Stories about: personal genomics

Personal genomics takes flight as hospitals join forces with industry

A new spinoff business will make large-scale genomic diagnostics a reality in medical practice (Image: Rosendahl)

Genomic sequencing and molecular diagnostics are becoming a global business. At the recent American Society of Human Genetics meeting, dazzling technologies for reading genetic code were on display—promising faster, cheaper, sleeker.

Nevertheless, it’s become clear that the ability to determine someone’s DNA or RNA sequence doesn’t automatically translate into useful diagnostics or even actionable information. In fact, the findings are often confusing and hard to interpret, even by physicians.

That’s where academic-industry partnerships can flourish—tapping the deep expertise of medical research centers to bring clinical meaning to sequencing findings. Yesterday, Boston Children’s Hospital and Life Technologies Corp. announced a new venture with a great list of ingredients: fast, accurate, scalable sequencing technology—Life’s Ion Proton® Sequencer—but also research and clinical experience in rare and genetic diseases, bioinformatics expertise to handle the big data, and the medical and counseling expertise to create meaning from the results.

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The Gene Partnership: Hitting the road

The Gene Partnership (TGP) at Children’s Hospital Boston is now fully open for business, just in time for TGP Executive Director Dietrich Stephan, PhD, to hit the road to TEDMED, where he’ll be promoting TGP’s mission of “genetics for everyone.”

TGP was launched to harvest the fruits of the Human Genome Project–coupled with information technology, clinical data and other contextual information–to power the next wave of medicine. It approaches this goal differently than most personal genomics ventures, treating participants not as subjects but as partners. Patients can control what information they wish to share with a research project, and what information they receive back — benefiting from research findings directly and confidentially, free of charge.

Every child and family that visits Children’s can enroll, allowing researchers access to a rich, unparalleled repository of genetic information. Combined with faster gene-sequencing, mapping and data-crunching tools, the goal is for patients’ diseases to be diagnosed earlier and for new treatments — perhaps customized to the patient’s genome — to be moved to the market sooner.

Who would you rather give your DNA to?

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