title: Low utilization of prenatal and pre-implantation genetic diagnosis in Huntington disease - risk discounting in preventive genetics.
abstract: Huntington disease (HD) 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 (J. D. S.) presented a methodology to perform pre-implantation genetic diagnosis in families at-risk for HD without revealing the genetic status of the at-risk parent. Despite the introduction of accurate prenatal and pre-implantation 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.
authors.affiliation: Genetics & IVF Institute, Reproductive Genetics, Fairfax, VA, USA.
authors.forename: J D
authors.initials: JD
authors.lastname: Schulman
authors.affiliation: Genetics & IVF Institute, Reproductive Genetics, Fairfax, VA, USA.
authors.forename: H J
authors.identifier: http://orcid.org/0000-0002-9366-2964
authors.initials: HJ
authors.lastname: Stern
mesh_terms: D005260:Female; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics* / Q000517:prevention & control; D008297:Male; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods; D011296:Prenatal Diagnosis / Q000379:methods; D012306:Risk
keywords: Huntington disease; PGD; prenatal diagnosis; reproductive options