Physicians can now offer molecular testing that uncovers an unprecedented view of the human genome in a cost affordable manner. Sequencing can refer to deep sequencing a gene or a panel of genes, the protein coding portion of the genome known as the Exome or sequencing the Full Genome. Matching the correct molecular diagnostic test to the patient at hand is what Genection wants to achieve with patients and their physicians.
Much of the genome remains clouded with respect to disease. However, large projects like The Encyclopedia of DNA Elements (ENCODE) have provided new insights into the regulation of the genome thus providing the groundwork for ultimately assigning every genomic variant to its possible impact of human diseases such as cancer, heart disease, and Alzheimer's. Genection hopes to speed up the process by which new medical knowledge is disseminated into clinical practice.
Cancer diagnosis and treatment
In the past, physicians would often look at a few candidate genes to see if it was a cancer driver. However, now physicians can look at an entire genome in an unbiased way. With this information they could treat patients in a targeted manner whereby patients may experience less side effects and better efficacy then traditional diagnostic conventional patterns of treatment.
Rare or Unknown Diseases
Physicians have often been limited in the ability to drill down to the root causes of disease due to the limitations in reading the DNA sequence. In the past, some families have been left with no diagnosis or vague answers for why their child is suffering from a particular disease. Now genomics may be able to explain or clarify clinical diagnosis. With over 5000 Mendelian Disorders it can prove daunting for even well trained specialists to come to the exact genetic diagnosis; however; exome or full genome sequencing may speed up this process and reduce costs.
As physicians gain experience with the interpretation and clinical utility of whole genomes, Genection can imagine a time soon when all people will have their full genomic information.