1993-2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa

Abstract

BackgroundPredictive testing for Huntington's disease has been available at the Medical Genetics Unit of the University of Genoa from 1987. In 1989, an integrated counseling protocol (geneticist, psychologist, and neurologist) was developed following International Guidelines.MethodsThis is a retrospective analysis of the clinical charts and motivation questionnaires of persons seeking predictive testing through direct DNA analysis from 1993 until 2014, with the aim to evaluate their individual characteristics, motivations, and the outcomes of the counseling protocol.ResultsA total of 299 persons (164 women, 135 men) applied for predictive testing. Most applicants’ features and motivations were similar to those previously described, but surprisingly the percentage of completed protocols was higher among men, 68.5% versus 53.5% (P = 0.011). Likewise, persons over 25 years of age were more likely to take the test than younger applicants (18–25 years): 63.4% versus 48.1% (P = 0.043). In addition, relationship status, having children, and the gender of the affected parent showed different effects on the decision about testing in males and females. No catastrophic reactions were reported during the study period.ConclusionsWe observed that factors influencing the decision‐making process might differ between males and females, and that predictive testing appears a safe procedure if framed within an integrated counseling protocol.

Investigating the role of genetic counseling in neuromuscular disease considering life events

“…This gender bias may explain why pregnancy and desire to bear a child comprised most of the motivations for GC sessions. Most clients were aged between 20 and 30 years (75.5%), which is consistent with previous reports that the predominant age range of clients undergoing GC for a pre-symptomatic diagnosis is between 20 to 39 years old 15,19,20 . This young age encompasses the time when most individuals consider marriage and try for a child.…”

Genetic counseling and testing practices for late-onset neurodegenerative disease: a systematic review

“…After testing, two studies recommended offering additional appointments to provide further education about the condition and discuss risk perception and beliefs [ 36 , 37 ]. Sixteen studies encouraged the client to attend short or longer-term psychological follow-up sessions, either if a pathogenic variant was confirmed [ 26 , 28 , 38 ], regardless of the result [ 27 , 30 , 33 , 39 – 48 ], or if requested or required based on pre-test discussions [ 46 , 49 , 50 ]. Acceptance of follow-up varied, with up to 80% of participants choosing to proceed with post-test psychological follow-up in two studies on predictive testing [ 38 , 49 ], and none proceeding in two other studies in predictive [ 43 ] and reproductive testing [ 51 ].…”

“…In some practices, clients were required to complete structured psychological or psychosocial surveys [ 30 , 31 , 33 – 35 , 40 , 43 – 45 , 50 , 52 ], or disease-specific neurological or objective knowledge measurement tools [ 30 , 53 ] in addition to, or instead of, a formal neurological or psychiatric/psychological assessment (Table 3 ). Health providers recommended deferring testing in some studies if high risk of future clinical distress [ 31 , 33 , 35 , 41 , 43 , 45 , 46 , 52 , 54 ], problematic motivation [ 31 , 49 , 54 – 56 ], or the absence of a support system [ 31 , 52 , 54 ] were identified. One case series highlighted three situations where individuals still underwent predictive testing despite having high-risk psychopathology [ 55 ].…”

Hereditary transthyretin amyloidosis overview

“…Protocols for pre-symptomatic genetic testing (PST) of lateonset inherited disorders are available since many years, including that for genetic testing and management of individuals at risk for ATTRv [52][53][54].…”