Evidence map›Paper›PMID 24151055›Full record

ArticleJournal of genetic counseling2014

A genetic counselor's guide to using next-generation sequencing in clinical practice.

Flavia M Facio, Kristy Lee, Julianne M O'Daniel

Registry-linked trialAbstract read
PubMed Publisher
In one paragraph

Article in Journal of genetic counseling, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03548779 (North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2), which is not on this map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing 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.

NCT03548779 nacompletednot on this mapstarted 2018, after this paper: background citation

North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2

TypeinterventionalSponsorUniversity of North Carolina, Chapel HillRan2018 to 2024Enrolled548ConditionsEpilepsy, Seizure, Neuromuscular Diseases, Brain MalformationArmsPre-visit prep, usual care + exome seq
3 · Its place in the literature

Who cites it

17 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Psychological adaptation to diagnostic genomic sequencing results: The role of hope fulfillment.Health psychology : official journal of the Division of Health Psychology, American Psychological Association · 2019
    Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Review
  12. Review
  13. Article
  14. Article
  15. Article
  16. Multigene Panel Testing for Hereditary Cancer Risk.Journal of the advanced practitioner in oncology
    Review
  17. 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

3 authors.

Flavia M Facio, 4102 Knowles Avenue, Kensington, MD, 20895, USA, flavia.m.facio@gmail.com.
Kristy Lee
Julianne M O'Daniel

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Advances in next-generation sequencing (NGS) and rapid reductions in cost have increased the use of such technologies in research and clinical practice. However, many barriers exist to translating NGS for routine clinical use, including issues related to the interpretation of results, and the potential to find results that are secondary or incidental to the specific application of NGS. Nonetheless, NGS has become sufficiently affordable to be offered by several clinical laboratories, and increasingly it is becoming an attractive and viable option for clinicians and patients. This article reviews current NGS technologies, highlighting the information genetic counselors need to know to make informed-decisions about utilizing NGS in the clinic, and underscoring the impact of this new testing modality on the practice of genetic counseling.

Indexed as

Genetic CounselingHumansSequence Analysis

Identifiers

What OpenQuestion holds

Textmetadata
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.