Author: Alex Kentsis

Whole-genome sequencing in medicine: New knowledge, new responsibilities

(Karl-Ludwig Poggemann/Wikimedia Commons)

Recently, in the hospital cafeteria, I overheard a group of researchers discussing the upcoming availability of whole-genome sequencing to physicians. “We should devise a way to study how physicians will use this,” said one of them—underscoring the disruptive nature of the transformation that is currently happening in medicine.

The ability to immediately obtain whole-genome sequences from patients holds enormous potential for understanding and treating human disease. The list of studies reporting successful diagnosis of otherwise elusive orphan conditions is already too long to recount—more than 600 articles in PubMed as of the date of this posting—including poignant examples of advancing clinical care.

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Ideas fly at Proteomics 2011

“What is proteomics?” Answering this simple question was the motivation for the Proteomics 2011, an annual symposium hosted by Judith and Hanno Steen of the Steen & Steen lab and The Proteomics Center at Children’s, featuring global innovators and local advances in proteomics at Children’s Hospital Boston, held last week. As a video at the start of the symposium showed, it’s a question that elicits a wide range of answers:

Video courtesy of the Carino Agency.

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Smart cancer drugs need smart clinical trials

Smart drug drawingPediatricians are accustomed to caring for patients with rare diseases. But as all physicians know, common diseases can also behave in rare ways, either presenting in unusual forms or responding only to particular treatments. Recent advances in molecular medicine have confirmed this intuition, particularly in cancer, whose varieties can be virtually as unique as we are ourselves.

Oncologists have formed cooperative groups to meet this challenge long ago. But they remain outmatched by cancer itself: its biology is complex, with different tumors growing as a result of hundreds to thousands of aberrations in cancer genomes and cells. And, until recently, they’ve been limited by the process of traditional clinical trials.

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Patients and genes: Getting personal through information technology

Not long ago I sat in a room with a young patient and her parents, struggling to devise a treatment that would slow down the growth of her aggressive tumor, which continued in spite of intensive chemotherapy. We knew that the tumor was distinct — it responded to certain combinations of chemotherapy but not others — but we knew little about what drove its growth, and less about how to target our treatment for cure.

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Personalized rational medicine for all

Electrospray needle of a mass spectrometer

As a medical student at the last century’s end, I was taught to practice evidence-based medicine, to use the scientific method instead of the largely anecdotal, experiential practice of the physicians that came before. At this century’s beginning, medicine has begun yet another tectonic shift, termed personalized medicine.

Striving to use information about individual patients to their own benefit is probably as old as medicine itself.

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