Category Archives: Genetic Medicine

By a GenomeWeb staff reporter

NEW YORK (GenomeWeb News) Baylor College of Medicine's Medical Genetics Laboratory and Brazil's Dasa medical diagnostic laboratory announced on Friday an agreement to provide advanced genetic testing technology in that country.

Under the terms of the deal, Baylor's lab in Houston will conduct genetic testing and prepare a clinical report for Dasa, which will convey the results to the ordering physician in Brazil. The agreement also provides Dasa access to Baylor's database of clinical microarray results and access to Baylor's genetic research and diagnostic laboratory expertise, BCM said.

Luis Franco, assistant professor of molecular and human genetics at BCM, said in a statement that the collaboration is expected to create opportunities for technology transfer and the joint development of tests tailored to the Brazilian market.

Financial and other terms were not disclosed.

Dasa is Latin America's largest medical reference lab and the world's fourth-largest provider of diagnostic services, according to BCM.

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Baylor, Dasa Partner to Bring Genetic Testing to Brazil

WASHINGTON--(BUSINESS WIRE)--

A new report by UnitedHealth Groups (NYSE: UNH - News) Center for Health Reform & Modernization finds that a majority of physicians are utilizing genetic testing. The report, titled Personalized Medicine: Trends and prospects for the new science of genetic testing and molecular diagnostics, presents new findings on how genetic tests can help diagnose disease, target prevention, and ensure that patients receive the medicines that will best treat their conditions.

Genetic testing is currently available for about 2,500 conditions, including cancers and communicable diseases, and it is estimated to be growing by double digits annually. Full genome sequencing, which maps an individuals entire genetic code, is also expected to become widely available, possibly beginning as soon as later this year.

Genetic science offers unprecedented potential to prevent disease and improve diagnosis and treatment, ushering in an era of truly personalized care, said Simon Stevens, executive vice president, UnitedHealth Group, and chairman of the UnitedHealth Center for Health Reform & Modernization. But for patients to realize these practical benefits, we will also need new models of research and care delivery combined with informed choice and appropriate consumer safeguards.

The report sheds new light on three important questions:

What do U.S. doctors and patients think about genetic testing and molecular diagnostics?

How are these tests currently being used, and how might their use grow?

What practical action can be taken to ensure proper safeguards while accelerating progress for patients?

Report Includes New Survey Results on Patient and Physician Views on Genetic Testing

Most American consumers are optimistic about the potential benefits from advances in genetic testing, according to a national survey of U.S. adults conducted by UnitedHealth Group/Harris Interactive, included in the report. About three-quarters of survey respondents agree that genetic tests help doctors diagnose preventable conditions and offer more personalized treatment options. Most consumers expect that five years from now the use of testing will have increased. However, the coding system used across the country to monitor medical tests offers few codes to describe genetic tests for specific diseases.

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New Report Finds Greater Use of Genetic Testing, but Half of Physicians Concerned About Their Lack of Familiarity With ...

"We hope this study could help us at least identify those at greatest risk of disease"... Professor Paul Haber. Photo: Nic Walker

SCIENTISTS in Sydney will investigate why some heavy drinkers are more likely than others to suffer the potentially fatal long-term effects of alcohol. It will be a world-first study, as concern increases about the failure of public health campaigns to curb drinking rates.

Up to 5000 people with alcohol-induced cirrhosis of the liver will be tested to try to identify genetic triggers of the disease. The $2.5 million international study is the largest undertaken into the deadly condition.

A professor of addiction medicine at the Royal Prince Alfred Hospital, Paul Haber, said funding for cirrhosis research was ''relatively neglected''. It is hoped the study will also show why some people develop the disease despite relatively moderate alcohol consumption, Professor Haber said.

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''People are drinking more for a number of reasons, and we hope this study could help us at least identify those at greatest risk of disease,'' he said.

He compared cirrhosis to lung cancer, in that people were ''unlucky'' to develop either disease, despite the contribution of their own behaviour.

The lead researcher, Dr Devanshi Seth, said there was ''convincing evidence'' for a genetic basis predisposing some people to develop cirrhosis from all levels of alcohol consumption.

''We think there are several genes that together can work in such a way to cause liver disease, which is also influenced by diet, mental health, viral infection and gender,'' Dr Seth said.

The US National Institutes of Health is funding the study, which will include participants from six countries, including the US, Britain and France. Patients with cirrhosis will be examined alongside decade-long heavy drinkers without the disease.

