Abstract
The understanding of molecular mechanisms brought about by the rapid expansion of
gene sequencing has helped to characterize molecular interactions underpinning normal
hemostasis and identify inherited and acquired risks for thrombosis and hemorrhage.
The widespread availability of molecular testing may serve to replace some currently
available investigations with more precise diagnostic tools and add to phenotypic
tests. Molecular studies will increasingly enable prenatal diagnosis, confirm difficult
diagnostic challenges, early intervention, and assist in prognostication. This approach
facilitates specific individualization of treatment options, with personally targeted
therapy expected to increase. There remain many challenges, however, in the clinic.
Prior to any test there should be consideration of how the results may influence treatment,
and also how they may affect the patient within their familial and social environments.
Massive parallel sequencing has the capacity to produce results that create uncertainty
that needs to be considered prior to testing. In this context, the potential benefits
of adding phenotypic and genotypic personal data to large databases should be discussed
with patients. There is a paradox in that personalized medicine is dependent on large
datasets to interpret the significance of genetic variation. This review will provide
an outline of specific current and emerging roles for molecular testing for the personalization
of care in the practice of thrombosis and hemostasis and highlight principles that
can be implemented as new opportunities inevitably arise with the rapid expansion
of knowledge from genomics.
Keywords
human genetics - genetic counseling - thrombophilia - inherited blood coagulation
disorders
