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Pestoff, R. A. (2023). Improving Access and Quality of Genetic Counselling in Clinical Care in Sweden: The Value of eHealth Solutions and a Validated Outcome Measure. (Doctoral dissertation). Linköping: Linköping University Electronic Press
Open this publication in new window or tab >>Improving Access and Quality of Genetic Counselling in Clinical Care in Sweden: The Value of eHealth Solutions and a Validated Outcome Measure
2023 (English)Doctoral 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.

Abstract [sv]

Klinisk genetik utreder personer för olika ärftliga sjukdomar. Genetisk vägledning är en viktig del i denna process. Genetisk vägledning innebär information och stöd till personer under utredning, för att hjälpa dem förstå och fatta beslut om olika saker, t.ex. genetisk testning. Genetisk vägledning sker främst genom samtal som ska vara anpassade till personens behov och målet är att stärka personen i sin egen situation.

Efterfrågan på genetisk vägledning är högre än tillgången, och det råder brist på utbildade genetiska vägledare i Sverige. Ett alternativ för att nå fler personer i behov av genetisk vägledning kan vara att erbjuda samtalen med hjälp av eHälsa. Besöken genomförs digitalt på distans via video eller telefon. Behovet av detta blev särskilt påtagligt under COVID-19-pandemin. Sveriges befolkning är vana vid internet och använder redan många tekniska lösningar i vardagen. Men forskning har tidigare visat att det är svårt att införa nya lösningar i sjukvården, inklusive genetisk vägledning på distans. Det är också viktigt att kunna mäta kvaliteten på vården, inklusive genetisk vägledning, för att veta om effekterna är bra. Det är dock svårt eftersom det saknas mått för detta på svenska. Den här forskningen undersökte därför hur tillgång och kvalitet på genetisk vägledning i Sverige kunde förbättras. Det gjordes bl.a. genom att studera de genetiska vägledarna, användning och införandet av eHälsa i Sverige, och utveckla en enkät på svenska för utvärdering av genetisk vägledning.

I den första studien fann vi att genetiska vägledare i Sverige ökade tillgängligheten för patienter. Men detta kunde bli ännu bättre, då de genetiska vägledarna var överbelastade med administrativa uppgifter och önskade mer tid för patientkontakt. I den andra studien intervjuades vårdpersonal, som visade sig vara både positiva och tveksamma till att använda distansbesök istället för att ses fysiskt. Vårdpersonalen önskade först att det fanns bevis och resurser på plats för att distansbesöken skulle fungera. Sedan kom COVID, och distansbesök infördes snabbt på kliniken. Utvärderingen visade gott resultat för distansbesöken under COVID-pandemin. Deltagande patienter och vårdgivare upplevde att besöken på distans behövdes och att de var nöjda med dem. Samtidigt togs en enkät fram på svenska för att mäta effekterna av den genetiska vägledningen hos patienter. Den kallas GCOS-24swe, och har visat god kvalitet. Utvärderingar med GCOS-24swe har visat på god effekt av distansbesöken för genetisk vägledning. Sammanfattningsvis visade resultaten från studierna att det går att förbättra tillgången till och säkerställa kvaliteten på genetisk vägledning i Sverige.

Place, publisher, year, edition, pages
Linköping: Linköping University Electronic Press, 2023. p. 97
Series
Linköping University Medical Dissertations, ISSN 0345-0082 ; 1834
Keywords
Genetic counselling, Empowerment, Outcome measures, eHealth, Implementation
National Category
Health Care Service and Management, Health Policy and Services and Health Economy
Identifiers
urn:nbn:se:liu:diva-193290 (URN)10.3384/9789179295943 (DOI)9789179295936 (ISBN)9789179295943 (ISBN)
Public defence
2023-06-01, Berzeliussalen, Building 463, Campus US, Linköping, 13:00
Opponent
Supervisors
Note

Funding agencies: Region Östergötland (Strategy area: Healthcare and welfare, Centre for Diagnostics, Department of Clinical Genetics, Centre for Rare Diseases, Southeast), FORSS, Linköping University (Faculty of Medicine and Health Sciences, Department of Health, Medicine and Caring Sciences)

