New genomic technologies, PGD/Prenatal Genetics and society

Posted by & filed under Exome sequencing, Part 03: GENERAL THEMES, Part 06: DIAGNOSTIC APPROACHES.

As in every other field of science, the experts in medical genetics should collaborate closely with policy and law-makers to guide the usage of the new technologies. This is particularly important at present time in the context of the advancement of genomic technologies.

A recent article by Farra et al. (retrospective cohort study) published in Clinical Genetics illustrates how pre-implantation genetic testing (PGT) was used in Lebanon from 2007-2007 in the absence of monitoring and regulation. 96.3% of the clinical indications for the 192 PGT cycles performed during the study period were gender selection. The authors conclude that the findings of this study identify some weaknesses “of self-regulated systems in which physicians are the sole gatekeepers of norms and ethics”.

In the context of the current and projected difficulties with interpretation of variants identified by Next Gen panels or Whole Exome Sequencing, WES, developing specific policies as to how the information is used would be very important to guide both the private sector and physicians. One can argue that self-regulated systems can work, as long as there is appropriate representation in the committees making and enforcing the decisions.

Should physicians be involved in discarding embryos or aiding a couple to terminate a pregnancy for gender status? What about for diseases with non-severe phenotype?  Who should define what phenotype is mild or severe?

Should physicians with a VUS (variant of unknown significance) with inadequate evidence for pathogenicity be offering PGT or prenatal testing as per family’s wishes? Who should be deciding if the evidence is adequate?

When trying to answer these questions one definitely needs to factor in that WES may soon become widely used in clinic as a screening genetic test, that multiple such variants will be identified in each family, and that the classification of some variants may change over time.

Reference: The utilization of pre-implantation genetic testing in the absence of governance: a real-time experience (pages 177–180) C. Farra, A. Nassar, T. Arawi, H. Ashkar, C. Monsef and J. Awwad Article first published online: 2 SEP 2013 | DOI: 10.1111/cge.12250

Posted by Yannis Trakadis, MD

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