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Disseminating the results of transdisciplinary health disparities research will increasingly involve discussing family health history and/or genetic information with study participants and their communities. Often, individuals' familiarity and comfort with these topics will be unclear. To inform the dissemination activities of a Center for Population Health and Health Disparities (CPHHD) studying multilevel determinants of breast cancer disparities in Latinas, we talked with Spanish-speaking Mexican-Americans from a rural agricultural community about family health history, genetics, and disease risk. We found that participants had limited genetic literacy but were familiar with some concepts related to family health history. Participants emphasized the role of individual behavior in shaping health and expressed a strong desire for health-related information. This included genetic information about future disease risk, which participants were previously unaware of but thought could be useful for disease prevention. These findings suggest that for research dissemination to facilitate health promotion, gaps in knowledge, particularly genetic knowledge, will need to be overcome. Outreach to underserved Latino communities should take advantage of this existing knowledge of family health history and strong desire for health information, but also take care to not overstate the significance of unreplicated or low-penetrance genetic associations.

PurposeThe broad use of SNP microarrays has increased identification of unexpected consanguinity. Therefore, guidelines to address reporting of consanguinity have been published for clinical laboratories. Because no such guidelines exist for clinicians, we describe a case and present recommendations for clinicians to disclose unexpected consanguinity to families.MethodsIn a boy with multiple endocrine abnormalities and structural birth defects, SNP array analysis revealed ~23% autosomal homozygosity suggestive of a 1st-degree parental relationship. We assembled an interdisciplinary healthcare team, planned the most appropriate way to discuss results of the SNP array with the adult mother including the possibility of multiple autosomal recessive disorders in her child, and finally met with her as a team.ResultsFrom these discussions, we developed four major considerations for clinicians returning results of unexpected consanguinity, all guided by the child’s best interests: 1) ethical and legal obligations for reporting possible abuse, 2) preservation of the clinical relationship, 3) attention to justice and psychosocial challenges, and 4) utilization of the SNP array results to guide further testing.ConclusionAs SNP arrays become a common clinical diagnostic tool, clinicians can use this framework to return results of unexpected consanguinity to families in a supportive and productive manner.

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