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  • 1.
    Pestoff, Rebecka
    et al.
    Linköping University, Department of Biomedical and Clinical Sciences, Division of Cell Biology. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Center for Diagnostics, Clinical genetics.
    Danielsson, Henrik
    Linköping University, Department of Behavioural Sciences and Learning, Disability Research Division. Linköping University, Faculty of Arts and Sciences. Linköping University, The Swedish Institute for Disability Research.
    McAllister, Marion
    Cardiff Univ, Wales.
    Johansson, Peter
    Linköping University, Department of Health, Medicine and Caring Sciences, Division of Nursing Sciences and Reproductive Health. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Local Health Care Services in East Östergötland, Department of Internal Medicine in Norrköping.
    Gunnarsson, Cecilia
    Linköping University, Department of Health, Medicine and Caring Sciences, Division of Diagnostics and Specialist Medicine. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Center for Diagnostics, Clinical genetics.
    Translation, cross-cultural adaptation, and preliminary validation of a patient-reported outcome measure for genetic counseling outcomes in Sweden2024In: Journal of Genetic Counseling, ISSN 1059-7700, E-ISSN 1573-3599Article in journal (Refereed)
    Abstract [en]

    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.

  • 2. Order onlineBuy this publication >>
    Pestoff, Rebecka A.
    Linköping University, Department of Biomedical and Clinical Sciences, Division of Cell Biology. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Center for Diagnostics, Clinical genetics.
    Improving Access and Quality of Genetic Counselling in Clinical Care in Sweden: The Value of eHealth Solutions and a Validated Outcome Measure2023Doctoral thesis, comprehensive summary (Other academic)
    Abstract [en]

    Genetic counselling is increasingly important for investigations into hereditary diseases in the field of clinical genetics. The increase in demand is due to the discovery of more genetically caused diseases, increased complexity and awareness of genetic testing. However, access to genetic counselling is limited worldwide, as in Sweden, and not always offered as needed, because there is a lack of trained professionals, such as genetic counsellors and geneticists. Additionally, genetic counselling is difficult to evaluate as there is no validated quality measure for genetic counselling in Swedish. This work investigates important factors for improving access to and quality of genetic counselling in Sweden.

    The studied factors include such as the genetic counsellors, the use and implementation of eHealth technology, and the possibility to evaluate these areas using a valid outcome measure in Swedish. This dissertation consists of four studies. The first is a questionnaire study that found that genetic counsellors in Sweden play an integral role in patient care and access, and provide quality patient support throughout the clinical encounter. However, it also found that there was a lack of trained genetic counsellors and that they were overly burdened with administrative work, such as sample handling, billing and making appointments. This reduced the genetic counsellors’ time spent directly with patients, thus hampering patient access. The second study investigated healthcare professionals’ pre-pandemic perceptions of using a specific eHealth technology providing genetic counselling via video or telephone, termed telegenetic counselling (TGC) throughout this dissertation. Findings showed that TGC was considered appropriate, believed to increase patient access and autonomy, and improve patient care. Yet, the healthcare professionals expressed some reluctance and identified many barriers to using TGC, such as the lack of evidence, and anticipated issues with technology and resources. Nevertheless, taking place during the COVID-19 pandemic, the third study investigated the feasibility of rapid implementation of TGC in a real, clinical context. Both healthcare professionals and patients found TGC acceptable, useful and satisfactory, and TGC also improved access to genetic counselling during the pandemic. The implementation of TGC proved effective in regards to the overall goal of genetic counselling: increased patient empowerment after genetic counselling. This was measured by the newly adapted patient-reported outcome measure in genetic counselling in Swedish, the GCOS-24swe. The fourth study performed a psychometric evaluation of the GCOS-24swe and showed validity, reliability, and responsiveness of the outcome measure. Therefore, the GCOS-24swe provides a useful clinical quality measure to inform developments in genetic counselling practice, individualised patient care, and evaluation of implementation efforts in Sweden. Finally, a synthesis of these research findings results in a suggested implementation strategy for TGC in the clinical context. In summary, this dissertation identifies ways to improve the access to and measure the quality of genetic counselling in Sweden.

