Zobrazeno 1 - 10 of 15 pro vyhledávání: '"Jessie H. Conta"'
1
Laboratory Stewardship for Clinical Genetic Testing
Autor: Jessie H. Conta
Publikováno v: Current Genetic Medicine Reports. 7:180-186
Genetic test stewardship programs are increasingly common within hospital and reference laboratories, as are genetic test optimization efforts by individual practitioners. Genetic counselors play a critical role in guiding providers to medically appr
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::897c22a7706666ee9328d530cd009bb7
https://doi.org/10.1007/s40142-019-00175-6
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2
Evaluation of Exome Sequencing Criteria for Hospital Stewardship and Insurance Authorization at a Pediatric Hospital
Autor: Jane A. Dickerson, Claire L. Wittowski, Daniel F. Gallego, Jessie H. Conta, Marie E Perrone, Sarah V. Clowes Candadai
Publikováno v: Archives of pathologylaboratory medicine. 146(1)
Context.— Genomic molecular testing practices in a pediatric tertiary care institution can vary in utility by patient indication. Objective.— To evaluate exome sequencing (ES) ordering practices and the effects of applying criteria to support ES
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf76555b20af282e8f8c7e25907782ef
https://pubmed.ncbi.nlm.nih.gov/33836053
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5
Single-nucleotide polymorphism arrays and unexpected consanguinity: considerations for clinicians when returning results to families
Autor: Holly K. Tabor, Anita E. Beck, Karen D. Tsuchiya, Kenneth W. Feldman, Jessie H. Conta, Fernanda Delgado, Penny Chow
Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics
The broad use of single-nucleotide polymorphism microarrays has increased identification of unexpected consanguinity. Therefore, guidelines to address reporting of consanguinity have been published for clinical laboratories. Because no such guideline
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3c30714b7ae74738967b511923f8e4c
https://doi.org/10.1038/gim.2014.119
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6
A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations
Autor: Thomas L. Winder, Jamie M. Eskuri, Jessie H. Conta, Kathleen Patterson, Stephanie E Wallace, Kevin P. Campbell, Steven A. Moore, Richard H. Haas, Tobias Willer, Sidney M. Gospe
Publikováno v: Neuromuscular Disorders. 24:312-320
Mutations in POMT1 lead to a group of neuromuscular conditions ranging in severity from Walker-Warburg syndrome to limb girdle muscular dystrophy. We report two male siblings, ages 19 and 14, and an unrelated 6-year old female with early onset muscul
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6b357d82751e9872eb74c166529741d
https://doi.org/10.1016/j.nmd.2014.01.001
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7
An Integrated Approach to Genetic Test Stewardship: The Role of Laboratory Genetic Counselors in Test Preauthorization and Ordering
Autor: Sarah V. Clowes Candadai, Shannon Stasi, Darci L. Sternen, Jessie H. Conta, Monica Wellner, Jane A. Dickerson
Publikováno v: American Journal of Clinical Pathology. 152:S148-S148
Introduction The complexity and relative high cost of genetic tests combined with stringent administrative and medical coverage policies can negatively impact test accessibility and, ultimately, patient care. The burden of test preauthorization typic
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::837d97cb8f581acef947f5d89dc80cf0
https://doi.org/10.1093/ajcp/aqz130.015
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8
Practices and Policies of Clinical Exome Sequencing Providers: Analysis and Implications
Autor: Michael J. Bamshad, Jessie H. Conta, Seema M. Jamal, Karin M. Dent, Jessica X. Chong, Holly K. Tabor, Joon-Ho Yu
Publikováno v: American Journal of Medical Genetics Part A. 161:935-950
Exome and whole genome sequencing (ES/WGS) offer potential advantages over traditional approaches to diagnostic genetic testing. Consequently, use of ES/WGS in clinical settings is rapidly becoming commonplace. Yet there are myriad moral, ethical, an
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56cbff39633a358ce43b59fbda81a4a6
https://doi.org/10.1002/ajmg.a.35942
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9
Utilization Management of Genetic Testing
Autor: Jessie H. Conta, Christina M. Lockwood, Jane A. Dickerson
Publikováno v: Utilization Management in the Clinical Laboratory and Other Ancillary Services ISBN: 9783319341972
Utilization management of genetic testing requires a combination of gentle, medium, and strong interventions, each of which can be customized to best fit an institution. Analogous to other fields in the laboratory, the motivation for monitoring and i
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::21b47caaf71bcf868f6f0618939e61d0
https://doi.org/10.1007/978-3-319-34199-6_20
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10
Preventing Genetic Testing Order Errors With a Laboratory Utilization Management Program
Autor: Michael L. Astion, Jane A. Dickerson, Bonnie Cole, Patrick C. Mathias, Eric Q. Konnick, Darci L. Sternen, Jessie H. Conta, Shannon Stasi
Publikováno v: American journal of clinical pathology. 146(2)
Objectives: To characterize error rates for genetic test orders between medical specialties and in different settings by examining detailed order information. Methods: We performed a retrospective analysis of a detailed utilization management case da
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dded56c2c4d971d05cdb28c92d39acd
https://pubmed.ncbi.nlm.nih.gov/27473740
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