Low Utilization of Prenatal and Preimplantation Genetic Diagnosis in Huntington Disease - Risk Discounting in Preventive Genetics.

Schulman JD1, Stern HJ.

Author information

Abstract

Huntington disease is a late-onset, fatal neurodegenerative disorder caused by a (CAG) triplet repeat expansion in the Huntingtin gene that enlarges during male meiosis. In 1996 in this journal, one of us (JDS) presented a methodology to perform preimplantation genetic diagnosis in families at-risk for HD without revealing the genetic status of the at-risk parent.3 Despite the introduction of accurate prenatal and preimplantation genetic testing which can prevent transmission of the abnormal HD gene in the family permanently, utilization of these options is extremely low. In this article, we examine the decision-making process regarding genetic testing in families with HD and discuss the possible reasons for the low uptake among this group.