How Molecular Information Is Changing Diagnosis

As clinicians work to discover effective means to incorporate molecular information into clinical diagnoses, recent publications show that several distinct models are beginning to emerge. At the center of these efforts are innovative ways to better integrate complex molecular data with phenotypical presentation during the diagnostic process. DTET examines two models—one in oncology and one in genetics—that provide insight into how some institutions are working to accelerate the effective transition of sequencing-based testing into clinical care. In the first case, Moores Cancer Center (La Jolla, Calif.) describes its experience of establishing a molecular tumor board that incorporates the expertise of basic scientists and bioinformaticians into the clinical decision process. In the second case, German-based researchers have developed a software algorithm that can integrate targeted exome sequencing results with a structured set of phenotypic descriptors in order to increase the efficiency and scalability of medical genetic diagnoses. A molecular tumor board can provide multidisciplinary expertise that allows oncologists without advanced genomic training to incorporate molecular profiles of complex cancer care, according to a study published this summer in theOncologist. The molecular tumor board initiated at Moores included clinicians, basic scientists, geneticists, and bioinformatics/pathway scientists. Because molecular abnormalities “do not segregate by […]