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Last Posted: Nov 29, 2022
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Will Organoids Fill the Gap towards Functional Precision Medicine?
F Papacio et al, J Per Med, November 21, 2022

Precision medicine approaches for solid tumors are mainly based on genomics. Its employment in clinical trials has led to somewhat underwhelming results, except for single responses. Several factors can influence the response, such as gene and protein expression, the coexistence of different genomic alterations or post-transcriptional/translational modifications, the impact of tumor microenvironment. Recently, the introduction of patient-derived organoids (PDOs) (stable primary cultures derived directly from the patient) showed the possibility of using them to predict in vitro the response that should be observed in the patient. This could represent a way to test the effectiveness of a precision medicine approach before administering it to the patient, maximizing clinical benefit.

Workforce Considerations When Building a Precision Medicine Program
CLB Zawatsky et al, J Per Med, November 20, 2022

This paper describes one healthcare system’s approach to strategically deploying genetic specialists and pharmacists to support the implementation of a precision medicine program. We report the necessary staffing including the genetic counselors, genetic counseling assistants, pharmacists, and geneticists. We examined the administrative and electronic medical records data to summarize genetic referrals over time as well as the uptake and results of an enterprise-wide genetic screening test. Between 2013 and 2020, the number of genetic specialists increased by 190%, from 10.1 full-time equivalents (FTEs) to 29.3 FTEs.

Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline
M Beaman et al, J Per Med, November 18, 2022

We report the outcomes of a pilot study wherein eight critically ill neonates received rapid whole genome sequencing with parental samples in an effort to establish a prompt diagnosis. Our pilot study resulted in a 37.5% diagnostic rate by whole genome sequencing alone and an overall 50% diagnostic rate for the cohort. We describe how the diagnoses led to identification of additional affected relatives and a change in management, the limitations of rapid genome sequencing, and some of the challenges with sample collection.

Aiming for equitable precision medicine in diabetes.
et al. Nature medicine 2022 11 (11) 2223

New initiatives aimed at reducing the burden of diabetes are laudable, but they will have to account for the disease’s complexity and heterogeneity to be truly effective and equitable at a global scale. A growing body of evidence supports the idea that variation exists not only in disease presentation and progression but also in individual responses to therapy, which suggests that a ‘one-size-fits-all’ approach to meeting the global coverage targets will be insufficient.

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.