| 1. |
- Georgsson, Susanne, et al.
(författare)
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Knowledge and attitudes regarding non-invasive prenatal testing (NIPT) and preferences for risk information among high school students in Sweden
- 2017
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Ingår i: Journal of Genetic Counseling. - New York : Human Sciences Press. - 1059-7700 .- 1573-3599. ; 26:3, s. 447-454
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Tidskriftsartikel (refereegranskat)abstract
- Non-invasive prenatal testing (NIPT) was recently introduced for prenatal testing of genetic disorders. Cell-free fetal DNA is present in maternal blood during pregnancy and enables detection of fetal chromosome aberrations in a maternal blood sample. The public perspective to this new, simple method has not been illuminated. The views of young people (i.e. future parents) are important to develop suitable counseling strategies regarding prenatal testing. The aim was to explore Swedish high school students' attitudes, knowledge and preferences regarding NIPT. A questionnaire was completed by 305 students recruited from one high school in Stockholm, November and December 2014. Most students (80 %) considered prenatal testing as good. The majority (65 %) was positive or very positive towards NIPT and 62 % stated that they potentially would like to undergo the test if they or their partner was pregnant. The vast majority (94 %) requested further information about NIPT. Most students (61 %) preferred verbal information, whereas 20 % preferred information via the Internet. The majority of the high school students was positive towards prenatal testing and most was positive towards NIPT. Further, information was requested by the vast majority before making a decision about NIPT. Most of the students preferred verbal information and to a lesser extent information via the Internet. The attitudes, knowledge and preferences for risk information concerning NIPT in young adults are important, in order to increase knowledge on how to educate and inform future parents.
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| 2. |
- Gunnarsson, Carina, et al.
(författare)
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Optimerad lagring av biomassa : en strategisk innovationsagenda
- 2016
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- I dag finns stor kunskap inom området lagring av biomassa, även om kunskapen i delar är fragmenterad. Inom energiområdet finns problem med både lagringsförluster och arbetsmiljö. Vid lagring av grödor till foder och livsmedel är bibehållen kvalitet hos biomassan under lagring en förutsättning, och mycket forskning och utveckling har bedrivits inom detta område. Genom samverkan mellan olika områden skapar vi förutsättningar att tänka i nya banor och öka möjligheterna för en optimerad lagring av biomassa. Arbetet med agendan har gett nya gränsöverskridande diskussioner och samarbeten. Med en förväntad kraftigt ökad efterfrågan och därmed konkurrens om biomassa blir effektivitet och hållbarhet nyckelfaktorer för fortsatt god tillgång. Kontinuerliga förbättringar i alla led av tillförselkedjan är nödvändiga för att hantera dessa i grunden positiva marknadsförändringar. Ett billigare och mer homogent bio-bränsle från jord- och skogsbruk leder till ökad konkurrenskraft gentemot andra idag billigare bränslen. Vid biobaserad värme- och kraftvärmeproduktion står bränslet för en av de största kostnadsposterna, vilket gör hantering och lagring med låga förluster högt prioriterat. Biobränslen från jord- och skogsbruk har en hög fukthalt vid skörd, vilket innebär att de har låg lagringsstabilitet. För att få ned kostnaderna för hantering och lagring, och kunna leverera efterfrågade kvaliteter och därmed öka bio-bränslenas konkurrenskraft, behövs mer kunskap om vad som händer med bränslet under olika lagringsförhållanden med olika lagrings- och hanteringsmetoder. Grundläggande och fördjupade kunskaper för att bedöma lagringsstabiliten för biomassa, framför allt livsmedelsbaserade såsom spannmål och rapsfrö, finns och är helt nödvändig för att garantera livsmedelssäkerhet. Dessa erfarenheter kan användas för att öka kunskapen om lagringsstabilitet och lagringsförluster hos biomassa som helhet. Denna agenda har tagits fram i samverkan mellan forskare från jord- och skogsbruk samt representanter från råvaruproducenter och energibolag som slutanvändare. Agendans syfte är att skapa ett bra utgångs-läge för en effektivare hantering av biomassa genom kunskapsöverföring mellan branscher. Agendans mål är ta fram forskningsbehov för utveckling och innovationer inom området som ska leda till effektiv och kvalitetssäkrad hantering av biomassa. Fokus är användning av biomassa inom energisektorn. Agendan avgränsas till att omfatta primära och sekundära oförädlade biobränslen från skogsbruk och jordbruk samt återvunna trädbränslen för värme- och kraftvärmeproduktion för anläggningar större än 1 MW. Vår vision är att använda biobränslets fulla potential genom kontrollerad lagring med låga förluster som ger effektiva och lönsamma leveranser med förutsägbar och homogen kvalitet utan hälsorisker. Vid två workshops på JTI i Uppsala träffades deltagarna för att identifiera kunskapsluckor, forskningsbehov och aktiviteter. För att inkludera synpunkter från fler aktörer genomfördes telefonintervjuer med ytterligare personer med koppling till biomassalagring.
