Promises and perils of using genetic tests to predict risk of diseaseBMJ 2020; 368 doi: https://doi.org/10.1136/bmj.m14 (Published 07 February 2020) Cite this as: BMJ 2020;368:m14
All rapid responses
As a family member of someone recently diagnosed with a serious monogenetic disorder, I read with interest this article by I. Scott and colleagues.1 I understand there are many benefits of genetic testing to identify and provide treatment for such diseases, especially for monogenetic diseases where there is a clear link of a particular disease to a certain gene (and, as a result, a targeted treatment approach is generally provided to sufferers). However, I am also very worried about the disclosure of genetic change that causes a low risk of illness. This can adversely affect people’s life chances by labelling them as diseased. This is despite there being a high chance of such people never suffering from the condition itself in their lives, due to its polygenetic nature. Such labels risk increased difficulty in obtaining insurance, problems getting jobs, and having the fear of a decreased life expectancy.
I would support cost effective genetic screening where effective treatments are available, ranging from direct cures of diseases to regular monitoring (such as for the growth of a malignant tumour which responds to intervention at a particular stage). However, I believe that wholesale implementation of DNA profiling for disease risks the introduction of genetic discrimination with a new breed of “haves” and “have-nots”, which would be a blight on society. Therefore, the NHS should only fund genetic testing for serious genetic diseases where cost effective treatment with a high efficacy are available.
1. Scott, I. A. Promises and perils of using genetic tests to predict risk of disease. BMJ 2020;368:m14
Competing interests: No competing interests
Genetic Testing vs FMTVDM: The Difference Between You MIGHT and DO have a health problem. Re: Promises and perils of using genetic tests to predict risk of disease
We agree with Scott, et al  and their concern about much needed evidence of the benefits versus harms associated with the use of genetic testing. Like coronary artery disease, the use of blood tests – including genetic blood tests – do not tell us what is happening at the tissue level. It only provides us with an indirect inference, which when investigated was only poorly or at best moderately “correlated” with changes at the tissue level .
Of great concern is the consequence of actions taken by patients who have tested positively for a genetic marker, which may indicate a potential future health problem [3,4] but does not mean there is a current health problem . E.g. prophylactic mastectomies to reduce the risk for breast cancer does not eliminate the risk of breast cancer as there – in the absence of removal of the skin itself – will be residual breast tissue left behind following the procedure; providing a false sense of security and not addressing the associated risk of uterine, ovarian, or male prostate cancer. Similarly, the absence of a genetic marker does NOT mean there is no risk of developing cancer or other health problems [6,7].
In the absence of more definitive quantitative diagnostic methods - which now exists  - many patients are confronted with the fears associated with such genetic markers and the lack of understanding, particularly about cancer [6-8].
As we have previously shown, the use of genetic testing may demonstrate a potential for a future health problem, but it does not mean there is a current health problem [3,4]. Fear must not replace knowledge .
1. Scott IA, Attia J, Moynihan R. Promises and perils of using genetic tests to predict risk of disease. BMJ 2020;368. doi: https://doi.org/10.1136/bmj.m14
2. Fleming RM, Harrington GM. What is the Relationship between Myocardial Perfusion Imaging and Coronary Artery Disease Risk Factors and Markers of Inflammation? Angiology 2008;59:16-25.
3. Fleming RM, Dooley WC, Chaudhuri TK. Breast cancer genes, breast cancer and FMTVDM-BEST©℗ imaging. Integr Mol Med 2017;4(6):1-2, DOI:10.15761/IMM.313.
4. Fleming RM, Fleming MR, Dooley WC, McKusick A. FMTVDM-BEST©℗ Breast Cancer Imaging eliminates the fear of having BRCA1 and BRCA2 Breast Cancer Genes. J Clin Mol Med 2018;1(2):1-2. DOI: 10.15761/JCMM.1000107.
5. Fleming RM, Fleming MR. The Importance of Thinking about and Quantifying Disease like Cancer and Heart Disease on a “Health-Spectrum” Continuum. J Compr Cancer Rep 2019;3(1):1-3 (Article ID 100011).
6. Fleming RM, Fleming MR, Chaudhuri TK, McKusick A. Cancer: Our Body’s Global Warming Warning. Biomed Research. Open Acc J Oncol Med 2019;3(1):238-239. DOI: 10.32474/OAJOM.2019.03.000154
7. Fleming RM, Fleming MR, Chaudhuri TK, Dooley WC. What is Cancer? Cancer Research in Oncology. 2019;2:1-4.
8. Fleming RM, Fleming MR, Dooley WC, Chaudhuri TK. Invited Editorial. The Importance of Differentiating Between Qualitative, Semi-Quantitative and Quantitative Imaging – Close Only Counts in Horseshoes. Eur J Nucl Med Mol Imaging. DOI:10.1007/s00259-019-04668-y. Published online 17 January 2020 https://link.springer.com/article/10.1007/s00259-019-04668-y
Competing interests: FMTVDM is issued to first author.
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.`  https://www.bmj.com/content/368/bmj.m14 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.` https://www.bmj.com/content/367/bmj.l5688` 
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. https://en.wikipedia.org/wiki/Caveat_emptor
The increasing practice of many kinds of `transactional medicine` , 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 https://www.bmj.com/content/368/bmj.m226/rr-2  to Helen Salisbury`s question, `Is transactional care enough?`. 
 Scott I, Attia J, Moynihan R. Promises and perils of using genetic tests to predict risk of disease.
BMJ 2020;368:m14 https://www.bmj.com/content/368/bmj.m14
 Horton R, Crawford G, Freeman L, Fenwick A, Wright FW,Lucasson A. Direct to consumer genetic testing. BMJ 2019;367:l5688 https://www.bmj.com/content/367/bmj.l56888
 Helen Salisbury: Is transactional care enough? BMJ 2020;368:m226
 Noor M Yousufzai. Rapid response 13th February 2020 https://www.bmj.com/content/368/bmj.m226/rr-2
Competing interests: No competing interests