Psychosocial Factors Involved in Genetic Testing for Rare Diseases: A Scoping Review.

Area of Science:

• Genetics and Genomics
• Medical Psychology
• Public Health

Background:

• Rare diseases are often genetic and involve a lengthy diagnostic process.
• Genetic testing (GT) offers a pathway to shorten the time to diagnosis.
• Understanding psychosocial factors is crucial for patient-centered care in rare diseases.

Purpose of the Study:

• To systematically review and synthesize evidence on psychosocial factors influencing genetic testing decisions for rare diseases.
• To inform the development of person-centered approaches to genetic testing and care for rare conditions.
• To identify promoters and barriers to genetic testing in the context of rare diseases.

Main Methods:

• Systematic literature search across six databases (September 2024).
• Independent dual review, data extraction, and thematic analysis of 32 included studies.
• Mapping findings to the Theory of Planned Behavior for intervention development, validated by a patient advocate.

Main Results:

• Key psychosocial factors influencing genetic testing decisions were identified.
• Promoters include understanding GT, ending the diagnostic odyssey, actionable results, family history, altruism, and reproductive choices.
• Barriers encompass logistical issues, psychological burden, perceived lack of benefit, and concerns about discrimination or social stigma.

Conclusions:

• Psychosocial factors in rare disease GT share similarities with those for common conditions.
• Identified factors provide targets for theory-informed interventions.
• Interventions should support informed, patient-centered genetic testing decisions aligned with individual values.