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.

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.

scholarly journals Global approaches to postmortem genetic testing after sudden cardiac death in the young: A survey among healthcare professionals

2020 ◽  
Author(s):  
Lieke M. van den Heuvel ◽  
Judy Do ◽  
Laura Yeates ◽  
Heather MacLeod ◽  
Cynthia A. James ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Sudden Cardiac Death ◽  
Cardiac Death ◽  
Healthcare Professionals ◽  
Professional Associations ◽  
Financial Resources ◽  
Multidisciplinary Teams ◽  
Testing Practices ◽  
Postmortem Genetic Testing

ABSTRACTPurposeThorough investigation of sudden cardiac death (SCD) in those aged 1-40 years commonly reveals a heritable cause, yet access to postmortem genetic testing is variable. We explore practices of postmortem genetic testing and attitudes of healthcare professionals worldwide.MethodsA survey was administered among healthcare professionals recruited through professional associations, social media and networks of researchers. Topics included practices around postmortem genetic testing, level of confidence in healthcare professionals’ ability, and attitudes towards postmortem genetic testing practices.ResultsThere were 112 respondents, with 93% from North America, Europe and Australia and 7% from South America, Asia and Africa. Only 30% reported autopsy as mandatory, and overall practices were largely case-by-case and not standardised. North American respondents (87%) more often perceived practices as ineffective compared to those from Europe (58%) and Australia/New Zealand (48%, p=0.002). Where a heritable cause is suspected, 69% considered postmortem genetic testing and 61% offered genetic counseling to surviving family members; financial resources varied widely. Half believed practices in their countries perpetuated health inequalities.ConclusionPostmortem genetic testing is not consistently available in the investigation of young SCD despite being a recommendation in international guidelines. Access to postmortem genetic testing, guided by well-resourced multidisciplinary teams, is critical in ascertaining a cause of death in many cases.

scholarly journals Preimplantation genetic testing practices in the Nordic countries

2020 ◽  
Vol 99 (6) ◽  
pp. 707-715 ◽  
Author(s):  
Julius Hreinsson ◽  
Erik Iwarsson ◽  
Charles Hanson ◽  
Marie Louise Grøndahl ◽  
Kristine Løssl ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Nordic Countries ◽  
Preimplantation Genetic Testing ◽  
Testing Practices

scholarly journals A theory-informed systematic review of clinicians’ genetic testing practices

2018 ◽  
Vol 26 (10) ◽  
pp. 1401-1416 ◽  
Author(s):  
Jean L. Paul ◽  
Hanna Leslie ◽  
Alison H. Trainer ◽  
Clara Gaff
Keyword(s):  
Systematic Review ◽  
Genetic Testing ◽  
Testing Practices

FDA Approval of PARP Inhibitors and the Impact on Genetic Counseling and Genetic Testing Practices

2017 ◽  
Vol 27 (1) ◽  
pp. 131-139 ◽  
Author(s):  
Kathryn M. Buchtel ◽  
Kristen J. Vogel Postula ◽  
Shelly Weiss ◽  
Carmen Williams ◽  
Mario Pineda ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Parp Inhibitors ◽  
Fda Approval ◽  
Testing Practices ◽  
The Impact

Genetic Testing Practices in Infants with Congenital Heart Disease

2013 ◽  
Vol 9 (2) ◽  
pp. 158-167 ◽  
Author(s):  
Jessica A. Connor ◽  
Robert B. Hinton ◽  
Erin M. Miller ◽  
Kristen L. Sund ◽  
Jennifer G. Ruschman ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Genetic Testing ◽  
Congenital Heart ◽  
Testing Practices

Pharmacogenomic testing and prescribing patterns for patients with cancer in a large national precision medicine cohort

2021 ◽  
pp. jmedgenet-2021-108112
Author(s):  
Jay G Ronquillo ◽  
William T Lester
Keyword(s):  
Genetic Testing ◽  
Observational Study ◽  
Precision Medicine ◽  
Standard Of Care ◽  
National Institutes Of Health ◽  
Prescribing Patterns ◽  
Age Group ◽  
Patients With Cancer ◽  
Testing Practices ◽  
Population Databases

Population databases could help patients with cancer and providers better understand current pharmacogenomic prescribing and testing practices. This retrospective observational study analysed patients with cancer, drugs with pharmacogenomic evidence and related genetic testing in the National Institutes of Health All of Us database. Most patients with cancer (19 633 (88.3%) vs 2590 (11.7%)) received ≥1 drug and 36 (0.2%) received genetic testing, with a significant association between receiving ≥1 drug and age group (p<0.001), but not sex (p=0.612), race (p=0.232) or ethnicity (p=0.971). Drugs with pharmacogenomic evidence—but not genetic testing—were common for patients with cancer, reflecting key gaps preventing precision medicine from becoming standard of care.

scholarly journals Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study

2021 ◽  
Author(s):  
Stephanie M. Ware ◽  
James D. Wilkinson ◽  
Muhammad Tariq ◽  
Jeffrey A. Schubert ◽  
Arthi Sridhar ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Family History ◽  
Clinical Testing ◽  
Clinical Genetic ◽  
Clinical Genetic Testing ◽  
Idiopathic Cardiomyopathy ◽  
Pediatric Cardiomyopathy ◽  
Testing Practices ◽  
Practice Variations ◽  
Made In

Background Pediatric cardiomyopathy is a genetically heterogeneous disease with substantial morbidity and mortality. Current guidelines recommend genetic testing in children with hypertrophic, dilated, or restrictive cardiomyopathy, but practice variations exist. Robust data on clinical testing practices and diagnostic yield in children are lacking. This study aimed to identify the genetic causes of cardiomyopathy in children and to investigate clinical genetic testing practices. Methods and Results Children with familial or idiopathic cardiomyopathy were enrolled from 14 institutions in North America. Probands underwent exome sequencing. Rare sequence variants in 37 known cardiomyopathy genes were assessed for pathogenicity using consensus clinical interpretation guidelines. Of the 152 enrolled probands, 41% had a family history of cardiomyopathy. Of 81 (53%) who had undergone clinical genetic testing for cardiomyopathy before enrollment, 39 (48%) had a positive result. Genetic testing rates varied from 0% to 97% between sites. A positive family history and hypertrophic cardiomyopathy subtype were associated with increased likelihood of genetic testing ( P =0.005 and P =0.03, respectively). A molecular cause was identified in an additional 21% of the 63 children who did not undergo clinical testing, with positive results identified in both familial and idiopathic cases and across all phenotypic subtypes. Conclusions A definitive molecular genetic diagnosis can be made in a substantial proportion of children for whom the cause and heritable nature of their cardiomyopathy was previously unknown. Practice variations in genetic testing are great and should be reduced. Improvements can be made in comprehensive cardiac screening and predictive genetic testing in first‐degree relatives. Overall, our results support use of routine genetic testing in cases of both familial and idiopathic cardiomyopathy. Registration URL: https://www.clinicaltrials.gov ; Unique identifier: NCT01873963.

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

2019 ◽  
Vol 20 (3-4) ◽  
pp. 216-221 ◽  
Author(s):  
Holly Klepek ◽  
Haikady Nagaraja ◽  
Stephen A. Goutman ◽  
Adam Quick ◽  
Stephen J. Kolb ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Testing Practices
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