Implementing precision medicine in a regionally organized healthcare system in Sweden

被引：29

作者：

Fioretos, Thoas ^{[1
,2
,3
]}

Wirta, Valtteri ^{[4
,5
,6
]}

Cavelier, Lucia ^{[7
,8
,9
]}

Berglund, Eva ^{[7
]}

Friedman, Mikaela ^{[8
]}

Akhras, Michael ^{[4
]}

Botling, Johan ^{[7
]}

Ehrencrona, Hans ^{[1
,2
]}

Engstrand, Lars ^{[10
]}

Helenius, Gisela ^{[11
]}

Fagerqvist, Therese ^{[12
]}

Gisselsson, David ^{[1
,2
]}

Gruvberger-Saal, Sofia ^{[2
]}

Gyllensten, Ulf ^{[7
]}

Heidenblad, Markus ^{[3
]}

Hoglund, Kina ^{[13
]}

Jacobsson, Bo ^{[14
,15
]}

Johansson, Maria ^{[16
]}

Johansson, Asa ^{[17
]}

Soller, Maria Johansson ^{[5
,8
,9
]}

Landstrom, Marene ^{[18
]}

Larsson, Par ^{[18
,19
]}

Levin, Lars-Ake ^{[20
]}

Lindstrand, Anna ^{[5
,8
,9
]}

Lovmar, Lovisa ^{[13
]}

Lyander, Anna ^{[4
,6
]}

Melin, Malin ^{[7
]}

Nordgren, Ann ^{[8
,9
,13
,21
]}

Nordmark, Gunnel ^{[22
]}

Molling, Paula ^{[23
]}

Palmqvist, Lars ^{[21
,24
,25
]}

Palmqvist, Richard ^{[18
]}

Repsilber, Dirk ^{[26
]}

Sikora, Per ^{[13
,24
,27
]}

Stenmark, Bianca ^{[23
]}

Soderkvist, Peter ^{[28
,29
]}

Stranneheim, Henrik ^{[4
,5
,8
]}

Strid, Tobias ^{[29
,30
]}

Wheelock, Craig E. ^{[31
,32
]}

Wadelius, Mia ^{[33
]}

Wedell, Anna ^{[5
,8
,34
]}

Edsjo, Anders ^{[2
,35
]}

Rosenquist, Richard ^{[5
,8
,9
]}

机构：

[1] Lund Univ, Dept Lab Med, Div Clin Genet, Lund, Sweden

[2] Reg Skane, Dept Clin Genet Pathol & Mol Diagnost, Off Med Serv, Lund, Sweden

[3] Lund Univ, Sci Life Lab, Clin Genom Lund, Lund, Sweden

[4] Karolinska Inst, Dept Microbiol Tumor & Cell Biol, Clin Genom Stockholm, Sci Life Lab, Solna, Sweden

[5] Karolinska Univ Hosp, Genom Med Ctr Karolinska, Stockholm, Sweden

[6] KTH Royal Inst Technol, Sch Engn Sci Chem Biotechnol & Hlth, Clin Genom Stockholm, Sci Life Lab, Stockholm, Sweden

[7] Uppsala Univ, Dept Immunol Genet & Pathol, Clin Genom Uppsala, Sci Life Lab, Uppsala, Sweden

[8] Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden

[9] Karolinska Univ Hosp, Clin Genet, Solna, Sweden

[10] Karolinska Inst, Ctr Translat Microbiome Res, Dept Microbiol Tumor & Cell Biol, Solna, Sweden

[11] Orebro Univ, Fac Med & Hlth, Dept Lab Med, Orebro, Sweden

[12] Uppsala Univ, Innovat Partnership Off, Uppsala, Sweden

[13] Sahlgrens Univ Hosp, Dept Clin Genet & Genom, Gothenburg, Sweden

[14] Gothenburg Univ, Sahlgrenska Acad, Dept Obstet & Gynecol, Gothenburg, Sweden

