2019
DOI: 10.1055/s-0038-1677020
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Genetic and Molecular Testing in Thrombosis and Hemostasis: Informing Surveillance, Treatment, and Prognosis

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 diagnost… Show more

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Cited by 4 publications
(3 citation statements)
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“…Having a genetic test result identifying a mutation impacts the perceived quality of life, generates a psychological burden on the patient and their family, as well as potential stigma and discrimination, inclusive of medical and life insurance. 14,53 Unless handled well, for example, with involvement of experienced genetic counseling, concern regarding effects on offspring, and whether to consider termination, may also become a consideration. As reflected in another contribution in this issue of the journal, "the clinical impact of a positive test may be overstated if patient selection is poor and interpretation is not contextualized by the risk seen within the family."…”
Section: Discussionmentioning
confidence: 99%
See 2 more Smart Citations
“…Having a genetic test result identifying a mutation impacts the perceived quality of life, generates a psychological burden on the patient and their family, as well as potential stigma and discrimination, inclusive of medical and life insurance. 14,53 Unless handled well, for example, with involvement of experienced genetic counseling, concern regarding effects on offspring, and whether to consider termination, may also become a consideration. As reflected in another contribution in this issue of the journal, "the clinical impact of a positive test may be overstated if patient selection is poor and interpretation is not contextualized by the risk seen within the family."…”
Section: Discussionmentioning
confidence: 99%
“…As reflected in another contribution in this issue of the journal, "the clinical impact of a positive test may be overstated if patient selection is poor and interpretation is not contextualized by the risk seen within the family." 53 Due to the ease of access, testing for thrombophilia is less commonly accompanied by appropriate pre-and posttest counseling. 9,53 Early adoption of testing for FVL and PGM promised to identify individuals at risk of recurrence for targeted further intervention, but subsequent data have not supported such an approach.…”
Section: Discussionmentioning
confidence: 99%
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