    List of papers
    1. Genetic counsellors in Sweden: their role and added value in the clinical setting.
    Open this publication in new window or tab >>Genetic counsellors in Sweden: their role and added value in the clinical setting.
    2016 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 24, no 3, p. 350-355Article in journal (Refereed) Published
    Abstract [en]

    Genetic testing is becoming more commonplace in general and specialist health care and should always be accompanied by genetic counselling, according to Swedish law. Genetic counsellors are members of the multi-disciplinary team providing genetic counselling. This study examined the role and added value of genetic counsellors in Sweden, using a cross-sectional on-line survey. The findings showed that the genetic counsellors added value in the clinical setting by acting as the 'spider-in-the-web' regarding case management, having a more holistic, ethical and psychological perspective, being able to offer continuous support and build a relationship with the patient, and being more accessible than medical geneticists. The main difference between a genetic counsellor and medical geneticist was that the doctor had the main medical responsibility. Thus genetic counsellors in Sweden contribute substantially to the care of patients in the clinical genetic setting.

    Place, publisher, year, edition, pages
    Nature Publishing Group, 2016
    National Category
    Health Care Service and Management, Health Policy and Services and Health Economy Social and Clinical Pharmacy Nursing Ethics Other Medical Sciences not elsewhere specified
    Identifiers
    urn:nbn:se:liu:diva-125896 (URN)10.1038/ejhg.2015.110 (DOI)000370469500011 ()26014428 (PubMedID)
    Note

    Funding agencies:  Department of Clinical Pathology and Clinical Genetics; Department of Clinical and Experimental Medicine, Linkoping University, Linkoping, Sweden

    Available from: 2016-03-07 Created: 2016-03-07 Last updated: 2023-04-28Bibliographically approved
    2. Factors influencing use of telegenetic counseling: perceptions of health care professionals in Sweden
    Open this publication in new window or tab >>Factors influencing use of telegenetic counseling: perceptions of health care professionals in Sweden
    2019 (English)In: Journal of Community Genetics, ISSN 1868-310X, E-ISSN 1868-6001, Vol. 10, no 3, p. 407-415Article in journal (Refereed) Published
    Abstract [en]

    Genetic counseling services are increasing in demand and limited in access due to barriers such as lack of professional genetic counselors, vast geographic distances, and physical hurdles. This research focuses on an alternative mode of delivery for genetic counseling in Sweden, in order to overcome some of the mentioned barriers. The aim of this study is to identify factors that influence the implementation and use of telegenetic counseling in clinical practice, according to health care professionals in Southeast Sweden. Telegenetic counseling refers to the use of video-conferencing as a means to provide genetic counseling. Qualitative, semi-structured interviews with 16 genetic counseling providers took place and phenomenographic analysis was applied. Significant excerpts were identified in each transcript, which led to sub-categories that constructed the main findings. Three categories emerged from the data: (1) requirements for optimal use, (2) impact on clinical practice, and (3) patient benefits. Each category consists of two or three sub-categories, in total seven sub-categories. These findings could potentially be used to improve access and uptake of telegenetic counseling in Sweden and in other countries with a similar health care system. This could benefit not only remote patient populations, as described in previous research, but also large family groups and patients experiencing obstacles in accessing genetic counseling, such as those with a psychiatric illness or time constraints, and be a useful way to make genetic counseling available in the new era of genomics.

    Place, publisher, year, edition, pages
    SPRINGER HEIDELBERG, 2019
    Keywords
    Genetic counseling; Telegenetic; Implementation
    National Category
    Medical Ethics
    Identifiers
    urn:nbn:se:liu:diva-158949 (URN)10.1007/s12687-018-00404-5 (DOI)000472908300009 ()30617812 (PubMedID)
    Note

    Funding Agencies|Centre for Rare Diseases Southeast, Linkoping University Hospital, Linkoping, Sweden

    Available from: 2019-07-20 Created: 2019-07-20 Last updated: 2023-04-28
    3. Rapid Implementation of Telegenetic Counseling in the COVID-19 and Swedish Healthcare Context: A Feasibility Study
    Open this publication in new window or tab >>Rapid Implementation of Telegenetic Counseling in the COVID-19 and Swedish Healthcare Context: A Feasibility Study
    Show others...
    2022 (English)In: Frontiers in Health Services, E-ISSN 2813-0146, Vol. 2Article in journal (Refereed) Published
    Abstract [sv]