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| 3. |
- Howard, Heidi Carmen, et al.
(författare)
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Mapping uncertainty in genomics
- 2018
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Ingår i: Journal of Risk Research. - : ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD. - 1366-9877 .- 1466-4461. ; 21:2, s. 117-128
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Tidskriftsartikel (refereegranskat)abstract
- The relatively novel and dynamic science of genomics holds many unknowns for stakeholders, and in particular for researchers and clinicians, as well as for participants and patients. At a time when many authors predict a future in which genomic medicine will be the norm, it is particularly relevant to discuss the unknowns surrounding genetics and genomics, including the notions of risk and uncertainty. This article will present a discussion regarding the uncertainty pertaining specifically to high throughput sequencing approaches, including the topic of incidental findings. This discussion will be guided by a taxonomy of uncertainty conceptualised around three areas of uncertainty: the source of uncertainty, the issues of uncertainty and the loci of uncertainty. This taxonomy can be used as a tool by all stakeholders involved in genomics to help further understand and anticipate uncertainties in genomics. Furthermore, to better contextualize this information, and also because this contribution is born out of an international project titled Mind the Risk', which addresses risk information in genetics and genomics from many different disciplinary perspectives, another aim of this article is to briefly present the basic issues pertaining to the unknowns, risks, and uncertainties of genetics as well as genomics for an audience of non-geneticists. Ultimately, the mapping out of uncertainty in genomics should allow for a better characterization of the uncertainty and consequently for a better management and communication of these uncertainties to end-users (research participants and patients).
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| 4. |
- Iwarsson, Erik, et al.
(författare)
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Analysis of cell-free fetal DNA in maternal blood for detection of trisomy 21, 18 and 13 in a general pregnant population and in a high risk population - a systematic review and meta-analysis
- 2017
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Ingår i: Acta Obstetricia et Gynecologica Scandinavica. - : WILEY-BLACKWELL. - 0001-6349 .- 1600-0412. ; 96:1
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Forskningsöversikt (refereegranskat)abstract
- IntroductionThe aim of this study was to review the performance of non-invasive prenatal testing (NIPT) for detection of trisomy 21, 18 and 13 (T21, T18 and T13) in a general pregnant population as well as to update the data on high-risk pregnancies. Material and methodsSystematic review and meta-analysis. PubMed, Embase and the Cochrane Library were searched. Methodological quality was rated using QUADAS and scientific evidence using GRADE. Summary measures of diagnostic accuracy were calculated using a bivariate random-effects model. ResultsIn a general pregnant population, there is moderate evidence that the pooled sensitivity is 0.993 (95% CI 0.955-0.999) and specificity was 0.999 (95% CI 0.998-0.999) for the analysis of T21. Pooled sensitivity and specificity for T13 and T18 was not calculated in this population due to the low number of studies. In a high-risk pregnant population, there is moderate evidence that the pooled sensitivities for T21 and T18 are 0.998 (95% CI 0.981-0.999) and 0.977 (95% CI 0.958-0.987) respectively, and low evidence that the pooled sensitivity for T13 is 0.975 (95% CI 0.819-0.997). The pooled specificity for all three trisomies is 0.999 (95% CI 0.998-0.999). ConclusionsThis is the first meta-analysis using GRADE that shows that NIPT performs well as a screen for trisomy 21 in a general pregnant population. Although the false positive rate is low compared with first trimester combined screening, women should still be advised to confirm a positive result by invasive testing if termination of pregnancy is under consideration.
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| 5. |
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| 6. |
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| 7. |
- Leal, Gabriela Ferraz, et al.
