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Tesi, B., Robinson, K. L., Abel, F., Díaz de Ståhl, T., Orrsjö, S., Poluha, A., . . . Nordgren, A. (2024). Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors: a nationwide, prospective Swedish study. The Lancet Regional Health: Europe, 39, Article ID 100881.
Open this publication in new window or tab >>Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors: a nationwide, prospective Swedish study
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2024 (English)In: The Lancet Regional Health: Europe, E-ISSN 2666-7762, Vol. 39, article id 100881Article in journal (Refereed) Published
Abstract [en]

Background: Childhood cancer predisposition (ChiCaP) syndromes are increasingly recognized as contributing factors to childhood cancer development. Yet, due to variable availability of germline testing, many children with ChiCaP might go undetected today. We report results from the nationwide and prospective ChiCaP study that investigated diagnostic yield and clinical impact of integrating germline whole-genome sequencing (gWGS) with tumor sequencing and systematic phenotyping in children with solid tumors.

Methods: gWGS was performed in 309 children at diagnosis of CNS (n = 123, 40%) or extracranial (n = 186, 60%) solid tumors and analyzed for disease-causing variants in 189 known cancer predisposing genes. Tumor sequencing data were available for 74% (227/309) of patients. In addition, a standardized clinical assessment for underlying predisposition was performed in 95% (293/309) of patients.

Findings: The prevalence of ChiCaP diagnoses was 11% (35/309), of which 69% (24/35) were unknown at inclusion (diagnostic yield 8%, 24/298). A second-hit and/or relevant mutational signature was observed in 19/21 (90%) tumors with informative data. ChiCaP diagnoses were more prevalent among patients with retinoblastomas (50%, 6/12) and high-grade astrocytomas (37%, 6/16), and in those with non-cancer related features (23%, 20/88), and ≥2 positive ChiCaP criteria (28%, 22/79). ChiCaP diagnoses were autosomal dominant in 80% (28/35) of patients, yet confirmed de novo in 64% (18/28). The 35 ChiCaP findings resulted in tailored surveillance (86%, 30/35) and treatment recommendations (31%, 11/35).

Interpretation: Overall, our results demonstrate that systematic phenotyping, combined with genomics-based diagnostics of ChiCaP in children with solid tumors is feasible in large-scale clinical practice and critically guides personalized care in a sizable proportion of patients.

Funding: The study was supported by the Swedish Childhood Cancer Fund and the Ministry of Health and Social Affairs.

Place, publisher, year, edition, pages
Elsevier, 2024
Keywords
Childhood cancer predisposition, Germline variants, Somatic mutations, Whole-genome sequencing
National Category
Cancer and Oncology
Identifiers
urn:nbn:se:umu:diva-222981 (URN)10.1016/j.lanepe.2024.100881 (DOI)2-s2.0-85188909470 (Scopus ID)
Funder
Swedish Childhood Cancer Foundation
Available from: 2024-04-11 Created: 2024-04-11 Last updated: 2024-04-11Bibliographically approved
Nääs, C., von Salomé, J. & Rosén, A. (2024). Patients’ perceptions and practices of informing relatives: a qualitative study within a randomised trial on healthcare-assisted risk disclosure. European Journal of Human Genetics
Open this publication in new window or tab >>Patients’ perceptions and practices of informing relatives: a qualitative study within a randomised trial on healthcare-assisted risk disclosure
2024 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438Article in journal (Refereed) Epub ahead of print
Abstract [en]

In a multicentre randomised controlled trial (DIRECT), we evaluate whether an intervention of providing direct letters from healthcare professionals to at-risk relatives (ARRs) affects the proportion of ARRs contacting a cancer genetics clinic, compared with patient-mediated disclosure alone (control). With the aim to explore how the patients included in the trial perceived and performed risk communication with their ARRs we analysed 17 semi-structured interviews with reflexive thematic analysis. All patients described that they disclosed risk information to all close relatives themselves. No integrity-related issues were reported by patients offered the intervention, and all of them accepted direct letters to all their ARRs. Patients’ approaches to informing distant relatives were unpredictable and varied from contacting all distant ARRs, sharing the burden with the family, utilising the offer of sending direct letters, vaguely relying on others to inform, or postponing disclosure. Most patients limited their responsibility to the disclosure, although others wanted relatives to get genetic counselling or felt a need to provide additional information to the ARRs before ending their mission. We also identified confusion about the implication of test results, who needed risk information, and who was responsible for informing ARRs. These misunderstandings possibly also affected risk disclosure. This study revealed that despite accepting the direct letters to be sent to all relatives, the patients also contributed to risk disclosure in other ways. It was only in some situations to distant relatives that the healthcare-assisted letter was the only means of communication to the ARRs.

