A monumental task was taken up by the scientific community in 1990. To complete the sequence of the human genome.
The target was achieved in 2003 and cost approximately $2.7 billion.
92% of the sequence was completed (3 billion DNA base pairs), and this marked a new era of genomics. It’s been more than 2 decades since, and the aftereffects of HGP are still creating waves in the healthcare industry.
Advancements in the field of artificial intelligence (AI), such as virtual assistants for medical practice, have reshaped how we evaluate and treat diseases. Let’s dissect how HGP transformed the modern sciences.
Human Genome Project (HGP): An Overview
The project was led by the U.S National Institutes of Health (NIH) and the Department of Energy.
It was an international research effort with contributions from scientists all across the globe, especially from researchers from the UK, France, Germany, Japan, and China.
Target: Map & understand all the genes in the human genome.
Outcome: To get insights into disease mechanisms, evolutionary history, and human biology. It led to a string of innovations in DNA sequencing technologies.
Example: Advancements in next-generation sequencing (NGS) lowered the cost of gene sequencing.
The Impact Of The HGP On Modern Medicine
The fields of genetics and oncology saw an exponential shift in dealing with rare diseases, all thanks to HGP. The key areas where the impact was observed are:
Personalized Medicine
Understanding the individual’s genetic makeup helped pave the way for the development of precision medicine.
The mutations of BRCA1 and BRCA2 can now be identified by genetic testing, which is typically associated with breast and ovarian cancer. A significant advantage of that was early intervention by medical professionals in the first or second stages of the medical condition.
Drug Discovery
There are specific genetic targets for new therapies that are now easily identified because of advancements in Genomics, which was possible because of HGP.
For example, a drug for chronic myeloid leukemia called Imatinib (Gleevec) was made after studying the genetic mutations that led to the disease in the first place.
Rare Diseases
As per NIH, many of the rare diseases (over 6000) that are linked to genetic mutations are diagnosed because of a deep understanding of genomic sequencing.
Virtual Assistants: A Boon To Modern Healthcare
The blueprint of human biology provided by HGP has immense genomic data to interpret. It called for the development of new tools for detailed analysis.
The emergence of artificial intelligence (AI) solved the dilemma and has been a milestone for modern healthcare. Its application in making sense of complex genomic data and then applying it to patient care has been a game changer.
The most exciting development to come out of it: Virtual assistants for medical practice.
The role in automating mundane and repetitive administrative tasks such as scheduling appointments and reminders has freed the time for healthcare professionals to focus on:
- Managing Patient Data
- Interpreting Genetic Information
- Delivering Personalized Care
These virtual assistants powered by AI can analyze and cross-reference the genetic profile of the patient with the databases available to recommend personalized treatment plans.
The critical genetic information is easily accessible to clinicians as they assist in managing EHRs (electronic health records). When it comes to oncology, a virtual assistant can interpret genomic data from tumor biopsies for efficient and effective targeted therapies.
| Result: Reduction in timeReduction in costImproves patient outcomesMore success in trial-and-error treatment approaches |
A Look Forward: Future Of AI & Genomics
HGP has already set up a strong base for the future of Genetics. Integrating it with artificial intelligence counts as an exciting trends to watch for:
01. Population Genomics
Many programs like UK Biobank and All of Us research programs are part of large-scale genomic studies with the objective of collecting genetic data from millions of individuals. AI makes its contribution by the vast amount of data to provide preventive measures.
02. CRISPR & Gene Editing
In 2020, the Noble Prize was awarded to Jennifer A. Douda and Emmanuelle Charpentier in chemistry for their discovery of CRISPR-Cas9.
The discovery led to new doors in treating genetic disorders, as AI optimizes these technologies by minimizing the off-target effects of predicting the outcomes of gene edits.
03. Telemedicine & Virtual Care
The pandemic was a push in the adoption of telemedicine platforms for proactive care. The virtual assistant for medical practice has accelerated the patient caring process by saving a lot of time.
Overcoming Challenges & Ethical Dilemmas
Conclusion
The ripple effect of HGP has been seen in the medical field for over 20 years. The genetic revolution, with AI at its center, has helped in unlocking the secrets of the human genome.
The Human Genome Project has not just mapped out the DNA but has paved the way for the future of medicine.
Luke 
Rawat