Intended for healthcare professionals

Rapid response to:


Promises and perils of using genetic tests to predict risk of disease

BMJ 2020; 368 doi: (Published 07 February 2020) Cite this as: BMJ 2020;368:m14

Linked Practice

Direct-to-consumer genetic testing

Rapid Response:

Re: Promises and perils of using genetic tests to predict risk of disease

Dear Editor,

Scott et al`s salutary analysis about the promises and perils of using genetic tests to predict risk of disease concludes: `When choosing predictive genetic tests, clinicians and consumers must avoid commercial hype, ask relevant questions, and advocate for rigorous evaluation.` [1] Horton et al`s `Practice pointer` informative piece begins: `Direct-to-consumer (DTC) genetic tests are sold online and in shops as a way to “find out what your DNA says.`` [2]

Definitely a time for clinicians and consumers of genetic tests to remember `Caveat emptor`! The `information asymmetry` in such transactions as defined in Wikipedia is worth looking at: “The phrase caveat emptor and its use as a disclaimer of warranties arise from the fact that buyers typically have less information than the seller about the good or service they are purchasing. This quality of the situation is known as 'information asymmetry'. Defects in the good or service may be hidden from the buyer, and only known to the seller.

The increasing practice of many kinds of `transactional medicine` [3], and ubiquitous sometimes inappropriate use of the word `consumer`, carries many harms, often turning people and patients into consumers unnecessarily. In other transactions, citizens choose to become consumers – as with genetic testing – unwittingly opening up a Pandora`s box of trouble. Increasingly, people`s curiosity `to know` outruns their ability to fully explore and properly consider potential consequences and likely limitations of persuasive information provided by purveyors of futuristic interventions. There must be many who crave the old-fashioned transaction between physician and patient as poignantly depicted in a rapid response [4] to Helen Salisbury`s question, `Is transactional care enough?`. [3]

[1] Scott I, Attia J, Moynihan R. Promises and perils of using genetic tests to predict risk of disease.
BMJ 2020;368:m14

[2] Horton R, Crawford G, Freeman L, Fenwick A, Wright FW,Lucasson A. Direct to consumer genetic testing. BMJ 2019;367:l5688

[3] Helen Salisbury: Is transactional care enough? BMJ 2020;368:m226

[4] Noor M Yousufzai. Rapid response 13th February 2020

Competing interests: No competing interests

14 February 2020
Hazel Thornton
Honorary Visiting Fellow, Department of Health Sciences
University of Leicester
"Saionara", 31 Regent Street, Rowhedge, Colchester, CO5 7EA