[15] Sahlgrens Univ Hosp, Dept Obstet & Gynecol, Gothenburg, Sweden

[16] Lund Univ, Lund Univ Collaborat Off, Lund, Sweden

[17] Uppsala Univ, Dept Immunol Genet & Pathol, Sci Life Lab, Uppsala, Sweden

[18] Umea Univ, Dept Med Biosci, Umea, Sweden

[19] Umea Univ, Sci Life Lab, Clin Genom Umea, Umea, Sweden

[20] Linkoping Univ, Dept Hlth Med & Caring Sci, Linkoping, Sweden

[21] Univ Gothenburg, Inst Biomed, Dept Lab Med, Gothenburg, Sweden

[22] Uppsala Univ, Dept Med Sci, Rheumatol, Uppsala, Sweden

[23] Orebro Univ, Fac Med & Hlth, Dept Lab Med Clin Pathol & Genet, Orebro, Sweden

[24] Univ Gothenburg, Sci Life Lab, Clin Genom Gothenburg, Gothenburg, Sweden

[25] Sahlgrens Univ Hosp, Dept Clin Chem, Gothenburg, Sweden

[26] Orebro Univ, Sch Med Sci, Orebro, Sweden

[27] Univ Gothenburg, Sahlgrenska Acad, Bioinformat Data Ctr, Core Facil, Gothenburg, Sweden

[28] Linkoping Univ, Div Med Genet Biomed & Clin Sci, Linkoping, Sweden

[29] Linkoping Univ, Clin Genom Linkoping, Linkoping, Sweden

[30] Linkoping Univ, Dept Clin Pathol Biol & Clin Sci, Linkoping, Sweden

[31] Karolinska Inst, Inst Environm Med, Unit Integrat Metabol, Stockholm, Sweden

[32] Karolinska Univ Hosp, Dept Resp Med & Allergy, Stockholm, Sweden

[33] Uppsala Univ, Dept Med Sci, Sci Life Lab, Clin Pharmacogen, Uppsala, Sweden

[34] Karolinska Univ Hosp, Ctr Inherited Metab Dis, Stockholm, Sweden

[35] Lund Univ, Dept Clin Sci, Div Pathol, Lund, Sweden

来源：

NATURE MEDICINE | 2022年 / 28卷 / 10期

关键词：

WHOLE-GENOME;

D O I：

10.1038/s41591-022-01963-4

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

引用

页码：1980 / 1982

页数：3

共 11 条

[1] A Study Protocol for Validation and Implementation of Whole-Genome and -Transcriptome Sequencing as a Comprehensive Precision Diagnostic Test in Acute Leukemias [J].

Berglund, Eva ;

Barbany, Gisela ;

Orsmark-Pietras, Christina ;

Fogelstrand, Linda ;

Abrahamsson, Jonas ;

Golovleva, Irina ;

Hallbook, Helene ;

Hoglund, Martin ;

Lazarevic, Vladimir ;

Levin, Lars-Ake ;

Nordlund, Jessica ;

Noren-Nystrom, Ulrika ;

Palle, Josefine ;

Thangavelu, Tharshini ;

Palmqvist, Lars ;

Wirta, Valtteri ;

Cavelier, Lucia ;

Fioretos, Thoas ;

Rosenquist, Richard ;

Clinical Genomics Platform SciLifeLab Genomic Med Sweden .

FRONTIERS IN MEDICINE, 2022, 9

[2] Technological readiness and implementation of genomic-driven precision medicine for complex diseases [J].

Franks, P. W. ;

Melen, E. ;

Friedman, M. ;

Sundstrom, J. ;

Kockum, I ;

Klareskog, L. ;

Almqvist, C. ;

Bergen, S. E. ;

Czene, K. ;

Hagg, S. ;

Hall, P. ;

Johnell, K. ;

Malarstig, A. ;

Catrina, A. ;

Hagstrom, H. ;

Benson, M. ;

Smith, J. Gustav ;

Gomez, M. F. ;

Orho-Melander, M. ;

Jacobsson, B. ;

Halfvarson, J. ;

Repsilber, D. ;

Oresic, M. ;

Jern, C. ;

Melin, B. ;

Ohlsson, C. ;

Fall, T. ;

Ronnblom, L. ;

Wadelius, M. ;

Nordmark, G. ;

Johansson, A. ;

Rosenquist, R. ;

Sullivan, P. F. .

