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FDA sends letters to 5 genetic testing companies

It appears that the FDA sent letters to several different direct to consumer genetic testing companies. They are 23andme, Navigenics, DeCode, Illumina, and Knome, which provides whole genome sequencing. The FDA is claiming the tests must undergo approval as a medical device, but did not say anything about removing them from the market. The article also mentions that Pathway Genomics, the company producing the genetics tests that Walgreens considered selling in its stores, also received a letter.

Having recently received my 23andme results, I’m a little concerned by this statement:

Concern about the tests was also raised this week when 23andMe said that because of a laboratory mix-up, up to 96 customers might have received genetic information belonging to someone else.

I certainly hoped that they notified these customers of the potential error…

Seeking a lab

I’m working on a startup to develop a new pharmaceutical drug, and I need a lab to help with some of the development and testing. I figure the Thinkgene community might be able to help me out. I’m going to be a little sparse on details in the post, but I can give more information to those who ask.

I’m essentially looking for a lab that can perform an assay to screen a range of compounds for their effectiveness at activating a g-protein coupled receptor, preferably a cell based assay that uses cultured cells.

I have a lab that will generate the compounds that I’m interested in testing, but I need a lab to measure their ability to activate various receptors in neurons. Simple assays that just measure the Kd for the compounds and these particular receptors tend to underestimate the actual effectiveness in the studies I’ve read, so I would prefer an assay that measures something downstream of the receptor; hence why I think a cell based assay would be best. I have a few ideas of different approaches to do this, but it would be complicated by the fact that not much seems to be known about the downstream pathway of these receptors.

If a cell based assay is infeasible or unpractical, simply measuring the Kd would probably be sufficient (I have a protocol for this).

Eventually I would need a lab that can do animal studies with mice to test the compounds after the initial screening. So it would be great if the lab has experience with animal testing.

If anyone has lab or knows someone with a lab that would be capable and willing to help with these tests, please either post a comment with your contact information or email me at [email protected]

A Step Closer to Immortality?

I just read a short, interesting piece at the Telegraph about an increasing population of jellyfish that can apparently reverse their aging. I’m not entirely sure how this is possible and will be reading through published papers to see if I can figure it out.

From what I gather from the mainstream article, the cells dedifferentiate. Perhaps some of the pathways used are still present in humans? This species most likely has modified pathways that wouldn’t be the same in humans, and if they are unused in us chances are they are no longer in tact due to no selection pressure to maintain them. It could give some interesting clues about which areas to focus on for human aging research. Perhaps once day we will also be able to grow “younger” instead of just older. I’m sure Malthus would not be pleased…

Why the DTC companies will fail…or not?

There have been plenty of other posts here on Think Gene foretelling the failure of the DTC market, such as free microarray tests. The consensus is that for these companies to survive, they must enter the medical market.  Critics will say that while companies such as 23andme, Navigenics, and deCODE are just waiting for the right time to enter the medical market, I think there is a different reason why they haven’t entered this market: malpractice.

Let’s first examine the issues in pharmacogenomics with genetic testing. There’s a very well written academic paper by Gary Marchant titled Legal Pressures and Incentives for Personalized Medicine. Additionally, at Redorbit, Olga Pierce writes:

Thus far, lawsuits based on a failure to offer genetic testing before prescribing a drug have mainly targeted drug manufacturers’ deep pockets. But drug companies have circumvented legal problems by including information on genetics and the potential danger of the drugs in package inserts given to consumers with their medication.

That means doctors have become the new targets, Marchant said. It’s a short matter of time before we see a new wave of these cases. Juries are going to say ‘you should’ve done something different.’

But doctors are faced with a catch-22, he said. Most health insurance plans do not cover such genetic tests. If patients cannot afford them, the doctor must decide whether to risk malpractice allegations or simply not prescribe a potentially helpful medication.

Doctors are in a very difficult position, Marchant said.

Doctors’ general lack of training in genetics makes matters worse, he added. Anybody practicing medicine in the country in the next ten years has to understand genetics — or go out of practice.

Institutions and professional organizations can help by establishing clear guidelines for when genetic testing is required, he said, and medical schools should offer new doctors more genetics training.

Nonetheless, there will be a dangerous period for doctors, he said. It’s doctors that are going to bear a lot of the risk during the transition period.

So doctors are liable if they do not give a genetic test when one is available and it may help with prescribing medication. An example is Wafarin/Coumadin, which Dr. Steve Murphy talks about often at his blog, where people can have extremely adverse side effects if they have a particular genotype.

If a doctor did have the genetic data and still prescribed the medication, then it would be pretty clear grounds for malpractice.

Now imagine if a doctor or institution had access to a full microarray of genomic data (including high penetrance mutations). On the one hand, it would be great because if a doctor is prescribing Warfarin, he can easily check the genetic data on file to see if Warfarin is an appropriate medication for the patient. On the other hand, what about mutations that aren’t widely known yet but can be used to determine adverse reactions to drugs such as Warfarin?  If the data is on file, regardless of whether the doctor knows about the mutation, then he may be held liable for malpractice. Negligence could be argued.

