Huntington's disease - Genetic test

I say strangely, because Huntington's disease is "autosomal dominant" and doesn't skip generations. But the patient is rarely shocked by this blatant incoherence. And if he is and contests the negative result given orally, the doctor sends him a written copy of the laboratory analysis, showing clearly the intermediate result. The laboratory is beyond reproach since it made the test and its interpretation according to specific guidelines (for example, those of the European Journal of Human Genetics (2013) 21, 480-486). It can also claim that every year it successfully joins the quality control schemes for Huntington disease made by the European Molecular Genetics Quality Network (EMQN). As for the doctor, he takes great care to never comment the result in writing. He just writes that he sends the laboratory documents, but never writes himself whether the result is positive or negative, so as to be beyond reproach him as well. It's the standard technique used when one doesn't want to give the right result to a genetic test. A medical error

I think I've been the victim of a medical error. I took my test in the same hospital where I gave my blood sample twenty years ago. So, the geneticist who received me probably knew the value of my genetic abnormality. He made his first consultation with the preconceived idea that I was already very ill. He spoke to me as if I was a mentally handicapped person, asserting that I had nothing, and that if I had involuntary movements, it was precisely a sign that I didn't have the disease. At a certain point, he even turned towards his intern to tell him "He still smiles", showing him that I was not yet in the phase where the patient looks dazed and doesn't smile anymore. The doctor was speaking in front of me as if I wasn't there, most likely thinking that I had already lost my cognitive abilities. It was with this misconception about me that he took the decision from the outset to give me a negative result. He even told me that, with what he defined as mild tics, I could live without problems until my retirement. At that time I was 56 years old, I was sporty, non-smoker, physically and mentally on top form. This geneticist seemed still convinced that I didn't have many years to live in good health. He didn't carry out the basic checks on my mental state. It was a real medical error.

A year later, I sent to this doctor a letter by certified mail, to inform him that for three years my movements had disappeared thanks to high doses of folic acid, and that it was for that reason that I wanted to get in writing the real positive result of my test. The doctor could then have admitted having given me a softened oral result, for the sole purpose of reassuring me. And he could have agreed to give me the true value of my genetic abnormality, as my case might seem interesting to study. But he did nothing of that kind. He sent me the copy of the laboratory analysis, showing the intermediate result of 28 CAG repeats, which would have us believe that I cannot myself develop the disease, while being able to transmit it to my descendants. This result absolutely incoherent and unacceptable, the doctor himself has of course never confirmed it in writing, thus applying his professional guidelines without further consideration.

How my result ridicules the laws of genetics!

The principle of an intermediate abnormality is likely to be applied also for other hereditary genetic diseases, as Huntington's disease is cited as an example for the quality of its communication protocols. But for the average patient, it is inconceivable that a deliberately biased result can be given to such a crucial genetic test, and what's more with written evidence from a laboratory. It's a profound attack on people's freedom. Because what doctor can be sure at 100% that there are no possibilities of preventing the fatal outcome? Is it up to the doctor to decide what the patient's life will be, hiding the true value of his genetic abnormality? Does not lying to the patient mean condemning him to death? Because it's leading him to live his life without worrying about possible aggravating factors, without paying attention to his first symptoms, without perhaps being able to discover by chance ways to slow down the progression of his illness. It's not up to doctors to decide that there is no treatment! They should just say that there is no known treatment. And if the patient makes the express request, reveal the truth about his genes, so that in the end he remains master of his destiny.

The different steps I took

I have since tried to assert my right to obtain the true result of my genetic test, so that researchers can take an interest in my case. But the situation seems at a standstill. All the laboratories, whether in France or in the world, have undoubtedly authorizations to ask for this test, and they are probably made aware as soon as a person has already been tested, in order to always give the same result. I tried to complain to the officials of a medical defense organization. But they told me that the intermediate result was clear, that they didn't have to intervene, and that in any case zero risk did not exist. Even lawyers seem completely powerless in the face of my request. And for a very good reason, it's the law itself which authorizes the principle of false results for genetic tests. Here is an extract of an old article in the French Public Health Code, which deals with the topic:

Extract from Article R145-15-14 ..... Exceptionally, for legitimate reasons and in the interest of the patient, when the latter has symptoms, the prescribing physician assesses the appropriateness of not communicating the results of the examination of genetic characteristics to the person concerned, or to the person with parental authority if the patient is a minor, or to his legal representative if the patient is an adult under guardianship.

