Personalized medicine最新文献

The application of artificial intelligence (AI) to healthcare has garnered significant enthusiasm in recent years. Despite the adoption of new analytic approaches, medical education on AI is lacking. We aim to create a usable AI primer for medical education. We discuss how to generate a clinical question involving AI, what data are suitable for AI research, how to prepare a dataset for training and how to determine if the output has clinical utility. To illustrate this process, we focused on an example of how medical imaging is employed in designing a machine learning model. Our proposed medical education curriculum addresses AI's potential and limitations for enhancing clinicians' skills in research, applied statistics and care delivery.

Aim: Our study aimed to screen the genotype frequencies of very important pharmacogenomic (VIP) mutations and identify their differences between Bai and other populations. Materials & methods: We selected 66 VIP variants from PharmGKB (www.pharmgkb.org/) for genotyping. χ2 test was used to identify differences in loci between these populations and FST values of Bai and the other 26 populations were analyzed. Results: Our study showed that the frequencies of SNPs of CYP3A5, ACE, PTGS2 and NAT2 differed significantly from those of the other 26 populations. At the same time, we found that some VIP variants may affect the metabolism of drugs and the genetic relationship between the Bai population and East Asian populations was found to be the closest. Conclusion: By comparing the genotype frequencies of different populations, the loci with significant differences were identified and discussed, providing a theoretical basis for individualized drug use in the Bai ethnic population.

Aim: Prevalence of clinically actionable genetic variants of CYP2C19 is lacking in specific population subgroups. This study aims to assess the frequencies of CYP2C19*2, *3, and *17 in Asian, Native Hawaiian and Pacific Islander (NHPI) population subgroups compared with Europeans. Patients & methods: The study included repository DNA samples of 1064 women, 18 years or older, who self-reported as Filipino, Korean, Japanese, Native Hawaiian, Marshallese and Samoan. Results: The overall frequencies of CYP2C19*2 (25-36%) and CYP2C19*3 (2.5-10%) were significantly higher in all our subgroups than in Europeans (15 and 0.02%, respectively). The overall frequency of CYP2C19*17 was significantly lower in all our subgroups (1-6%) than in Europeans (21.7%). Conclusion: This is the first report on the frequencies of CYP2C19*2, *3, and *17 in women of Asian and NHPI descent with distinct population subgroup differences. Differential allele frequencies of CYP2C19 among population subgroups underscore the importance of increasing racial and ethnic diversity in pharmacogenetic research.

Aim: Commercial plan coverage policies for multigene panel tests may vary and could result in geographic variation in coverage due to the fragmented nature of the commercial insurance market. This study aimed to characterize the alignment of multigene panel tests coverage policies to that of clinical guidelines, overall and by state. Materials & methods: We reviewed NCCN Guidelines^® for four tumors. Public coverage policies were identified via web search. Payer policies included those with the largest or second largest number of commercial lives in each state. Policies were classified as 'more restrictive' or 'consistent' with the guidelines. Results: Of 38 plans/policies reviewed, 71% were classified as 'more restrictive' than the guidelines, with variation in the number of commercial lives by state. Among these, 52% restricted on panel size and 63% restricted in all or select tumors. Conclusion: Most coverage policies were more restrictive. Clinical guideline clarity and state policies may improve alignment to guidelines and geographic variations.

Aim: The authors aimed to investigate whether polymorphisms of PON-1 were associated with the susceptibility to and severity of ischemic stroke (IS). Methods: In this study, 302 IS patients and 303 healthy controls were enrolled. Polymorphisms rs854560 and rs854572 of PON-1 were detected using SNaPshot single-nucleotide polymorphism typing technology. Results: The rs854572 polymorphism of the PON-1 gene showed a significant correlation with IS, and its GG genotype reduced the risk of IS (recessive model, p = 0.001). The GG genotype was also associated with mild stroke (p = 0.032). No association was observed between rs854560 and IS. Conclusion:PON-1 rs854572 polymorphism was related to the risk of IS and could be a biomarker to access the severity of IS.