Publications

As genetics and genomics become part of mainstream Medicine, these advances have the potential to reduce or exacerbate health disparities. Gaps in effective communication (where all parties share the same meaning) are widely recognized as a major contributor to health disparities. The purpose of this study was to examine GC-patient communication in real time, to assess its effectiveness from the patient perspective, and then to pilot intervention strategies to improve the communication. We observed 64 English-, 35 Spanish- and 25 Chinese-speaking (n = 124) public hospital patients and 10 GCs in 170 GC appointments, and interviewed 49 patients who were offered testing using the audio recordings to stimulate recall and probe specific aspects of the communication. Data analyses were conducted using grounded theory methods and revealed a fundamental mismatch between the information provided by GCs and the information desired and meaningful to patients. Several components of the communication that contributed to this mismatch and often resulted in ineffective communication included: (1) too much information; (2) complex terminology and conceptually difficult presentation of information; (3) information perceived as not relevant by the patient; (4) unintentional inhibition of patient engagement and question-asking; (5) vague discussions of screening and prevention recommendations. Our findings indicate a need to transform the standard model of genetic counseling communication using evidence-based principles and strategies from other fields of Medicine. The high rates of limited health literacy in the US, increasing access of diverse populations to genetic services, and growing complexity of genetic information have created a perfect storm. If not directly addressed, this convergence is likely to exacerbate health disparities in the genomic age.

Increased activity has been shown to be preserved in spatially distinct metastatic tumors from the same patient suggesting the requirement for lineage-specific dependencies for metastatic castration resistant prostate cancer (mCRPC). Amplification of the gene is a common mechanism by which mCRPC increase activity. To determine whether amplification in circulating tumor cells (CTC) could complement metastatic tissue biopsies in men undergoing treatment for mCRPC, we developed a novel two-step assay to isolate CTCs and subsequently analyzed amplification status in CTCs and matched biopsy tissue from the same patient by fluorescence hybridization (FISH). gene status in CTCs showed strong concordance with gene status in matched tissue samples in 24 of 25 patients (Correlation: 96%; Kappa: 0.83; Sensitivity: 100%, Specificity: 83%). Our work demonstrates that amplification is conserved between CTCs and biopsies and that CTCs can serve as non-invasive surrogate to document amplification in mCRPC.