Background Population-based genomic screening has the predicted ability to reduce morbidity and mortality associated with medically actionable conditions. However, much research is needed to develop standards for genomic screening and to understand the perspectives of people offered this new testing modality. This is particularly true for non-European ancestry populations who are vastly underrepresented in genomic medicine research. Therefore, we implemented a pilot genomic screening program in the BioMe Biobank in New York City, where the majority of participants are of non-European ancestry. Methods We initiated genomic screening for well-established genes associated with hereditary breast and ovarian cancer syndrome (HBOC), Lynch syndrome (LS), and familial hypercholesterolemia (FH). We evaluated and included an additional gene (TTR) associated with hereditary transthyretin amyloidosis (hATTR), which has a common founder variant in African ancestry populations. We evaluated the characteristics of 74 participants who received results associated with these conditions. We also assessed the preferences of 7461 newly enrolled BioMe participants to receive genomic results. Results In the pilot genomic screening program, 74 consented participants received results related to HBOC (N = 26), LS (N = 6), FH (N = 8), and hATTR (N = 34). Thirty-three of 34 (97.1%) participants who received a result related to hATTR were self-reported African American/African (AA) or Hispanic/Latinx (HL), compared to 14 of 40 (35.0%) participants who received a result related to HBOC, LS, or FH. Among the 7461 participants enrolled after the BioMe protocol modification to allow the return of genomic results, 93.4% indicated that they would want to receive results. Younger participants, women, and HL participants were more likely to opt to receive results. Conclusions The addition of TTR to a pilot genomic screening program meant that we returned results to a higher proportion of AA and HL participants, in comparison with genes traditionally included in genomic screening programs in the USA. We found that the majority of participants in a multi-ethnic biobank are interested in receiving genomic results for medically actionable conditions. These findings increase knowledge about the perspectives of diverse research participants on receiving genomic results and inform the broader implementation of genomic medicine in underrepresented patient populations.

Purpose Although sleep disturbances are common in older adults, studies evaluating the prevalence of sleep disturbance and influence on functional outcomes in older adults with cancer are few. In this study, we examined the prevalence of sleep disturbance and its association with physical function and cognition in older adults with cancer. Methods Patients referred to the Specialized Oncology Care & Research in the Elderly clinics at the Universities of Rochester and Chicago from May 2011 to October 2015 who underwent a geriatric assessment (GA) and completed the sleep assessment were included. Presence of sleep disturbance was self-reported (yes/no). Physical function was assessed using Instrumental Activities of Daily Living (IADLs), physical activity (PA) survey, falls in the preceding six months, and Short Physical Performance Battery (SPPB). Bivariate and multivariable analyses were used to examine the associations between sleep disturbance with functional outcomes and cognition. Results We included 389 older patients. The prevalence of sleep disturbance was 40%. Sixty eight percent had ≥1 IADL impairment, 76% had PA limitation, 37% had ≥1 fall, 70% had impairment on SPPB, and 47% screened positive for cognitive impairment. On bivariate analyses, sleep disturbance was associated with IADL impairment (Odds ratio [OR] 1.96, 95% Confidence Interval [CI] 1.23-3.13, P=0.005) and PA limitation (OR 2.43, 95% CI 1.38-4.28, P=0.002). The associations remained significant on multivariable analyses. Sleep disturbance was not significantly associated with falls, impairment on SPPB and performance on the cognitive screen. Conclusion Sleep disturbance was associated with IADL impairment and PA limitation. It is important for oncologists to inquire about sleep problems, and these patients should also be screened for functional impairment if sleep disturbance was present.

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