Lynch Syndrome
- 2014
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Ingår i: Journal of Genetic Counseling. - : Wiley. - 1059-7700 .- 1573-3599. ; 23:5, s. 778-784
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Tidskriftsartikel (refereegranskat)abstract
- Possibilities to undergo predictive genetic testing for cancer have expanded, which implies that an increasing number of healthy individuals will learn about cancer predisposition. Knowledge about how an increased risk of disease influences life in a long-term perspective is largely unknown, which led us to explore lived experiences in healthy mutation carriers with Lynch syndrome. Individual interviews were subjected to descriptive phenomenological analysis. Four constitutions, namely, family context, interpretation and transformation, approach to risk and balancing life at risk were identified and formed the essence of the phenomenon "living with knowledge about risk." Family context influences how experiences and knowledge are interpreted and transformed into thoughts and feelings, which relates to how risk is approached and handled. The constitutions influence each other in a dynamic relationship and create a balancing act between anxiety and worry and feelings of being safe and in control.
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