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Posts from the ‘genetics’ Category

Personalized Genetics: FDA, DTC and GINA

Here are some interesting news and announcements to keep you absolutely up-to-date regarding the improvements of personalized medicine.

There are a number of reasons why DTC genetic testing may soon find itself subject to increased federal regulatory oversight. However, 23andMe’s widely publicized data error should not be one of those reasons. In fact, the sample swap, while unfortunately timed, actually presents a compelling argument in favor of the direct-to-consumer model for genetic testing.

A personalized medicine study from the Coriell Institute for Medical Research suggests that patients who undergo genetic testing are more likely to change their personal habits, writes Emily Singer at the Technology Review Editors’ blog.

Stanford University School of Medicine today said that it will offer a new course that gives medical and graduate students an option to study their personal genotype data. The university said that it believes it is the first medical school to offer students such a course. However, the University of Pennsylvania School of Medicine offered its fourth-year medical students a similar course in personalized medicine this past year.

Esther Dyson about Genomics

Esther Dyson answers questions about the direct-to-consumer genome market at the recent New York City Quantified Self Show&Tell meetup:

Personalized Genomics News: From Virtuality to the Streets

  • DNA As Crystal Ball: Buyer Beware (Newsweek): A genome-wide association study identified a new gene variant associated with Alzheimer’s disease but it turned out clinically it’s not useful.

“Adding these genes to traditional risk factors, such as age and sex, does nothing to aid prediction” of whether someone will develop Alzheimer’s, she told me. “Knowing your genetic status will not help. We may still be in the Stone Age when it comes to gene-based prediction.”

The United States House of Representatives Committee on Energy and Commerce today launched an investigation into direct-to-consumer (DTC) genetic testing, sending letters to three prominent DTC companies: 23andMe, Pathway Genomics and Navigenics.

  • 23andme: A detailed review of the data the blogger just received from 23andMe.

The family said they received no medical counseling here and are making their own conclusions.  One comment made is that the parents stated they will probably be using more pharmaceuticals, interesting.

A patient analyzes her own 23andMe data:

23andMe swapped samples!

What we were all afraid of finally happened. 23andMe admitted that it swapped some samples in the lab. Even if these things happen in labs, it should really not happen in such a sensitive area. We, bloggers and geneticians, have been writing about how hard it is for patients to analyze and interprete their direct-to-consumer genetic results properly and how hard it is for this market to remain attractive despite all the criticisms. And now they swap samples. Daniel MacArthur at Genetic Future has a nice review about all the related articles and news.

For example, a mother posted her recent story on the 23andMe community:

Still upset I checked family inheritance and noticed my daughter shared with me, and then I checked my son’s. He was not a match for any of us. I checked his haplogroup’s and they were different from ours. I started screaming. A month before my son was born two local hospitals had baby switches. I panicked and I checked over and over. My kid’s were sitting at the computer because we all wanted to see the results. My son laughed but he looked upset. I called my sister in tears.

Here is the full 23andMe announcement:

We recently determined that a number of new 23andMe customer samples were incorrectly processed by our contracted lab. We want to clarify what happened with the sample errors, how it happened and what we’re doing to prevent it from happening again. Providing each and every one of our customers with accurate data is 23andMe’s number one priority, and we fully realize the gravity of this incident.

Up to 96 customers may have received and viewed data that was not their own. Upon learning of the mix-ups, we immediately identified all customers potentially affected, notified them of the problem and removed the data from their accounts. The lab is now concurrently conducting an investigation and re-processing the samples of the affected customers and their accurate results will be posted early next week. We expect the investigation will be complete over the next several days and we will provide further details when we have them.

We are currently putting additional procedures in place that will add an extra layer of safeguards to help assure that similar incidents do not occur in the future. We are deliberating on a process that would include removing manual steps at the lab, completely automating the sample analyses, and implementing further checks of the data before it gets loaded into customer accounts. Please be assured that our testing laboratory’s processes comply with strict professional, regulatory, and corporate quality assurance standards for ensuring that all laboratory test results are accurate. The laboratory will adopt corrective action as warranted based on the findings of the investigation.

