Evidence map›Paper›PMID 23163796›Full record

ArticleClinical genetics2013

Perspectives of clinical genetics professionals toward genome sequencing and incidental findings: a survey study.

A A Lemke, D Bick, D Dimmock, P Simpson, R Veith

Open access · bronzeAbstract read
In one paragraph

Article in Clinical genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
43citing papers in PubMed, 1 pooled it
8.5field-weighted citation impact, top 2% 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

43 citing papers in PubMed, 1 synthesis or guideline pooled it, 80 citations in OpenAlex.

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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 3 institutions in 1 country.

A A LemkeSchool of Medicine and Public Health, University of Wisconsin, Madison, WI 53705, USA. aalemke@tds.net
D Bick
D Dimmock
P Simpson
R Veith
Children's Hospital of Wisconsin · USMedical College of Wisconsin · USUniversity of Wisconsin–Madison · US

Funding

Clincal and Translational Science AwardUL1TR000055 · NCATS · MEDICAL COLLEGE OF WISCONSIN · PI SHAKER, REZA NONE · 2012 to 2015
$11.3M
NCATS NIH HHS UL1 TR000055
6 · The paper itself

Abstract

The introduction of clinical genome-wide sequencing raises complex issues regarding the management of incidental findings. However, there is a lack of empirical studies assessing views of providers involved in potential disclosure of such findings. In an anonymous survey of 279 clinical genetics professionals, we found that the vast majority of participants agreed that they were interested in knowing about clinically actionable incidental findings in themselves (96%) and their child (99%), and they reported that these types of findings should be disclosed in adult (96%) and minor (98%) patients. Approximately three-fourths agreed that they were personally interested in knowing about an adult-onset clinically actionable disease (78%) and a childhood-onset non-clinically actionable disease (75%) in their child. A similar percentage of participants (70%) felt that these two types of findings should be disclosed to patients. Forty-four percent of participants wanted to know about an incidental finding that indicates an adult-onset non-clinically actionable condition in themselves and 31% wanted to know about this type of information in their child. Findings from this study revealed participants' views highly dependent on clinical actionability. Further research is needed with a broader population of geneticists to increase generalizability, and with diverse patients to assess their perspectives about results disclosure from clinical sequencing.

Indexed as

Genetics, MedicalGenomicsHealth Knowledge, Attitudes, PracticeHealth PersonnelHigh-Throughput Nucleotide SequencingIncidental FindingsAdolescentAdultAgedChildFemaleHealth Care SurveysHumansMaleMiddle AgedYoung Adultclinical geneticsethicsgenetics professionalsgenomic sequencingincidental findingspolicyreturn of resultssecondary findingswhole genome sequencing

Identifiers

PMID23163796
PMCPMC3888159
OpenAlexW1608171675

What OpenQuestion holds

Textmetadata
LicenceTDM
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.