Literature DB >> 33704686

Clinical genetics in transition-a comparison of genetic services in Estonia, Finland, and the Netherlands.

T Vrijenhoek1, N Tonisson2,3, H Kääriäinen4, L Leitsalu2, T Rigter5.   

Abstract

Genetics has traditionally enabled the reliable diagnosis of patients with rare genetic disorders, thus empowering the key role of today's clinical geneticists in providing healthcare. With the many novel technologies that have expanded the genetic toolkit, genetics is increasingly evolving beyond rare disease diagnostics. When placed in a transition context-like we do here-clinical genetics is likely to become a fully integral part of future healthcare and clinical genetic expertise will be required increasingly outside traditional clinical genetic settings. We explore transition effects on the thinking (culture), organizing (structure), and performing (practice) in clinical genetics, taking genetic healthcare in Estonia, Finland, and the Netherlands as examples. Despite clearly distinct healthcare histories, all three countries have initially implemented genetic healthcare in a rather similar fashion: as a diagnostic tool for predominantly rare congenital diseases, with clinical geneticists as the main providers. Dynamics at different levels, such as emerging technologies, biobanks and data infrastructure, and legislative frameworks, may require development of a new system attuned with the demands and (historic) context of specific countries. Here, we provide an overview of genetic service provisions in Estonia, Finland, and the Netherlands to consider the impact of historic and recent events on prospective developments in genetic healthcare.

Entities:  

Year:  2021        PMID: 33704686      PMCID: PMC7948164          DOI: 10.1007/s12687-021-00514-7

Source DB:  PubMed          Journal:  J Community Genet        ISSN: 1868-310X


  38 in total

1.  Preimplantation genetic diagnosis (PGD), a collaborative activity of clinical genetic departments and IVF centres.

Authors:  J P Geraedts; J Harper; P Braude; K Sermon; A Veiga; L Gianaroli; N Agan; S Munné; S Gitlin; E Blenow; K de Boer; N Hussey; J Traeger-Synodinos; S H Lee; S Viville; L Krey; P Ray; S Emiliani; Y H Liu; S Vermeulen; E Kanavakis
Journal:  Prenat Diagn       Date:  2001-12       Impact factor: 3.050

2.  Legislation on direct-to-consumer genetic testing in seven European countries.

Authors:  Pascal Borry; Rachel E van Hellemondt; Dominique Sprumont; Camilla Fittipaldi Duarte Jales; Emmanuelle Rial-Sebbag; Tade Matthias Spranger; Liam Curren; Jane Kaye; Herman Nys; Heidi Howard
Journal:  Eur J Hum Genet       Date:  2012-01-25       Impact factor: 4.246

3.  Genome sequencing identifies major causes of severe intellectual disability.

Authors:  Christian Gilissen; Jayne Y Hehir-Kwa; Djie Tjwan Thung; Maartje van de Vorst; Bregje W M van Bon; Marjolein H Willemsen; Michael Kwint; Irene M Janssen; Alexander Hoischen; Annette Schenck; Richard Leach; Robert Klein; Rick Tearle; Tan Bo; Rolph Pfundt; Helger G Yntema; Bert B A de Vries; Tjitske Kleefstra; Han G Brunner; Lisenka E L M Vissers; Joris A Veltman
Journal:  Nature       Date:  2014-06-04       Impact factor: 49.962

4.  Cohort Profile: The National FINRISK Study.

Authors:  Katja Borodulin; Hanna Tolonen; Pekka Jousilahti; Antti Jula; Anne Juolevi; Seppo Koskinen; Kari Kuulasmaa; Tiina Laatikainen; Satu Männistö; Markku Peltonen; Markus Perola; Pekka Puska; Veikko Salomaa; Jouko Sundvall; Suvi M Virtanen; Erkki Vartiainen
Journal:  Int J Epidemiol       Date:  2018-06-01       Impact factor: 7.196

5.  Carrier testing for severe childhood recessive diseases by next-generation sequencing.

Authors:  Callum J Bell; Darrell L Dinwiddie; Neil A Miller; Shannon L Hateley; Elena E Ganusova; Joann Mudge; Ray J Langley; Lu Zhang; Clarence C Lee; Faye D Schilkey; Vrunda Sheth; Jimmy E Woodward; Heather E Peckham; Gary P Schroth; Ryan W Kim; Stephen F Kingsmore
Journal:  Sci Transl Med       Date:  2011-01-12       Impact factor: 17.956

Review 6.  Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations.

