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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
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.ORCID iD: 0000-0001-7192-4532
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 [en]
Genetic counselling, Empowerment, Outcome measures, eHealth, Implementation
National Category
Health Care Service and Management, Health Policy and Services and Health Economy
Identifiers
URN: urn:nbn:se:liu:diva-193290DOI: 10.3384/9789179295943ISBN: 9789179295936 (print)ISBN: 9789179295943 (electronic)OAI: oai:DiVA.org:liu-193290DiVA, id: diva2:1753709
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
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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Pestoff, Rebecka A.

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