genomeboy.com

Japanese researchers announce a major accomplishment in this issue of Nature: the creation of the first transgenic primates able to pass on a foreign gene to their offspring (see pages 492, 515 and 523). Because the primates in question are marmoset monkeys that are distant from humans in an evolutionary sense, this experiment has little immediate bearing on the modification of human germ lines — a prospect that many people find unacceptable in any case. But the advance will lead to more sophisticated models for human disease, physiological development and neurogenetics. And in so doing, it will inevitably draw more attention from animal-rights activists.

The world that was not mine yesterday now lies spread out at my feet, a splendor. I seem, in the middle of the night, to have returned to the world of apples, the orchards of Heaven. Perhaps I should take my problems to a shrink, or perhaps I should enjoy the apples that I have, streaked with color like the evening sky.

- John Cheever (1912-1982), born 97 years ago today  (via The Hausfrau and The Writer’s Almanac)

An oldie but a goodie

For those of you in the Raleigh-Durham-Chapel Hill environs, I will be at Tir Na Nog Irish pub tonight in Raleigh for a science cafe sponsored by the North Carolina Museum of Natural Sciences. Here’s some blurb:

Science Cafe: Letting it All Hang Out, The Personal Genome Project
Date: May. 19 - May. 19; 6:30-8:30 pm with discussion beginning at 7 pm followed by Q & A
Location: Other - Tir Na Nog, 218 South Blount Street, Raleigh, 919.833.7795
Fee: Free

Two years ago no one knew what personal genomics was; now it’s everywhere. For a few hundred dollars, you can have a peak at part of your own genome. You can theoretically learn your genetic risks for various diseases. And some companies say you can find romance based on your DNA. But what is all this stuff really? What does it actually mean? What will genomic privacy look like in the digital age? The Harvard-based Personal Genome Project is exploring large-scale DNA sequencing and seeing what happens when genomic data are made public; its organizers hope to help answer some of these questions.

So come on out, have a pint and/or some Irish coffee, and we can talk about 23andMe, exomes ($25,000–yeah baby), privacy and of course, Penguins Hurricanes hockey.

Nothing like a little primum non nocere when a guy is dying of Lou Gehrig’s disease:

As Joy helped Joshua with his mounting physical needs and cared for their son, Wyatt, who had been born two weeks after Joshua’s diagnosis, the couple pressed Kathy to explore Joshua’s medical options.

They decided he should try what seemed like the next best thing to Iplex — the drug that had triumphed over it in the patent dispute. But the first neurologist they visited refused to give him a prescription.

“This could cause hypoglycemia,” he told Joshua, warning that low blood sugar could result in seizures or brain damage.

“I’ll take my chances of hypoglycemia over laying in the gutter,” Joshua replied fiercely, but the doctor did not relent.

And it gets worse:

The F.D.A. had a month to respond from the date it received Joshua’s application on Dec. 16. When Joshua asked about Iplex now, Kathy told him, “It should be any day.”

On Jan. 16, when Dr. Werwath called to tell her the application had been rejected, she stood up in disbelief.

“How could that be?” she asked, dazed.

Kathy’s friend Mrs. Reimers had received a call with the same news.

“He said they had safety concerns,” Mrs. Reimers said. “This for a drug that was approved for children!”

“Safety,” Kathy repeated. “And what, exactly, is safe about A.L.S.?”

They all want to know

How can you patent a gene

Maybe soon you can’t

Fantastic article in the Boston Globe about former George Church-student Katherine Aull, who has set up a lab in her apartment and is testing herself for hemochromatosis mutations.

(Hat tip: GenomeWeb)

A couple of months ago Nature Biotechnology (subscription only) ran an editorial poo-pooing Genentech’s call for the FDA to regulate laboratory-developed tests. Genentech is concerned that some diagnostic tests used to guide treatment with its breast cancer blockbuster drug, Herceptin ($1.4 billion in the US alone last year), are not up to snuff. Nature Biotech thought more regulation would be a mistake. This month, the magazine offers a bevy of responses.

From Hal Barron of Genentech:

Imagine the outcry that would arise from both the public and scientific community at the suggestion that FDA review of new medicines and medical devices be curtailed because there are too many, they cover too many areas and reviewing them all would just be too expensive and would stifle innovation. These are essentially the arguments being made against the review of in vitro diagnostics.

From Kathy Hudson and Gail Javitt of the Genetics & Public Policy Center:

…In the age of personalized medicine, drugs will be only as good as the tests used to make prescribing and dosing decisions; FDA can’t ensure the safety and effectiveness of drugs if it can’t also ensure that the tests are good.

Contrary to the position of the journal, FDA’s role is the protection and promotion of public health, not the protection and promotion of the genetic testing market. It is this philosophy that undergirds US President Obama’s recent decision to reverse regulatory deference to market forces in promulgating measures to protect the public health and welfare.

From Alan Mertz of the American Clinical Laboratory Association:

It is our sincere hope that the new administration will lead the effort to accelerate personalized medicine with a commitment to regulatory balance and allow this remarkable science to progress without placing needless burdens on a now thoughtfully regulated industry.

From Drew Fromkin of genetic testing firm Clinical Data*:

The techniques and technologies that support the development and enhancements of biomarker-based tests require substantial resources, including significant financial investment. In order for important advances to continue, regulatory policy must create appropriate incentives to stimulate and foster a collaborative environment. We believe Genentech’s proposed change to the current regulatory framework for these tests will stifle the very innovation that drives significant advances in patient healthcare.

And last but not least, an exclamation point-free missive from our favorite Gene Sherpa:

As demonstrated by the patient who called us with a Promethease report**, as alternative means for patients to access and interpret their own biometrics become available, the burden of the traditional health provider will be transferred squarely onto patients. It will be up to patients to sift through reams of information and come up with their own, nonprofessional conclusions.

Of course, such a system may have advantages to an educated patient, but this shift assumes that the patient, when scouring the internet for information, can do the following: (i) find a reliable source of information; (ii) understand the language at such a level that they will come to an educated conclusion; (iii) discover evidence showing whether this intervention may be beneficial or harmful; and (iv) use this information to properly implement the intervention.

*Disclosure: I wrote a case study of intellectual property attached to Long QT syndrome susceptibility gene. Since 2005, Clinical Data has been the sole provider of commercial testing for LQTS in the US.

**way to pimp SNPedia, bro!

The Personal Genome Project, which recently began the process of expanding its ranks, is founded on the idea of open consent: if you become a participant, there will be no serious attempt made to keep your DNA sequence or phenotypic data confidential. Participants take an exam and must score 100%; they learn the risks before they sign up. Given the almost-daily revelations about performance-enhancing drugs in baseball, might something akin to the PGP’s libertarian/caveat-emptor approach to genomic information be taken with athletes and PEDs? Jere Longman seems to think it might:

If there is anything to be gained from this latest suspension, hopefully it will be a serious debate about whether punishing athletes is justified or selective persecution. Baseball must ask itself whether it is better to continue harsh punitive measures -– which have had unintended consequences in other sports — or to educate athletes about doping and let them proceed at their own informed risk.

In case you were wondering…someone took the plunge.