Place, publisher, year, edition, pages
Springer Nature, 2024
National Category
Public Health, Global Health, Social Medicine and Epidemiology Health Care Service and Management, Health Policy and Services and Health Economy
Identifiers
urn:nbn:se:umu:diva-221048 (URN)10.1038/s41431-024-01544-8 (DOI)001154818800001 ()38308085 (PubMedID)2-s2.0-85184185963 (Scopus ID)
Available from: 2024-02-21 Created: 2024-02-21 Last updated: 2024-02-21
Rosén, A., Krajc, M., Ehrencrona, H. & Bajalica-Lagercrantz, S. (2024). Public attitudes challenge clinical practice on genetic risk disclosure in favour of healthcare-provided direct dissemination to relatives. European Journal of Human Genetics, 32(1), 6-7
Open this publication in new window or tab >>Public attitudes challenge clinical practice on genetic risk disclosure in favour of healthcare-provided direct dissemination to relatives
2024 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 32, no 1, p. 6-7Article in journal, Editorial material (Other academic) Published
Place, publisher, year, edition, pages
Springer Nature, 2024
National Category
Medical Genetics
Identifiers
urn:nbn:se:umu:diva-212507 (URN)10.1038/s41431-023-01428-3 (DOI)001033671600001 ()37474788 (PubMedID)2-s2.0-85165253267 (Scopus ID)
Available from: 2023-08-01 Created: 2023-08-01 Last updated: 2024-01-12Bibliographically approved
Öfverholm, A., Karlsson, P. & Rosén, A. (2024). The experience of receiving a letter from a cancer genetics clinic about risk for hereditary cancer. European Journal of Human Genetics
Open this publication in new window or tab >>The experience of receiving a letter from a cancer genetics clinic about risk for hereditary cancer
2024 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438Article in journal (Refereed) Epub ahead of print
Abstract [en]

Direct contact may be an option for supporting disclosure in families with hereditary cancer risk. In this qualitative interview study, we explored how healthy at-risk relatives experience receiving a letter with information about hereditary cancer directly from healthcare rather than via a relative. The study is part of an ongoing multicentre randomised clinical trial in Sweden that evaluates the effectiveness of direct letters from cancer genetics clinics to at-risk relatives. After conducting semi-structured interviews with 14 relatives who had received a letter and contacted the clinic, we analysed the data using thematic analysis. The relatives had different levels of prior knowledge about the hereditary cancer assessment. Many had been notified by family that a letter was coming but some had not. Overall, these participants believed healthcare-mediated disclosure could complement family-mediated disclosure. They expressed that the letter and the message raised concerns and a need for counselling, and they wanted healthcare to be accessible and informed when making contact. The participants found the message easier to cope with when they had been notified by a family member beforehand, with a general attitude that notifying relatives was the appropriate step to take. They thought healthcare should help patients with the disclosure process but also guard the right of at-risk relatives to be informed. The findings support a direct approach from healthcare as a possible complement to an established model of family-mediated risk disclosure, but implementation must be made within existing frameworks of good practice for genetic counselling.

Place, publisher, year, edition, pages
Springer Nature, 2024
National Category
Medical Genetics
Identifiers
urn:nbn:se:umu:diva-221546 (URN)10.1038/s41431-024-01551-9 (DOI)001161377400002 ()38355958 (PubMedID)2-s2.0-85185123705 (Scopus ID)
Funder
Forte, Swedish Research Council for Health, Working Life and Welfare, 2018-00964Swedish Research Council, 2022-02226
Available from: 2024-03-13 Created: 2024-03-13 Last updated: 2024-03-13
Hawranek, C., Ehrencrona, H., Öfverholm, A., Numan Hellquist, B. & Rosén, A. (2023). Direct letters to relatives at risk of hereditary cancer: study protocol for a multi-center randomized controlled trial of healthcare-assisted versus family-mediated risk disclosure at Swedish cancer genetics clinics (DIRECT-study). Trials, 24(1), Article ID 810.
Open this publication in new window or tab >>Direct letters to relatives at risk of hereditary cancer: study protocol for a multi-center randomized controlled trial of healthcare-assisted versus family-mediated risk disclosure at Swedish cancer genetics clinics (DIRECT-study)
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2023 (English)In: Trials, E-ISSN 1745-6215, Vol. 24, no 1, article id 810Article in journal (Refereed) Published
Abstract [en]

