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Article ; Online: Malignant hyperthermia safety - A nationwide survey of publicly funded Swedish healthcare.

Hellblom, Anna / Miller, William Pettersson / Soller, Maria / Samuelsson, Carolina

2024

Abstract: Background: Malignant hyperthermia (MH) is a rare pharmacogenetic disorder that can lead to a life-threatening reaction during general anaesthesia with triggering agents. Prompt life-saving treatment includes the immediate administration of the antidote ...

Abstract	Background: Malignant hyperthermia (MH) is a rare pharmacogenetic disorder that can lead to a life-threatening reaction during general anaesthesia with triggering agents. Prompt life-saving treatment includes the immediate administration of the antidote dantrolene. This study investigated Swedish healthcare providers' awareness and adherence to guidelines and recommendations with respect to MH and whether adherence to safe MH-praxis varies with hospital care-complexity level and private versus public management form. Method: Agreements and procurement specifications between all 21 Swedish County Councils and privately run surgical care providers were reviewed alongside with questionnaire-aided collection of information from 62 publicly funded health care providers (both privately and publicly run). Results: No procurement requirement specification or contract contained requirements on anaesthesia or aspects of MH. All publicly run hospitals stocked dantrolene and 28 out of 52 (54%) stocked the recommended amount. Seven out of nine (78%) of the privately run institutions stocked dantrolene, and one stocked the recommended amount. Publicly run hospitals adhered to recommendations to a greater extent than privately run institutions, both with respect to stocking of dantrolene (p = .02) and to stocking the recommended amount (p = .03). Conclusions: Contracts between Swedish county councils and private surgical care subcontractors rarely outline expectations of standards for the safe practice of anaesthesia such as preparedness to handle a life-threatening MH reaction. Among Swedish publicly funded anaesthesia providers there is room for improvement in adherence to the EMHG guideline on dantrolene availability. Publicly run hospitals seem to have better compliance with these recommendations than privately run institutions. Raising awareness about current guidelines is important to improve safety for known and unknown MH-susceptible individuals.
Language	English
Publishing date	2024-04-02
Publishing country	England
Document type	Journal Article
ZDB-ID	80002-8
ISSN	1399-6576 ; 0001-5172
ISSN (online)	1399-6576
ISSN	0001-5172
DOI	10.1111/aas.14417
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Book ; Thesis: Cytogenetic studies of lung tumors

Johansson Soller, Maria

1994

Author's details	av Maria Johansson Soller
Language	English
Size	Getr. Zählung : Ill., graph. Darst.
Publishing country	Sweden
Document type	Book ; Thesis
Thesis / German Habilitation thesis	Lund, Univ., Diss., 1994
HBZ-ID	HT006400026
ISBN	91-628-1364-1 ; 978-91-628-1364-2
Database	Catalogue ZB MED Medicine, Health

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Article ; Online: The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders.

Runheim, Hannes / Pettersson, Maria / Hammarsjö, Anna / Nordgren, Ann / Henriksson, Martin / Lindstrand, Anna / Levin, Lars-Åke / Soller, Maria Johansson

Scientific reports

2023 Volume 13, Issue 1, Page(s) 6904

Abstract: Whole genome sequencing (WGS) has the potential to be a comprehensive genetic test, especially relevant for individuals with neurodevelopmental disorders, syndromes and congenital malformations. However, the cost consequences of using whole genome ... ...

Abstract	Whole genome sequencing (WGS) has the potential to be a comprehensive genetic test, especially relevant for individuals with neurodevelopmental disorders, syndromes and congenital malformations. However, the cost consequences of using whole genome sequencing as a first-line genetic test for these individuals are not well understood. The study objective was to compare the healthcare costs and diagnostic yield when WGS is performed as the first-line test instead of chromosomal microarray analysis (CMA). Two cohorts were analyzed retrospectively using register data, cohort CMA (418 patients referred for CMA at the department of Clinical Genetics, Karolinska University Hospital, during 2015) and cohort WGS (89 patients included in a WGS-first prospective study in 2017). The analysis compared healthcare consumption over a 2-year period after referral for genetic testing, the diagnostic yield over a 2- and 3-year period after referral was also compiled. The mean healthcare cost per patient in cohort WGS was $2,339 lower compared to cohort CMA ($ - 2339, 95% CI - 12,238-7561; P = 0.64) including higher costs for genetic investigations ($1065, 95% CI 834-1295; P < 0.001) and lower costs for outpatient care ($ - 2330, 95% CI - 3992 to (- 669); P = 0.006). The diagnostic yield was 23% higher for cohort WGS (cohort CMA 20.1%, cohort WGS 24.7%) (0.046, 95% CI - 0.053-0.145; P = 0.36). WGS as a first-line diagnostic test for individuals with neurodevelopmental disorders is associated with statistically non-significant lower costs and higher diagnostic yield compared with CMA. This indicates that prioritizing WGS over CMA in health care decision making will yield positive expected outcomes as well as showing a need for further research.
MeSH term(s)	Humans ; Prospective Studies ; Retrospective Studies ; Cost-Benefit Analysis ; Whole Genome Sequencing ; Neurodevelopmental Disorders/diagnosis ; Neurodevelopmental Disorders/genetics
Language	English
Publishing date	2023-04-27
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-023-33787-8
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Article ; Online: Helgenomanalys vid sällsynta diagnoser ger stor patientnytta.

