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N° 124 :



 In April 2013, CCNE published an Opinion (N° 120) on “Ethical Issues in Connection with the Development of Foetal Genetic Testing on Maternal Blood”.  The Committee emphasised at the time that this would be the first step in a more extensive appraisal of the whole subject of wider use of high throughput DNA sequencing and its medical and societal implications.

In that Opinion, CCNE observed[1] that in the near future it could become technically easier, and probably cheaper, to do so-called whole[2] genome sequencing than to select short regions of interest for targeted sequencing.  At this time, such developments could, and in fact should, be the subject of a progress report.  Identifying a mutation or another genomic anomaly (of a chromosome for instance) causing a disease is a necessary scientific and medical first step so that the expectations of families falling victim to a genetic disease can be satisfied (‘naming the disease’ is part of the therapeutic process[3]).  It is also the gateway to perceiving, in the medium or the longer term, possibilities for treatment or even the cure of diagnosed genetic diseases or disabilities.

Genomics in this era of very high throughput DNA sequencing plays a role in the creation of gigantic health related data bases (‘big data’) raising considerable ethical challenges, particularly as regards the right to privacy.  Furthermore, growing knowledge and understanding of the genome pave the way for increasingly specific and sophisticated procedures involving human DNA[4], which cannot fail to raise vast ethical issues both as regards somatic cells (cellular gene therapy) and reproductive or embryonic cells (germ cell gene therapy).  CCNE has already started on a review of these two subjects but wished to devote this Opinion to consideration of genetic testing developments made possible by very high throughput DNA sequencing.

Technical progress already achieved or currently in the making in the field of human genomics stands at the meeting point between fundamental research and clinical medicine, so that it has an impact on many aspects of the lives of individuals, families and communities.  CCNE proposes to devote some preliminary thinking on the conditions to be observed for a regulatory system to be both effective and respectful of individual rights.

[1] There was no intention of moral judgement in this observation.

[2] In fact, the whole DNA of an individual is rarely sequenced except for research applications.  The ‘whole genome’ wording is used in reference to sequencing very large areas of the genome on a non selective basis.

[3] Audition of Prof. Arnold Munnich, 12/05/2014.

[4] Sometimes referred to as ‘correcting’.