Precision medicine, which aims to tailor medical treatments to individuals based on their genetic variability, environment, and lifestyle, can lead to more accurate diagnoses, targeted therapies, and improved patient outcomes. This chapter explores the role of genetic variations in diseases and in treatments. It outlines a clinical genomics workflow, from sequencing patient samples to reporting findings to clinicians, and introduces key technologies such as sequencing, artificial intelligence, and wearable devices. Advances in genomic technologies, coupled with large-scale datasets, have enabled sophisticated computational tools for analyzing complex genomic data. However, certain challenges, such as the “N-of-1 problem”, where clinical decisions must be made for individual patients without the benefit of large sample sizes, and disparities in genetic diversity genomics studies require careful considerations. Overall, precision medicine holds transformative potential in healthcare, relying on interdisciplinary collaboration, continuous evaluation to optimize patient outcomes, and inclusivity, necessitating engagement with diverse communities to ensure equitable healthcare access for all.

错误:搜索内容不能为空,请输入英文关键词
错误:关键词超出字数限制,请精简
高级检索

Precision Medicine

  • Eugenia G. Giannopoulou,
  • Andrea Sboner

摘要

Precision medicine, which aims to tailor medical treatments to individuals based on their genetic variability, environment, and lifestyle, can lead to more accurate diagnoses, targeted therapies, and improved patient outcomes. This chapter explores the role of genetic variations in diseases and in treatments. It outlines a clinical genomics workflow, from sequencing patient samples to reporting findings to clinicians, and introduces key technologies such as sequencing, artificial intelligence, and wearable devices. Advances in genomic technologies, coupled with large-scale datasets, have enabled sophisticated computational tools for analyzing complex genomic data. However, certain challenges, such as the “N-of-1 problem”, where clinical decisions must be made for individual patients without the benefit of large sample sizes, and disparities in genetic diversity genomics studies require careful considerations. Overall, precision medicine holds transformative potential in healthcare, relying on interdisciplinary collaboration, continuous evaluation to optimize patient outcomes, and inclusivity, necessitating engagement with diverse communities to ensure equitable healthcare access for all.