Background: The results of germline genetic testing for hereditary cancer are of importance not only to the patients under investigation but also to their genetic at-risk relatives. Standard care is to encourage the proband (first family member under investigation) to pass on this risk information to the relatives. Previous research suggests that with family-mediated disclosure, only about a third of at-risk relatives contact health care to receive genetic counselling. In some studies, complementing family-mediated risk disclosure with healthcare-assisted risk disclosure almost doubles the uptake of genetic counselling in at-risk relatives. In this study, we evaluate healthcare-assisted direct letters to relatives at risk of hereditary cancer syndromes in a randomized controlled trial.

Methods: Probands are recruited from Swedish outpatient cancer genetics clinics to this two-arm randomized controlled trial. The study recruits probands with either a pathogenic variant in a cancer susceptibility gene (BRCA1, BRCA2, PALB2, MLH1, MSH2, MSH6, PMS2) or probands with familial breast and colorectal cancer based on clinical and pedigree criteria. In both arms, probands receive standard care, i.e., are encouraged and supported to pass on information to relatives. In the intervention arm, the proband is also offered to have direct letters sent to the at-risk relatives. The primary outcome measure is the proportion of at-risk relatives contacting a Swedish cancer genetics clinic within 12 months of the proband receiving the test results.

Discussion: This paper describes the protocol of a randomized controlled clinical trial evaluating a healthcare-assisted approach to risk disclosure by offering the probands to send direct letters to their at-risk relatives. The results of this study should be informative in the future development of risk disclosure practices in cancer genetics clinics.

Trial registration: ClinicalTrials.gov. Identifier NCT04197856 (pre-trial registration on December 13, 2019). Also registered at the website “RCC Cancerstudier i Sverige” as study #86719.

Place, publisher, year, edition, pages
BioMed Central (BMC), 2023
Keywords
Cancer prevention, Genetic testing, Hereditary breast and ovarian cancer, Lynch syndrome, Randomized controlled trial, Risk disclosure
National Category
Medical Genetics
Identifiers
urn:nbn:se:umu:diva-218687 (URN)10.1186/s13063-023-07829-5 (DOI)2-s2.0-85164416216 (Scopus ID)
Funder
Swedish Research Council, 2022-02226Forte, Swedish Research Council for Health, Working Life and Welfare, 2018-00964
Available from: 2023-12-27 Created: 2023-12-27 Last updated: 2024-01-17Bibliographically approved
Öfverholm, A., Törngren, T., Rosén, A., Arver, B., Einbeigi, Z., Haraldsson, K., . . . Ehrencrona, H. (2023). Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer. BMC Cancer, 23(1), Article ID 738.
Open this publication in new window or tab >>Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer
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2023 (English)In: BMC Cancer, ISSN 1471-2407, E-ISSN 1471-2407, Vol. 23, no 1, article id 738Article in journal (Refereed) Published
Abstract [en]

BACKGROUND: Genetic screening for pathogenic variants (PVs) in cancer predisposition genes can affect treatment strategies, risk prediction and preventive measures for patients and families. For decades, hereditary breast and ovarian cancer (HBOC) has been attributed to PVs in the genes BRCA1 and BRCA2, and more recently other rare alleles have been firmly established as associated with a high or moderate increased risk of developing breast and/or ovarian cancer. Here, we assess the genetic variation and tumor characteristics in a large cohort of women with suspected HBOC in a clinical oncogenetic setting.

METHODS: Women with suspected HBOC referred from all oncogenetic clinics in Sweden over a six-year inclusion period were screened for PVs in 13 clinically relevant genes. The genetic outcome was compared with tumor characteristics and other clinical data collected from national cancer registries and hospital records.

