Bioethics: Black clouds or age of enlightenment?

Genomics: huge progress with consequences

Jean-Claude Ameisen  is a real mystery ; how can he get front activities, from being chairman at the National Consultative Ethics Committee to  its always interesting chronicles on France Inter? But there, he will probably have to devote much of his time and intellect to the ethical problems as challenges, opportunities or potential issues related to advances in molecular biology are incredibly increasing. With this simple data, to be transmitted to economists who think that productivity is stagnating and that it is the primary source of our economic problems: between 2003 and 2013, the time and cost of the reading of the human genome has been divided by two millions !

Firstly, genetic testing. This year, in February, the FDA approved the first over-the-counter genetic screening test: it allows the detection of Bloom syndrome, a rare inherited disorder that causes stunted growth and a high risk of cancer. Simultaneously, the same FDA forbade the company 23and me, linked to Google, to market predictions on the predisposition to diseases or the reaction to certain medications. 23 and me offers genotyping in free access: a drop of saliva, $99, and you have your genotype. To do  what? As 23andme is prohibited (probably temporarily) to communicate on medical topics, it will communicate you data on your ethnic origin, the possible presence of parents away in some regions of the globe, migration etc... 23andme has already interested more than 900,000 customers.

The right to know

As usual, the french National Consultative Ethics Committee seems to have an attitude quite careful, no to say reactionary, on these subjects. This is evidenced by the interview of one of its members in Le Monde from May 6, 2015. Pr Gaudry justifies the decision to stop the activity of diagnosis of 23andme. First, crime of crimes, 23andme is a commercial enterprise ; It sells its genetic data to companies, for example to help research against Parkinson's disease. Anonymity is respected, no client does not suffer from any damage and research benefits of data that it could not obtain otherwise; but this is apparently a serious problem. Another argument: tests sell predictions without certainties, and "in medicine, probabilistic messages are difficult to understand”. Difficult for patients to understand or difficult to explain for doctors? Why decide instead of patients? "What to do if there is no satisfactory treatment”? Or trickier still, where there is a possibility, it is a “preventive dilemma” which arises. Thus, “all carriers of the gene BRCA1 or A2 would ask for removing both breasts, both ovaries and fallopian Falloppe?". ( it is estimated that BRCA1 cause an atmosphere of 60% of developing breast cancer before age 60). Pr Gaudry moderates fortunately: "the reading of the tests must remain intelligent, modulated and respectful." Indeed, but why prohibit patients have recourse? Without going to the surgical ends, a woman could, freely and well informed, choose, or not choose,  for example, to follow substitution hormone therapy for menopause.

Pr Gaudry concludes that the risk would “call into question the right of patients to do not know “. In the meantime, it is the right of patients to know that is denied – and knowledge means freedom. It must be said that, of course, the french medical community is not unanimous, and even quite divided. Thus, Jean-Louis Mandel, Professor of Genetics at the College of France, is concerned about the absence in France of debate on the subject and “does not understand the violent opposition of most of his colleagues” to services offered by 23andme. He has his own genome analyzed by this company in order to judge the quality of the tests and the explanations provided, and he was rather satisfied. Thus, he discovered that he was a healthy carrier of the cystic fibrosis gene and advised his daughter to be tested as well as her husband. Were they both carriers of the gene, their child would have had 25% risk for this serious disease; whatever the decision will be, it is definitely a type of information that you should be able to know if desired. He also discovered that he has a gene for susceptibility to age-related macular degeneration (AMD). As tobacco is a aggravating factor for this disabling condition (blindness), he could, if he was smoking, choose to stop or continue. Finally, Pr Mendel learned that he had increased sensitivity to warfarin, an anticoagulant which overdose leads, and quite frequently, to serious vascular accidents; This is an extremely useful and usable information which, in the event of treatment, should lead to enhanced surveillance and lower doses. Even in the case of predisposition to Alzheimer's disease, for which there is a gene (apoE4) that entails a risk multiplied by ten for carriers of two copies, even in this case where there is no known prevention or treatment, Pr Mandel points out that a young patient may prefer to know nothing; but an elderly patient may make a different choice to prepare for his life and that of his family in the event of problem. After hesitation, he chose the outcome for himself. He underlines that the presentation of the results by 23andme is extremely well made, informing patients and encouraging them to think before taking knowledge of each result. It is also one of the advantages of medical education in the USA to include an important part of learning to dialogue with patients; and that is what is missing in France, and would perhaps change the vision of many french doctors if it benefited during their studies of similar training.

Lastly, Dr. Mandel pointed out one of the many absurdities of our system; for cystic fibrosis, it is considered unethical to offer the opportunity for the parent to test their predisposition. But if they have a sick child, a pre-natal test for the following children is fortunately encouraged

An untenable position

The French position is untenable; It is legally untenable, because you can already foresee the day where a couple will sue the State for having denied them the possibility to be warned of a risk of predisposition; or, more convincing, the victim (or relatives) of an embolism under anticoagulant for not having had access to a test inexpensive and available which could have avoided this tragedy; It is ethically untenable, because it is not ethical to deny to those who so wish the way to avoid harm or tragedies, or even just to reduce the risk by informed and voluntary choices of life.

Yes, the National Ethics Committee is going to have a lot of work, and it would be urgent and welcome that it gives less room to mandarinal (what’s the english word for this?, significantly, I do not easily find an equivalent),  infantilizing and/or religious considerations, and gives  more to the desire of people  to master and be possessor of their life, to freedom and responsibility that give knowledge. In short, in the field of bioethics, it’s time to leave the minority age to enter into  adulthood – the enlightment age of biology. Are there problems? Yes, and the least of the problems, the least of the scandals wouldn't be that right to know for patients would become available for state organizations,  insurances, loans, banks, companies…while it would stay denied to patients to know for themselves…