Can a Genomics Platform Model Work in Diagnostics?

Start-Up -- deCODE Genetics has emerged from bankruptcy with a streamlined, diagnostics-oriented business model. In the near term, the privately held firm expects to offer its genomics discovery capabilities on a service basis, echoing the original genomics platform specialists of the late 1990s, including deCODE itself, which did largely unsuccessful technology deals focused on using genetic insight to generate therapies. The difference? It is now using genetic information to assess disease risk and better manage patient health, a strategy it thinks will succeed as the field of personalized medicine diagnostics continues to gain traction.

By Mark L. Ratner

Elsevier Business Intellingence

Identification of bipolar risk gene

A collaboration, led by scientists at the Garvan Institute of Medical Research and the University of New South Wales (UNSW) in Sydney, has discovered the first risk gene specifically for bipolar disorder, also known as manic-depressive illness. This means that people who have a particular form of this gene are twice as likely to develop the disease.

Lead author, Dr Ian Blair, says: “We are the first group in the world to take a multi-faceted approach to identify a bipolar risk gene - we used a number of families, unrelated patients, and therapeutic drug mouse models. Each of these three lines of investigation led us to a gene called FAT.”

Contributing author Professor Phil Mitchell, Head of Psychiatry at UNSW, says: “Over the last twenty years we have collected blood samples from 67 families right across Australia. This amounts to hundreds of family members (904), some of whom are spread across four generations. This was a strong starting point in our hunt for a Bipolar gene.”

"We know that the FAT gene codes for a protein that is involved in connecting brain cells together, what we need to do now is find out exactly how it contributes to the increased risk of bipolar disorder,” explains Dr Blair.

While other scientists have found genes associated with Bipolar, most of them haven’t stood up to scrutiny. The Sydney discovery has been verified in four independent study groups: two in the UK, one in Australia, and one in Bulgaria.

Bipolar disorder is a major psychiatric illness affecting around two people in every 100. Tragically, around one in six people suffering from the condition will commit suicide.

Mood-stabilising medications are typically prescribed to help control bipolar disorder. Lithium was the first mood-stabilising medication approved by the U.S. Food and Drug Administration (FDA) for treatment of mania. For decades it has been widely prescribed for the treatment bipolar disorder, yet no one knows for sure why it works.

“Lithium has a number of severe side effects that include tremor and weight gain. Kidney dysfunction may develop in a small proportion of patients when it is administered for long periods of time,” says Professor Mitchell.

This new research has raised the possibility that lithium exerts its therapeutic affect by altering FAT gene expression, as well as the expression of genes encoding FAT’s protein partners.

“Once we understand exactly what the FAT gene does, we will be able to develop better diagnostic tests for bipolar disorder. In the future, we hope our research will lead to new, targeted medicines specifically for bipolar disorder that don’t have the unpleasant side effects that lithium has,” says Dr Blair.

http://www.unsw.edu.au/

First Illumina HiSeq Machines Advertised

News: the Illumina HiSeq can produce 200 gigabases (Gb) of sequence data and 2 billion reads per run. When it was launched we knew that BGI in China had signed an agreement to buy 128 of these machines but no-one has fessed up to owning one just yet.

Things might have changed today.

Two updates to the map of high-throughput sequencers, one hot on the heels of the other are both advertising HiSeq capability in Europe. GATC and DNAvision, both service companies have updated the map to say they have a HiSeq machine ready and waiting to service customers. Their corporate websites are a bit less clear on whether it has actually arrived yet, indicating probably that the HiSeq has just been ordered.

Medco Acquires DNA Direct: A Great Step for Personalized Medicine

Combined capabilities will deliver precision health services designed to improve

clinical and financial outcomes

FRANKLIN LAKES, N.J. and SAN FRANCISCO, Feb. 2, 2010 –– Committed to being at the forefront

of translating personalized medicine from the science to its daily practice in healthcare, Medco Health

Solutions, Inc (NYSE:MHS) today announced the acquisition of DNA Direct, Inc., a leader in providing

guidance and decision support for genomic medicine to patients, providers, payors and employees.

Financial details of the acquisition were not released.

“DNA Direct has been a recognized pioneer in assimilating knowledge about molecular diagnostic testing

and deploying certified genetics professionals to help rationalize the opportunities and implications faced

by many in this new and rapidly evolving field,” said David B. Snow Jr., Medco chairman and chief

executive officer.

By integrating DNA Direct’s physician, client and patient support services and capabilities with Medco’s

growing portfolio of personalized medicine capabilities and extensive customer base, Medco intends to

deliver a broader suite of precision health services, ranging from consumer education to clinical decision

support.

“Medco is simply the most innovative and forward thinking healthcare company in the industry today,”

said Ryan Phelan, DNA Direct founder and CEO. “Having spent the past 25 years as an entrepreneur

translating healthcare information to patients, I can’t think of a better partner to take personalized

medicine to the next level.”

DNA Direct is the first genomics-focused company offering URAC-accredited utilization management

programs to help payors ensure the appropriate use of the more than 2,000 genetic and molecular tests

available today. URAC is a Washington D.C.-based health care accrediting organization that establishes

quality standards for the health care industry. DNA Direct’s national call center of genetic experts,

complemented by online decision support services help physicians and patients determine if genetic tests

are appropriate and how to use genetic test results to guide clinical decisions. Medco’s existing

personalized medicine approach encompasses a robust pipeline of important pharmacogenetic research,

turnkey testing programs for drugs like tamoxifen and warfarin, and warnings on over 50 drug-gene

interactions, which are used by Medco's specialist pharmacists to inform physicians and patients about

potential therapy adjustments to ensure the safety and efficacy of the treatment.

