Is modern genetics a blind alley? Yes

In discussing the practical benefits of modern genetics, James Le
Fanu states
that the prevention of monogenic disorders through antenatal screening is
limited to thalassaemias and Tay Sachs disease. In fact, where any
causative
genetic mutation is known within a family, it is now routinely possible to

perform antenatal testing through amniocentesis or chorionic villus
sampling
to look for the same mutation in a fetus. In most cases it is therefore
technically possible, though of course not always appropriate, to
prenatally
diagnose any monogenic disorder for which there is a known mutation.

Furthermore, a notable omission in this article is a discussion of
the impact
of clinical genetics practice on patients and their families. Thanks to
our
increasing genetic understanding and the availability of ever improving
diagnostic techniques we are now able to offer more effective genetic
counselling based on better information. This allows patients and their
families a more informed choice in how to manage their genetic conditions,

whether this takes the form of prenatal testing in pregnancy or whether
individuals opt for predictive testing for an adult-onset disorder such as

Huntington's Disease or BRCA-associated breast cancer.

While it is true that gene correction therapies have been slow to
translate into
clinical applications, it does not follow that such strategies will never
deliver
results. Genetics is at a pivotal point in its growth as a science, with
several
parallel technologies now reaching a critical mass level in their
development.
Microarray technology, next-generation whole-genome sequencing, an
understanding of epigenetics and increasing knowledge of genetic control
mechanisms and gene manipulation are all poised, not perhaps to
revolutionise the front line management of common disorders but instead to

provide a uniquely integrated system with which to answer fundamental
questions about biology and disease, while at the same time aiding
diagnosis
and enhancing management options for the individual patient.

There can be no such thing as a truly blind alley in science as
knowledge will
always have a value. Genetic research is producing new information and
new
results at an unparalleled rate which will indeed be difficult to
interpret and
understand. But not to continue investigating and understanding this
information simply because of its complexity would be an anathema to both
science and medicine and would signal the true death of intellectual
inquiry.

Competing interests:
None declared