Evidence map›Paper›PMID 26283062›Full record

ArticleJournal of genetic counseling2016

Clinical and Counseling Experiences of Early Adopters of Whole Exome Sequencing.

Shubhangi Arora, Eden Haverfield, Gabriele Richard, Susanne B Haga, Rachel Mills

Open access · bronzeAbstract read
PubMed Publisher
In one paragraph

Article in Journal of genetic counseling, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed, 1 pooled it
2.0field-weighted citation impact, top 13% of its field
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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

7 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.

  1. Pooled it
  2. Trial
  3. Article
  4. The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review.Genetics in medicine : official journal of the American College of Medical Genetics · 2020
    Article
  5. Article
  6. Article
  7. 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

5 authors at 2 institutions in 1 country.

Shubhangi AroraCenter for Applied Genomics & Precision Medicine, Duke University, 304 Research Drive, Box 90141, Durham, NC, 27708, USA.
Eden HaverfieldGeneDx, 207 Perry Parkway, Gaithersburg, MD, 20877, USA.
Gabriele RichardGeneDx, 207 Perry Parkway, Gaithersburg, MD, 20877, USA.
Susanne B HagaCenter for Applied Genomics & Precision Medicine, Duke University, 304 Research Drive, Box 90141, Durham, NC, 27708, USA.
Rachel MillsCenter for Applied Genomics & Precision Medicine, Duke University, 304 Research Drive, Box 90141, Durham, NC, 27708, USA. r.mills@duke.edu.
Duke University · USGenex Systems (United States) · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Currently, there are limited data regarding the practice of genetic counseling for whole exome sequencing (WES). Improved understanding of how genetic counselors and other providers are educating, counseling, and communicating results may identify practice trends, and patient or provider needs. Between April 2013 and December 2014, we surveyed providers who ordered WES testing from GeneDx, a CLIA-certified laboratory. Forty-nine respondents completed the survey; 41 % of participants reported board certification in genetic counseling. Pre-test and post-test counseling was completed in all but one case each. Pre-test counseling lasted less than 1 h for 53 % of cases and 1 to 2 h for 43 %. Topics discussed with all patients included consent for testing, and incidental findings; other topics were variable. In contrast to pre-test counseling, 59 % reported post-test counseling lasting 1 to 2 h and 33 % less than an hour; post-testing counseling was significantly longer in cases with a definitive diagnosis than those without (p = 0.0129). The survey findings indicate some variability regarding the amount of time spent on counseling and the topics discussed during pre-test counseling. Additional exploration, patient and provider educational resources, and potentially more specific guidelines regarding counseling for WES may be warranted.

Indexed as

Attitude of Health PersonnelGenome-Wide Association StudyAdultExomeFemaleGenetic CounselingHealth SurveysHumansMaleMedicineMiddle AgedPatient Education as TopicSpecialty BoardsGenetic counselingWhole exome sequencing

Identifiers

PMID26283062
OpenAlexW248672232

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.