Genetic susceptibility testing

Molecular genetic testing for malignant hyperthermia susceptibility.

BACKGROUND For more than 30 yr, the in vitro contracture test (IVCT) was the only appropriate diagnostic tool for malignant hyperthermia (MH). After the introduction of molecular genetics into MH research, guidelines for molecular genetic diagnosis of MH susceptibility were published. The aim of this study was to establish applicability of the guidelines, sensitivity, and specificity of genetic...

Personalized genetic testing and norovirus susceptibility

BACKGROUND The availability of direct-to-consumer personalized genetic testing has enabled the public to access and interpret their own genetic information. Various genetic traits can be determined including resistance to norovirus through a nonsense mutation (G428A) in the FUT2 gene. Although this trait is believed to confer resistance to the most dominant norovirus genotype (GII.4), the spect...

A Counselling Model for BRCA1/2 Genetic Susceptibility Testing

When BRCA1/2 genetic susceptibility testing was introduced in the clinic in the mid-nineties, the "Huntington protocol" was used in the counselling of individuals applying for genetic testing. This protocol includes at least three sessions with a certain reflection period before blood sampling. Evidence on the psychological impact of BRCA1/2 genetic susceptibility testing has been accumulating ...

Risk communication in genetic testing for cancer susceptibility.

Risk communication is an integral part of genetic counseling and testing for cancer susceptibility. This paper reviews the emerging literature on this topic. Three relevant aspects of risk communication are addressed: communication of individual risk, communication of the risks inherent in genetic testing, and family communications related to risk. These studies suggest that (a) most individual...

Genetic Testing for Inherited Susceptibility to Colon Cancer, Including Microsatellite Instability Testing