Available from: 2023-04-28 Created: 2023-04-28 Last updated: 2023-05-05Bibliographically approved
Pestoff, R., Johansson, P., Danielsson, H., Neher, M. & Gunnarsson, C. (2022). Rapid Implementation of Telegenetic Counseling in the COVID-19 and Swedish Healthcare Context: A Feasibility Study. Frontiers in Health Services, 2
Open this publication in new window or tab >>Rapid Implementation of Telegenetic Counseling in the COVID-19 and Swedish Healthcare Context: A Feasibility Study
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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
Pestoff, R. (2022). Recension: Efterlängtat om genetisk vägledning [Review]. Läkartidningen
Open this publication in new window or tab >>Recension: Efterlängtat om genetisk vägledning
2022 (Swedish)In: Läkartidningen, ISSN 0023-7205, E-ISSN 1652-7518Article, book review (Other (popular science, discussion, etc.)) Published
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. 

Keywords
genetisk vägledning
National Category
Genetics
Identifiers
urn:nbn:se:liu:diva-189245 (URN)
Available from: 2022-10-14 Created: 2022-10-14 Last updated: 2022-10-14
Pestoff, R., Svensson, K., Paneque, M. & Malmgren, C. I. (2020). Developing a national certification pathway for genetic counselors in Sweden-a short report. Journal of Community Genetics, 11(1), 113-117
Open this publication in new window or tab >>Developing a national certification pathway for genetic counselors in Sweden-a short report
2020 (English)In: Journal of Community Genetics, ISSN 1868-310X, E-ISSN 1868-6001, Vol. 11, no 1, p. 113-117Article in journal (Refereed) Published
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.

Place, publisher, year, edition, pages
Springer, 2020
Keywords
Education; Genetic counseling; Patient safety; Quality care; Training
National Category
Medical Genetics
Identifiers
urn:nbn:se:liu:diva-164817 (URN)10.1007/s12687-019-00426-7 (DOI)31154609 (PubMedID)
Available from: 2020-03-28 Created: 2020-03-28 Last updated: 2021-04-25Bibliographically approved
Pestoff, R., Ingvoldstad, C. & Skirton, H. (2016). Genetic counsellors in Sweden: their role and added value in the clinical setting.. European Journal of Human Genetics, 24(3), 350-355
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
Johansson, J., Sahin, C., Pestoff, R., Ignatova, S., Forsberg, P., Edsjö, A., . . . Stenmark Askmalm, M. (2015). A Novel SMAD4 Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia.. Case Reports in Gastrointestinal Medicine, 2015, 1-5, Article ID 140616.
Open this publication in new window or tab >>A Novel SMAD4 Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia.
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2015 (English)In: Case Reports in Gastrointestinal Medicine, ISSN 2090-6528, E-ISSN 2090-6536, Vol. 2015, p. 1-5, article id 140616Article in journal (Refereed) Published
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.

National Category
Gastroenterology and Hepatology
Identifiers
urn:nbn:se:liu:diva-115933 (URN)10.1155/2015/140616 (DOI)25705527 (PubMedID)
Available from: 2015-03-24 Created: 2015-03-24 Last updated: 2020-08-14
Skirton, H., Barnoy, S., Erdem, Y., Ingvoldstad, C., Pestoff, R., Teksen, F. & Williams, J. (2012). Suggested components of the curriculum for nurses and midwives to enable them to develop essential knowledge and skills in genetics. Journal of Community Genetics, 3(4), 323-329
Open this publication in new window or tab >>Suggested components of the curriculum for nurses and midwives to enable them to develop essential knowledge and skills in genetics
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2012 (English)In: Journal of Community Genetics, ISSN 1868-310X, Vol. 3, no 4, p. 323-329Article in journal (Refereed) Published
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.

Place, publisher, year, edition, pages
Springer Verlag (Germany), 2012
National Category
Medical and Health Sciences
Identifiers
urn:nbn:se:liu:diva-87772 (URN)10.1007/s12687-012-0098-9 (DOI)
Available from: 2013-01-24 Created: 2013-01-23 Last updated: 2013-01-24
Organisations
Identifiers
ORCID iD: ORCID iD iconorcid.org/0000-0001-7192-4532

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