Link:
Search for genetic clues to cruel lottery of drink-induced cirrhosis

By Alex Nussbaum - Mon Mar 12 04:00:00 GMT 2012

Genetic tests may become a $25 billion annual market in the U.S. within a decade, highlighting the need to identify which exams work the best, insurer UnitedHealth Group Inc. (UNH) said.

A majority of the 1,800 DNA tests developed to identify or manage medical conditions still havent been studied enough to prove their effectiveness, UnitedHealth, the biggest U.S. insurer by sales, said in a report today. The technology generated $5 billion in 2010, the insurer said, and three to five new tests are being introduced each month.

The projections bode well for diagnostics companies including Genomic Health Inc. (GHDX), Myriad Genetics Inc. (MYGN) and Life Technologies Corp., said Daniel Leonard, a Leerink Swann & Co. analyst in New York. They also raise questions about the effect on consumers, doctors and governments struggling with rising medical bills, UnitedHealth said.

While genetic exams hold great promise for better health and medical care, the Minnetonka, Minnesota-based insurer said in the report. They also pose significant challenges to a system that is increasingly unaffordable.

The paper, released to coincide with a Washington D.C. conference on gene testing, calls for cheaper, quicker methods to evaluate the quality of the technology, as well as better education for consumers about privacy protections.

The report echoed concerns from a study last week in the New England Journal of Medicine that found cancer screening may be less useful than hoped because of the wide variety of mutations found in tumors. That may explain why some oncology drugs become less effective even when targeted at specific genes, scientists from the U.K. said.

Genetic tests can be used to identify cancers, judge a persons predisposition to Alzheimers disease or gauge how well a particular medicine will work in a specific patient.

UnitedHealth, which covers 36 million people in its medical plans, spent about $500 million for genetic exams and molecular diagnostics in 2010, mostly to detect cancers and infectious diseases like HIV, todays report said.

The national figure may swell to $15 billion to $25 billion in 2021, with annual growth rates of more than 10 percent, the company said. It based the projections on internal claims and government Medicare and Medicaid data. The ultimate number depends on how popular the tests grow, how expensive they get and insurers willingness to pay, among other factors.

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Genetic Tests to Generate $25 Billion a Year, UnitedHealth Says

During one such visit a senior executive noticed that two of my colleagues, sitting next to each other, supported their system (two different implementations of the same software) across two different geographies. They happened to have the name of the systems they support, pinned to a board at their desks. The executive wanted us to take a picture of the two cubicles and email to him. We were quite surprised at the request. Before moving on to speak to other people he asked a couple of questions and realized the guys were sharing each other’s experiences and leveraging the lessons learnt from one deployment for the other geography.  It turned out that this does not happen in their organization, in fact their internal teams hardly communicate as they are part of different business units and geographies

Read full article on at inPharmatics

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Has anyone followed the literature on these companies that offer personalized genetic testing to customize oncologic treatments? In a recent study published in the NEJM a thought that has launched millions of Venture Capital Ships has encountered some very rough waters.


In fact I know of one Consumer Genetics founder whose "Second Pivot" was this whole theory of personalizing cancer therapeutics to a series of genetic tests.  A simple premise you see. One cannot characterize the molecular activity and weaknesses of a tumor through a microscope. With staining, you can see some insight but not all. Thus, you need to molecularly profile your cancer. 


The solution, we create an amazing molecular lab to take your tumor sample and "Personalized Treatment" based on our tests. Just make sure you get the tumor sample.


Simple enough to do one would think.


Except when you have multiple different tumors at multiple different sites. Worse yet, what if in the same sample you have different tumors?


Well, there is a flaw in the business plan.......


Enter March 8, 2012. "63 to 69% of all somatic mutations not detectable across every tumor region" Quote from NEJM Further "Mutational intratumor heterogeneity was seen for multiple tumor-suppressor genes converging on loss of function"


Ok, before you start the shorting and divestiture......


Caveats
1. This was only in Metastatic Renal Cell Carcinomas
2. This is only in four patients
3. This can be mitigated if you take multiple tumor samples and sequence multiple areas, I hope.


What does this mean really? Something that in our heart of hearts we already suspect we know. Once cells become cancerous and mutate, they are more likely to mutate more.  Why would they be restricted in their mutations over time?


The Sherpa Says: You can really personalized a tumor's treatment by removing the entire tumor. If you can't do that, you risk missing personalization by 50%.

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