JOURNAL OF INTERNAL MEDICINE, 2021, 290 (03) :602-620

[3] Gain-of-function mutation of microRNA-140 in human skeletal dysplasia [J].

Grigelioniene, Giedre ;

Suzuki, Hiroshi I. ;

Taylan, Fulya ;

Mirzamohammadi, Fatemeh ;

Borochowitz, Zvi U. ;

Ayturk, Ugur M. ;

Tzur, Shay ;

Horemuzova, Eva ;

Lindstrand, Anna ;

Weis, Mary Ann ;

Grigelionis, Gintautas ;

Hammarsjo, Anna ;

Marsk, Elin ;

Nordgren, Ann ;

Nordenskjold, Magnus ;

Eyre, David R. ;

Warman, Matthew L. ;

Nishimura, Gen ;

Sharp, Phillip A. ;

Kobayashi, Tatsuya .

NATURE MEDICINE, 2019, 25 (04) :583-+

[4] Genomic medicine 2025: France in the race for precision medicine [J].

Levy, Yves .

LANCET, 2016, 388 (10062) :2872-2872

[5] 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 [J].

Lindstrand, Anna ;

Eisfeldt, Jesper ;

Pettersson, Maria ;

Carvalho, Claudia M. B. ;

Kvarnung, Malin ;

Grigelioniene, Giedre ;

Anderlid, Britt-Marie ;

Bjerin, Olof ;

Gustavsson, Peter ;

Hammarsjo, Anna ;

Georgii-Hemming, Patrik ;

Iwarsson, Erik ;

Johansson-Soller, Maria ;

Lagerstedt-Robinson, Kristina ;

Lieden, Agne ;

Magnusson, Mans ;

Martin, Marcel ;

Malmgren, Helena ;

Nordenskjold, Magnus ;

Norling, Ameli ;

Sahlin, Ellika ;

Stranneheim, Henrik ;

Tham, Emma ;

Wincent, Josephine ;

Ygberg, Sofia ;

Wedell, Anna ;

Wirta, Valtteri ;

Nordgren, Ann ;

Lundin, Johanna ;

Nilsson, Daniel .

GENOME MEDICINE, 2019, 11 (01)

[6] Harmonization after the GDPR? Divergences in the rules for genetic and health data sharing in four member states and ways to overcome them by EU measures: Insights from Germany, Greece, Latvia and Sweden [J].

Molnar-Gabor, Fruzsina ;

Sellner, Julian ;

Pagil, Sophia ;

Slokenberga, Santa ;

Tzortzatou-Nanopoulou, Olga ;

Nystrom, Katarina .

SEMINARS IN CANCER BIOLOGY, 2022, 84 :271-283

[7] Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions [J].

Olive, Montse ;

Engvall, Martin ;

Ravenscroft, Gianina ;

Cabrera-Serrano, Macarena ;

Jiao, Hong ;

Bortolotti, Carlo Augusto ;

Pignataro, Marcello ;

Lambrughi, Matteo ;

Jiang, Haibo ;

Forrest, Alistair R. R. ;

Benseny-Cases, Nuria ;

Hofbauer, Stefan ;

Obinger, Christian ;

Battistuzzi, Gianantonio ;

Bellei, Marzia ;

Borsari, Marco ;

Di Rocco, Giulia ;

Viola, Helena M. ;

Hoo, Livia C. ;

Cladera, Josep ;

Lagerstedt-Robinson, Kristina ;

Xiang, Fengqing ;

Wredenberg, Anna ;

Miralles, Francesc ;

Jose Baiges, Juan ;

Malfatti, Edoardo ;

Romero, Norma B. ;

Streichenberger, Nathalie ;

Via, Christophe ;

Claeys, Kristl G. ;

Straathof, Chiara S. M. ;

Goris, An ;

Freyer, Christoph ;

Lammens, Martin ;

Bassez, Guillaume ;

Kere, Juha ;

Clemente, Paula ;

Sejersen, Thomas ;

Udd, Bjarne ;

Vidal, Noemi ;

Ferrer, Isidre ;

Edstrom, Lars ;

Wedell, Anna ;

Laing, Nigel G. .

NATURE COMMUNICATIONS, 2019, 10 (1)

[8] 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report [J].

