Evidence map›Paper›PMID 31207220›Full record

ArticleThe American journal of medicine2020

Consistency of Direct-to-Consumer Genetic Testing Results Among Identical Twins.

Anne M Huml, Catherine Sullivan, Maria Figueroa, Karen Scott, Ashwini R Sehgal

Open access · greenAbstract read
In one paragraph

Article in The American journal of medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.3field-weighted citation impact, top 18% 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, 13 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Birds of a Feather? Genetic Counseling, Genetic Testing, and Humanism.Cold Spring Harbor perspectives in medicine · 2020
    Review
  7. Article
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.

Anne M HumlCenter for Reducing Health Disparities, Case Western Reserve University, Cleveland, Ohio; Division of Nephrology, Department of Medicine, MetroHealth Medical Center, Cleveland, Ohio; Glickman Urological and Kidney Institute, Cleveland Clinic, Cleveland, Ohio. Electronic address: ahuml@metrohealth.org.
Catherine SullivanCenter for Reducing Health Disparities, Case Western Reserve University, Cleveland, Ohio.
Maria FigueroaCenter for Reducing Health Disparities, Case Western Reserve University, Cleveland, Ohio.
Karen ScottCenter for Reducing Health Disparities, Case Western Reserve University, Cleveland, Ohio.
Ashwini R SehgalCenter for Reducing Health Disparities, Case Western Reserve University, Cleveland, Ohio; Division of Nephrology, Department of Medicine, MetroHealth Medical Center, Cleveland, Ohio; Departments of Bioethics and Population and Quantitative Health Sciences, Case Western Reserve University Cleveland, Ohio.
Case Western Reserve University · USMetroHealth Medical Center · US

Funding

Using Lay Health Advisors to Help African American Patients Address the Social Context of HypertensionU54MD002265 · NIMHD · CASE WESTERN RESERVE UNIVERSITY · PI SEHGAL, ASHWINI · 2017 to 2021
$7.1M
Barriers to Care for Patients Transitioning from Transplant to DialysisK23DK101492 · NIDDK · CASE WESTERN RESERVE UNIVERSITY · PI HUML, ANNE MARIE · 2016 to 2020
$800k
NIDDK NIH HHS K23 DK101492NIMHD NIH HHS U54 MD002265
6 · The paper itself

Abstract

backgroundThe purpose of this study was to evaluate the consistency of 3 commonly used direct-to-consumer genetic testing kits. Genetic testing kits are widely marketed by several companies but the consistency of their results is unclear. Because identical twins share the same DNA, their genetic testing results should provide insight into test consistency.

methodsForty-two identical twins (21 pairs) provided samples for 3 testing companies. Outcomes were concordance of ancestry results when twin pairs were tested by the same company and the same participant was tested by different companies. Concordance of 8 self-reported traits with 23andMe genetic analyses were also examined.

resultsConcordance of ancestry results when twin pairs were tested by the same company was high, with mean percentage agreement ranging from 94.5% to 99.2%. Concordance of ancestry results when participants were tested by 2 different companies was lower, with mean percentage agreement ranging from 52.7% to 84.1%. Concordance of trait results was variable, ranging from 34.1% for deep sleep and detached earlobes to 90.2% for cleft chin.

conclusionThe consistency of consumer genetic testing is high for ancestry results within companies but lower and more variable for ancestry results across companies and for specific traits. These results raise questions about the usefulness of such testing.

Indexed as

AdolescentAdultAgedDirect-To-Consumer Screening and TestingFemaleGenetic TestingHumansMaleMiddle AgedTwins, MonozygoticWhite PeopleYoung AdultConsistencyGenetic testingIdentical twins

Identifiers

PMID31207220
PMCPMC6911647
OpenAlexW2952272642

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.