“When a Fortune 50 company like Medco makes a commitment to personalized medicine with an

acquisition like this, it’s proof positive that we are at a turning point in the healthcare industry,” said

Sharon Terry, president and chief executive officer of Genetic Alliance. “Integrating Medco’s

phenomenal capacity to respond to its members, with the innovative and creative patient-focused services

of DNA Direct is a win for all consumers.”

The DNA Direct purchase builds upon Medco’s commitment to advancing pharmacogenomics (PGx), a

cornerstone of which is the company’s Personalized Medicine Research Center. The research center is

dedicated to furthering the understanding of the impact of genetics on patient medication response and

applying that science to clinical practice. As knowledge is gained through the research, applications will

be rolled out to the broader client base within Medco’s precision health services.

“By integrating proven state-of-the-art science into every day care, we are providing patients and

providers with actionable information that drives more personalized care to achieve higher efficacy or

improved safety,” said Dr. Robert Epstein, Medco’s chief medical officer. “We have already started this

today with our existing Personalized Medicine programs. DNA Direct will serve to accelerate our speedto-

market implementation capabilities, transforming research into actionable services to meet the

demands of our clients and patients.”

About Medco

Medco Health Solutions, Inc. (NYSE: MHS) is pioneering the world’s most advanced pharmacy® and its

clinical research and innovations are part of Medco making medicine smarter™ for more than 60 million

members.

With more than 20,000 employees dedicated to improving patient health and reducing costs for a wide

range of public and private sector clients, and 2008 revenue exceeding $51 billion, Medco ranks 45th on

the Fortune 500 list and is named among the world’s most innovative, most admired and most trustworthy

companies.

For more information, go to http://www.medcohealth.com.

About DNA Direct

DNA Direct was founded in 2005 to deliver guidance and decision support for genomic medicine to

patients, providers and payers -- reducing health risks, preventing disease, and better targeting therapies.

The first genomics-focused company to receive full URAC accreditation for utilization management in

the U.S, DNA Direct’s comprehensive clinical programs combine proprietary technology with genetic

expertise including a national call center of genetic experts, web-based applications, and educational

resources and training. The company is based in San Francisco and was backed by Firefly Investments

and Lemhi Ventures. For more information, visit www.dnadirect.com.

The Top Science Progress Features of 2009

In 2009, we saw a renewed engagement with ethical questions about how we regulate biotechnology, watched the conservative war on science continue on new fronts, and witnessed renewed commitments to grow U.S. prosperity with investments in science and technology.

Timeline: A Brief History of Stem Cell Research

One of our most popular features ever, this interactive timeline marked key moments, beginning the in the 1970s, from the interrelated stories of human embryonic stem cell research and the policy governing that work. The piece collects research featured in the Center for American Progress report, “A Life Sciences Crucible: Stem Cell Research and Innovation Done Responsibly and Ethically.” The Obama administration’s final stem cell policy closely resembledthe one recommended in the paper.

Dude, Where’s My War on Science?

By Chris Mooney

Conservatives tried to expose what they claim was a case of science suppression by the Obama administration—and in the process demonstrated how little they know about science in the first place. The attack on EPA’s policy process, Mooney explained, fails peer review.

The George Will Scandal

By Chris Mooney

When The Washington Post ran a column by Will rife with errors on climate science, Mooney asked: If a major media outlet can’t even correct facts about global warming, is it still socially relevant?

What Does This Generation Think it Means to be a “Scientist”?

By Chris Mooney

Many students don’t see a life of academic specialization as the best way to employ their scientific talents. They want to do something more to bring science to the rest of America. Changing definitions could entail a changing relationship between science and society, wrote Mooney.

How the Global Warming Story Changed—Disastrously

By Chris Mooney

Skeptics didn’t need good science to make another attack on climate change research. Their strength has always been in communication tactics anyway, and not scientific exactitude or rigor, wrote Mooney, examining the fallout from the “ClimateGate” scandal. And the U.S. public, never overwhelmingly sure about climate change, has long been susceptible to their smokescreens and misinformation campaigns.

Throwing the Baby Out With the Amniotic Fluid

By Michelle N. Meyer

One important distinction that is not made often or clearly enough by either ethicists or lawyers is that between decisions to procreate and decisions not to procreate. Witness, for instance, the reaction to Nadya OctoMom™ Suleman.

Hold Off On Holdren (Again)

By Chris Mooney

Conservatives found another ludicrous charge to hurl against the president’s science adviser. It was just the latest attempt to distract from actual science policy.

Autonomous Contraception

By Lisa Campo-Engelstein

A recent discovery, wrote Campo-Engelstein, might open the door to an effective male contraceptive drug, a technology that could have been developed decades ago, were it not for social factors that enable women but not men to effectively regulate their fertility outside of sexual activity and without their partner’s participation or knowledge.

Regional Centers of Innovation 101

Regional centers such as Silicon Valley and Boston cultivate technology-based economic development through a dynamic mix of researchers, entrepreneurs, investors, and infrastructure. Drawing lessons from their success can help revitalize the U.S. economy. This feature marked the beginning of our ongoing project developing policies that support innovation clusters around the country.

(Source: Science Progress)