The 2020 follow-up questionnaire (paper-based or online) asked whether participants ever had any genetic testing (Yes; No; Don’t know/don’t want to say), and if so, what the genetic testing aimed to ...

I treated a 42-year-old woman with metastatic ovarian cancer. She chose not to reveal it to anyone, including her family. Should her 26-year-old younger sister have been informed, given she might have ...

Genetics is a rapidly evolving field with the potential to achieve improved health outcomes through precision medicine. People with intellectual disability have asked to know more about genetic ...

Genomic sequencing technology allows for identification of reproductive couples with an increased chance, as compared with that in the general population, of having a child with an autosomal recessive ...