(författare)
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Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2
- 2018
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Ingår i: Journal of Bone and Mineral Research. - : Wiley. - 0884-0431. ; 33:4, s. 753-760
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Tidskriftsartikel (refereegranskat)abstract
- Osteogenesis imperfecta (OI) is a strikingly heterogeneous group of disorders with a broad range of phenotypic variations. It is also one of the differential diagnoses in bent bone dysplasias along with campomelic dysplasia and thanatophoric dysplasia and can usually be distinguished by decreased bone mineralization and bone fractures. Bent bone dysplasias also include syndromes such as kyphomelic dysplasia (MIM:211350) and mesomelic dysplasia Kozlowski-Reardon (MIM249710), both of which have been under debate regarding whether or not they are a real entity or simply a phenotypic manifestation of another dysplasia including OI. Bruck syndrome type 2 (BRKS2; MIM:609220) is a rare form of autosomal recessive OI caused by biallelic PLOD2 variants and is associated with congenital joint contractures with pterygia. In this report, we present six patients from four families with novel PLOD2 variants. All cases had multiple fractures. Other features ranged from prenatal lethal severe angulation of the long bones as in kyphomelic dysplasia and mesomelic dysplasia Kozlowski-Reardon through classical Bruck syndrome to moderate OI with normal joints. Two siblings with a kyphomelic dysplasia-like phenotype who were stillborn had compound heterozygous variants in PLOD2 (p.Asp585Val and p.Ser166*). One infant who succumbed at age 4 months had a bent bone phenotype phenotypically like skeletal dysplasia Kozlowski-Reardon (with mesomelic shortening, camptodactyly, retrognathia, cleft palate, skin dimples, but also with fractures). He was homozygous for the nonsense variant (p.Trp561*). Two siblings had various degrees of Bruck syndrome caused by the homozygous missense variant, p.His687Arg. Furthermore a boy with a clinical presentation of moderate OI had a possibly pathogenic homozygous variant p.Trp588Cys. Our experience of six patients with biallelic pathogenic variants in PLOD2 expands the phenotypic spectrum in the PLOD2-related phenotypes.
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| 8. |
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| 9. |
- Lindstrand, Anna, et al.
(författare)
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From cytogenetics to cytogenomics : whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability
- 2019
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Ingår i: Genome Medicine. - : BMC. - 1756-994X .- 1756-994X. ; 11:1
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundSince different types of genetic variants, from single nucleotide variants (SNVs) to large chromosomal rearrangements, underlie intellectual disability, we evaluated the use of whole-genome sequencing (WGS) rather than chromosomal microarray analysis (CMA) as a first-line genetic diagnostic test.MethodsWe analyzed three cohorts with short-read WGS: (i) a retrospective cohort with validated copy number variants (CNVs) (cohort 1, n=68), (ii) individuals referred for monogenic multi-gene panels (cohort 2, n=156), and (iii) 100 prospective, consecutive cases referred to our center for CMA (cohort 3). Bioinformatic tools developed include FindSV, SVDB, Rhocall, Rhoviz, and vcf2cytosure.ResultsFirst, we validated our structural variant (SV)-calling pipeline on cohort 1, consisting of three trisomies and 79 deletions and duplications with a median size of 850kb (min 500bp, max 155Mb). All variants were detected. Second, we utilized the same pipeline in cohort 2 and analyzed with monogenic WGS panels, increasing the diagnostic yield to 8%. Next, cohort 3 was analyzed by both CMA and WGS. The WGS data was processed for large (>10kb) SVs genome-wide and for exonic SVs and SNVs in a panel of 887 genes linked to intellectual disability as well as genes matched to patient-specific Human Phenotype Ontology (HPO) phenotypes. This yielded a total of 25 pathogenic variants (SNVs or SVs), of which 12 were detected by CMA as well. We also applied short tandem repeat (STR) expansion detection and discovered one pathologic expansion in ATXN7. Finally, a case of Prader-Willi syndrome with uniparental disomy (UPD) was validated in the WGS data.Important positional information was obtained in all cohorts. Remarkably, 7% of the analyzed cases harbored complex structural variants, as exemplified by a ring chromosome and two duplications found to be an insertional translocation and part of a cryptic unbalanced translocation, respectively.ConclusionThe overall diagnostic rate of 27% was more than doubled compared to clinical microarray (12%). Using WGS, we detected a wide range of SVs with high accuracy. Since the WGS data also allowed for analysis of SNVs, UPD, and STRs, it represents a powerful comprehensive genetic test in a clinical diagnostic laboratory setting.
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| 10. |
- Paulrud, Susanne, et al.
(författare)
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Innovationskluster för internationalisering inom bioenergiområdet - förstudie
- 2018
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- Bioenergy contributes to a sustainable energy mix in most countries worldwide, is the largest renewable energy generation and has a global development potential. Bioenergy today accounts for 60 percent of all renewable energy in the EU: 11 percent of all used energy, compared with 7 percent for all other renewable energy sources. However, the market for Swedish bioenergy and bioenergy technology in Sweden has decreased. Partly because our domestic market for new district heating installations has already been expanded and partly because the competition from electricity heating through energy efficient heat pumps in the residential segment takes over the exchange market. In order for Swedish know-how and products to grow, increased exports and visibility are important. An innovation cluster for internationalization in the bioenergy field cre-ates a meeting place that facilitates involved bioenergy companies and organizations to create sustainable growth inside and outside their own industry.
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