Researchers suggest that people with a family history of familial amyloid polyneuropathy (FAP) who have psychological problems like distress and paranoia may benefit from psychological support before diagnostic testing.
Researchers set out to identify factors linked to middle- and long-term psychological problems for Huntington’s disease and FAP in a group of people who underwent pre-symptomatic testing.
Also known as predictive testing, pre-symptomatic testing is conducted in people with a family history for a certain genetic disease but have not shown any symptoms at the time of testing.
They evaluated clinical records of people who performed pre-symptomatic testing at least three years ago and answered to the two stages of evaluation — before the test and after the test, with at least three years after they were made aware of the results.
Researchers focused on psychological factors such as distress, psychoticism, somatization (manifesting psychological distress by presenting bodily symptoms), and paranoia.
Participants were asked to complete a questionnaire and respond to three psychological tools.
The analysis included 196 participants (average age 37 years, age range from 21 to 78). More than half of the participants (58%) were women and on average 6.5 years passed after patients underwent pre-symptomatic testing (ranging from three to 11 years).
In the group at risk for FAP disease, 58% of those tested were identified as carriers of the genetic mutation that causes the disease.
The analysis found that high scores in the positive symptom distress index (PSDI) scale in the pre-test period was a biomarker for psychological disturbances in the middle and long-term.
The results also suggest that undergoing pre-symptomatic testing had no negative impact in people who didn’t present a psychological disturbance during the pre-test.
This study suggests that instruments like the brief symptom inventory to determine psychological distress and psychiatric disorders is key to detecting clinical scenarios that may develop years after a person has taken pre-symptomatic testing.
“Attention should be paid to providing psychological support to persons at-risk who, at the pre-test phase, present some psychopathology indices before pursuing with genetic testing,” the study concluded.
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