Evidence map›Paper›PMID 30214068›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019

Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization.

Celeste Eno, Pinar Bayrak-Toydemir, Lora Bean, Alicia Braxton, Elizabeth C Chao, Dima El-Khechen, Edward D Esplin, Bethany Friedman, Kelly D Farwell Hagman, Tina Hambuch and 9 more

Abstract read
PubMed Publisher
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 1 pooled it
–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.

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

8 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Review
  3. Article
  4. Article
  5. Exome/Genome Sequencing in Undiagnosed Syndromes.Annual review of medicine · 2023
    Review
  6. Review
  7. Article
  8. The transformation of medical genetics by clinical genomics: hubris meets humility.Genetics in medicine : official journal of the American College of Medical Genetics · 2019
    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

19 authors.

Celeste EnoUniversity of California, Los Angeles, Los Angeles, CA, USA.
Pinar Bayrak-ToydemirARUP Laboratories, University of Utah, Salt Lake City, UT, USA.
Lora BeanEGL Genetics, Tucker, GA, USA.
Alicia BraxtonBaylor Genetics, Baylor College of Medicine, Houston, TX, USA.
Elizabeth C ChaoUniversity of California, Irvine, Irvine, CA, USA.
Dima El-KhechenAmbry Genetics, Aliso Viejo, CA, USA.
Edward D EsplinInvitae Corporation, San Francisco, CA, USA.
Bethany FriedmanGeneDx, Gaithersburg, MD, USA.
Kelly D Farwell HagmanAmbry Genetics, Aliso Viejo, CA, USA.
Tina HambuchInvitae Corporation, San Francisco, CA, USA.
Amy HernandezPartners HealthCare, Laboratory for Molecular Medicine, Cambridge, MA, USA.
Jane JuusolaGeneDx, Gaithersburg, MD, USA.
Gina LondrePreventionGenetics, Marshfield, WI, USA.
Jerry MachadoPreventionGenetics, Marshfield, WI, USA.
Rong MaoARUP Laboratories, University of Utah, Salt Lake City, UT, USA.
Lindsey MighionEGL Genetics, Tucker, GA, USA.
Heidi L RehmPartners HealthCare, Laboratory for Molecular Medicine, Cambridge, MA, USA.
Patricia WardBaylor Genetics, Baylor College of Medicine, Houston, TX, USA.
Joshua L DeignanUniversity of California, Los Angeles, Los Angeles, CA, USA. JDeignan@mednet.ucla.edu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeClinical laboratories performing exome or genome sequencing (ES/GS) are familiar with the challenges associated with proper consenting for and reporting of medically actionable secondary findings based on recommendations from the American College of Medical Genetics and Genomics (ACMG). Misattributed parentage is another type of unanticipated finding a laboratory may encounter during family-based ES/GS; however, there are currently no professional recommendations related to the proper consenting for and reporting of misattributed parentage encountered during ES/GS.

methodsWe surveyed 10 clinical laboratories offering family-based ES/GS regarding their consent language, discovery, and reporting of misattributed parentage.

resultsMany laboratories have already developed their own practices/policies for these issues, which do not necessarily agree with those from other labs.

conclusionThere are several other possibilities besides true misattributed parentage that could result in similar laboratory findings, and laboratories often feel they lack sufficient information to make formal conclusions on a report regarding the true genetic relatedness of the submitted samples. However, understanding the genetic relatedness (or lack thereof) of the samples submitted for family-based ES/GS has medical relevance. Therefore, professional recommendations for the appropriate handling of suspected misattributed parentage encountered during ES/GS are needed to help standardize current clinical laboratory practices.

Indexed as

ParentsClinical Laboratory ServicesExomeExome SequencingFemaleGenetics, MedicalGenetic TestingGenome, HumanGenomicsHumansIncidental FindingsInformed ConsentMaleSurveys and QuestionnairesWhole Genome Sequencingethicsexomegenomeparentagesequencing

Identifiers

PMID30214068

What Socratic 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 Socratic graph.