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

Domínguez‐Carral, Jana; Pisón, J. López; Macaya, Alfons; Campaña, Mercedes Bueno; Garcı́a-Pérez, Miguel A.; Benito, Daniel Natera-de

doi:10.1016/j.ejmg.2016.11.007

Cited by 12 publications

(12 citation statements)

References 15 publications

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“…Yoshida et al 31 showed that neurologists in Japan are likely to conduct genetic testing based on the characteristics of the diseases, and the circumstances surrounding their patients and families. Our results are concordant with those of Salm et al and Dominguez-Carral et al 32,33 In Salm's study, US neurologists and psychiatrists reported deficits in their knowledge of genetics as applied to their medical practice, and a lack of access to genetic counselors or geneticists to whom they could refer their patients. 32 Dominguez-Carral et al, 33 in a recent survey conducted among child neurologists in Spain, also highlight the need these professionals have for continuing education programs and support from geneticists.…”

Section: Discussionsupporting

confidence: 91%

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

et al. 2017

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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.

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Section: Discussionsupporting

confidence: 91%

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

et al. 2017

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“…The finding that genetic specialists most commonly ordered diagnostic testing suggests that some of the diagnostic delay could be in the time to be referred to and be seen by a geneticist. Genetics referrals could also indicate unfamiliarity among other specialities with directly ordering genetic tests [Dominguez-Carral et al, 2017; Haga et al, 2013; Press et al, 2016; Salm et al, 2014], even though access to genetic testing for 22q11.2 deletions by licensed physicians in Ontario is universal. In many jurisdictions, insurance and other barriers, including additional forms and requirements, may limit genetic test capabilities and uptake.…”

Section: Discussionmentioning

confidence: 99%

“…Genetics referrals could also indicate unfamiliarity among other specialties with directly ordering genetic tests (Dominguez-Carral et al, 2017;Haga, Burke, & Agans, 2013;Press, Wieczorek, Hoover-Fong, Bodurtha, & Taylor, 2016;Salm et al, 2014), even though access to genetic testing for 22q11.2 deletions by licensed physicians in Ontario is universal. In many jurisdictions, insurance and other barriers, including additional forms and requirements, may limit genetic test capabilities and uptake.…”

Section: Discussionmentioning

confidence: 99%

Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome

Palmer

Butcher

Boot

et al. 2018

American J of Med Genetics Pt A

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Clinical molecular testing has been available for 22q11.2 deletion syndrome (22q11.2DS) for over two decades yet under-recognition and diagnostic delays are common. To characterize the "diagnostic odyssey" in 22q11.2DS we studied 202 well-characterized unrelated adults, none ascertained through an affected relative. We used a regression model to identify clinical and demographic factors associated with length of time to molecular diagnosis. Kaplan-Meier analysis compared time to diagnosis for the molecular testing era (since 1994) and earlier birth cohorts. The results showed that the median time to molecular diagnosis of the 22q11.2 deletion was 4.7 (range 0-20.7) years. Palatal and cardiac anomalies, but not developmental delay/intellectual disability, were associated with a shorter time to molecular diagnosis. Non-European ethnicity was associated with longer time to diagnosis. Inclusion of a cohort from another 22q11.2DS center increased power to observe a significantly earlier diagnosis for patients born in the molecular testing era. Nonetheless, only a minority were diagnosed in the first year of life. On average, patients were seen in seven (range 2-15) different clinical specialty areas prior to molecular diagnosis. The findings indicate that even for those born in the molecular testing era, individuals with 22q11.2DS and their families face a diagnostic odyssey that is often prolonged, particularly in the absence of typical physical congenital features or for those of non-European ancestry. The results support educational efforts to improve clinical recognition and testing, and ultimately newborn screening as a means of maximizing early detection that would provide the best opportunity to optimize outcomes.

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“…In addition to the complexities surrounding the offer of testing, challenges also exist with clinician interpretation of ALS genetic test results. Evidence suggests that many neurologists have a need for support in understanding genetic testing results (8,9). The high VUS rate on ALS multigene panel tests is a particularly acute challenge (10); although rare variant burden may play a role in the etiology of ALS (11), caution must be used in the approach to VUS in the clinical setting.…”

Section: Discussionmentioning

confidence: 99%

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

Klepek

Nagaraja

Goutman

et al. 2019

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

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Recent advances in ALS gene discovery have both empowered and challenged clinicians providing evaluation and care for persons with ALS, many of whom seek an answer as to the cause of their condition. In order to study clinician practices and attitudes towards genetic testing, we surveyed members of the Northeast ALS Consortium, an international group of specialist ALS clinicians; responses were received from 80/255 (response rate = 31.4%). While 92.3% indicated they offered genetic testing to patients with familial ALS, 57.0% offered testing to patients with ALS and a family history of dementia, and 36.9% offered testing to patients with sporadic ALS, revealing a lack of consensus with respect to the approach to the typical ALS patient encountered in clinical practice. In addition, comparison of clinician and patient attitudes towards genetic testing revealed that clinicians valued the scientific potential of testing, but were less likely to say they would have testing themselves, or to see the value in testing for family members. People with ALS were more likely to see value of testing for themselves and for family members, and less likely to strongly value the scientific potential of testing.

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

Cited by 12 publications

References 15 publications

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

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

Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome

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

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