Genetic screens—what’s the prognosis?

Sequencing the whole genome could provide a medical early warning on a previously unknown scale – but could it also bring dilemmas?

The price for whole genome sequencing is dropping sharply and is now under $1000—the issue discussed in the Science Online NYC/ Technica roundtable recently held in NYC . A few years ago, only a handful of labs had access to sequencing technology, but now such technology is almost ubiquitous. The $1,000 genome, while it has been talked about for a long time, will simply be a point on the way to a $100 genome or a $10 genome, “and finally to the point where the value of the information generated is far more important, scientifically and commercially, than the cost of generation.

Why should we have our genome unzipped? We might want to be part of a research trial. But more than likely, we’d do for medical reasons and in many cases with the backing of our medical provider: to help us understand our genetic vulnerabilities or as part of pre-natal or fetal screening. Will cheaper sequencing technology affect public health and what we could learn about diseases to help the sick? There will be challenges in sorting out the utility of genomic sequencing and figuring out who should be doing it—informed consent, storage of genomic data, what to do about incidental findings and preventing genetic discrimination. Despite these hurdles, it’s clear that cheaper sequencing will be useful for a number of reasons.

That moment is almost here. According to New Scientist’s Harriet Washington, separate research teams at Stanford University and the University of Washington in Seattle announced new techniques that enables the construction of a genetic “blueprint” of the developing fetus from as early as the first trimester that could be ready for mass use as early as 2017. In many ways, it would be welcome news, as it would avoid the 2% risk of miscarriage posed by today’s most common antenatal genetic tests, amniocentesis and chorionic villus sampling.


But the real world impact of such tests are complicated to figure out. Today, only around 5 per cent of women who have prenatal tests receive bad news. Full genome screens will detect many more problems – and will introduce much more uncertainty because whole-genome mapping predicts the mere possibility of disease. Not all genetic anomalies are expressed as pathology.

As the New York Time’s Gina Kolata noted in her excellent report on this thorny issue, The question of how, when and whether to return genetic results to study subjects or their families is one of the great current challenges in clinical research. Stay tuned.





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