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Direct-to-consumer genetic testing

Direct-to-consumer genetic testing
Direct-to-consumer genetic testing
What you need to know
Finding a “health risk” via direct-to-consumer (DTC) genetic testing often does not mean that a patient will go on to develop the health problem in question
DTC genetic tests might report false positives (artefacts)
“Reassuring” results from DTC genetic tests might be false negatives
Make sure you are confident in the provenance and interpretation of a genetic result before you base any clinical decisions on it
If your patient meets criteria for referral to clinical genetics, refer regardless of the results of their DTC genetic test
Direct-to-consumer (DTC) genetic tests are sold online and in shops as a way to “find out what your DNA says.”12 Testing kits typically contain instructions and equipment for collecting a saliva sample, which customers post to the DTC company for analysis.
Some DTC genetic tests promise insights into ancestry or disease risks; others claim to provide information on personality, athletic ability, and child talent. However, interpretation of genetic data is complex and context dependent, and DTC genetic tests may produce false positive and false negative results.
Anyone concerned about a result from a DTC genetic test might turn to their general practitioner (GP) or other primary healthcare provider for advice. This practice pointer aims to help clinicians in this scenario and explains what sort of health information is provided by these tests, their limitations, and how clinicians can respond to common questions about them.
What is a DTC genetic test?
Most DTC genetic tests don’t sequence the whole genome. They typically use a method called SNP-chip genotyping, which checks for the presence or absence of specific variants throughout the genetic code, such as particular single nucleotide polymorphisms (SNPs), or small insertions or deletions. SNP-chip genotyping detects common genetic variants well, but when SNP-chips detect very rare variants these are often false positives (ie, they are not really present …
0959-8138
1-6
Horton, Rachel
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Crawford, Gillian
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Freema, Lindsey
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Fenwick, Angela
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Wright, Caroline F.
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Lucassen, Anneke
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Horton, Rachel
f79e8b73-2edc-47aa-b29a-1801ad10fe6b
Crawford, Gillian
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Freema, Lindsey
00abc211-f362-49bd-8a56-62102d33135f
Fenwick, Angela
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Wright, Caroline F.
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Lucassen, Anneke
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Horton, Rachel, Crawford, Gillian, Freema, Lindsey, Fenwick, Angela, Wright, Caroline F. and Lucassen, Anneke (2019) Direct-to-consumer genetic testing. British Medical Journal, 367, 1-6. (doi:10.1136/bmj.l5688).

Record type: Article

Abstract

What you need to know
Finding a “health risk” via direct-to-consumer (DTC) genetic testing often does not mean that a patient will go on to develop the health problem in question
DTC genetic tests might report false positives (artefacts)
“Reassuring” results from DTC genetic tests might be false negatives
Make sure you are confident in the provenance and interpretation of a genetic result before you base any clinical decisions on it
If your patient meets criteria for referral to clinical genetics, refer regardless of the results of their DTC genetic test
Direct-to-consumer (DTC) genetic tests are sold online and in shops as a way to “find out what your DNA says.”12 Testing kits typically contain instructions and equipment for collecting a saliva sample, which customers post to the DTC company for analysis.
Some DTC genetic tests promise insights into ancestry or disease risks; others claim to provide information on personality, athletic ability, and child talent. However, interpretation of genetic data is complex and context dependent, and DTC genetic tests may produce false positive and false negative results.
Anyone concerned about a result from a DTC genetic test might turn to their general practitioner (GP) or other primary healthcare provider for advice. This practice pointer aims to help clinicians in this scenario and explains what sort of health information is provided by these tests, their limitations, and how clinicians can respond to common questions about them.
What is a DTC genetic test?
Most DTC genetic tests don’t sequence the whole genome. They typically use a method called SNP-chip genotyping, which checks for the presence or absence of specific variants throughout the genetic code, such as particular single nucleotide polymorphisms (SNPs), or small insertions or deletions. SNP-chip genotyping detects common genetic variants well, but when SNP-chips detect very rare variants these are often false positives (ie, they are not really present …

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More information

e-pub ahead of print date: 16 October 2019

Identifiers

Local EPrints ID: 435310
URI: http://eprints.soton.ac.uk/id/eprint/435310
ISSN: 0959-8138
PURE UUID: b94b5b6d-e896-4481-be38-1344652c27c8
ORCID for Anneke Lucassen: ORCID iD orcid.org/0000-0003-3324-4338

Catalogue record

Date deposited: 30 Oct 2019 17:30
Last modified: 26 Nov 2021 02:45

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Contributors

Author: Rachel Horton
Author: Gillian Crawford
Author: Lindsey Freema
Author: Angela Fenwick
Author: Caroline F. Wright
Author: Anneke Lucassen ORCID iD

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