This poses quite a problem for the current SNP microarray testing companies. Why would doctors get a whole genome scan which could potentially put them at higher risk for malpractice when they could simply order individual tests? It costs more, but it keeps them safer.

I now propose a simple solution: involve a third party. Say a doctor at a hospital orders a test for Warfarin. The cost of doing a microarray is essentially the same as doing a single genetic test, but the hospital doesn’t want all that data on file. Instead, a third party can do the test and instead only give the hospital access to the specific region that request. In addition to malpractice issues, the other reason for doing it this way is to reduce the cost of licensing fees; why pay the license fee for a BRCA1/2 test if it’s not actually needed? If another doctor later requests a BRCA1/2 test, it can be made available immediately without having to perform another test, and the patient or the patient’s insurance is billed accordingly.

This leaves the microarray DTC providers in quite a bind though. They spent significant resources to develop their genome browser, which is really what gives them their competitive advantage in the DTC market. However, this genome browser doesn’t help them in the medical arena, and in fact may even hurt them for the reasons stated above — information overload and malpractice liability from it.

The issue of gene patents [update]

Hospitals in Australia are stuck in a bad position when it comes to genetic testing. The Sidney Morning Herald has a piece discussing the patented gene SCN1A, which is used to diagnose a particular type of epilepsy in infants. The company that has the test patented, Genetic Technologies, won’t let hospitals do in house testing. Instead, they must resort to sending samples to Scotland to be tested…a process that takes a lot of time and costs much more than necessary. This results in worse care for the infants.

Babies with a severe form of epilepsy risk having their diagnosis delayed and their treatment compromised because of a company’s patent on a key gene.

It is the first evidence that private intellectual property rights over human DNA are adversely affecting medical care.

This is only the beginning of genetic testing. What role are patents going to play in this, especially considering that they seem to do more harm than good from the patent’s perspective. I wonder if there is some legal loophole that hospitals can use to get around this, at least in the United States. Perhaps it may work if the hospital conducted the test for internal research purposes only and then used the results after it had them, though I don’t know if this argument would hold up in court.

What do Think Gene readers think about this? Let’s hear your thoughts!

World-first network linking experts in proteomics and metabolomics

Josh: We’re going to see an increase in sites like this where researchers from various disciplines can help each other out. This site has contact information for experts in various fields, allowing labs to more easily collaborate to do interdisciplinary research. I foresee sites like this becoming more “social”, where there are forums or means for researchers in one discipline to ask questions to experts in another discipline. It’s actually surprising that this doesn’t already exist, but I suppose most Web 2.0 technologies haven’t really been applied to other areas yet.

A world-first network linking experts in two leading biotechnologies, proteomics and metabolomics, has been launched by The Hon Gavin Jennings at The University of Melbourne.

The portal website of Proteomics and Metabolomics Victoria (PMV) was activated during the opening of Metabolomics Australia’s node at the University, and is now publicly accessible at www.pmv.org.au.

“Nowhere else is there a cross-sector network of this nature, involving collaboration between academia, trade and industry,” said Professor Mike Hubbard of the University of Melbourne’s Department of Paediatrics, who spearheaded the initiative.

PMV aims to provide education about proteomics and metabolomics, to help scientists access these technologies, and to facilitate practitioners’ interactions with the numerous companies supplying this field.

“Education and workforce development is a central concern shared by academic and commercial members, and together we aim to establish training schemes tailored to our collective needs.”

The State Government of Victoria supported establishment of PMV through funding of a proposal made jointly by Prof Hubbard and Monash University’s Professor Ian Smith.

Simply put, ‘proteome’ means all the proteins in an individual and ‘proteomics’ is the study of as many of those proteins as practicable.

Proteomics provides scientists with a variety of key benefits including deeper understanding of biological processes, increased diagnostic power, and access to information not available from gene-based approaches.

Similarly ‘metabolomics’ is the study of numerous metabolites, which are small molecules such as breakdown products of food, hormones and drugs.

Metabolomics provides scientists with several benefits that are both powerful in themselves and complementary to those of proteomics.

Through its link with the varied and dynamic nature of metabolism, metabolomics offers a very sensitive fingerprint for the status of a biological system (e.g. whether it is healthy or diseased or laden with performance-enhancing drugs).

Proteomics and metabolomics are used in many different research scenarios from academic laboratories in search of hot discoveries through to commercial applications in biotechnology, agriculture and medicine.

In the laboratory, these technologies are typically used to unravel basic biological mechanisms, details of which could lead to new understanding and ideas. Such “nuts and bolts” advances might in turn be harnessed by applications scientists to guide development of new drugs or diagnostics, for example.

“We hope to improve scientists’ access to proteomics and metabolomics, and facilitate interactions between the supply companies and practitioners of these technologies.”

“We also hope to give students and the public a clear understanding about our field, and illustrate its successful practice in Victoria.”

“The website showcases the depth of information and services available in Victoria.”

Source: University of Melbourne