    This study reports the process and preliminary findings of rapid implementation oftelegenetic counseling in the context of Swedish healthcare and COVID-19 pandemic,from both a patient and a provider perspective. Fourty-nine patients and 6 healthcareprofessionals were included in this feasibility study of telegenetic counseling in aregional Department of Clinical Genetics in Sweden. Telegenetic counseling is heredefined as providing genetic counseling to patients by video (n =30) or telephone (n= 19) appointments. Four specific feasibility aspects were considered: acceptability,demand, implementation, and preliminary efficacy. Several measures were used includingthe Genetic Counseling Outcome Scale 24 (collected pre- and post-counseling); theTelehealth Usability Questionnaire; a short study specific evaluation and Visiba Careevaluations, all collected post-counseling. The measures were analyzed with descriptivestatistics and the preliminary results show a high level of acceptance and demand, fromboth patients and providers. Results also indicate successful initial implementation in theregional Department of Clinical Genetics and preliminary efficacy, as shown by significantclinically important improvement in patients’ empowerment levels.

    Place, publisher, year, edition, pages
    Frontiers Media S.A., 2022
    National Category
    Social and Clinical Pharmacy
    Identifiers
    urn:nbn:se:liu:diva-189246 (URN)10.3389/frhs.2022.848512 (DOI)001112626500001 ()
    Available from: 2022-10-14 Created: 2022-10-14 Last updated: 2024-05-16Bibliographically approved
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  • 3.
    Pestoff, Rebecka
    et al.
    Linköping University, Department of Health, Medicine and Caring Sciences, Division of Society and Health. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Center for Diagnostics, Clinical genetics.
    Johansson, Peter
    Linköping University, Department of Health, Medicine and Caring Sciences, Division of Nursing Sciences and Reproductive Health. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Local Health Care Services in East Östergötland, Department of Internal Medicine in Norrköping.
    Danielsson, Henrik
    Linköping University, Department of Behavioural Sciences and Learning, Disability Research Division. Linköping University, Faculty of Arts and Sciences. Linköping University, The Swedish Institute for Disability Research.
    Neher, Margit
    Department of Rehabilitation, School of Health and Welfare, Jönköping University, Jönköping, Sweden.
    Gunnarsson, Cecilia
    Linköping University, Department of Health, Medicine and Caring Sciences, Division of Society and Health. Linköping University, Department of Biomedical and Clinical Sciences. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Center for Diagnostics, Clinical genetics. Region Östergötland, Regionledningskontoret, Övr Regionledningskontoret.
    Rapid Implementation of Telegenetic Counseling in the COVID-19 and Swedish Healthcare Context: A Feasibility Study2022In: Frontiers in Health Services, E-ISSN 2813-0146, Vol. 2Article in journal (Refereed)
    Abstract [sv]

    This study reports the process and preliminary findings of rapid implementation oftelegenetic counseling in the context of Swedish healthcare and COVID-19 pandemic,from both a patient and a provider perspective. Fourty-nine patients and 6 healthcareprofessionals were included in this feasibility study of telegenetic counseling in aregional Department of Clinical Genetics in Sweden. Telegenetic counseling is heredefined as providing genetic counseling to patients by video (n =30) or telephone (n= 19) appointments. Four specific feasibility aspects were considered: acceptability,demand, implementation, and preliminary efficacy. Several measures were used includingthe Genetic Counseling Outcome Scale 24 (collected pre- and post-counseling); theTelehealth Usability Questionnaire; a short study specific evaluation and Visiba Careevaluations, all collected post-counseling. The measures were analyzed with descriptivestatistics and the preliminary results show a high level of acceptance and demand, fromboth patients and providers. Results also indicate successful initial implementation in theregional Department of Clinical Genetics and preliminary efficacy, as shown by significantclinically important improvement in patients’ empowerment levels.