Johansson Soller, Maria / Nordgren, Ann / Ehrencrona, Hans / Lovmar, Lovisa / Wedell, Anna / Lindstrand, Anna

Lakartidningen

2021 Volume 118

Abstract: If a disease affects fewer than 1 in 2 000, the European Union defines it as a rare disease. Globally, about 300 million people live with a rare disease, and in Sweden about 400 000. There are approximately 7 000 different rare diseases. The clinical ... ...

Title translation	The utility of whole genome sequencing in rare disease diagnostics.
Abstract	If a disease affects fewer than 1 in 2 000, the European Union defines it as a rare disease. Globally, about 300 million people live with a rare disease, and in Sweden about 400 000. There are approximately 7 000 different rare diseases. The clinical picture varies from a single symptom to complex patterns with multiple organs affected, often combined with cognitive and motor impairment. At least 72 % of all rare diseases are genetic and 70% have childhood onset. Many patients are undiagnosed and do not receive optimal treatment. Today, only 5% of rare diseases have an approved treatment option. With modern genetic high throughput techniques, many disease-causing mutations are identified, increasing the possibility of personalized treatment and prevention strategies, designed by the individual's genetic conditions, i.e. precision medicine.
MeSH term(s)	Humans ; Precision Medicine ; Rare Diseases/diagnosis ; Rare Diseases/genetics ; Sweden ; Whole Genome Sequencing
Language	Swedish
Publishing date	2021-05-10
Publishing country	Sweden
Document type	Journal Article
ZDB-ID	391010-6
ISSN	1652-7518 ; 0023-7205
ISSN (online)	1652-7518
ISSN	0023-7205
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Article ; Online: Assessing women's preferences towards tests that may reveal uncertain results from prenatal genomic testing: Development of attributes for a discrete choice experiment, using a mixed-methods design.

Hammond, Jennifer / Klapwijk, Jasmijn E / Riedijk, Sam / Lou, Stina / Ormond, Kelly E / Vogel, Ida / Hui, Lisa / Sziepe, Emma-Jane / Buchanan, James / Ingvoldstad-Malmgren, Charlotta / Soller, Maria Johansson / Harding, Eleanor / Hill, Melissa / Lewis, Celine

PloS one

2022 Volume 17, Issue 1, Page(s) e0261898

Abstract: Prenatal DNA tests, such as chromosomal microarray analysis or exome sequencing, increase the likelihood of receiving a diagnosis when fetal structural anomalies are identified. However, some parents will receive uncertain results such as variants of ... ...

Abstract	Prenatal DNA tests, such as chromosomal microarray analysis or exome sequencing, increase the likelihood of receiving a diagnosis when fetal structural anomalies are identified. However, some parents will receive uncertain results such as variants of uncertain significance and secondary findings. We aimed to develop a set of attributes and associated levels for a discrete-choice experiment (DCE) that will examine parents' preferences for tests that may reveal uncertain test results. A two phase mixed-methods approach was used to develop attributes for the DCE. In Phase 1, a "long list" of candidate attributes were identified via two approaches: 1) a systematic review of the literature around parental experiences of uncertainty following prenatal testing; 2) 16 semi-structured interviews with parents who had experienced uncertainty during pregnancy and 25 health professionals who return uncertain prenatal results. In Phase 2, a quantitative scoring exercise with parents prioritised the candidate attributes. Clinically appropriate levels for each attribute were then developed. A final set of five attributes and levels were identified: likelihood of getting a result, reporting of variants of uncertain significance, reporting of secondary findings, time taken to receive results, and who tells you about your result. These attributes will be used in an international DCE study to investigate preferences and differences across countries. This research will inform best practice for professionals supporting parents to manage uncertainty in the prenatal setting.
MeSH term(s)	Adult ; Female ; Genetic Testing ; Genomics ; Humans ; Middle Aged ; Patient Preference ; Prenatal Diagnosis
Language	English
Publishing date	2022-01-28
Publishing country	United States
Document type	Clinical Trial ; Journal Article ; Multicenter Study ; Research Support, Non-U.S. Gov't
ZDB-ID	2267670-3
ISSN	1932-6203 ; 1932-6203
ISSN (online)	1932-6203
ISSN	1932-6203
DOI	10.1371/journal.pone.0261898
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Article ; Online: A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population.

