Improving access to exome sequencing in a medically underserved population through the Texome Project.

PURPOSE: Genomic medicine can end diagnostic odysseys for patients with complex phenotypes; however, limitations in insurance coverage and other systemic barriers preclude individuals from accessing comprehensive genetics evaluation and testing. METHODS: The Texome Project is a 4-year study that reduces barriers to genomic testing for individuals from underserved and underrepresented populations. Participants with undiagnosed, rare diseases who have financial barriers to obtaining exome sequencing (ES) clinically are enrolled in the Texome Project. RESULTS: We highlight the Texome Project process and describe the outcomes of the first 60 ES results for study participants. Participants received a genetic evaluation, ES, and return of results at no cost. We summarize the psychosocial or medical implications of these genetic diagnoses. Thus far, ES provided molecular diagnoses for 18 out of 60 (30%) of Texome participants. Plus, in 11 out of 60 (18%) participants, a partial or probable diagnosis was identified. Overall, 5 participants had a change in medical management. CONCLUSION: To date, the Texome Project has recruited a racially, ethnically, and socioeconomically diverse cohort. The diagnostic rate and medical impact in this cohort support the need for expanded access to genetic testing and services. The Texome Project will continue reducing barriers to genomic care throughout the future study years.

Perceptions of motivational interviewing in genetic counseling practice and training.

Motivational interviewing (MI) is a counseling approach that allows a provider to engage in a dialog with patients to evoke motivation for health behavior change or decision-making. MI is a relatively recent addition to the curricula of genetic counseling programs, and recent research has demonstrated its utility in genetic counseling practice. However, the perspectives of genetic counselors trained in MI have yet to be studied with the intent of illuminating how it is applied in practice or what should be emphasized in training. This qualitative study interviewed fifteen genetic counselors from various practice areas who have had training in MI. The interviews focused on how MI is being used in practice, and the strengths and weaknesses of their MI training. Five themes were identified through inductive qualitative analysis: (a) utility of MI in genetic counseling practice, (b) value of MI in genetic counseling training, (c) barriers to implementing MI in genetic counseling practice, (d) barriers to training genetic counselors in MI, and (e) timing of MI training. The perspectives discovered from this study can help inform genetic counseling educators who wish to include MI in their curriculum. In addition for those programs that already include MI, these results serve as a guide for the development of training role-plays and/or standardized patient encounter scenarios.