The science behind 23andMe’s personal genetics service remains proven and sound. We recognize that this is a very serious issue and your trust is of the utmost importance. We hope that this helps clarify what has happened and what we are doing to prevent these problems in the future. Please contact me at khomenko@23andme.com if you have any further questions. We appreciate your comments and feedback.

I cannot wait to hear what you have to say, Steve!

Personal Genomics Comes to US Drugstores

I’ve been writing about personal genomics for years. The standard concept of it is that you can order such genetic tests online, send your saliva or buccal swab to the lab where they analyze your DNA, then you can check online what kind of diseases you have elevated or lowered risk for. That’s how Navigenics, 23andMe or Pathway Genomics works. Now Pathway had a major announcement:

San Diego based startup Pathway Genomics announced today that it will begin selling its DNA collection kits at Walgreens drugstores beginning in mid-May, for about $20 to $30. Unlike a pregnancy test, users won’t be able to get results immediately. They will have to send in their saliva sample and then go to Pathway’s website to select the particular test they want. Users choose from drug response ($79), which assesses how well an individual can metabolize certain drugs, predicting the best dosage for that person or whether they will be susceptible to certain side effects; pre-pregnancy planning ($179), which determines whether parents carry mutations for serious genetic diseases; health conditions ($179), which assesses risk for a number of conditions, including diabetes, Alzheimer’s, prostate cancer and more; or a combination of all three ($249). The kits won’t be sold in New York because the state’s laws require medical professionals to be involved in this type of testing.

As you may know, I’m not totally against direct-to-consumer genetic testing, but I really would like to see doctors and genetic counselors in this process. I think selling such kits through drugstores can only happen in the US right now.

Well the Genomics Law Report blog has an extended and very detailed review about this important topic. An excerpt:

What has changed is their visibility. It is just possible that one of the safest strategies for avoiding regulation – out-of-sight, out-of-mind – played a significant role in the regulation (or lack thereof) of DTC genetic testing. Tests once predominantly available only to early adopters capable of seeking them out online will now begin to appear on the shelves of thousands of neighborhood drugstores nationwide. To a greater degree than ever before, genetic testing will soon be available to mainstream America (and subject to the impulse buy). And that, for better or for worse, may be all that it takes to convince some regulators that the time for action is finally at hand.

If your genes could talk, what would they say?

The presentation of Greg Lucier, CEO of Life Technologies on TEDMED.

Scitable: A Collaborative Learning Space for Science

I’ve recently come across Scitable, a Nature initiative, that aims to bring together a library of scientific overviews with a worldwide community of scientists, researchers, teachers and students.

DNATwist: Teaching Students About Pharmacogenomics

Berlin et al. published a very interesting paper in Clinical Pharmacology and Therapeutics about DNATwist which is an online tool for teaching middle and high school students about pharmacogenomics.

DNATwist is a Web-based learning tool that explains pharmacogenomics concepts to middle- and high-school students. Its features include (i) a focus on drug responses of interest to teenagers (e.g., alcohol intolerance), (ii) reusable graphical interfaces that reduce extension costs, and (iii) explanations of molecular and cellular drug responses. In testing, students found the tool and topic understandable and engaging. The tool is being modified for use at the Tech Museum of Innovation in California.

Genomics Education: Videos

Genome British Columbia has come up with a series of educational videos describing genomics, gene expression or genomics in everyday life.

(Via Genome Web)

End of Gene Patents?

It was just time to end the era of gene patents. About 20% of human genes have patents which is unacceptable. An excerpt from the New York Times story:

A federal judge on Monday struck down patents on two genes linked to breast and ovarian cancer. The decision, if upheld, could throw into doubt the patents covering thousands of human genes and reshape the law of intellectual property.

One of the individual plaintiffs in the suit, Genae Girard, who has breast cancer and has been tested for ovarian cancer, applauded the decision as “a big turning point for all women in the country that may have breast cancer that runs in their family.” Chris Hansen, an A.C.L.U. staff lawyer, said: “The human genome, like the structure of blood, air or water, was discovered, not created. There is an endless amount of information on genes that begs for further discovery, and gene patents put up unacceptable barriers to the free exchange of ideas.”

I’m really curious how Myriad will respond to it…

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