Lagerstedt-Robinson, Kristina / Baranowska Körberg, Izabella / Tsiaprazis, Stefanos / Björck, Erik / Tham, Emma / Poluha, Anna / Hellström Pigg, Maritta / Paulsson-Karlsson, Ylva / Nordenskjöld, Magnus / Johansson-Soller, Maria / Aravidis, Christos

PloS one

2022 Volume 17, Issue 2, Page(s) e0264056

Abstract: Birt-Hogg-Dube syndrome (BHDS) (MIM: 135150) is a rare autosomal dominant disorder with variable penetrance, caused by pathogenic variants in the FLCN gene. Only a few hundreds of families have so far been described in the literature. Patients with BHDS ... ...

Abstract	Birt-Hogg-Dube syndrome (BHDS) (MIM: 135150) is a rare autosomal dominant disorder with variable penetrance, caused by pathogenic variants in the FLCN gene. Only a few hundreds of families have so far been described in the literature. Patients with BHDS present with three distinct symptoms: fibrofolliculomas, pneumothorax due to lung cyst formation, and increased lifetime risk of kidney tumours. The aim of the current study was to estimate the incidence of BHDS in the Swedish population and further describe the clinical manifestations and their frequency. Splice variant c.779+1G>T was the most common pathogenic variant, found in 57% of the families, suggesting this may be a founder mutation in the Swedish population. This was further investigated using haplotype analysis in 50 families that shared a common haplotype. Moreover, according to gnomAD the carrier frequency of the c.779+1G>T variant has been estimated to be 1/3265 in the Swedish population, however our data suggest that the carrier frequency in the Swedish population may be significantly higher. These findings should raise awareness among physicians of different specialties to patients presenting with fibrofolliculomas, pneumothorax and/or kidney tumours. We also stress the importance of consensus recommendations regarding diagnosis and clinical management of this, not that uncommon, syndrome.
MeSH term(s)	Adult ; Birt-Hogg-Dube Syndrome/epidemiology ; Birt-Hogg-Dube Syndrome/genetics ; Birt-Hogg-Dube Syndrome/pathology ; Female ; Humans ; Male ; Mutation ; Pedigree ; Proto-Oncogene Proteins/genetics ; Retrospective Studies ; Sweden/epidemiology ; Tumor Suppressor Proteins/genetics
Chemical Substances	FLCN protein, human ; Proto-Oncogene Proteins ; Tumor Suppressor Proteins
Language	English
Publishing date	2022-02-17
Publishing country	United States
Document type	Journal Article ; Multicenter Study
ZDB-ID	2267670-3
ISSN	1932-6203 ; 1932-6203
ISSN (online)	1932-6203
ISSN	1932-6203
DOI	10.1371/journal.pone.0264056
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Article ; Online: A stroke gene panel for whole-exome sequencing.

Ilinca, Andreea / Samuelsson, Sofie / Piccinelli, Paul / Soller, Maria / Kristoffersson, Ulf / Lindgren, Arne G

European journal of human genetics : EJHG

2018 Volume 27, Issue 2, Page(s) 317–324

Abstract: Extensive analyses of known monogenic causes of stroke by whole-exome/genome sequencing are technically possible today. We here aimed to compile a comprehensive panel of genes associated with monogenic causes of stroke for use in clinical and research ... ...