Authors:  Annemieke Aartsma-Rus; Ivo Fokkema; Jan Verschuuren; Ieke Ginjaar; Judith van Deutekom; Gert-Jan van Ommen; Johan T den Dunnen
Journal:  Hum Mutat       Date:  2009-03       Impact factor: 4.878

7.  Population attitudes towards research use of health care registries: a population-based survey in Finland.

Authors:  Katariina Eloranta; Anssi Auvinen
Journal:  BMC Med Ethics       Date:  2015-07-17       Impact factor: 2.652

8.  Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia.

Authors:  Maris Alver; Marili Palover; Aet Saar; Kristi Läll; Seyedeh Maryam Zekavat; Neeme Tõnisson; Liis Leitsalu; Anu Reigo; Tiit Nikopensius; Tiia Ainla; Mart Kals; Reedik Mägi; Stacey B Gabriel; Jaan Eha; Eric S Lander; Alar Irs; Anthony Philippakis; Toomas Marandi; Pradeep Natarajan; Andres Metspalu; Sekar Kathiresan; Tõnu Esko
Journal:  Genet Med       Date:  2018-10-01       Impact factor: 8.822

9.  The Genome of the Netherlands: design, and project goals.

Authors:  Dorret I Boomsma; Cisca Wijmenga; Eline P Slagboom; Morris A Swertz; Lennart C Karssen; Abdel Abdellaoui; Kai Ye; Victor Guryev; Martijn Vermaat; Freerk van Dijk; Laurent C Francioli; Jouke Jan Hottenga; Jeroen F J Laros; Qibin Li; Yingrui Li; Hongzhi Cao; Ruoyan Chen; Yuanping Du; Ning Li; Sujie Cao; Jessica van Setten; Androniki Menelaou; Sara L Pulit; Jayne Y Hehir-Kwa; Marian Beekman; Clara C Elbers; Heorhiy Byelas; Anton J M de Craen; Patrick Deelen; Martijn Dijkstra; Johan T den Dunnen; Peter de Knijff; Jeanine Houwing-Duistermaat; Vyacheslav Koval; Karol Estrada; Albert Hofman; Alexandros Kanterakis; David van Enckevort; Hailiang Mai; Mathijs Kattenberg; Elisabeth M van Leeuwen; Pieter B T Neerincx; Ben Oostra; Fernanodo Rivadeneira; Eka H D Suchiman; Andre G Uitterlinden; Gonneke Willemsen; Bruce H Wolffenbuttel; Jun Wang; Paul I W de Bakker; Gert-Jan van Ommen; Cornelia M van Duijn
Journal:  Eur J Hum Genet       Date:  2013-05-29       Impact factor: 4.246

Review 10.  The Global State of the Genetic Counseling Profession.

Authors:  MaryAnn Abacan; Lamia Alsubaie; Kristine Barlow-Stewart; Beppy Caanen; Christophe Cordier; Eliza Courtney; Emeline Davoine; Janice Edwards; Niby J Elackatt; Kate Gardiner; Yue Guan; Lian-Hua Huang; Charlotta Ingvoldstad Malmgren; Sahil Kejriwal; Hyon J Kim; Deborah Lambert; Paulina Araceli Lantigua-Cruz; Juliana M H Lee; Marianne Lodahl; Åshild Lunde; Shelley Macaulay; Ivan Macciocca; Sonia Margarit; Anna Middleton; Ramona Moldovan; Joanne Ngeow; Alexandra J Obregon-Tito; Kelly E Ormond; Milena Paneque; Karen Powell; Kunal Sanghavi; Diana Scotcher; Jenna Scott; Clara Serra Juhé; Shiri Shkedi-Rafid; Tina-Marié Wessels; Sook-Yee Yoon; Catherine Wicklund
Journal:  Eur J Hum Genet       Date:  2018-10-05       Impact factor: 4.246

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  2 in total

1.  You Can't Have AI Both Ways: Balancing Health Data Privacy and Access Fairly.

Authors:  Marieke Bak; Vince Istvan Madai; Marie-Christine Fritzsche; Michaela Th Mayrhofer; Stuart McLennan
Journal:  Front Genet       Date:  2022-06-13       Impact factor: 4.772

2.  Designing rare disease care pathways in the Republic of Ireland: a co-operative model.

Authors:  A J Ward; D Murphy; R Marron; V McGrath; M Bolz-Johnson; W Cullen; A Daly; O Hardiman; A Lawlor; S A Lynch; M MacLachlan; J McBrien; S Ni Bhriain; J J O'Byrne; S M O'Connell; J Turner; E P Treacy
Journal:  Orphanet J Rare Dis       Date:  2022-04-11       Impact factor: 4.123

  2 in total

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