This blog discussion includes a dynamic combination of genetics, immunology, epidemiology, and public health, the foundational elements of the Human Genome Project (HGP), one of the greatest scientific feats in history, launched in October 1990 and completed in April 2003. The National Human Genome Research Institute (NHGRI) of NIH, analyzed random DNA samples taken from 11 donors. Using the Sanger WGS (Whole genome sequencing) method (replaced in 1999 by NGS (Next generation sequencing), it deciphered and mapped the nucleic acid sequences of 92% of the entire human genetic code (i.e., the genome as explained in Blog #10). Subsequently, by March 2022 a group of research scientists, the Telomere-to-Telomere (T2T-CHM13) consortium, completed mapping the remaining 150,000 areas (“gaps”) and produced the first truly complete human genome sequence (GRCh38). Thanks to the HGP, NGS, and continuing advances in AI and “big data analytics,” the scientific community is now using cytogenetics (examination of chromosomes to identify structural abnormalities) to locate and identify genetic mutations in timeframes of minutes, hours, and days, versus the original “non-AI processes” of weeks, months, even years, if at all. This capability allowed researchers to develop a COVID-19 vaccine in less than a year (vs. the multiple years and decades needed in the past) and then, as well to rapidly identify viral variants as they developed.
The combination of HGP and NGS technologies has changed the current face of immunology and health care with the development of diagnostic capabilities (locating and identifying mutations) that are dramatically expanding treatment options through immunopharmaceutical therapies; gene engineering and modifying procedures that edit and replace mutations (e.g., CAR-T and CRISPR-Cas9 procedures); and stem cell transplantation therapies (all to be discussed in depth in Blogs #22 through 26). HGP has also led to a new mapping initiative of the immune system’s genome, the immunome. Using a mouse model initially, the Immunological Genome Project (ImmGen) has begun the process of mapping gene expression and its regulation in the immune system.
Complementing the immunologic technology advances being witnessed through HGP, it has also allowed for the introduction of a new level of real personalized, “precision medicine” and preventive health care. It will enable the correction of gene abnormalities in many instances before they produce negative effects. The concept of precision medicine (aka personalized medicine) has become a significant part of human genetics. It is indirectly related to immunology through its enormous potential value in health care. The concept provides profound applications and impact on the future of care including the diagnosis, treatment, and potential cure and prevention of all immunological diseases.
Precision medicine is a concept that uses genetics as its foundation. According to the CDC’s (Center for Disease Control) “Precision Medicine Initiative,” this relatively new term takes into account individual variability in genes, environment, and lifestyle for each person. It allows doctors and researchers to predict more accurately which treatment and prevention strategies for a particular disease work, developing in which groups of people versus the “one-size-fits-all approach.” Its goal is to find unique disease risks and treatments that work best for patients. It includes the use of family history, screening for diseases before you get sick; tailoring preventive strategies for patients and populations; tailoring specific treatment modalities for individuals based on their genetic code; and considering a patient’s overall DNA profile to structure a personalized health care plan with an overall goal of health prevention rather the traditional disease model.
As part of Precision Medicine, an initiative by the National Institute of Health (NIH) entitled “All of Us” will be tracking the history, physical findings, genetics, behavioral, and environmental factors of one million Americans for several years. They will be assessing health factors; developing healthcare solutions that make the best decisions to prevent or treat disease; predict epidemics; and improve the quality of life. This ambitious concept combines medicine, biology, genetics, statistics, immunology, and AI computing to create large-scale biobanks of complete genome-sequenced and phenotype information from hundreds of thousands of people.
Discussion Questions:
Within the human genome lies the “immunome” (the total genes and proteins that make up the immune system) now being mapped (ImmGen). What additional genetic information will the mapping of the immunome provide?
What are some examples of the types of health care precision medicine will be able to provide?
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