Predictive testing is typically offered to individuals without apparent symptoms, guided by a thorough family history and personalized risk assessment. Prior to undergoing predictive testing, it is essential to ensure that the affected individual in your family has a confirmed diagnosis of Huntingtinton’s disease following a thorough examination by a specialist team and a confirmatory molecular testing.
For individuals presenting symptoms suggestive of an adult-onset neurological condition, establishing a baseline neurological evaluation is crucial before a clinical geneticist order testing for the faulty Huntington protein (HTT protein).
Due to the complexity of environmental and genetic factors influencing disease progression, the gene-symptom correlation varies between individuals. Even with a repeat number similar to their parent’s, some individuals may never develop symptoms or experience onset later in life, unrelated to their parent’s timeline.
In addition to the mentioned conditions, extra caution is exercised for predictive testing in adult-onset Huntington’s disease, available only to individuals over 18. Due to the profound repercussions of these results, careful measures are taken, including referral to psychological counselling. The mental health status of the person receiving the news is assessed, and test results are kept confidential unless the individual provides consent to share with family.
Choosing predictive testing is a deeply personal decision, one that should be made after a thorough understanding of the complexities associated with testing for a progressive adult-onset neurological condition.