| 1. |
- Ekman, Björn, et al.
(författare)
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Skala upp den befintliga digitala vården i Sverige
- 2020
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Ingår i: Dagens Medicin. - Stockholm : Bonnier. - 1104-7488.
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Tidskriftsartikel (populärvet., debatt m.m.)abstract
- Ge Socialstyrelsen ett nationellt uppdrag att beställa och ersätta vårdgivare av digital vård, föreslår en grupp forskare med anledning av covid-19.
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| 2. |
- Johansson, Joel, et al.
(författare)
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A Novel SMAD4 Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia.
- 2015
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Ingår i: Case Reports in Gastrointestinal Medicine. - : Hindawi Limited. - 2090-6528 .- 2090-6536. ; 2015, s. 1-5
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Tidskriftsartikel (refereegranskat)abstract
- 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.
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| 3. |
- Paneque, Milena, et al.
(författare)
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Complementarity between medical geneticists and genetic counsellors: its added value in genetic services in Europe
- 2017
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Ingår i: European Journal of Human Genetics. - : NATURE PUBLISHING GROUP. - 1018-4813 .- 1476-5438. ; 25:8, s. 918-923
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Tidskriftsartikel (refereegranskat)abstract
- 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.
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| 4. |
- Pestoff, Rebecka A., 1978-
(författare)
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Improving Access and Quality of Genetic Counselling in Clinical Care in Sweden : The Value of eHealth Solutions and a Validated Outcome Measure
- 2023
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- 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.
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| 5. |
- Pestoff, Rebecka, 1978-, et al.
(författare)
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Developing a national certification pathway for genetic counselors in Sweden : a short report
- 2020
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Ingår i: Journal of Community Genetics. - : SPRINGER HEIDELBERG. - 1868-310X .- 1868-6001. ; 11:1, s. 113-117
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Tidskriftsartikel (refereegranskat)abstract
- There is no Master's 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.
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| 6. |
- Pestoff, Rebecka, et al.
(författare)
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Factors influencing use of telegenetic counseling: perceptions of health care professionals in Sweden
- 2019
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Ingår i: Journal of Community Genetics. - : SPRINGER HEIDELBERG. - 1868-310X .- 1868-6001. ; 10:3, s. 407-415
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Tidskriftsartikel (refereegranskat)abstract
- 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.
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| 7. |
- Pestoff, Rebecka, et al.
(författare)
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Genetic counsellors in Sweden : their role and added value in the clinical setting.
- 2016
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Ingår i: European Journal of Human Genetics. - : Nature Publishing Group. - 1018-4813 .- 1476-5438. ; 24:3, s. 350-355
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Tidskriftsartikel (refereegranskat)abstract
- 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.
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| 8. |
- Pestoff, Rebecka, et al.
(författare)
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How practical experiences, educational routes and multidisciplinary teams influence genetic counselors' clinical practice in Europe
- 2018
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Ingår i: Clinical Genetics. - : WILEY. - 0009-9163 .- 1399-0004. ; 93:4, s. 891-898
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Tidskriftsartikel (refereegranskat)abstract
- 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 counselor's 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.
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| 9. |
- Pestoff, Rebecka, 1978-, et al.
(författare)
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Rapid Implementation of Telegenetic Counseling in the COVID-19 and Swedish Healthcare Context : A Feasibility Study
- 2022
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Ingår i: Frontiers in Health Services. - : Frontiers Media S.A.. - 2813-0146. ; 2
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Tidskriftsartikel (refereegranskat)abstract
- 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.
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| 10. |
- Pestoff, Rebecka, 1978-
(författare)
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Recension: Efterlängtat om genetisk vägledning
- 2022
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Ingår i: Läkartidningen. - 0023-7205 .- 1652-7518.
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Recension (populärvet., debatt m.m.)abstract
- 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.
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