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.