Abstract	Extensive analyses of known monogenic causes of stroke by whole-exome/genome sequencing are technically possible today. We here aimed to compile a comprehensive panel of genes associated with monogenic causes of stroke for use in clinical and research situations. We systematically searched the publically available database Online Mendelian Inheritance in Man, and validated the entries against original peer-reviewed publications in PubMed. First, we selected known pathogenic or putatively pathogenic stroke genes reported in at least one person with stroke, and classified the stroke phenotype for each gene into eight subgroups: (1) large artery atherosclerotic, (2) large artery non-atherosclerotic (tortuosity, dolichoectasia, aneurysm, non-atherosclerotic dissection, occlusion), (3) cerebral small-vessel diseases, (4) cardioembolic (arrhythmia, heart defect, cardiomyopathy), (5) coagulation dysfunctions (venous thrombosis, arterial thrombosis, bleeding tendency), (6) intracerebral hemorrhage, (7) vascular malformations (cavernoma, arteriovenous malformations), and (8) metabolism disorders. Second, we selected other genes that may plausibly cause stroke through diseases related to stroke, but without any documented stroke patient description. A third section comprised SNPs associated with stroke in genome-wide association studies (GWAS). We identified in total 214 genes: 120 associated with stroke, 62 associated with diseases that may cause stroke, and 32 stroke-related genes from recent GWAS. We describe these 214 genes and the clinical stroke subtype(s) associated with each of them. The resulting gene panel can be used to interpret exome sequencing results regarding monogenic stroke. Based on the panel's clinical phenotype description, the pathogenicity of novel variants in these genes may be evaluated in specific situations.
MeSH term(s)	Databases, Genetic ; Genome-Wide Association Study ; Humans ; Polymorphism, Single Nucleotide ; Stroke/genetics ; Whole Exome Sequencing
Language	English
Publishing date	2018-10-24
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Systematic Review
ZDB-ID	1141470-4
ISSN	1476-5438 ; 1018-4813
ISSN (online)	1476-5438
ISSN	1018-4813
DOI	10.1038/s41431-018-0274-4
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Article ; Online: Factors that impact on women's decision-making around prenatal genomic tests: An international discrete choice survey.

Buchanan, James / Hill, Melissa / Vass, Caroline M / Hammond, Jennifer / Riedijk, Sam / Klapwijk, Jasmijn E / Harding, Eleanor / Lou, Stina / Vogel, Ida / Hui, Lisa / Ingvoldstad-Malmgren, Charlotta / Soller, Maria Johansson / Ormond, Kelly E / Choolani, Mahesh / Zheng, Qian / Chitty, Lyn S / Lewis, Celine

Prenatal diagnosis

2022 Volume 42, Issue 7, Page(s) 934–946

Abstract: Objective: We conducted a survey-based discrete-choice experiment (DCE) to understand the test features that drive women's preferences for prenatal genomic testing, and explore variation across countries.: Methods: Five test attributes were ... ...

Abstract	Objective: We conducted a survey-based discrete-choice experiment (DCE) to understand the test features that drive women's preferences for prenatal genomic testing, and explore variation across countries. Methods: Five test attributes were identified as being important for decision-making through a literature review, qualitative interviews and quantitative scoring exercise. Twelve scenarios were constructed in which respondents choose between two invasive tests or no test. Women from eight countries who delivered a baby in the previous 24 months completed a DCE presenting these scenarios. Choices were modeled using conditional logit regression analysis. Results: Surveys from 1239 women (Australia: n = 178; China: n = 179; Denmark: n = 88; Netherlands: n = 177; Singapore: n = 90; Sweden: n = 178; UK: n = 174; USA: n = 175) were analyzed. The key attribute affecting preferences was a test with the highest diagnostic yield (p < 0.01). Women preferred tests with short turnaround times (p < 0.01), and tests reporting variants of uncertain significance (VUS; p < 0.01) and secondary findings (SFs; p < 0.01). Several country-specific differences were identified, including time to get a result, who explains the result, and the return of VUS and SFs. Conclusion: Most women want maximum information from prenatal genomic tests, but our findings highlight country-based differences. Global consensus on how to return uncertain results is not necessarily realistic or desirable.
MeSH term(s)	Choice Behavior ; Female ; Genetic Testing ; Genomics ; Humans ; Patient Preference ; Pregnancy ; Prenatal Diagnosis ; Surveys and Questionnaires
Language	English
Publishing date	2022-04-30
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	82031-3
ISSN	1097-0223 ; 0197-3851
ISSN (online)	1097-0223
ISSN	0197-3851
DOI	10.1002/pd.6159
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Article ; Online: Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting: An international cross-sectional study with healthcare professionals.

Lewis, Celine / Hammond, Jennifer / Klapwijk, Jasmijn E / Harding, Eleanor / Lou, Stina / Vogel, Ida / Szepe, Emma J / Hui, Lisa / Ingvoldstad-Malmgren, Charlotta / Soller, Maria J / Ormond, Kelly E / Choolani, Mahesh / Hill, Melissa / Riedijk, Sam

Prenatal diagnosis

2021 Volume 41, Issue 6, Page(s) 720–732

Abstract: Objectives: To conduct qualitative interviews with healthcare providers working in different countries to understand their experiences of dealing with uncertain results from prenatal chromosome microarray analysis (CMA) and exome sequencing (ES).: ... ...