RESULTS: In 4622 women with breast and/or ovarian cancer the overall diagnostic yield (the proportion of women carrying at least one PV) was 16.6%. BRCA1/2 PVs were found in 8.9% of women (BRCA1 5.95% and BRCA2 2.94%) and PVs in the other breast and ovarian cancer predisposition genes in 8.2%: ATM (1.58%), BARD1 (0.45%), BRIP1 (0.43%), CDH1 (0.11%), CHEK2 (3.46%), PALB2 (0.84%), PTEN (0.02%), RAD51C (0.54%), RAD51D (0.15%), STK11 (0) and TP53 (0.56%). Thus, inclusion of the 11 genes in addition to BRCA1/2 increased diagnostic yield by 7.7%. The yield was, as expected, significantly higher in certain subgroups such as younger patients, medullary breast cancer, higher Nottingham Histologic Grade, ER-negative breast cancer, triple-negative breast cancer and high grade serous ovarian cancer. Age and tumor subtype distributions differed substantially depending on genetic finding.

CONCLUSIONS: This study contributes to understanding the clinical and genetic landscape of breast and ovarian cancer susceptibility. Extending clinical genetic screening from BRCA1 and BRCA2 to 13 established cancer predisposition genes almost doubles the diagnostic yield, which has implications for genetic counseling and clinical guidelines. The very low yield in the syndrome genes CDH1, PTEN and STK11 questions the usefulness of including these genes on routine gene panels.

Place, publisher, year, edition, pages
BioMed Central (BMC), 2023
Keywords
BRCA1, BRCA2, Breast cancer, Cancer, Genetic testing, Hereditary breast cancer, Hereditary cancer, Hereditary ovarian cancer, Ovarian cancer
National Category
Cancer and Oncology
Identifiers
urn:nbn:se:umu:diva-213067 (URN)10.1186/s12885-023-11229-y (DOI)37563628 (PubMedID)2-s2.0-85167704638 (Scopus ID)
Funder
Swedish Cancer Society, 2011/323Swedish Cancer Society, 2012/509Mrs. Berta Kamprad's Cancer FoundationRegion SkåneRegion Stockholm, FoUI-961732Region Stockholm, SLL 500306
Available from: 2023-08-24 Created: 2023-08-24 Last updated: 2023-08-24Bibliographically approved
Hawranek, C., Maxon, J., Andersson, A., van Guelpen, B., Hajdarevic, S., Numan Hellquist, B. & Rosén, A. (2022). Cancer worry distribution and willingness to undergo colonoscopy at three levels of hypothetical cancer risk - a population-based survey in Sweden. Cancers, 14(4), Article ID 918.
Open this publication in new window or tab >>Cancer worry distribution and willingness to undergo colonoscopy at three levels of hypothetical cancer risk - a population-based survey in Sweden
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2022 (English)In: Cancers, ISSN 2072-6694, Vol. 14, no 4, article id 918Article in journal (Refereed) Published
Abstract [en]

Purpose: We describe levels of cancer worry in the general population as measured with the Cancer Worry Scale (CWS) and investigate the association with colonoscopy screening intentions in three colorectal cancer risk scenarios. 

Methods: The data were sourced through a population-based survey. Respondents (n = 943) completed an eight-item CWS and questions on colonoscopy screening interest at three hypothetical risk levels. 

Results: Respondents without a personal cancer history (n = 853) scored 9.46 on the six-item CWS (mean, SD 2.72). Mean scores were significantly higher in women (9.91, SD 2.89) as compared to men (9.06, SD 2.49, p < 0.001). Linear regression showed higher cancer worry in women and those with children when controlling for education, age group, and country of birth. High cancer worry (six-item CWS mean >12) was identified in 25% of women and in 17% of men. Among those, 71% would attend a colonoscopy screening compared to 52% of those with low cancer worry (p < 0.001, 5% CRC-risk). 

Conclusions: The distribution of cancer worry in a general population sample showed higher mean scores in women, and levels overlapped with earlier findings in cancer-affected samples. Respondents with high cancer worry were more inclined to undergo a colonoscopy screening, and intention increased with higher levels of hypothetical risk.

Place, publisher, year, edition, pages
MDPI, 2022
Keywords
cancer, oncology, cancer worry, cancer worry scale, colonoscopy, colorectal cancer, early detection of cancer, patient reported outcome measures
National Category
Nursing
Identifiers
urn:nbn:se:umu:diva-192473 (URN)10.3390/cancers14040918 (DOI)000766443100001 ()35205668 (PubMedID)2-s2.0-85124360606 (Scopus ID)
Funder
Forte, Swedish Research Council for Health, Working Life and Welfare, 2018-00964
Available from: 2022-02-14 Created: 2022-02-14 Last updated: 2023-03-24Bibliographically approved
Rosén, A., Otten, J., Stomby, A., Vallin, S., Wennberg, P. & Brunström, M. (2022). Oral glucose tolerance testing as a complement to fasting plasma glucose in screening for type 2 diabetes: population-based cross-sectional analyses of 146 000 health examinations in Västerbotten, Sweden. BMJ Open, 12(6), Article ID e062172.
Open this publication in new window or tab >>Oral glucose tolerance testing as a complement to fasting plasma glucose in screening for type 2 diabetes: population-based cross-sectional analyses of 146 000 health examinations in Västerbotten, Sweden
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2022 (English)In: BMJ Open, E-ISSN 2044-6055, Vol. 12, no 6, article id e062172Article in journal (Refereed) Published
Abstract [en]

