(Selected Tables and Figures referenced, but not present in this blog
can be found in their corresponding Science Version blogs)
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 achievements in history. It was 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 older WGS (Whole genome sequencing) method, replaced in 1999 by NGS (Next generation sequencing), it deciphered and mapped the genetic base chemical sequences of 92% of the entire human genetic code, i.e., the genome explained in the previous 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 or “gaps” and produced the first truly complete human genome sequence labeled GRCh38. Thanks to the HGP, NGS, and continuing advances in AI and “big data analytics,” the scientific community is now using the examination of chromosomes to identify structural abnormalities and 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 versus the multiple years and decades it took to develop a vaccine years ago. It will now also provide rapid identification of viral variants as they developed.
The combination of HGP and NGS technologies has changed the current face of immunology and health care with the capabilities of now locating and identifying mutations. This is dramatically expanding treatment options through immune drug therapies; gene engineering; also modifying procedures that edit and can replace mutations (like CAR-T and CRISPR-Cas9 procedures); and stem cell transplantation therapies. All these exciting treatment modalities are discussed in depth in Blogs #22 through 26. HGP has also led to a new mapping initiative of the immunome, remember, the immune system’s genome? Using a mouse model initially, the Immunological Genome Project (ImmGen) has begun the process of mapping gene expression and how it regulates the immune system.
Complementing the immunologic technology advances being witnessed through HGP, we are also witnessing the introduction of a new level of real personalized, “precision medicine” and preventive health care. This new level of health care will be able to identify and correct 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 cures and prevention of all 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 variability in a person’s genes, their environment, and lifestyle. It allows doctors and researchers to predict more accurately treatment and prevention strategies for a particular disease in specific patients and groups of patients. This will replace the “one-size-fits-all approach” to healthcare. Its goal is to find unique disease risks and treatments that work best for individual 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. It promotes the idea that everyone should have a DNA profile on file. A great idea!
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