Great expectations: patients' preferences for clinically significant results from genomic sequencing

Area of Science:

• Genomic Medicine
• Clinical Genetics
• Patient-Reported Outcomes

Background:

• Genomic sequencing (GS) generates secondary findings (SF) beyond the primary diagnostic purpose.
• Professional guidelines often recommend returning only medically actionable SF.
• Understanding patient preferences for SF is crucial for ethical and personalized genetic testing.

Purpose of the Study:

• To describe patient preferences for various categories of SF from GS.
• To identify factors influencing these preferences among adult cancer patients.
• To compare patient preferences with existing professional guidelines on SF return.

Main Methods:

• Assessed patient preferences for five SF categories using the Genomics ADvISER decision aid.
• Collected data from 133 adult cancer patients with diverse ancestries.
• Analyzed preferences using descriptive statistics and logistic regression for preference drivers.

Main Results:

• The majority of participants (97%) chose to receive medically actionable SF.
• Significant interest was shown in non-actionable SF: polygenic risks (74%), carrier status (75%), rare diseases (59%), and early-onset neurological diseases (53%).
• Older participants preferred early-onset neurological disease results; lower decisional conflict correlated with selecting all SF categories.

Conclusions:

• A notable gap exists between cancer patient preferences for SF and current professional guidelines.
• Patient preferences encompass a broader range of SF than typically recommended.
• Future guidelines for returning SF should integrate patient values and preferences alongside clinical evidence.