    Download full text (pdf)
    fulltext
  • 4.
    Pestoff, Rebecka
    Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Center for Diagnostics, Clinical genetics. Linköping University, Department of Biomedical and Clinical Sciences, Division of Cell Biology. Linköping University.
    Recension: Efterlängtat om genetisk vägledning2022In: Läkartidningen, ISSN 0023-7205, E-ISSN 1652-7518Article, book review (Other (popular science, discussion, etc.))
    Abstract [sv]

    Detta är en efterlängtad bok på svenska inom området genetisk vägledning, ett snabbt växande fält inom hälsovård och preventiv vård. Ökad kunskap om genetikens påverkan i många vanliga sjukdomar såsom cancer, hjärt–kärlsjukdom och neurologiska tillstånd, men även i många ovanliga tillstånd, ger vården allt större utmaningar att förvalta kunskapen och göra om den till något användbart för patienterna och deras anhöriga.

    Det är där, i patientmötet, som den genetiska vägledningen sker som en process. »Genetisk vägledning« beskriver de olika praktiska delarna i den processen. Boken ger tips och förslag och är ett välkommet tillskott till den växande skara av vårdgivare som dagligen, eller ibland, möter patienter och anhöriga med frågor kring ärftlighet och genetisk diagnos. Texten ger en bas som behövs för att förstå syftet och processen bakom genetisk vägledning. Boken beskriver strukturen i den genetiska vägledningen och belyser de viktigaste hållpunkterna i den processen, till exempel med flera kapitel om samtal och samtalskonst och hur vårdgivaren kan förhålla sig till patienters olika upplevelser av risker, kriser och bemötande av känslor. Boken lyfter även fram vikten av familjens roll och behovet av stöd till patienterna, och avslutas med beskrivande förklaringar och bilder av grundläggande genetik och genetiska koncept.

    »Genetisk vägledning« ger möjlighet för alla professionella nivåer, från student till mångårigt erfaren vårdgivare, att bygga på sina kunskaper och färdigheter inom genetisk vägledning. Den sammanfattar på ett pedagogiskt, lättillgängligt och okomplicerat sätt de olika praktiska delarna i processen, vilket gör den lätt att ta till sig oavsett professionell bakgrund. Studenter som använt boken i masterprogrammet i genetisk vägledning har lyft fram denna som en av de viktigaste böckerna som gett dem inblick i och förståelse för den profession de snart ska bemästra.

    Ulrika Hösterey Ugander avled i december 2020. Boken togs fram av henne och Ulf Kristoffersson, som sedan slutförde arbetet. 

  • 5.
    Pestoff, Rebecka
    et al.
    Linköping University, Department of Biomedical and Clinical Sciences, Division of Cell Biology. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Center for Diagnostics, Clinical genetics.
    Svensson, Karin
    Division of Laboratory Medicine, Department of Clinical Genetics and Pathology, Region Skåne, Office for Medical services , SE-221 85, Lund, Sweden.
    Paneque, Milena
    i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; IBMC - Institute for Molecular and Cell Biology, Universidade do Porto, Porto, Portugal; Centre for Predictive and Preventive Genetics (CGPP), Universidade do Porto, Porto, Portugal.
    Malmgren, Charlotta Ingvoldstad
    Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Stockholm, Sweden; Department of Public Health and Caring Science, Uppsala University, Uppsala, Sweden; Department of Womens and Childrens Health, Uppsala University, Uppsala, Sweden; Center for Fetal Medicine, Karolinska University Hospital, 17176, Stockholm, Sweden.
    Developing a national certification pathway for genetic counselors in Sweden-a short report2020In: Journal of Community Genetics, ISSN 1868-310X, E-ISSN 1868-6001, Vol. 11, no 1, p. 113-117Article in journal (Refereed)
    Abstract [en]

    There is no Masters level education for genetic counseling in Sweden, meaning that genetic counselor professionals have very different backgrounds. Hence, there is a need to harmonize the quality of genetic counseling and introduce standards for practice. The Swedish Society for Genetic Counselors and the Swedish Society of Medical Genetics and Genomics collaborated to determine professional requirements and a career pathway, defining three vocational levels within the genetic counselor profession. We report here an individual educational pathway leading up to eligibility for certification as a genetic counselor in Sweden.