Smedley, Damian ;

Smith, Katherine R. ;

Martin, Antonio ;

Thomas, Ellen A. ;

McDonagh, Ellen M. ;

Cipriani, Valentina ;

Ellingford, Jamie M. ;

Arno, Gavin ;

Tucci, Arianna ;

Vandrovcova, Jana ;

Chan, Georgia ;

Williams, Hywel J. ;

Ratnaike, Thiloka ;

Wei, Wei ;

Stirrups, Kathleen ;

Ibanez, Kristina ;

Moutsianas, Loukas ;

Wielscher, Matthias ;

Need, Anna ;

Barnes, Michael R. ;

Vestito, Letizia ;

Buchanan, James ;

Wordsworth, Sarah ;

Ashford, Sofie ;

Rehmstrom, Karola ;

Li, Emily ;

Fuller, Gavin ;

Twiss, Philip ;

Spasic-Boskovic, Olivera ;

Halsall, Sally ;

Floto, R. Andres ;

Poole, Kenneth ;

Wagner, Annette ;

Mehta, Sarju G. ;

Gurnell, Mark ;

Burrows, Nigel ;

James, Roger ;

Penkett, Christopher ;

Dewhurst, Eleanor ;

Graf, Stefan ;

Mapeta, Rutendo ;

Kasanicki, Mary ;

Haworth, Andrea ;

Savage, Helen ;

Babcock, Melanie ;

Reese, Martin G. ;

Bale, Mark ;

Baple, Emma ;

Boustred, Christopher ;

Brittain, Helen .

NEW ENGLAND JOURNAL OF MEDICINE, 2021, 385 (20) :1868-1880

[9] Trailblazing precision medicine in Europe: A joint view by Genomic Medicine Sweden and the Centers for Personalized Medicine, ZPM, in Germany [J].

Stenzinger, Albrecht ;

Edsjoe, Anders ;

Ploeger, Carolin ;

Friedman, Mikaela ;

Frohling, Stefan ;

Wirta, Valtteri ;

Seufferlein, Thomas ;

Botling, Johan ;

Duyster, Justus ;

Akhras, Michael ;

Thimme, Robert ;

Fioretos, Thoas ;

Bitzer, Michael ;

Cavelier, Lucia ;

Schirmacher, Peter ;

Malek, Nisar ;

Rosenquist, Richard .

SEMINARS IN CANCER BIOLOGY, 2022, 84 :242-254

[10] Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients [J].

Stranneheim, Henrik ;

Lagerstedt-Robinson, Kristina ;

Magnusson, Mans ;

Kvarnung, Malin ;

Nilsson, Daniel ;

Lesko, Nicole ;

Engvall, Martin ;

Anderlid, Britt-Marie ;

Arnell, Henrik ;

Johansson, Carolina Backman ;

Barbaro, Michela ;

Bjorck, Erik ;

Bruhn, Helene ;

Eisfeldt, Jesper ;

Freyer, Christoph ;

Grigelioniene, Giedre ;

Gustavsson, Peter ;

Hammarsjo, Anna ;

Hellstrom-Pigg, Maritta ;

Iwarsson, Erik ;

Jemt, Anders ;

Laaksonen, Mikael ;

Enoksson, Sara Lind ;

Malmgren, Helena ;

Naess, Karin ;

Nordenskjold, Magnus ;

Oscarson, Mikael ;

Pettersson, Maria ;

Rasi, Chiara ;

Rosenbaum, Adam ;

Sahlin, Ellika ;

Sardh, Eliane ;

Stodberg, Tommy ;

Tesi, Bianca ;

Tham, Emma ;

Thonberg, Hakan ;

Tohonen, Virpi ;

von Dobeln, Ulrika ;

Vassiliou, Daphne ;

Vonlanthen, Sofie ;

Wikstrom, Ann-Charlotte ;

Wincent, Josephine ;

Winqvist, Ola ;

Wredenberg, Anna ;

Ygberg, Sofia ;

Zetterstrom, Rolf H. ;

Marits, Per ;

Soller, Maria Johansson ;

Nordgren, Ann ;

Wirta, Valtteri .

GENOME MEDICINE, 2021, 13 (01)

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