Evidence map›Paper›PMID 29565420›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018

False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care.

Stephany Tandy-Connor, Jenna Guiltinan, Kate Krempely, Holly LaDuca, Patrick Reineke, Stephanie Gutierrez, Phillip Gray, Brigette Tippin Davis

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Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 117 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
117citing papers in PubMed, 5 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

117 citing papers in PubMed, 5 syntheses or guidelines pooled it.

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  14. Consent and its discontents: the case of UK Biobank.Medicine, health care, and philosophy · 2025
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  18. Breast cancer screening for transgender individuals with breast cancer susceptibility genes.Translational breast cancer research : a journal focusing on translational research in breast cancer · 2025
    Review
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  20. Article

57 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

8 authors.

Stephany Tandy-ConnorAmbry Genetics, Aliso Viejo, USA, California. sconnor@ambrygen.com.
Jenna GuiltinanAmbry Genetics, Aliso Viejo, USA, California.
Kate KrempelyAmbry Genetics, Aliso Viejo, USA, California.
Holly LaDucaAmbry Genetics, Aliso Viejo, USA, California.
Patrick ReinekeAmbry Genetics, Aliso Viejo, USA, California.
Stephanie GutierrezAmbry Genetics, Aliso Viejo, USA, California.
Phillip GrayAmbry Genetics, Aliso Viejo, USA, California.
Brigette Tippin DavisAmbry Genetics, Aliso Viejo, USA, California.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeThere is increasing demand from the public for direct-to-consumer (DTC) genetic tests, and the US Food and Drug Administration limits the type of health-related claims DTC tests can market. Some DTC companies provide raw genotyping data to customers if requested, and these raw data may include variants occurring in genes recommended by the American College of Medical Genetics and Genomics to be reported as incidental/secondary findings. The purpose of this study was to review the outcome of requests for clinical confirmation of DTC results that were received by our laboratory and to analyze variant classification concordance.

methodsWe identified 49 patient samples received for further testing that had previously identified genetic variants reported in DTC raw data. For each case identified, information pertaining to the outcome of clinical confirmation testing as well as classification of the DTC variant was collected and analyzed.

resultsOur analyses indicated that 40% of variants in a variety of genes reported in DTC raw data were false positives. In addition, some variants designated with the "increased risk" classification in DTC raw data or by a third-party interpretation service were classified as benign at Ambry Genetics as well as several other clinical laboratories, and are noted to be common variants in publicly available population frequency databases.

conclusionOur results demonstrate the importance of confirming DTC raw data variants in a clinical laboratory that is well versed in both complex variant detection and classification.

Indexed as

Genetic TestingGenetic VariationGenomicsAdultAgedDirect-To-Consumer Screening and TestingFemaleHumansInternetMaleMiddle AgedUnited StatesUnited States Food and Drug Administrationclassification discrepancyclinical confirmation direct-to-consumerfalse positiveraw data

Identifiers

PMID29565420
PMCPMC6301953

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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.