scholarly journals Genetic Testing Practices of Genetic Counselors, Geneticists, and Pediatric Neurologists With Regard to Childhood-Onset Neurogenetic Conditions

2019 ◽  
Vol 34 (4) ◽  
pp. 177-183 ◽  
Author(s):  
Sara Wofford ◽  
Sarah Noblin ◽  
Jessica M Davis ◽  
Laura S Farach ◽  
S Shahrukh Hashmi ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Autism Spectrum ◽  
Further Education ◽  
Genetic Counselors ◽  
Childhood Onset ◽  
Testing Strategies ◽  
Lower Confidence ◽  
Hereditary Component ◽  
Testing Practices ◽  
Genetic Testing Guidelines

Identifying genetic diagnoses for neurologic conditions with a considerable hereditary component, such as autism spectrum disorder, intellectual disability, and epilepsy, is critical to providing proper medical management for patients and their families. However, many patients with these conditions are not tested appropriately or receive no genetic testing at all. The current study was designed to characterize the genetic testing practices of the providers most likely to evaluate or order genetic testing for these patients: pediatric neurologists, geneticists, and genetic counselors. Significant variance was present between testing strategies selected by pediatric neurologists and those by geneticists and genetic counselors, supporting the need for updated genetic testing guidelines that are consistent across specialties. Pediatric neurologists also report lower confidence in ordering genetic testing and desire further education regarding genetic testing. Together, these results propose that continued integration of genetics providers, such as genetic counselors, into pediatric neurology clinics may improve utilization of genetic testing while reducing the burden on pediatric neurologists.

Status of BRCA1/2 Genetic Testing Practices in Korea (2014)

2018 ◽  
Vol 8 (3) ◽  
pp. 107 ◽  
Author(s):  
Kyungju Lee ◽  
Ja-Hyun Jang ◽  
Seung-Tae Lee ◽  
Kyong-Ah Yoon ◽  
Eun Sook Lee ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Testing Practices

scholarly journals How do non-geneticist physicians deal with genetic tests? A qualitative analysis

2021 ◽  
Author(s):  
Laurent Pasquier ◽  
Guy Minguet ◽  
Sylvie Moisdon-Chataigner ◽  
Pascal Jarno ◽  
Philippe Denizeau ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Social Issues ◽  
Clinical Skills ◽  
Rapid Development ◽  
Genomic Medicine ◽  
Genetic Tests ◽  
Simple Fact ◽  
Medical Specialties ◽  
Management Procedure ◽  
Testing Practices

AbstractGenetic testing is accepted to be a common practice in many medical specialties. These genetic tests raise issues such as respect for basic rights, how to handle results and uncertainty and how to balance concerns for medical confidentiality with the rights of third parties. Physicians need help to deal with the rapid development of genomic medicine as most of them have received no specific training on the medical, ethical, and social issues involved. Analyzing how these professionals integrate genetic testing into the patient-provider relationship is essential to paving the way for a better use of genomics by all. We conducted a qualitative study comprising a series of focus groups with 21 neurologists and endocrinologists about their genetic testing practices in the western part of France. The interviews were transcribed and analyzed for major themes. We identified an automated care management procedure of genetic testing that affects patient autonomy. The simple fact of having a written consent cannot justify a genetic test given the stakes associated with the results. We also suggest orienting practices toward a systemic approach using a multidisciplinary team or network to provide resources for dealing with uncertainties in interpreting results or situations that require additional technical or clinical skills and, if necessary, to allow for joint consultations with both a geneticist and a non-geneticist medical specialist.

Awareness and perception of medical genetic services among Malaysian parents of autism spectrum disorders children: the lessons to be learned

2021 ◽  
Vol ahead-of-print (ahead-of-print) ◽  
Author(s):  
Farahnaz Amini ◽  
Kok Wah Yee ◽  
Siew Chin Soh ◽  
Abdulateef Alhadeethi ◽  
Roya Amini ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Health Care Providers ◽  
Nuclear Family ◽  
Autism Spectrum ◽  
Genetic Services ◽  
Care Providers ◽  
Medical Genetic ◽  
Content Type ◽  
Children With Asd ◽  
Medical Genetic Services

Purpose Autism spectrum disorder (ASD) is a group of complex neurodevelopmental disorders with uncertain etiology. Evidence shows that genetic testing can explain about 20% of cases. This study aims to assess the level of awareness and perception of medical genetic services among Malaysian parents with ASD children. Design/methodology/approach A cross-sectional survey using an interviewer-administered questionnaire was done among 111 parents of children with ASD from August 2017 to September 2019 in two clinics in Malaysia. Findings A majority of children with ASD (80.20%) were male and diagnosed at the age of 3–4 years old (47.80%). When the autistic child was born, most mothers and fathers were aged 26–30 (40.50%) and 31–35 years old (42.30%), respectively. Another child with ASD in nuclear and extended families was reported for 11.70% and 13.50%, respectively. Only 24.30% have seen a professional genetic consultant, and 19.8% have done genetic testing for affected children. The mean score of awareness of genetic services for ASD was 2.48 ± 3.30. Having medical insurance and another child with ASD in the nuclear family was significantly associated with a higher level of awareness (p = 0.01 and p < 0.001, respectively). Most of the participants have a positive perception of these services. Originality/value Regardless of demographic factors, participants have poor awareness of genetic services for ASD, likely because the primary physician did not recommend it upon diagnosis. Increasing health-care providers’ knowledge about the current potential of genetic testing for ASD and educational campaigns for the public are critical components of using available genetic tests to improve ASD management.

