PMID- 28488681
OWN - NLM
STAT- MEDLINE
DCOM- 20170928
LR  - 20181202
IS  - 1476-5438 (Electronic)
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 25
IP  - 7
DP  - 2017 Jun
TI  - Practices and views of neurologists regarding the use of whole-genome sequencing 
      in clinical settings: a web-based survey.
PG  - 801-808
LID - 10.1038/ejhg.2017.64 [doi]
AB  - The use of Whole-Genome Sequencing (WGS) in clinical settings has brought up a 
      number of controversial scientific and ethical issues. The application of WGS is 
      of particular relevance in neurology, as many conditions are difficult to 
      diagnose. We conducted a worldwide, web-based survey to explore neurologists' 
      views on the benefits of, and concerns regarding, the clinical use of WGS, as 
      well as the resources necessary to implement it. Almost half of the 204 
      neurologists in the study treated mostly adult patients (48%), while the rest 
      mainly children (37.3%), or both (14.7%). Epilepsy (73%) and headaches (57.8%) 
      were the predominant conditions treated. Factor analysis brought out two 
      profiles: neurologists who would offer WGS to their patients, and those who would 
      not, or were not sure in which circumstances it should be offered. Neurologists 
      considering the use of WGS as bringing more benefits than drawbacks currently 
      used targeted genetic testing (P<0.05) or treated mainly children (P<0.05). WGS' 
      benefits were directed towards the patients, while its risks were of a financial 
      and legal nature. Furthermore, there was a correlation between respondents' 
      current use of genetic tests and an anticipation of increased use in the future 
      (P<0.001). However, over half of respondents did not feel sufficiently informed 
      to use WGS in their practice (53.5%). Our results highlight gaps in education, 
      organization, and funding to support the use of WGS in neurology, and draw 
      attention to the need for resources that could strongly contribute to more 
      straightforward diagnoses and possibly better treatment of neurological 
      conditions.
FAU - Jaitovich Groisman, Iris
AU  - Jaitovich Groisman I
AD  - Groupe de recherche Omics-Ethics, Institut de recherche en sante publique, 
      Universite de Montreal, Montreal, Quebec, Canada.
FAU - Hurlimann, Thierry
AU  - Hurlimann T
AD  - Groupe de recherche Omics-Ethics, Institut de recherche en sante publique, 
      Universite de Montreal, Montreal, Quebec, Canada.
FAU - Shoham, Amir
AU  - Shoham A
AD  - Departement de psychologie, Faculte des arts et des sciences, Universite de 
      Montreal, Montreal, Quebec, Canada.
FAU - Godard, Beatrice
AU  - Godard B
AD  - Groupe de recherche Omics-Ethics, Institut de recherche en sante publique, 
      Universite de Montreal, Montreal, Quebec, Canada.
LA  - eng
GR  - CIHR/Canada
PT  - Journal Article
DEP - 20170510
PL  - England
TA  - Eur J Hum Genet
JT  - European journal of human genetics : EJHG
JID - 9302235
SB  - IM
MH  - Adult
MH  - Female
MH  - Genetic Testing/*statistics & numerical data
MH  - *Genome, Human
MH  - *Health Knowledge, Attitudes, Practice
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Nervous System Diseases/diagnosis/*genetics
MH  - Neurologists/education/*psychology
MH  - Sequence Analysis, DNA/statistics & numerical data
PMC - PMC5520076
COIS- The authors declare no conflict of interest.
EDAT- 2017/05/11 06:00
MHDA- 2017/09/29 06:00
PMCR- 2018/07/01
CRDT- 2017/05/11 06:00
PHST- 2016/11/15 00:00 [received]
PHST- 2017/02/28 00:00 [revised]
PHST- 2017/03/28 00:00 [accepted]
PHST- 2017/05/11 06:00 [pubmed]
PHST- 2017/09/29 06:00 [medline]
PHST- 2017/05/11 06:00 [entrez]
PHST- 2018/07/01 00:00 [pmc-release]
AID - ejhg201764 [pii]
AID - 10.1038/ejhg.2017.64 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 2017 Jun;25(7):801-808. doi: 10.1038/ejhg.2017.64. Epub 2017 May 
      10.