genomeboy.com

Excerpts from The Federal Register, 7 October 2009 (pdf, but a total page-turner):

Genetic information is defined, with respect to an individual, as information about the individual’s genetic tests or the genetic tests of family members, the manifestation of a disease or disorder in family members of such individual (that is, family medical history), or any request of or receipt by the individual or family members of genetic services. The definition further clarifies that genetic information does not include information about the sex or age of any individual.

A disease, disorder, or pathological condition is manifested when an individual has been or could reasonably be diagnosed by a health care professional with appropriate training and expertise in the field of medicine involved. However, the definition further provides that a disease, disorder, or pathological condition is not manifested if a diagnosis is based principally on genetic information.

GINA’s prohibition on the use and collection of genetic information could increase the potential for adverse selection in the individual health insurance market. Adverse selection arises when individuals seeking coverage have information about their health risks that issuers do not know.

To the extent that GINA and these interim final regulations prohibit group health plans and issuers from incentivizing employees to complete [health risk assessments]  requesting genetic information including family medical history, and response rates for HRAs drop as a consequence, a cost may be incurred that is associated with the forgone benefits of identifying disease risks early and preventing their onset.

The more I read this statute, the less I like it.

“Cancer’s A Funny Thing”

I wish I had the voice of Homer
To sing of rectal carcinoma,
Which kills a lot more chaps, in fact,
Than were bumped off when Troy was sacked.
Yet, thanks to modern surgeons’ skills,
It can be killed before it kills
Upon a scientific basis
In nineteen out of twenty cases.
I noticed I was passing blood
(Only a few drops, not a flood).
So pausing on my homeward way
  From Tallahassee to Bombay
I asked a doctor, now my friend,
To peer into my hinder end,
To prove or disprove the rumour
That I had a malignant tumour.
They pumped in BaSO4
Till I could really stand no more,
And, when sufficient had been pressed in,
They photographed my large intestine.
In order to decide the issue
They next scraped out some bits of tissue.
(Before they did so, some good pal
Had knocked me out with pentothal,
Whose action is extremely quick,
And does not leave me feeling sick.)
The microscope returned the answer
That I had certainly got cancer.
So I was wheeled into the theatre
Where holes were made to make me better.
One set is in my perineum
Where I can feel, but can’t yet see ‘em.
Another made me like a kipper
Or female prey of Jack the Ripper.
Through this incision, I don’t doubt,
The neoplasm was taken out,
Along with colon, and lymph nodes
Where cancer cells might find abodes.
A third much smaller hole is meant
To function as a ventral vent:
So now I am like two-faced Janus
The only* god who sees his anus.
(*In India there are several more
  With extra faces, up to four,
  But both in Brahma and in Shiva
  I own myself an unbeliever.)
I’ll swear, without the risk of perjury,
It was a snappy bit of surgery.
My rectum is a serious loss to me,
But I’ve a very neat colostomy,
And hope, as soon as I am able,
To make it keep a fixed time-table.
So do not wait for aches and pains
To have a surgeon mend your drains;
If he says ‘cancer’ you’re a dunce
Unless you have it out at once,
For if you wait it’s sure to swell,
And may have progeny as well.
My final word, before I’m done,
Is ‘Cancer can be rather fun.’
Thanks to the nurses and Nye Bevan
The NHS is quite like heaven
Provided one confronts the tumour
With a sufficient sense of humour.
I know that cancer often kills,
But so do cars and sleeping pills;
And it can hurt one till one sweats,
So can bad teeth and unpaid debts.
A spot of laughter, I am sure,
Often accelerates one’s cure;
So let us patients do our bit
To help the surgeons make us fit.
                        - J.B.S. Haldane

James D. Watson on the Tropic topic of cancer:

Restarting the War on Cancer has to start at the top: in 1971, Congress decided that the president, not the head of the National Institutes of Health, should appoint the director of the National Cancer Institute. Yet like all too many outposts of the White House, the institute has become a largely rudderless ship in dire need of a bold captain who will settle only for total victory.

Many people feel that it is a more elevated act to donate anonymously: not to pick a recipient, in other words, but simply to show up at a hospital and offer one’s kidney, leaving it to the transplant center to assign it to the next person on the list. Sometimes the recipients in these transactions choose not to meet their donors; sometimes they don’t even send a note to say thank you. For a donor to pick a recipient through a service like MatchingDonors can seem, from this perspective, like egotism—playing God by choosing who will live, and encouraging gratefulness by arranging for a relationship with the recipient. But, in a certain literal sense, a nondirected donation is not altruistic in a way that picking a recipient is, because there is no other there. There is no human story, just a principle; the only thing visible to the donor is his own shining deed.

Larissa MacFarquahar on kidney donation in the New Yorker (registration required). Wow. Best nonfiction I’ve read this year.

The report said 85 percent of science association members surveyed said public ignorance of science was a major problem. And by large margins they deride as only “fair” or “poor” the coverage of science by newspapers and television.

Only 3 percent of the scientists said they “often” spoke to reporters.

In a telephone news conference announcing the survey, Alan I. Leshner, chief executive of the science association, said scientists must find new ways to engage with the public.

“One cannot just exhort ‘we all agree you should agree with us,’ ” Mr. Leshner said. “It’s a much more interactive process that’s involved. It’s time consuming and can be tedious. But it’s very important.”

Hmmm. The head of the most important science organization in the country, if not the world, starts from the premise that educating and interacting with the public about science is time consuming and “can be tedious.” I can’t imagine why so much of the citizenry knows and cares so little about what we do. Can you?

I’m not always the biggest Gina Kolata fan, but her piece in this morning’s New York Times is a must-read:

Yet the fight against cancer is going slower than most had hoped, with only small changes in the death rate in the almost 40 years since it began.

One major impediment, scientists agree, is the grant system itself. It has become a sort of jobs program, a way to keep research laboratories going year after year with the understanding that the focus will be on small projects unlikely to take significant steps toward curing cancer.

“These grants are not silly, but they are only likely to produce incremental progress,” said Dr. Robert C. Young, chancellor at Fox Chase Cancer Center in Philadelphia and chairman of the Board of Scientific Advisors, an independent group that makes recommendations to the cancer institute.

The play’s the thing:

For the second study, Ms. Sands sent identical scripts to artistic directors and literary managers around the country. The only difference was that half named a man as the writer (for example, Michael Walker), while half named a woman (i.e., Mary Walker). It turned out that Mary’s scripts received significantly worse ratings in terms of quality, economic prospects and audience response than Michael’s. The biggest surprise? “These results are driven exclusively by the responses of female artistic directors and literary managers,” Ms. Sands said.

Amid the gasps from the audience, an incredulous voice called out, “Say that again?”

Ms. Sands put it another way: “Men rate men and women playwrights exactly the same.”

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.

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!