scholarly journals Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls

2019 ◽  
Vol 112 (4) ◽  
pp. 369-376 ◽  
Author(s):  
Yukihide Momozawa ◽  
Yusuke Iwasaki ◽  
Makoto Hirata ◽  
Xiaoxi Liu ◽  
Yoichiro Kamatani ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Genetic Testing ◽  
Clinical Characteristics ◽  
Statistical Tests ◽  
Japanese Patients ◽  
Pathogenic Variants ◽  
Liver Cancers ◽  
Genetics And Genomics ◽  
Genetic Testing Guidelines ◽  
And Control

AbstractBackgroundGenetic testing has been conducted in patients with prostate cancer (PCa) using multigene panels, but no centralized guidelines for genetic testing exist. To overcome this limitation, we investigated the demographic and clinical characteristics of patients with pathogenic variants.MethodsWe sequenced eight genes associated with hereditary PCa in 7636 unselected Japanese patients with PCa and 12 366 male, cancer-free control individuals. We assigned clinical significance for all 1456 variants using the American College of Medical Genetics and Genomics guidelines and ClinVar. We compared the frequency of carriers bearing pathogenic variants between cases and control participants with calculated PCa risk in each gene and documented the demographic and clinical characteristics of patients bearing pathogenic variants. All statistical tests were two-sided.ResultsWe identified 136 pathogenic variants, and 2.9% of patients and 0.8% of control individuals had a pathogenic variant. Association with PCa risk was statistically significant for variants in BRCA2 (P &lt; .001, odds ratio [OR] = 5.65, 95% confidence interval [CI] = 3.55 to 9.32), HOXB13 (P &lt; .001, OR = 4.73, 95% CI = 2.84 to 8.19), and ATM (P &lt; .001, OR = 2.86, 95% CI = 1.63 to 5.15). We detected recurrent new pathogenic variants such as p.Gly132Glu of HOXB13. Patients with pathogenic variants were 2.0 years younger at diagnosis and more often had smoking and alcohol drinking histories as well as family histories of breast, pancreatic, lung, and liver cancers.ConclusionsThis largest sequencing study of PCa heredity provides additional evidence supporting the latest consensus among clinicians for developing genetic testing guidelines for PCa.

Autism Spectrum Disorder and Genetic Testing: Parents’ Attitudes-Data from Turkish Sample

2020 ◽  
Author(s):  
Aynur Bütün Ayhan ◽  
Utku Beyazıt ◽  
Şenay Topuz ◽  
Çağla Zeynep Tunay ◽  
Maryam Nazhad Abbas ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Genetic Testing ◽  
Autism Spectrum ◽  
Spectrum Disorder

scholarly journals Implementation of a Renal Precision Medicine Program: Clinician Attitudes and Acceptance

Life ◽  
2020 ◽  
Vol 10 (4) ◽  
pp. 32
Author(s):  
Katherine M. Spiech ◽  
Purnima R. Tripathy ◽  
Alex M. Woodcock ◽  
Nehal A. Sheth ◽  
Kimberly S. Collins ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Clinical Care ◽  
Further Education ◽  
Supporting Evidence ◽  
Health Initiative ◽  
Knowledge And Attitude ◽  
Antihypertensive Response ◽  
Clinician Attitudes ◽  
Precision Health ◽  
Strong Agreement

A precision health initiative was implemented across a multi-hospital health system, wherein a panel of genetic variants was tested and utilized in the clinical care of chronic kidney disease (CKD) patients. Pharmacogenomic predictors of antihypertensive response and genomic predictors of CKD were provided to clinicians caring for nephrology patients. To assess clinician knowledge, attitudes, and willingness to act on genetic testing results, a Likert-scale survey was sent to and self-administered by these nephrology providers (N = 76). Most respondents agreed that utilizing pharmacogenomic-guided antihypertensive prescribing is valuable (4.0 ± 0.7 on a scale of 1 to 5, where 5 indicates strong agreement). However, the respondents also expressed reluctance to use genetic testing for CKD risk stratification due to a perceived lack of supporting evidence (3.2 ± 0.9). Exploratory sub-group analyses associated this reluctance with negative responses to both knowledge and attitude discipline questions, thus suggesting reduced exposure to and comfort with genetic information. Given the evolving nature of genomic implementation in clinical care, further education is warranted to help overcome these perception barriers.

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