  • 6.
    Pestoff, Rebecka
    et al.
    Linköping University, Department of Clinical and Experimental Medicine, Division of Cell Biology. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Center for Diagnostics, Clinical genetics.
    Johansson, Peter
    Linköping University, Department of Social and Welfare Studies, Division of Nursing Science. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Local Health Care Services in East Östergötland, Department of Internal Medicine in Norrköping.
    Nilsen, Per
    Linköping University, Department of Medical and Health Sciences, Division of Community Medicine. Linköping University, Faculty of Medicine and Health Sciences.
    Gunnarsson, Cecilia
    Linköping University, Department of Clinical and Experimental Medicine, Division of Cell Biology. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Center for Diagnostics, Clinical genetics.
    Factors influencing use of telegenetic counseling: perceptions of health care professionals in Sweden2019In: Journal of Community Genetics, ISSN 1868-310X, E-ISSN 1868-6001, Vol. 10, no 3, p. 407-415Article in journal (Refereed)
    Abstract [en]

    Genetic counseling services are increasing in demand and limited in access due to barriers such as lack of professional genetic counselors, vast geographic distances, and physical hurdles. This research focuses on an alternative mode of delivery for genetic counseling in Sweden, in order to overcome some of the mentioned barriers. The aim of this study is to identify factors that influence the implementation and use of telegenetic counseling in clinical practice, according to health care professionals in Southeast Sweden. Telegenetic counseling refers to the use of video-conferencing as a means to provide genetic counseling. Qualitative, semi-structured interviews with 16 genetic counseling providers took place and phenomenographic analysis was applied. Significant excerpts were identified in each transcript, which led to sub-categories that constructed the main findings. Three categories emerged from the data: (1) requirements for optimal use, (2) impact on clinical practice, and (3) patient benefits. Each category consists of two or three sub-categories, in total seven sub-categories. These findings could potentially be used to improve access and uptake of telegenetic counseling in Sweden and in other countries with a similar health care system. This could benefit not only remote patient populations, as described in previous research, but also large family groups and patients experiencing obstacles in accessing genetic counseling, such as those with a psychiatric illness or time constraints, and be a useful way to make genetic counseling available in the new era of genomics.

    Download full text (pdf)
    fulltext
  • 7.
    Pestoff, Rebecka
    et al.
    Linköping University, Department of Clinical and Experimental Medicine, Division of Cell Biology. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Center for Diagnostics, Clinical genetics.
    Moldovan, R.
    Babes Bolyai Univ, Romania.
    Cordier, C.
    Synlab Genet, Switzerland.
    Serra-Juhe, C.
    Univ Pompeu Fabra Hosp Mar Res Inst IMIM, Spain; Inst Salud Carlos III, Spain.
    Paneque, M.
    Univ Porto, Portugal; Univ Porto, Portugal.
    Ingvoldstad, C. M.
    Uppsala Univ, Sweden; Karolinska Inst, Sweden; Uppsala Univ, Sweden.
    How practical experiences, educational routes and multidisciplinary teams influence genetic counselors clinical practice in Europe2018In: Clinical Genetics, ISSN 0009-9163, E-ISSN 1399-0004, Vol. 93, no 4, p. 891-898Article in journal (Refereed)
    Abstract [en]

    The main objective of our study was to explore whether, and to what extent, genetic counselors characteristics impact on their tasks in practice. Specifically, we explored the complementariness between genetic counselors and medical geneticists and therefore looked at the most relevant tasks of genetic counselors, according to genetic counselors themselves and according to the medical geneticists they work with. A total of 104 genetic counselors and 29 medical geneticists from 15 countries completed a purposefully designed questionnaire. Results showed that most genetic counselors in Europe perform similar tasks, irrespective of their backgrounds. When looking at the factors influencing genetic counselors roles data showed that the type of tasks performed by genetic counselors is associated with the years of experience in the field, not with their background or education. Of particular interest was the consensus between genetic counselors and medical geneticists regarding the genetic counselors role. Not surprisingly, tasks with more psychosocial implications were seen as genetic counselors eligibility while tasks with more medical implications were seen as medical geneticists attribution. Our study shows that most genetic counselors work in tune with international recommendations and seem to be supportive of multidisciplinary teams. Corroborating our data with previous research, we discuss potential implications for practice and training in genetic counseling.

