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Direct-to-consumer genetic testing with third party interpretation: beware of spurious results

Direct-to-consumer genetic testing with third party interpretation: beware of spurious results
Direct-to-consumer genetic testing with third party interpretation: beware of spurious results
Direct-to-consumer (DTC) genetic tests aim to provide insights into issues as varied as
ancestry, nutrition, athletic ability and child talent, and some also report on disease risks.
DTC companies tend to present their tests as uniformly beneficial, but the quality of the
information they provide can be doubtful. Tests often invite people to step between territories,
from the consumer in search of ‘fun’ information to potential patient, and the
boundaries between these roles become even murkier when individuals explore the raw
data from their DTC tests using third-party interpretation websites. We discuss two composite
cases from U.K. genetics centres where patients used third party interpretation
services to analyse raw data from DTC genetic tests. They then presented to NHS clinical
services requesting interventions based on the disease-associated variants found, only
to find that these variants were not actually present: their ‘pathogenic results’ were spurious.
We highlight the risk of false positives (as well as false negatives) from DTC genetic
tests, and discuss whether these cases represent the start of a worrying trend, where
publicly funded clinicians and clinical scientists increasingly need to spend time and
money investigating genetic results of dubious validity.
2397-8562
669-674
Horton, Rachel
f79e8b73-2edc-47aa-b29a-1801ad10fe6b
Crawford, Gillian
06298657-d96d-4371-9dd5-02350c1ff6ce
Freeman, Lindsey
a9c57597-8322-41c3-a9ef-11a301fed323
Fenwick, Angela
95a1f4fa-7f6f-4c07-a93b-9ea39c231c31
Lucassen, Anneke
2eb85efc-c6e8-4c3f-b963-0290f6c038a5
Horton, Rachel
f79e8b73-2edc-47aa-b29a-1801ad10fe6b
Crawford, Gillian
06298657-d96d-4371-9dd5-02350c1ff6ce
Freeman, Lindsey
a9c57597-8322-41c3-a9ef-11a301fed323
Fenwick, Angela
95a1f4fa-7f6f-4c07-a93b-9ea39c231c31
Lucassen, Anneke
2eb85efc-c6e8-4c3f-b963-0290f6c038a5

Horton, Rachel, Crawford, Gillian, Freeman, Lindsey, Fenwick, Angela and Lucassen, Anneke (2019) Direct-to-consumer genetic testing with third party interpretation: beware of spurious results. Emerging Topics in Life Sciences, 3 (6), 669-674. (doi:10.1042/ETLS20190059).

Record type: Article

Abstract

Direct-to-consumer (DTC) genetic tests aim to provide insights into issues as varied as
ancestry, nutrition, athletic ability and child talent, and some also report on disease risks.
DTC companies tend to present their tests as uniformly beneficial, but the quality of the
information they provide can be doubtful. Tests often invite people to step between territories,
from the consumer in search of ‘fun’ information to potential patient, and the
boundaries between these roles become even murkier when individuals explore the raw
data from their DTC tests using third-party interpretation websites. We discuss two composite
cases from U.K. genetics centres where patients used third party interpretation
services to analyse raw data from DTC genetic tests. They then presented to NHS clinical
services requesting interventions based on the disease-associated variants found, only
to find that these variants were not actually present: their ‘pathogenic results’ were spurious.
We highlight the risk of false positives (as well as false negatives) from DTC genetic
tests, and discuss whether these cases represent the start of a worrying trend, where
publicly funded clinicians and clinical scientists increasingly need to spend time and
money investigating genetic results of dubious validity.

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DTC artefacts perspectives revision 2 clean copy - Accepted Manuscript
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More information

Accepted/In Press date: 3 October 2019
e-pub ahead of print date: 28 October 2019
Published date: November 2019

Identifiers

Local EPrints ID: 436942
URI: http://eprints.soton.ac.uk/id/eprint/436942
ISSN: 2397-8562
PURE UUID: 78750bbe-f9e3-4733-9282-7b0026273b17
ORCID for Anneke Lucassen: ORCID iD orcid.org/0000-0003-3324-4338

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Date deposited: 14 Jan 2020 17:31
Last modified: 22 Nov 2021 07:56

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Contributors

Author: Rachel Horton
Author: Gillian Crawford
Author: Lindsey Freeman
Author: Angela Fenwick
Author: Anneke Lucassen ORCID iD

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