Scott D. McLean, MD

Today I saw a LinkedIn post that startled me.

“Starting today, mandatory genetic testing will be part of the premarital screening program in Abu Dhabi.  This initiative is both exciting, and vital – in the UAE there are nearly 2.8 million individuals that are affected by rare diseases. That’s one quarter of the country’s population.

This program is the first of its kind implemented at scale, marking a crucial step in protecting the health of future generations.  By screening individuals before they get married, we’re improving our ability to identify a wider range of genetic conditions beyond just inherited blood disorders.

And with access to health data from the Emarati Genome Program, we will help people make informed choices before starting a family, tailored to our community’s specific needs.  Couples will be screened from the current 2 genetic disorders to over 840, giving them valuable insights into their health.  And rest assured: we have been studying this initiative for a substantial period of time; all ethical considerations have been taken into account and no marriages will be stopped.”

With the caveat that in much of the developed and developing world newborn screening is often mandatory, no other nation has mandated germline genetic testing, either premaritally or in any other scenario. Why not? The ascendant ethical position has long been that genetic testing should be an informed choice. The route to an informed choices is not trivial. This ideally requires that the individual being tested understand the disease in question, how the disease might be caused by a deleterious genetic variant, the inheritance pattern, the availability of treatment, the options for prenatal diagnosis, as well as the few rare but important surprises that might be discovered with a genetic test. These include unexpected consanguinity and non-paternity.

Given that couples from Abu Dhabi may have significant consanguinity and that the burden of rare disease merits public health concern, genetic testing seems logical. No marriages will be stopped. Will pregnancies? Many options might be available – a decision to not procreate, adoption, prenatal testing by amniocentesis, IVF and preimplantation testing, pregnancy termination. Would any of these be mandated? What would be the measure of the success of the public health campaign – a reduction in the number and frequency of individuals with recessive genetic disease?

As interesting and demanding as these questions are, the elephant in the room is eugenics. This is not to say that the world has side-stepped eugenic thinking and practice entirely since Cold Spring Harbor in the US and the Final Solution in Wehrmacht Germany. Indeed, Jennifer Doudna, who received the Nobel Prize for her co-discovery of CRISPR, anticipates that germline genetic manipulations might be inevitable. Newborn screening seems to be slowly moving toward an entirely genomic testing paradigm. Naturally, our thoughts turn to the business of genetics, especially the promise of wealth mined through a seemingly endless capacity for genetic testing.

More genetic testing. We celebrate it. When it becomes compulsory, either by governmental mandate or by the irrepressible enthusiasms of fiscal heavy hitters in the health care system, genetic testing becomes eugenic medicine.

Our thought leaders need to be familiar with more than the ROI.