A single gene disorder is the result of a single mutated gene. There are estimated to be over 4,000 human diseases caused by single gene defects. However, a new strategic plan being developed has a goal that in the next decade, scientists will be able to identify genetic bases of most single-gene disorders and gain new insights into multi-gene disorders, leading to better treatments and more accurate assessments.
The first genome sequence was analyzed 10 years ago. Molecular pathways that are implicated in single-gene disorders may hold important clues for the diagnosis and treatment of common disease.
Full genome sequencing (FGS), also known as whole genome sequencing, complete genome sequencing, or entire genome sequencing, is a laboratory process that determines the complete DNA sequence of an organism’s genome at a single time. This entails sequencing all of an organism’s chromosomal DNA as well as DNA contained in the mitochondria and for plants the chloroplast as well. Almost any biological sample, even a very small amount of DNA or ancient DNA, can provide the genetic material necessary for full genome sequencing.
Eric Green, M.D., Ph.D., National Human Genome Research Institute Director states:
“Researchers around the world are working towards a future when health care providers will use information about our individual genomes to better diagnose and treat disease. While significant challenges remain to our understanding of how the genome operates in health and disease, there are enough examples to say with confidence that genomics research will lead to important advances in medicine.”
DNA sequencing technologies, however, are just one of the tools needed to answer the research questions that will advance human health. Technological improvements in many other areas will be critical to successfully integrate genomic knowledge into clinical care.
Mark Guyer, Ph.D., director of the NHGRI Division of Extramural Research continues:
“It took all the sequencing capacity in the world about 13 years to produce the first human genome sequence. In 2003, around the time we completed the Human Genome Project, technology had improved to the point where 100 machines could sequence a human-sized genome in about three months. In 2011, one machine can produce a human-sized sequence in about five days.”
The plan also calls for new technologies to measure the interaction between the environment, behavior and genes and for routine clinical applications of genomic tools such as newborn genetic screening and other types of diagnostic screening. It also calls for electronic medical records systems that integrate family histories and genomic data to generate personalized diagnoses, treatments, and prevention plans.
Dr. Green adds:
“Our base-pairs-to-bedside plan maps the next steps in the herculean endeavor not only to discover medical secrets hidden within the human genomes, but to bring those discoveries to the practitioner and patient. All of us in this field share a sense of urgency about using genomics for clinical applications. The challenges are enormous, but we believe that, working together, the goal of improving human health is within reach.”
The intention is that genomic medicine will only reach its full potential when its benefits become accessible to all, including at-risk and low-income individuals around the world. Towards this end, the plan notes the need for greater reliance on non-geneticist health care providers and a consideration of the larger societal implications of increasing genomic knowledge.
Source:
Written by Sy Kraft, B.A.