Abstract	Objectives: To conduct qualitative interviews with healthcare providers working in different countries to understand their experiences of dealing with uncertain results from prenatal chromosome microarray analysis (CMA) and exome sequencing (ES). Methods: Semi-structured interviews with 31 healthcare providers who report or return prenatal CMA and/or ES results (clinicians, genetic counsellors and clinical scientists) in six countries with differing healthcare systems; Australia (4), Denmark (5), Netherlands (6), Singapore (4), Sweden (6) and United Kingdom (6). The topic guide explored the main sources of uncertainty and their management. Results: There was variation in reporting practices both between and across countries for variants of uncertain significance, however, there was broad agreement on reporting practices for incidental findings. There was also variation in who decides what results are reported (clinical scientists or clinicians). Technical limitations and lack of knowledge (to classify variants and of prenatal phenotypes) were significant challenges, as were turnaround times and lack of guidelines. Conclusion: Health professionals around the globe are dealing with similar sources of uncertainty, but managing them in different ways, Continued dialogue with international colleagues on ways of managing uncertain results is important to compare and contrast the benefits and limitations of the different approaches.
MeSH term(s)	Adult ; Australia ; Cross-Sectional Studies ; Denmark ; Female ; Health Personnel/psychology ; Health Personnel/statistics & numerical data ; Humans ; Interviews as Topic/methods ; Microarray Analysis/methods ; Microarray Analysis/standards ; Microarray Analysis/statistics & numerical data ; Netherlands ; Pregnancy ; Prenatal Care/methods ; Prenatal Care/standards ; Prenatal Care/statistics & numerical data ; Singapore ; Sweden ; Uncertainty ; United Kingdom ; Whole Exome Sequencing/methods ; Whole Exome Sequencing/standards ; Whole Exome Sequencing/statistics & numerical data
Language	English
Publishing date	2021-03-30
Publishing country	England
Document type	Journal Article
ZDB-ID	82031-3
ISSN	1097-0223 ; 0197-3851
ISSN (online)	1097-0223
ISSN	0197-3851
DOI	10.1002/pd.5932
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Article ; Online: Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke.

Ilinca, Andreea / Martinez-Majander, Nicolas / Samuelsson, Sofie / Piccinelli, Paul / Truvé, Katarina / Cole, John / Kittner, Steven / Soller, Maria / Kristoffersson, Ulf / Tatlisumak, Turgut / Puschmann, Andreas / Putaala, Jukka / Lindgren, Arne

Stroke

2020 Volume 51, Issue 4, Page(s) 1056–1063

Abstract: Backgrounds and Purpose- Although new methods for genetic analyses are rapidly evolving, there are currently knowledge gaps in how to detect Mendelian forms of stroke. Methods- We performed whole-exome sequencing in 22 probands, under 56 years at their ... ...

Abstract	Backgrounds and Purpose- Although new methods for genetic analyses are rapidly evolving, there are currently knowledge gaps in how to detect Mendelian forms of stroke. Methods- We performed whole-exome sequencing in 22 probands, under 56 years at their first ischemic stroke episode, from multi-incident stroke families. With the use of a comprehensive stroke-gene panel, we searched for variants in stroke-related genes. The probands' clinical stroke subtype was related to clinical characteristics previously associated with pathogenic variants in these genes. Relatives were genotyped in 7 families to evaluate stroke-gene variants of unknown significance. In 2 larger families with embolic stroke of unknown source, whole-exome sequencing was performed in additional members to examine the possibility of identifying new stroke genes. Results- Six of 22 probands carried pathogenic or possibly pathogenic variants in genes reported to be associated with their stroke subtype. A known pathogenic variant in
MeSH term(s)	Adult ; Aged ; Brain Ischemia/diagnosis ; Brain Ischemia/genetics ; Cluster Analysis ; Female ; Humans ; Male ; Middle Aged ; Pedigree ; Prospective Studies ; Stroke/diagnosis ; Stroke/genetics ; Whole Exome Sequencing/methods
Language	English
Publishing date	2020-03-16
Publishing country	United States
Document type	Clinical Trial ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	80381-9
ISSN	1524-4628 ; 0039-2499 ; 0749-7954
ISSN (online)	1524-4628
ISSN	0039-2499 ; 0749-7954
DOI	10.1161/STROKEAHA.119.027474
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