Partners going personal

Partners’ Lab for Molecular Medicine, led by chief laboratory director Heidi L. Rehm, has developed more than 150 genetic tests.

Leandra Mansur inserted reagents into affymetrix chips at the Partners Health Care Center genetic medicine lab in Cambridge.
Leandra Mansur inserted reagents into affymetrix chips at the Partners Health Care Center genetic medicine lab in Cambridge. –Jonathan Wiggs/Globe Staff

CAMBRIDGE — With personalized medicine becoming a key focus for medical research and diagnosing conditions, Partners HealthCare System, the region’s largest hospital and physicians network, is positioning itself to become a national leader in the emerging field.

Starting next month, Boston-based Partners will launch a “whole genome’’ sequencing and interpretation service for patients at its nine hospitals across Eastern Massachusetts, including Massachusetts General and Brigham and Women’s. The service, which will cost about $9,000, is intended to help doctors and patients make critical decisions about treatments — for example, which breast cancer drug could work best based on a patient’s genetic makeup.


Once it is up and running, the genetic screening and interpretation service — using a suite of proprietary Partners software — could be extended to hospitals elsewhere. Partners hopes the bulk of the cost in most cases will be picked up by private and government insurers that would otherwise pay more for trial-and-error treatments that may ultimately prove less effective.

But even before the introduction of the new service, Partners has capitalized on its technology to stake a claim in the burgeoning world of genetics-based medicine. Earlier this fall, it disclosed an alliance with Illumina Inc., a San Diego genetic analysis company, to install the Partners-designed software, called GeneInsight, in an Illumina gene sequencing hardware system called MiSeq. The system is being marketed to clinical research laboratories around the United States and abroad.

For now, the hardware-software product is only being used by a handful of pilot customers for targeted genetic tests, not the full genome screening. Partners’ own Lab for Molecular Medicine, led by chief laboratory director Heidi L. Rehm, has developed more than 150 such genetic tests. Data from those DNA-based procedures, along with patients’ blood and tissue samples being stored in Partners’ biorepositories, will help turn the program into whole-genome sequencing, a process currently performed by fewer than 10 labs nationally.


“Over the next three years, we predict that whole genome sequencing will become more mainstream,’’ said Trung Q. Do, the Partners executive director of business development who negotiated the collaboration with Illumina. “The price is dropping so quickly that it will soon become more cost-effective to do whole genome sequencing rather than targeted tests.’’

Personalized medicine uses an individual’s genetic information to better understand diseases, identify appropriate therapies, and determine which patients might be vulnerable to side effects. Its wide-ranging promise has captivated researchers since scientists first sequenced the human genome in 2000. A dozen years later, companies like Illumina are rolling out tools and services to help researchers — and, increasingly, patients — to understand their genetic blueprints.

For clinical use, however, a missing piece has been the ability to analyze, interpret, and store the voluminous data generated by sequencing. That’s where the software developed by Partners, and the clinical expertise of its physicians, comes into play.

“As an academic medical center, we can differentiate ourselves around interpreting genetic data,’’ Do said.

Much of the work on the project is being done at the low-profile Partners Center for Personalized Genetic Medicine, a network of labs and technology development teams tucked away in the University Park development in Cambridge among biotechnology research giants such as Novartis AG and Millennium Pharmaceuticals. In contrast to most Partners research activity, which takes place at its Harvard-affiliated teaching hospitals, the center is an extension of the Partners brand, underscoring the importance of personalized medicine.

“If you think about personalized medicine broadly, you need information that lets you predict diseases and target different therapies.’’ said Anne Klibanski, chief academic officer at Partners. “The goal is to not only help patients but also have an impact on the field nationally.’’


Partners officials say they are plowing the revenue they generate from the early sales of the GeneInsight-powered Illumina systems back into research, and don’t expect to make significant money from the undertaking anytime soon. But eventually the market for scanning and interpreting genetic data could be substantial, and Partners is considering spinning off a business or forming a joint venture to capitalize on its expertise.

Human health diagnostics, a business increasingly dominated by genetics-based analysis, is “a multibillion-dollar [annual] market for sure,’’ said Matt Posard, senior vice president and general manager for translational and consumer genomics at Illumina. “This is absolutely where science is going, where medicine is going. If you look at all the applications for knowing one’s own genome, it has all the characteristics of a revolution in molecular diagnostics.’’

Posard said 14-year-old Illumina is open to one day expanding its alliance with Partners to create an independent business, but he stressed the partnership is still in an early stage.

“We have a common vision for the future,’’ he said. “A physician will have a clinical question that current technology can’t address, and we can provide a medically validated answer.’’

Partners’ Lab for Molecular Medicine, led by chief laboratory director Heidi L. Rehm (right), has developed more than 150 genetic tests.

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