New DNA sequencing methods will soon make it possible to identify all
germline variants in any individual at a reasonable
cost. However, the ability of whole-genome
sequencing to predict predisposition to common diseases in the general
population
is unknown. To estimate this predictive
capacity, we use the concept of a “genometype”. A specific genometype
represents the
genomes in the population conferring a specific
level of genetic risk for a specified disease. Using this concept, we
estimated
the capacity of whole-genome sequencing to
identify individuals at clinically significant risk for 24 different
diseases.
Our estimates were derived from the analysis of
large numbers of monozygotic twin pairs; twins of a pair share the same
genometype
and therefore identical genetic risk factors.
Our analyses indicate that: (i) for 23 of the 24 diseases, the majority
of individuals
will receive negative test results, (ii) these
negative test results will, in general, not be very informative, as the
risk
of developing 19 of the 24 diseases in those who
test negative will still be, at minimum, 50 - 80% of that in the
general
population, and (iii) on the positive side, in
the best-case scenario more than 90% of tested individuals might be
alerted
to a clinically significant predisposition to at
least one disease. These results have important implications for the
valuation
of genetic testing by industry, health insurance
companies, public policy makers and consumers.
http://stm.sciencemag.org/content/early/2012/04/02/scitranslmed.3003380
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