  • 8.
    Paneque, Milena
    et al.
    University of Porto, Portugal.
    Serra-Juhe, Clara
    University of Pompeu Fabra, Spain; Institute Salud Carlos III, Spain.
    Pestoff, Rebecka
    Linköping University, Department of Clinical and Experimental Medicine, Division of Cell Biology. Linköping University, Faculty of Medicine and Health Sciences.
    Cordier, Christophe
    Synlab Genet, Switzerland.
    Silva, Joao
    University of Porto, Portugal.
    Moldovan, Ramona
    Babes Bolyai University, Romania.
    Ingvoldstad, Charlotta
    Uppsala University, Sweden; Karolinska Institute, Sweden; Uppsala University, Sweden.
    Complementarity between medical geneticists and genetic counsellors: its added value in genetic services in Europe2017In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 25, no 8, p. 918-923Article in journal (Refereed)
    Abstract [en]

    Clinical genetic services have progressed significantly the last few decades. This has led to the need for non-medical health-care professionals working as genetic counsellors in Europe and worldwide. However, there is no unified approach to genetic counsellors role in health-care services in Europe, as in most countries the profession is still emerging and the educational backgrounds diverge noticeably, within and between countries. This qualitative study aims to describe the potential added value of genetic counsellors in clinical genetics teams and to explore their tasks and responsibilities in different European countries. A total of 143 participants providing genetic counselling in Europe at the time of the survey responded. The results show differences in activities of genetic counsellors, although there is a wide range of roles, which are similar. The ability to establish a quality relationship with consultands was frequently mentioned as one of the strengths of genetic counsellors, as well as a patient-centred approach. It is believed that genetic counsellors add a more holistic approach of psychosocial and familial dimensions of genetic concerns to the multidisciplinary teams. This study provides examples of successful integration of genetic counsellors in teams, as complementariness with medical geneticist became clear in several cases. Although the added value of genetic counsellors was manifested, professional recognition of genetic counsellors across Europe is still needed in order to support the quality of patients care and safety of practice.

  • 9.
    Pestoff, Rebecka
    et al.
    Linköping University, Department of Clinical and Experimental Medicine, Division of Cell Biology. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Center for Diagnostics, Department of Clinical Pathology and Clinical Genetics.
    Ingvoldstad, Charlotta
    CLINTECH, Obstretrics and Gynaecology, Karolinska Institute, Solna, Sweden.
    Skirton, Heather
    Department of Applied Health Genetics, Plymouth University, Plymouth, UK.
    Genetic counsellors in Sweden: their role and added value in the clinical setting.2016In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 24, no 3, p. 350-355Article in journal (Refereed)
    Abstract [en]

    Genetic testing is becoming more commonplace in general and specialist health care and should always be accompanied by genetic counselling, according to Swedish law. Genetic counsellors are members of the multi-disciplinary team providing genetic counselling. This study examined the role and added value of genetic counsellors in Sweden, using a cross-sectional on-line survey. The findings showed that the genetic counsellors added value in the clinical setting by acting as the 'spider-in-the-web' regarding case management, having a more holistic, ethical and psychological perspective, being able to offer continuous support and build a relationship with the patient, and being more accessible than medical geneticists. The main difference between a genetic counsellor and medical geneticist was that the doctor had the main medical responsibility. Thus genetic counsellors in Sweden contribute substantially to the care of patients in the clinical genetic setting.

