AHIC Review Course 4: Precision Medicine and its Relationship with Informatics

Flashcards cover precision medicine concepts, omics disciplines, pharmacogenomics, EHR integration challenges, and large-scale data repositories (All of Us and MVP) as discussed in the lecture.

What is the goal of precision medicine?

To use all scientific discoveries plus individual environmental and lifestyle data to select the best treatment for each patient.

Name the main omics disciplines mentioned and their focus.

Genomics (genome and gene interactions); Transcriptomics (RNA produced by genes and regulation of expression); Proteomics (networks of proteins and their interactions); Metabolomics (metabolites and chemical processes); Epigenomics (environmental impact on gene expression); Metagenomics (environmental influence on genetic expression).

What does genomics study?

The genome and the interactions among genes across the entire genome.

What is transcriptomics?

The RNA produced by genes and the mechanisms that regulate gene expression and transcription.

What is proteomics?

The study of large networks of proteins coded by genes and how they work together to produce phenotypes.

What is metabolomics?

The study of chemical processes controlled by proteins that influence production and consumption of metabolites.

What is epigenomics?

Understanding how environment affects how our genetic material is expressed.

What is metagenomics?

Understanding how our environment impacts the expression of our genetic material.

What is pharmacogenomics?

The use of genetic information to direct clinical decisions about drug therapy and treatment choices.

Which gene accounts for about 20% of the variation in warfarin metabolism?

VKORC1.

Where is genomics data often stored for precision medicine use?

In biobanks external to the electronic health record (EHR).

What is the ‘moving target’ problem in genomics data?

New variants are continually discovered and interpretations of existing variants can change over time as new knowledge emerges.

How have modern EHRs improved genetics data handling?

Improved capture/display of genetic pedigree; patient portals allow patient contribution to pedigrees; genetic test results are stored in structured/semi-structured formats; computerized clinical decision support (alerts, order sets) for certain genes.

What is the difference between genetics results and traditional laboratory results in the EHR?

Genetic results can change over time with new knowledge and may lack stable reference ranges; traditional lab results usually have stable reference ranges and well-defined interpretation.

What role do advanced analytics play in precision medicine informatics?

Data scientists process large genomics datasets and help power decision support; enable scalable analytics using cloud computing and predictive analytics to improve EHR usability.

What is a standalone omics research repository and why is it used?

A centralized repository hosting all omics data for research subjects to bypass the need for full data interoperability and harmonization across sources.

What are the All of Us and MVP programs?

All of Us is an NIH program aiming to collect omics data for 1 million volunteers and provide deidentified data for research; MVP (Million Veteran Program) collects genetic, health, lifestyle, and military background data from Veterans and had about 825,000 volunteers by 2019.

What is the All of Us program's aim regarding data collection?

To collect and host all forms of omics data (genetic, surveys, wearables, EHRs, etc.) for 1 million volunteers in a deidentified form for research.

When did the Human Genome Project start and end, and what did it achieve?

Started in 1990 and completed in 2003; produced the complete sequence of the human genome with about 3 billion base pairs.

Approximately how many base pairs are in the human genome?

About 3 billion base pairs.