This old article made it clear that the prescribing physician was allowed to lie about the test result. Because if the text said "do not communicate the result of the examination", it was hard to imagine how the doctor could say "No, finally, I don't give you the result" without alarming the patient more than is reasonable. It seemed logical then to think that he preferred to give a false or softened result. This surprising practice has become explicitly contrary to the right to transparency introduced by the Law of 4 March 2002. The article was therefore repealed in 2003 and replaced by Article R1131-19 of the Public Health Code, written in a much more vague form, so as not to disclose to the citizen that the doctor was allowed to lie about the examination of his genetic characteristics:

Extract from Article R1131-19 ..... The prescribing physician communicates the results of the examination of genetic characteristics to the person concerned, or (if applicable) to the persons mentioned in the second paragraph of Article L 1131-1, during an individual medical consultation.

It's the law that allows genetic tests. And when it comes to predicting for sure a serious illness, with all the ethical issues it raises, it is normal to place severe restrictions on it. The law apparently gives the doctor full powers to decide whether or not to give the true result to the person concerned. It is certainly a wise precaution. But no one seems to have foreseen the case of a doomed patient who has been reassured by a negative result, and who ends up showing unexpected resistance to the disease. How can medicine then be interested in his case, since it categorically denied that the person could one day become ill? And isn't this giving the doctor too heavy a responsibility? If he is wrong in his decision not to give the right result. If he is subject to conflicts of interest that drive him to hide from the rest of the medical community this case of unexpected resistance. Has the patient any recourse against this decision? He cannot even turn to another specialist, since they all are obliged to respect the diagnosis of the first doctor, for fear of disclosing the deception of the false result. In what other field of medicine do we have no right to an independent second opinion?

Non-commercial research

I think, but this is only my opinion, that we see here one of the failings of a medical research organized like a commercial firm, with millions invested and profitability objectives comparable to those of industry and commerce. In this context, researchers do their best to find treatments for various diseases. But it would be wrong to say that they are doing all what is humanly possible, and that they are really exploring every avenue of treatment. They have neither the time nor the means for that. It is necessary, in addition, that other researchers work in certainly less profitable and less rewarding directions, more focused on the prevention and the observation of the various forms of evolution of the different diseases. Besides, these researchers exist. We sometimes read their articles in the medical pages of major newspapers. These researchers are not paid by the pharmaceutical industry and have no hope of finding the miracle product that will make their fortune. No, they try to group data, to understand what genetic, environmental or behavioral factors may affect the onset or development of a particular disease.

This non-commercial research is important too. Look at my personal case. Even if one can question my word, there are at least 3 indubitable points: (1) my genetic abnormality; (2) the fact that I'm still fine, which can be proved by a simple medical examination; and (3) the illness of my father, who died at age 66, and that of my grandmother who died at age 65 and a half. The latter spent the last years of her life confined to a wheelchair, unable to move and do anything. As far as I can remember, I've never understood a single word of what she was saying, so much her mouth, lips and tongue were shaken by uncontrolled movements. Doctors know that. If we put these three elements together, it is obvious that at 62, I show a much greater resistance to the disease than my two relatives. It is imperative to understand why. It is essential for the other patients, who could perhaps, by a small change in their habits of life, succeed in maintaining their good state of health for a few more years. Who said it was insignificant, that it didn't deserve any attention? I personally don't agree with that!

Well now, I don't really know how the law can ever solve the problem. Doctors will probably let me die of old age, this disease or any other cause without ever, never record my case in medical annals, never ask questions, never carry out experiments, never try to check my various observations. All that because a geneticist was wrong and decided by mistake to give a false result to my genetic test.

And yet, if we put the interest of the other patients above all, there must be a solution. Ladies and gentlemen lawyers, it's up to you to be imaginative!

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