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BY Shadine Taufik


Polygenic Testing and the Ethics of Complex Embryo Screening

Although embryo screening can be essential, unnecessary use of polygenic testing could potentially lead to genetic discrimination.

OCTOBER 26  2021


Last month, it was announced that the first child with a ‘polygenic risk score’ was born this year, perhaps signalling a start to the possible widespread adoption of such genetic technology. Four embryos were screened, and the one with the lowest chances of developing cancer, schizophrenia, heart disease, and diabetes was chosen.

Polygenic testing is a very recent development in assessing the genetic traits that an embryo may exhibit, based upon the genetic variants that it carries related to trait expression.

As technology has become more sophisticated and genetic sequencing easier and cheaper to carry out, it has become easier to map ‘complex’ traits or those which rely on groups of genes. This allows couples to produce several embryos through IVF, check which of the embryos exhibits the best genetic makeup, and implant the ‘winner’.

There is a current form of embryo screening available, which is already regulated by the Human Fertilisation & Embryology Authority (HFEA), a body concerned with assisted conception technologies. Preimplantation genetic diagnosis (PGD) allows IVF embryos to be screened for over 500 genetic diseases, all based upon a single gene. However, unlike PGD, the traits found through polygenic testing do not always end up manifesting in the offspring – it is not guaranteed. This means that it is not as accurate of a method.

PGT involves the use of an algorithm to ‘summarize the estimated effect of hundreds or thousands of genetic variants associated with an individual’s risk of having a particular condition or trait’. Polygenic risk scores are given based upon how likely they are to develop each disease screened.

Beyond genetic diseases, information about controversial characteristics such as height and IQ can be gathered from this form of testing. Worries emerge from the risk of creating a society of ‘designer babies’.

The popularity of DNA sequencing companies such as 23andme, MyHeritage DNA, and AncestryDNA shows that such testing can become popular with lowered prices, as individuals not only want to know their own genetic makeup but also that of their prospective offspring.

International company Genomic Prediction Clinical Laboratory currently offers up polygenic testing for £289 per embryo, on top of a £723 setup fee. Competitors Orchid and MyOMe also provide services.

Proponents of this believe that it will decrease human suffering, and lessen the burden on healthcare systems, positively impacting public health.

Ethical problems

CRISPR humans, with traits personalised and programmed by geneticists to create perfect humans, remain to be a product of futurism, but polygenic testing is now readily available and highly unregulated in most countries. Many countries only allow it to test for the probability of developing disorders and conditions. However, this must be further addressed to ensure that individuals do not take advantage of this technology for unnecessary, superficial purposes.

Some critics feel that determining which embryos should live or die based upon genetic traits is a form of parent-led eugenics.

Most genetic information gathered is also Eurocentric, and markers for health are rooted in this population. Those of other ethnicities may not benefit as much from this, and health disparities may worsen between races.

As mentioned previously, scores are mere probabilities and not guarantees, and IVF embryos derived from the same set of parents often have very minimal genetic differences. Additionally, factors of nature are not the only ones shaping a growing child – nurture and chance play as big of a part. Lifestyle choices such as diet, exercise, or chance exposure to different conditions could mean that individuals brought into the world through polygenic testing could still experience screened diseases in later life. The uncertainties of this method and marginal benefits of screening simply make it irrelevant to many.

Prior to this, Genomic Prediction has provided services to measure the genetic probability of ‘intellectual disabilities’, though due to the controversial nature of this, have discontinued this offering. It is highly likely that this will again be launched in the future once PGT becomes more commonplace, along with a myriad of trivial characteristics such as hair and eye colour or build.

Not only can PGT cause further disparities between the rich who can afford it and the poor who cannot, but it can cause discrimination. Screened babies could be deemed as superior to unscreened ones. Additionally, like those that reject prenatal screenings or amniocentesis, mothers who do not wish to undergo PGT may be socially rejected or pressured as it becomes the new norm.

How can we ethically proceed?

Further studies need to be conducted on the accuracy, implications, and risks of PGT – it must be considered as being in its early research stage, not its public, commercial one.

Additionally, it should be heavily regulated to only allow only absolutely life-complicating diseases to be screened, as the inclusion of vain characteristics could lead to a society hyper fixated on looks and artificial intelligence – giving rise to true, unethical eugenics and the bastardisation of an ‘inferior’ genetic makeup.

Lastly, this should be a service offered up to parents free of charge to minimise wealth inequality as much as possible.


About the Author: Shadine Taufik

Shadine Taufik is a contributing Features writer with expertise in digital sociology and culture, philosophy of technology, and computational creativity.

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