Evidence map›Paper›PMID 25232848›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2015

Single-nucleotide polymorphism arrays and unexpected consanguinity: considerations for clinicians when returning results to families.

Fernanda Delgado, Holly K Tabor, Penny M Chow, Jessie H Conta, Kenneth W Feldman, Karen D Tsuchiya, Anita E Beck

Open access · bronzeAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.5field-weighted citation impact, top 21% 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

2 citing papers in PubMed, 6 citations in OpenAlex.

  1. Variants inGenetics in medicine open · 2025
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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

7 authors at 2 institutions in 1 country.

Fernanda Delgado1] University of Washington School of Medicine, Seattle, Washington, USA [2] Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.
Holly K Tabor1] Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA [2] Seattle Children's Hospital, Seattle, Washington, USA [3] Treuman Katz Center for Pediatric Bioethics, Seattle Children's Research Institute, Seattle, Washington, USA.
Penny M ChowSeattle Children's Hospital, Seattle, Washington, USA.
Jessie H ContaSeattle Children's Hospital, Seattle, Washington, USA.
Kenneth W FeldmanSeattle Children's Hospital, Seattle, Washington, USA.
Karen D TsuchiyaSeattle Children's Hospital, Seattle, Washington, USA.
Anita E Beck1] University of Washington School of Medicine, Seattle, Washington, USA [2] Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA [3] Seattle Children's Hospital, Seattle, Washington, USA.
Seattle Children's Hospital · USUniversity of Washington · US

Funding

Identifying the Genetic and Molecular Basis of ClubfootK23HD057331 · NICHD · UNIVERSITY OF WASHINGTON · PI BECK, ANITA E · 2009 to 2013
$636k
NICHD NIH HHS 5K23HD057331NICHD NIH HHS K23 HD057331PHS HHS 5R0OHG004316-0
6 · The paper itself

Abstract

purposeThe broad use of single-nucleotide polymorphism microarrays has increased identification of unexpected consanguinity. Therefore, guidelines to address reporting of consanguinity have been published for clinical laboratories. Because no such guidelines for clinicians exist, we describe a case and present recommendations for clinicians to disclose unexpected consanguinity to families.

methodsIn a boy with multiple endocrine abnormalities and structural birth defects, single-nucleotide polymorphism array analysis revealed ~23% autosomal homozygosity suggestive of a first-degree parental relationship. We assembled an interdisciplinary health-care team, planned the most appropriate way to discuss results of the single-nucleotide polymorphism array with the adult mother, including the possibility of multiple autosomal recessive disorders in her child, and finally met with her as a team.

resultsFrom these discussions, we developed four major considerations for clinicians returning results of unexpected consanguinity, all guided by the child's best interests: (i) ethical and legal obligations for reporting possible abuse, (ii) preservation of the clinical relationship, (iii) attention to justice and psychosocial challenges, and (iv) utilization of the single-nucleotide polymorphism array results to guide further testing.

conclusionAs single-nucleotide polymorphism arrays become a common clinical diagnostic tool, clinicians can use this framework to return results of unexpected consanguinity to families in a supportive and productive manner.

Indexed as

ConsanguinityIncidental FindingsPolymorphism, Single NucleotideChromosome MappingFamilyHomozygoteHumansInfantMaleOligonucleotide Array Sequence AnalysisPhysiciansTruth Disclosure

Identifiers

PMID25232848
PMCPMC4404161
OpenAlexW2032340298

What OpenQuestion holds

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Registered trials

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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.