The Partners HealthCare Center for Personalized Genetic Medicine has begun to offer whole genome sequencing, a new method of comprehensive genetic testing that can aid in the detection and treatment of disease. One of the goals of this type of testing is to end the “diagnostic odyssey” for patients by confirming diagnoses and avoiding further testing.

While the procedure involves taking a simple blood sample from patients, rigorous clinical interpretation and analysis of complex genomic data makes the service expensive. However, more accurate diagnoses and more targeted and effective treatment modalities mean better patient care at reduced cost.  Scientists believe there is potential for widespread use of this type of comprehensive testing, not only for sick patients but for healthy individuals who may be at risk for inherited diseases.

Partners is one of the few health systems to offer whole genome sequencing. Committed to personalized medicine, Partners has invested in linking genetic information to electronic medical records. The Partners Center for Personalized Genetic Medicine is currently conducting a clinical trial, called the MedSeq Project, to study the integration of whole genome sequencing into clinical medicine. The study will allow investigators to evaluate how physicians use sequencing information in caring for patients. About two hundred patients are expected to participate in the study.

Read the Boston Herald article.