Clinseq: Genome profiling for a better personalize health treatment. (Non-scientific)

By Edgardo Lopez

Imagine a clinical program that will help you to prevent, diagnose and treat a disease like cancer o a cardiovascular disease by using your DNA information? A group of scientist led by Dr. Leslie G. Biesecker develop a project were the genome takes a big role in the discoveries of treatments for different diseases. One of Clinseq project main goal is to use whole genome sequencing to have a better DNA profile of each patient compare to there family and other patient with heart disease, breast cancer, and hearing loss. This study also want to explain how genetic variation affect our health, present the genetic results to the people and also create better ways to store genetic data and analyze the complexity no matter what. In this study they work with a cohort of people with a background in Atherosclerosis heart disease.

¿What is Atherosclerosis heart disease?

This a disease in witch your plaque block your arteries causing major problems like heart attacks, strokes or even death.

By elucidation the human genome we have discover new advances in DNA sequencing technologies and new ways to interpret the genetic architecture of the DNA related to some diseases. Using the whole genome is a better approach to understand the variability and complexity of the genome and by taking multiple gene analysis we can get a better point of view of what is expressing in our cells and what not. The design of this study is base on an analysis of 1000 individuals in the National Institutes of Health. Taking DNA samples for sequencing is one of the most important steps in this project since there are issues in the effectivity of the data obtained by sequencing. Each individual will get a multiple analysis of variant that will collaborate with the clinical sector for a genetic and medical counseling.  Clinseq is one of the most important approach for medical science that use whole-genome analyses and a clinical approach. For each patient there is a enrollment process to participate of this program. Each patient need to provide a clinical background of the atherosclerotic hears disease in their family and also in them. DNA samples are taken for clinical evaluation and for research. The research samples pass throw a bioinformatics analysis and then is validate with the clinical data to learn and discover the relevant information that can lead to a better treatment for the patient.

In this video you can take a more personal view of the project and their patients.

Reference:

Biesecker et. al. 2009. The ClinSeq Project: Piloting large-scale genome sequencing for research in genomic medicine. 19:1665–1674; ISSN 1088-9051/09; www.genome.org

What is Atherosclerosis? NIH National Heart, Lungs and Blood Institute http://www.nhlbi.nih.gov/health/health-topics/topics/atherosclerosis