OBJECTIVE: To assess the effect of adding an oral glucose tolerance test (OGTT) to fasting plasma glucose (FPG) in terms of detection of type 2 diabetes (T2D) and impaired glucose tolerance (IGT).

DESIGN: Retrospective analysis of serial cross-sectional screening study. SETTING: Population-based health examinations within primary care in Västerbotten County, Sweden.

PARTICIPANTS: Individuals aged 40- 50 and 60 years with participation from 1985 to 2017. Those with previously diagnosed diabetes and FPG≥7 mmol/L were excluded.

PRIMARY AND SECONDARY OUTCOME MEASURES: Prevalence of hyperglycaemia on the OGTT (IGT and T2D defined as 2-hour postload capillary plasma glucose of 8.9-12.1 mmol/L and ≥12.2 mmol/L, respectively). Analyses were further stratified by age, sex and risk factor burden to identify groups at high or low risk of IGT and T2D on testing. The numbers needed to screen (NNS) to prevent one case of T2D through detection and treatment of IGT was estimated, combining prevalence numbers with average progression rates and intervention effects from previous meta-analyses.

RESULTS: The prevalence of IGT ranged from 0.9% (95% CI 0.7% to 1.1%) to 29.6% (95% CI 27.4% to 31.7%), and the prevalence of T2D ranged from 0.06% (95% CI 0.02% to 0.11%) to 7.0% (95% CI 5.9% to 8.3%), depending strongly on age, sex and risk factor burden. The estimated NNS to prevent one case of T2D through detection and lifestyle treatment of IGT ranged from 1332 among 40-year-old men without risk factors, to 39 among 60-year-old women with all risk factors combined.

CONCLUSIONS: The prevalence of hyperglycaemia on OGTT is highly dependent on age, sex and risk factor burden; OGTT should be applied selectively to high-risk groups to avoid unnecessary testing in the general population.

Place, publisher, year, edition, pages
BMJ Publishing Group Ltd, 2022
Keywords
impaired glucose tolerance, non-diabetic hyperglycemia, oral glucose tolerance test, prediabetes, screening, type 2 diabetes
National Category
Endocrinology and Diabetes
Identifiers
urn:nbn:se:umu:diva-196821 (URN)10.1136/bmjopen-2022-062172 (DOI)000810036900028 ()35676014 (PubMedID)2-s2.0-85131654381 (Scopus ID)
Available from: 2022-06-20 Created: 2022-06-20 Last updated: 2023-09-05Bibliographically approved
Omran, M., Tham, E., Brandberg, Y., Ahlström, H., Lundgren, C., Paulsson-Karlsson, Y., . . . Blomqvist, L. (2022). Whole-Body MRI Surveillance: Baseline Findings in the Swedish Multicentre Hereditary TP53-Related Cancer Syndrome Study (SWEP53). Cancers, 14(2), Article ID 380.
Open this publication in new window or tab >>Whole-Body MRI Surveillance: Baseline Findings in the Swedish Multicentre Hereditary TP53-Related Cancer Syndrome Study (SWEP53)
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2022 (English)In: Cancers, ISSN 2072-6694, Vol. 14, no 2, article id 380Article in journal (Refereed) Published
Abstract [en]