  • 10.
    Johansson, Joel
    et al.
    Linköping University, Department of Clinical and Experimental Medicine, Division of Neuro and Inflammation Science. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Heart and Medicine Center, Department of Gastroentorology.
    Sahin, Christofer
    Linköping University, Department of Clinical and Experimental Medicine, Division of Neuro and Inflammation Science. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Heart and Medicine Center, Department of Gastroentorology.
    Pestoff, Rebecka
    Linköping University, Department of Clinical and Experimental Medicine, Division of Cell Biology. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Center for Diagnostics, Department of Clinical Pathology and Clinical Genetics.
    Ignatova, Simone
    Linköping University, Department of Clinical and Experimental Medicine. Linköping University, Faculty of Health Sciences. Region Östergötland, Center for Diagnostics, Department of Clinical Pathology and Clinical Genetics.
    Forsberg, Pia
    Linköping University, Department of Clinical and Experimental Medicine, Division of Microbiology and Molecular Medicine. Linköping University, Faculty of Health Sciences. Region Östergötland, Heart and Medicine Center, Department of Infectious Diseases.
    Edsjö, Anders
    Sahlgrenska University Hospital Göteborg .
    Ekstedt, Mattias
    Linköping University, Department of Clinical and Experimental Medicine, Division of Neuro and Inflammation Science. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Heart and Medicine Center, Department of Gastroentorology.
    Stenmark Askmalm, Marie
    Linköping University, Department of Clinical and Experimental Medicine, Division of Clinical Sciences. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Center for Diagnostics, Department of Clinical Pathology and Clinical Genetics.
    A Novel SMAD4 Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia.2015In: Case Reports in Gastrointestinal Medicine, ISSN 2090-6528, E-ISSN 2090-6536, Vol. 2015, p. 1-5, article id 140616Article in journal (Refereed)
    Abstract [en]

    Juvenile polyposis syndrome (JPS) is a rare genetic disorder characterized by juvenile polyps of the gastrointestinal tract. We present a new pathogenic mutation of the SMAD4 gene and illustrate the need for a multidisciplinary health care approach to facilitate the correct diagnosis. The patient, a 47-year-old Caucasian woman, was diagnosed with anaemia at the age of 12. During the following 30 years, she developed numerous gastrointestinal polyps. The patient underwent several operations, and suffered chronic abdominal pain, malnutrition, and multiple infections. Screening of the SMAD4 gene revealed a novel, disease-causing mutation. In 2012, the patient suffered hypoalbuminemia and a large polyp in the small bowel was found. Gamma globulin was given but the patient responded with fever and influenza-like symptoms and refused more treatment. The patient underwent surgery in 2014 and made an uneventful recovery. At follow-up two months later albumin was 38 g/L and IgG was 6.9 g/L. Accurate diagnosis is essential for medical care. For patients with complex symptomatology, often with rare diseases, this is best provided by multidisciplinary teams including representatives from clinical genetics. Patients with a SMAD4 mutation should be followed up both for JPS and haemorrhagic hereditary telangiectasia and may develop protein loosing enteropathy and immunodeficiency.

  • 11.
    Skirton, H
    et al.
    School of Nursing and Midwifery, Faculty of Health, Education and Society, Plymouth University, Wellington Road, Taunton TA1 5YD, United Kingdom.
    Barnoy, S
    Nursing Department, School of Health Professions, Tel-Aviv University, Tel-Aviv, Israel.
    Erdem, Y
    Faculty of Health Sciences, Kirikkale University, Kirikkale, Turkey.
    Ingvoldstad, C
    Department for Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden.
    Pestoff, Rebecka
    Linköping University, Department of Clinical and Experimental Medicine. Linköping University, Faculty of Health Sciences.
    Teksen, F
    Faculty of Medicine, Ankara University, Ankara, Turkey.
    Williams, J
    Wessex Regional Genetics Centre, Southampton, United Kingdom.
    Suggested components of the curriculum for nurses and midwives to enable them to develop essential knowledge and skills in genetics2012In: Journal of Community Genetics, ISSN 1868-310X, Vol. 3, no 4, p. 323-329Article in journal (Refereed)
    Abstract [en]

    Nurses and midwives need to develop specific knowledge and skills in genetics to enable them to offer appropriate healthcare in a range of non-specialist settings. Studies on the topic indicate that while nurses acknowledged the importance of genetics knowledge to their work, both their knowledge and confidence in using such information are poor. Despite the existence of competence frameworks, it appears that educators have struggled with the need to integrate genetics into nursing and midwifery curricula. An expert workshop on genetics education was held to determine the essential components of genetics knowledge and skills that should be incorporated into the pre-registration nursing curriculum in European countries. In this paper we present the essential topics for nurse and midwife pre-registration education and suggest ways in which genetics might be incorporated into the nursing and midwifery curriculum. © Springer-Verlag 2012.

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