More precise diagnoses will encourage pathologists and clinical laboratory professionals to consider using exome sequencing for clinical diagnostic purposes
Having sequenced the exomes of 150 patients to diagnose unknown disorders over the past year, physicians at Columbia University (CU) used that information to make decisive diagnoses in one-third of the cases. It is evidence from one of the nation’s pioneering gene-sequencing programs that such data can improve how physicians identify disease.
Findings from Exome Sequencing Program Noteworthy for Pathologists
Pathologists will find it noteworthy that some of the patients in the exome-sequencing program had been tracked for years at CU without a definitive diagnosis. This is why clinicians at the academic center in New York City see value in exome sequencing for selected patients.
For more than a year, doctors at Columbia University have tested the exome’s capability to provide a correct diagnosis for patients with suspected genetic disorders of unknown origins. The primary goal of the program is to prove that sequencing the exomes of these patients is both clinically useful and cost effective in guiding physicians to a correct diagnosis. (more…)
Findings may help physicians tailor cervical cancer therapies to specific gene mutations and improve the accuracy of diagnostic screening tests for this disease
New scientific knowledge about the role of human papillomavirus (HPV) in the growth of cervical cancer is creating excitement within the medical community. Among other things, these findings could encourage more widespread vaccination against HPV. That in turn would lead to reduced Pap smear testing by pathology laboratories over time.
For these reasons, cytopathologists and cytotechnologists will be particularly interested in the research findings that were published as a first-ever, international genomic study of cervical cancer, which was published online December 25, 2013, at Nature.com. Researchers discovered that the location where HPV integrates itself into the human genome, is where it causes amplified gene expression that promotes and elevates mutated gene activity that may cause cervical cancer to develop. (more…)
Cloud-based genetic research networks that facilitate collaboration by stakeholders worldwide may solve the most difficult disease challenges, including a cure for cancer
Coming soon to a clinical laboratory near you: cloud-based “big data” genome analysis! A new industry is emerging dedicated to accepting, storing, and analyzing vast quantities of data generated by next-generation gene sequencing and whole human-genome sequencing.
There are already examples of academic departments of pathology and laboratory medicine that have outsourced the storage and annotation of whole human genomes sequenced from tissue specimens collected from cancer patients. The annotated genomes are returned to the referring pathologists for analysis. (more…)