A surveillance strategy of the heritable TP53-related cancer syndrome (hTP53rc), commonly referred to as the Li–Fraumeni syndrome (LFS), is studied in a prospective observational nationwide multi-centre study in Sweden (SWEP53). The aim of this sub-study is to evaluate whole-body MRI (WB-MRI) regarding the rate of malignant, indeterminate, and benign imaging findings and the associated further workup generated by the baseline examination. Individuals with hTP53rc were enrolled in a surveillance program including annual whole-body MRI (WB-MRI), brain-MRI, and in female carriers, dedicated breast MRI. A total of 68 adults ≥18 years old have been enrolled to date. Of these, 61 fulfilled the inclusion criteria for the baseline MRI scan. In total, 42 showed a normal scan, while 19 (31%) needed further workup, of whom three individuals (3/19 = 16%) were diagnosed with asymptomatic malignant tumours (thyroid cancer, disseminated upper GI cancer, and liver metastasis from a previous breast cancer). Forty-three participants were women, of whom 21 had performed risk-reducing mastectomy prior to inclusion. The remaining were monitored with breast MRI, and no breast tumours were detected on baseline MRI. WB-MRI has the potential to identify asymptomatic tumours in individuals with hTP53rc syndrome. The challenge is to adequately and efficiently investigate all indeterminate findings. Thus, a multidisciplinary team should be considered in surveillance programs for individuals with hTP53rc syndrome.

Place, publisher, year, edition, pages
MDPI, 2022
Keywords
Cancer, Cancer prevention, Clinically actionable TP53 variant, Germline TP53, Hereditary breast cancer, Hereditary cancer syndrome, HTP53rc syndrome, Li–Fraumeni, MRI screening, Surveillance program, Whole-body MRI
National Category
Cancer and Oncology Radiology, Nuclear Medicine and Medical Imaging
Identifiers
urn:nbn:se:umu:diva-191742 (URN)10.3390/cancers14020380 (DOI)000758542200001 ()35053544 (PubMedID)2-s2.0-85122885429 (Scopus ID)
Funder
King Gustaf V Jubilee Fund, 201052Region Stockholm, SLL20180046Region Stockholm, SLL500306Swedish Cancer Society, 2016/775Swedish Childhood Cancer Foundation, TJ2018-0054Swedish Childhood Cancer Foundation, TJ2021- 0125
Available from: 2022-01-24 Created: 2022-01-24 Last updated: 2023-05-04Bibliographically approved
Hawranek, C., Hajdarevic, S. & Rosén, A. (2021). A focus group study of perceptions of genetic risk disclosure in members of the public in sweden: "I’ll phone the five closest ones, but what happens to the other ten?". Journal of Personalized Medicine, 11(11), Article ID 1191.
Open this publication in new window or tab >>A focus group study of perceptions of genetic risk disclosure in members of the public in sweden: "I’ll phone the five closest ones, but what happens to the other ten?"
2021 (English)In: Journal of Personalized Medicine, E-ISSN 2075-4426, Vol. 11, no 11, article id 1191Article in journal (Refereed) Published
Abstract [en]

This study explores perceptions and preferences on receiving genetic risk informationabout hereditary cancer risk in members of the Swedish public. We conducted qualitative contentanalysis of five focus group discussions with participants (n = 18) aged between 24 and 71 years,recruited from various social contexts. Two prominent phenomena surfaced around the interplaybetween the three stakeholders involved in risk disclosure: the individual, healthcare, and therelative at risk. First, there is a genuine will to share risk information that can benefit others, evenif this is difficult and causes discomfort. Second, when the duty to inform becomes overwhelming,compromises are made, such as limiting one’s own responsibility of disclosure or projecting the mainresponsibility onto another party. In conclusion, our results reveal a discrepancy between publicexpectations and the actual services offered by clinical genetics. These expectations paired with desirefor a more personalized process and shared decision-making highlight a missing link in today’s riskcommunication and suggest a need for developed clinical routines with stronger healthcare–patientcollaboration. Future research needs to investigate the views of genetic professionals on how toaddress these expectations to co-create a transparent risk disclosure process which can realize the fullpotential of personalized prevention.

Place, publisher, year, edition, pages
MDPI, 2021
Keywords
Medicine (miscellaneous)
National Category
Nursing
Identifiers
urn:nbn:se:umu:diva-189636 (URN)10.3390/jpm11111191 (DOI)000727280400001 ()34834542 (PubMedID)2-s2.0-85119663801 (Scopus ID)
Funder
Forte, Swedish Research Council for Health, Working Life and Welfare
Available from: 2021-11-17 Created: 2021-11-17 Last updated: 2023-03-24Bibliographically approved
Projects
Direct Information to at-risk Relatives ? A randomized Controlled Trial on direct versus family-mediated information on cancer risk and prevention (DIRECT-study) [2018-00964_Forte]; Umeå University
Organisations
Identifiers
ORCID iD: ORCID iD iconorcid.org/0000-0003-2441-2395

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