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Early roadmap for clinical cancer sequencing

Analysis of a study published in a science journal   |   By Dr Sowmiya Moorthie   |   Published 2 December 2011
Study: Personalized Oncology Through Integrative High-Throughput Sequencing: A Pilot Study
By: Roychowdhury S. et al. (27 authors total)
In: Science Translational Medicine
What this study set out to do:

Identify means of overcoming the practical challenges such as identifying suitable patients, informed consent, data analysis and feedback of results, to clinical implementation of next generation sequencing in cancer care.

How they went about it:

A pilot study was initiated involving four patients with advanced or refractory cancer who were eligible for clinical trials. Genetic counseling was offered to the patients and their informed consent gained prior to sequencing studies. The sequencing studies involved whole genome sequencing, targeted whole exome sequencing of tumor and normal DNA, and transcriptome sequencing (RNA-Seq) of the tumor to identify pertinent mutations within a clinical time-frame. Following clinical interpretation of the sequencing data, the clinical value of the results was deliberated by a multidisciplinary board consisting of individuals with expertise in ethics, oncology and genetics amongst.


Sequencing was able to identify clinically relevant variants in all the patients, some which could be used to stratify patients to a clinical trial. A potential method for obtaining informed consent and a method for establishing a multidisciplinary board that can deliberate if sequencing results are clinically relevant or not were also established.


Although the process outlined addresses some of the challenges in the clinical implementation of sequencing, further improvements and modifications are needed. One of the difficulties was the lack of lack of suitable trials for two patients, suggesting that a restricting of the eligibility criteria for trials of molecularly targeted therapies is needed.  

Our view:

Sequencing can be a valuable tool in cancer management by allowing molecular diagnosis and targeted and stratified interventions. However, integration of this technology into the care pathways requires overcoming a number of practical barriers and consideration of ethical issues.  Although a small study, this paper highlights some of the difficulties in clinical implementation and highlights the importance of multidisciplinary care in cancer management.

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