Literature DB >> 27890788

Genetic testing among Spanish pediatric neurologists: Knowledge, attitudes and practices.

J Domínguez-Carral1, J López-Pisón2, A Macaya3, M Bueno Campaña4, M A García-Pérez4, D Natera-de Benito5.   

Abstract

Advances in genetic testing applied to child neurology have enabled the development of genetic tests with greater sensitivity in elucidating an etiologic diagnosis for common neurological conditions. The objective of the current study was to examine child neurologists' perspectives and insights into genetic testing. We surveyed 118 Spanish child neurologists, exploring their knowledge, attitudes, and practices concerning genetic tests. All of them had requested at least one genetic test in the past six months. Global developmental delay or intellectual disability in absence of a strong specific etiologic suspicion and autism spectrum disorders were the disorders for which genetic testing was most frequently requested. The most commonly requested genetic test was CGH-array. Overall, child neurologist perception of readiness for making genetic-related decisions was not bad, although many would like to have a greater support from geneticists and were interested in increasing the time dedicated to genetics within their continuing education program. These data have important implications for future practice, research, and education.
Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Entities:  

Keywords:  Etiology; Genetic counseling; Genetic testing; Intellectual disability; Medical education; Pediatric neurology

Mesh:

Year:  2016        PMID: 27890788     DOI: 10.1016/j.ejmg.2016.11.007

Source DB:  PubMed          Journal:  Eur J Med Genet        ISSN: 1769-7212            Impact factor:   2.708


  8 in total

1.  Lack of consensus in ALS genetic testing practices and divergent views between ALS clinicians and patients.

Authors:  Holly Klepek; Haikady Nagaraja; Stephen A Goutman; Adam Quick; Stephen J Kolb; Jennifer Roggenbuck
Journal:  Amyotroph Lateral Scler Frontotemporal Degener       Date:  2019-04-01       Impact factor: 4.092

2.  Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome.

Authors:  Lisa D Palmer; Nancy J Butcher; Erik Boot; Kathleen A Hodgkinson; Tracy Heung; Eva W C Chow; Alina Guna; T Blaine Crowley; Elaine Zackai; Donna M McDonald-McGinn; Anne S Bassett
Journal:  Am J Med Genet A       Date:  2018-04       Impact factor: 2.802

3.  Practices and views of neurologists regarding the use of whole-genome sequencing in clinical settings: a web-based survey.

Authors:  Iris Jaitovich Groisman; Thierry Hurlimann; Amir Shoham; Béatrice Godard
Journal:  Eur J Hum Genet       Date:  2017-05-10       Impact factor: 4.246

4.  Differences in attitudes toward genetic testing among the public, patients, and health-care professionals in Korea.

Authors:  Heesang Eum; Mangyeong Lee; Junghee Yoon; Juhee Cho; Eun Sook Lee; Kui Son Choi; Sangwon Lee; So-Youn Jung; Myong Cheol Lim; Sun-Young Kong; Yoon Jung Chang
Journal:  Eur J Hum Genet       Date:  2018-06-18       Impact factor: 4.246

5.  Investigating the role of genetic counseling in neuromuscular disease considering life events.

Authors:  Yuka Shibata; Ichiro Yabe; Masaaki Matsushima; Naoki Hashimoto; Takahiro Yamada; Hidenao Sasaki
Journal:  J Hum Genet       Date:  2019-03-13       Impact factor: 3.172

Review 6.  Preparing Medical Specialists to Practice Genomic Medicine: Education an Essential Part of a Broader Strategy.

Authors:  Erin Crellin; Belinda McClaren; Amy Nisselle; Stephanie Best; Clara Gaff; Sylvia Metcalfe
Journal:  Front Genet       Date:  2019-09-11       Impact factor: 4.599

7.  Parental genetic knowledge and attitudes toward childhood genetic testing for inherited eye diseases.

Authors:  Yu Zhang; Sijian Huang; Huiming Xiao; Xiaoyan Ding
Journal:  Mol Genet Genomic Med       Date:  2020-07-13       Impact factor: 2.183

8.  In Their Own Words: A Qualitative Study of Kenyan Breast Cancer Survivors' Knowledge, Experiences, and Attitudes Regarding Breast Cancer Genetics.

Authors:  Siwon Lee; Amal Gedleh; Jessica A Hill; Seemi Qaiser; Yvonne Umukunda; Philip Odiyo; Grace Kitonyi; Helen Dimaras
Journal:  J Glob Oncol       Date:  2017-12-04
  8 in total

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