New genetic testing can be used to develop personalized risk assessments and disease management plans for variety of genetically caused diseases.
There has been a very rapid development during the past couple of years, with the number of commercially available genomic tests growing by 25% annually; this has been especially evident in hematology and oncology. Concerns and uncertainty about reliability and interpretation of results remain an issue. Clinicians are trying to corroborate the findings yielded by this technology with clinical events.
Where Are They Now
Genetic testing that can be used for personalized risk assessment and disease management has undergone very rapid development during the past couple of years particularly in cardiology, with the number of commercially available genomic tests growing by 25% annually. Clinicians are trying to corroborate the findings yielded by this technology with clinical events, changing medicine from a reactive practice to a preventative one.
Partial genome sequencing tests are now available for consumers to purchase online that can determine genetic variations through single nucleotide polymorphisms. As technology advances, the cost of sequencing has been decreasing twice as fast as the cost of informatics to analyze all of this data. A company at the forefront of this convergence is working to combine multidimensional genomic-phenotypic associations, sequencing and analytics infrastructure for each patient’s profile. The company aims to sequence 1 million genomes by 2020 and is committed to integrating standardized phenotypic records.