Human Genomics May Uncover Physiological Mechanisms of Disease

The study of human genomics is a specific area of research within genetics that relates to sequencing and analyzing a human's genome. Data is collected and shared through human genomic databases. A very exciting project, The Human Genome Project (HGP), was created in 1990 and it was a global scientific research venture that aimed to analyze the entire human genome. The project was publicly funded for 13 years and was very successful as researchers were able to sequence 3.2 billion base pairs in the human genome! Genomic projects and databases are extremely beneficial tools that allow more effective detection and treatment of many diseases including cancer. However, a significant issue in relation to genomic research and these crucial databases is the lack of genetic diversity present.

The large majority of human genomes sequenced have been from humans of European descent. The limited research and genomic information available for patients of other ethnicities is alarming and detrimental. The many genomic projects like the HGP described above are not fulfilling their purpose in providing a comprehensive resource for analysis of common human genetic variation. 

In a study cited below, the researchers discussed The 1000 Genome Project results as well as their implications. They particularly discussed the underrepresentation of certain populations including African Americans. This is especially alarming as the researchers explained how African ancestry populations have the greatest number of variant sites present in their genomes. There is also inadequate genomic understanding of the causes of many diseases in African Americans compared to the well-known genomic causes in cases of European descendants. 

The sequencing and analyses of human genomes from humans of diverse ethnicities is an ethical necessity moving forward in the field of genomics. This will result in more effective diagnostics and treatments for more people than ever before. More diversity in human genomic databases would also be especially significant in treating rare diseases that often rely on genomic analyses for early detection and treatment.

Human genomics research has the potential to uncover physiological mechanisms of disease as sequenced genomes may indicate patients' physiological diseases as well as their causes and possible treatments. Gene editing through CRISPR is also a powerful and controversial tool that may play a role in treatments or even cures of physiological diseases in the near future. 

Resources:

https://www.nature.com/articles/nature15393

https://blogs.scientificamerican.com/voices/we-need-more-diversity-in-our-genomic-databases/

https://www.nature.com/scitable/topicpage/dna-sequencing-technologies-key-to-the-human-828
http://pdflikeread.com/human-physiology-and-mechanisms-of-disease-arthur-c-guyton-first-online-free-books-arhive.pdf