Evidence map›Paper›PMID 30706981›Full record

ArticleJournal of genetic counseling2019

Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students.

Megan E Grove, Shana White, Dianna G Fisk, Shannon Rego, Orit Dagan-Rosenfeld, Jennefer N Kohler, Chloe M Reuter, Devon Bonner, Undiagnosed Diseases Network, Matthew T Wheeler and 3 more

Registry-linked trialAbstract read
In one paragraph

Article in Journal of genetic counseling, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02450851 (Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network), which is not on this map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT02450851 recruitingnot on this map

Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network

TypeobservationalSponsorNational Human Genome Research Institute (NHGRI)Ran2015 to 2028Enrolled20,000ConditionsGenetic Disease
3 · Its place in the literature

Who cites it

6 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

Megan E GroveStanford Clinical Genomics Program, Stanford Health Care, Stanford, California.
Shana WhiteStanford Clinical Genomics Program, Stanford Health Care, Stanford, California.
Dianna G FiskStanford Clinical Genomics Program, Stanford Health Care, Stanford, California.
Shannon RegoDepartment of Genetics, Stanford University School of Medicine, Stanford, California.
Orit Dagan-RosenfeldDepartment of Genetics, Stanford University School of Medicine, Stanford, California.
Jennefer N KohlerStanford Center for Undiagnosed Diseases, Stanford University, Stanford, California.
Chloe M ReuterStanford Center for Undiagnosed Diseases, Stanford University, Stanford, California.
Devon BonnerStanford Center for Undiagnosed Diseases, Stanford University, Stanford, California.
Undiagnosed Diseases NetworkNIH Undiagnosed Diseases Network, Office of the Director and the National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
Matthew T WheelerStanford Center for Undiagnosed Diseases, Stanford University, Stanford, California.
Jonathan A BernsteinStanford Center for Undiagnosed Diseases, Stanford University, Stanford, California.
Kelly E OrmondDepartment of Genetics, Stanford University School of Medicine, Stanford, California.
Andrea K Hanson-KahnDepartment of Genetics, Stanford University School of Medicine, Stanford, California.

Funding

Coordinating Center for the Undiagnosed Diseases NetworkU01HG007530 · NHGRI · HARVARD MEDICAL SCHOOL · PI KOHANE, ISAAC S. · 2014 to 2022
$30.2M
Pilot of New Technologies to Increase the Genomic Diagnosis of Undiagnosed Disease Network (UDN) PatientsU01HG007709 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI BACINO, CARLOS A., LEE, BRENDAN · 2014 to 2022
$14.3M
Vanderbilt Center for Undiagnosed Diseases (VCUD) - BiorepositoryU01HG007674 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI COGAN, JOY D, HAMID, RIZWAN · 2014 to 2022
$13.7M
An integrated and diverse genomic medicine program for undiagnosed diseasesU01HG007672 · NHGRI · DUKE UNIVERSITY · PI SHASHI, VANDANA · 2014 to 2022
$13.4M
Center for Integrated Approaches to Undiagnosed DiseasesU01HG007690 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI LOSCALZO, JOSEPH · 2014 to 2022
$10.4M
Clinical Sequencing Core Facility for the Undiagnosed Diseases Network (UDN)U01HG007942 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI ENG, CHRISTINE · 2014 to 2021
$10.2M
UCLA clinical site for the investigation of undiagnosed disordersU01HG007703 · NHGRI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI MARTINEZ-AGOSTO, JULIAN, NELSON, STANLEY F. · 2014 to 2022
$10.1M
Stanford Center for Undiagnosed DiseasesU01HG007708 · NHGRI · STANFORD UNIVERSITY · PI ASHLEY, EUAN A, BERNSTEIN, JONATHAN ADAM · 2014 to 2018
$8.0M
Zebrafish CoreU54NS093793 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI BELLEN, HUGO J · 2015 to 2022
$7.5M
What comes next? Engaging stakeholders in governance of participant data and relationships during the sunset of large genomic medicine research initiativesU01HG010218 · NHGRI · STANFORD UNIVERSITY · PI ASHLEY, EUAN A, BERNSTEIN, JONATHAN ADAM · 2018 to 2022
$6.3M
Clinical Genome Wide Sequencing Core for the Undiagnosed Disease NetworkU01HG007943 · NHGRI · MEDICAL COLLEGE OF WISCONSIN · PI WORTHEY, ELIZABETH A · 2014 to 2017
$4.1M
Undiagnosed Diseases Network Metabolomics Core SupplementU01TR001395 · NCATS · BATTELLE PACIFIC NORTHWEST LABORATORIES · PI KOELLER, DAVID M, METZ, THOMAS O · 2015 to 2018
$2.3M
NCATS NIH HHS U01 TR001395NHGRI NIH HHS U01 HG007530NHGRI NIH HHS U01 HG007672NHGRI NIH HHS U01 HG007674NHGRI NIH HHS U01 HG007690NHGRI NIH HHS U01 HG007703NHGRI NIH HHS U01 HG007708NHGRI NIH HHS U01 HG007709NHGRI NIH HHS U01 HG007942NHGRI NIH HHS U01 HG007943NINDS NIH HHS U54 NS093793
6 · The paper itself

Abstract

With the wide adoption of next-generation sequencing (NGS)-based genetic tests, genetic counselors require increased familiarity with NGS technology, variant interpretation concepts, and variant assessment tools. The use of exome and genome sequencing in clinical care has expanded the reach and diversity of genetic testing. Regardless of the setting where genetic counselors are performing variant interpretation or reporting, most of them have learned these skills from colleagues, while on the job. Though traditional, lecture-based learning around these topics is important, there has been growing need for the inclusion of case-based, experiential training of genomics and variant interpretation for genetic counseling students, with the goal of creating a strong foundation in variant interpretation for new genetic counselors, regardless of what area of practice they enter. To address this need, we established a genomics and variant interpretation rotation for Stanford's genetic counseling training program. In response to changes in the genomics landscape, this has now evolved into three unique rotation experiences, each focused on variant interpretation in the context of various genomic settings, including clinical laboratory, research laboratory, and healthy genomic analysis studies. Here, we describe the goals and learning objectives that we have developed for these variant interpretation rotations, and illustrate how these concepts are applied in practice.

Indexed as

CurriculumGenetic CounselingGenetic TestingAdultCounselorsGenomicsHumansProgram DevelopmentUniversitiesgenetic counselinggenetics educationgenomicsrotationvariant interpretation

Identifiers

PMID30706981
PMCPMC6456376

What OpenQuestion holds

Textmetadata
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Read underepoch 390

Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.