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Last Posted: Sep 26, 2022
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Diverse Parental Perspectives of the Social and Educational Needs for Expanding Newborn Screening through Genomic Sequencing
GT Timmins et al, Public Health Genomics, September 2022

We conducted a semi-structured interview study with English and Spanish speaking mothers who had given birth within the USA in the past 5 years. The interviews explored opinions of expanding NBS, ethical and privacy concerns, and educational and social needs. All participants were interested in some degree of NBS expansion. However, there were differing opinions about the characteristics of conditions that should be included with less consensus for conditions with low penetrance, those without approved treatment, or onset outside of early childhood.

Communicating Precision Medicine Research: Multidisciplinary Teams and Diverse Communities.
Beans Julie A et al. Public health genomics 2022 8 1-9

A shared definition of precision medicine research as well as six case examples of precision medicine research involving genetic risk, pharmacogenetics, epigenetics, the microbiome, mobile health, and electronic health records were developed. Discussion/Conclusion: The precision medicine research definition and case examples can be used as planning tools to establish a shared understanding of the scope of precision medicine research across multidisciplinary teams and with the diverse communities.

Evaluating the Effectiveness of a Telehealth Cancer Genetics Program: A BRCA Pilot Study.
Rose Esther et al. Public health genomics 2022 8 1-14

Ashkenazi Jewish (AJ) individuals face a 1 in 40 (2.5%) risk of having a BRCA mutation, which is 10 times the general population risk. JScreen launched the PEACH BRCA Study, a telehealth-based platform for BRCA education and testing, with the goal of creating an effective model for BRCA testing in low-risk AJ individuals who do not meet national testing criteria. This study established interest in broader cancer genetic testing through a telehealth platform and suggested that testing may be successful in the Jewish community at a national level and potentially in other populations, provided that patient education and genetic counseling are adequately incorporated.

Using a Participatory Approach to Develop Research Priorities for Future Leaders in Cancer-Related Precision Public Health
MC Roberts et al, Frontiers in Genetics, May 2022

We held an interactive workshop during a virtual conference bringing together early-career researchers across public health disciplines to identify research priorities in precision public health. The workshop participants discussed and voted to identify three priority areas for future research and capacity building including 1) enhancing equity and access to precision public health research and resources, 2) improving tools and metrics for evaluation and 3) applying principles of implementation science to support sustainable practices.

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Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.

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