Redefinition: coping with normal results from predictive gene testing for neurodegenerative disorders

Area of Science:

• Psychology
• Genetics
• Medical Sociology

Background:

• Predictive genetic testing for inherited neurodegenerative diseases offers insights into an individual's risk.
• Understanding the psychosocial impact of normal (negative) genetic test results is crucial for supporting individuals and families.

Purpose of the Study:

• To describe the psychosocial impact of normal predictive genetic testing results.
• To explore the coping processes individuals utilize after receiving negative results for inherited neurodegenerative diseases.

Main Methods:

• Qualitative study employing semi-structured interviews.
• Participants included ten adults who received normal results for Huntington disease (HD) or Pallido-Ponto-Nigral Degeneration (PPND) gene mutations.
• Interviews were conducted 1 month and 6 months post-result disclosure.

Main Results:

• A major theme of 'Redefinition' emerged, describing shifts in self-perception, family relationships, and societal roles.
• Individuals experienced a loss of previous self-beliefs and developed new identities.
• The coping process transitioned from a personal focus at 1 month to a broader future perspective by 6 months.

Conclusions:

• Normal genetic test results necessitate a significant psychosocial adjustment and redefinition process.
• Interventions aimed at supporting coping with negative genetic results should consider the evolving nature of this redefinition.
• Recognizing the components of the redefinition process is vital for developing effective support strategies for individuals in at-risk families.