Author Archives: laurahercher

by | December 19, 2011 · 10:31 PM

On The Old Saw: That Personalized Medicine Will Cost Money In Theory But Will Be A Money-Saver In Practice*

June, 2011 marked the 10th anniversary of the great ‘Mission Accomplished’ moment of the Human Genome Project, when President Clinton, with no regard whatsoever for his own personal safety, stood directly in between Francis Collins and Craig Venter to announce the completion of “the most important, most wondrous map ever produced by humankind.”  In November, in honor of the occasion, the American Museum of Natural History, in partnership with the Council for Responsible Genetics, hosted a panel discussion entitled “The Human Genome and Human Health – Will the Promise Be Fulfilled?”  This was an opportunity for four very smart people to recap the discussion of everything that hasn’t happened as predicted in the last 10 years (Oh, the missing heredity!  Oh, the shortcomings of personal genomics!) and why, in retrospect, this was all entirely predictable, as things generally are in retrospect.  And then the two scientists on the panel predicted that we are on the cusp of great things and the two social scientists on the panel warned that great things come at a steep price and we all agreed, and why not?  After all, we almost always are, and they almost always do.

The thing about making predictions is that it is hard to get it wrong if you go with generalities (it’s always something!) and even harder to get it right, if you are going after specifics.  Thousands of people will have a heart attack this year.  The guy sitting in front of you with the ten pounds of jelly donut hanging over his belt buckle?  Hard to say.  So we in the prognostication business cling to certain reliable, gospel truths.  Technology will get faster and cheaper every year!  Understanding pathophysiology will lead to cures!  You will meet a tall, dark, handsome stranger!  No – sorry, that one isn’t us.  New studies will illuminate the relationship between genotype and phenotype!  Hallelujah.

Here’s another one: personalized medicine will save us money!  Can I get an amen?  It’s something we hear all the time, in medical journals and newspapers and political speeches.  “The savings from personalized medicine,” said a man in the audience at the panel discussion, nodding his head with conviction, “how soon we will see that?”

“Well,” said Dr. Robert Green, renowned neurogeneticist from Beantown (Hah-vard, of course) “I am not convinced that it will save us money.  I think it might cost us money.”  You could almost hear the band stop playing.

Is he right?  The Personalized Medicine Coalition cites savings as one of the intrinsic advantages:  “The cost of health care in the United States is on an unsustainable upward climb. Incorporating personalized medicine into the fabric of the health care system can help resolve many embedded inefficiencies, such as trial-and-error dosing, hospitalizations due to adverse drug reactions, late diagnoses, and reactive treatments.” (The Case For Personalized Medcicine, 3rd Edition.)

But think about it.  Someone comes into your office carrying their personal genomic printout from 23andMe or Navigenics or whoever comes next.  They have an increased risk of Condition X.  What do you suggest?  Step 1: increased screening and testing.  Well maybe the testing modalities are not that good.  Too bad.  You suggest them anyway, because it is downright cruel to tell a person they have an increased risk of the dreaded Condition X and that THERE IS NOTHING TO DO ABOUT IT.  Why do we send people who are BRCA 1 or 2 positive for bi-annual screening of their ovaries?  Because it is a great screening test?  Noooo.  Because it is all we have to offer?  Bingo.

And remember, that printout is going to contain multiple increased risks.  So, step 2: return to step 1, and repeat.

Now, conversely, someone comes into your office with a paper saying that they have a decreased risk of Condition Y.  Do you tell them to stop doing screening?  Skip their annual physical?  Start smoking cigarettes?  Noooo.  Because you know perfectly well that SOMEONE with exactly this genotype is going to get Condition Y, and you don’t want to be responsible if it turns out to be THIS GUY (see Paragraph 2 on the challenges of prognostication).

We are forgetting the medical equivalent of Moore’s Law: that visits to the doctor result inevitably in EXPONENTIALLY MORE VISITS TO THE DOCTOR.  Call it Dr. Moore’s Law: Medical Care Generates Additional Medical Care at a Rate that is Exponential.

Now, please, don’t get me wrong.  I realize that, at times, personalized medicine is going to save us money.  Pharmacogenetics improving the use of medication will save time, money, and lives.  Preventing certain forms of chronic disease like diabetes, if we find a way to intervene for those most at risk, will save a fortune.  But right now, the savings are much more speculative than the costs.  A reflexive adherence to the dogma that personalized medicine saves money creates a hype that can only lead to disappointment.  Making medicine better is a huge goal: making medicine solvent is too much to ask of any fledgling field.  Feeding the hype is tempting, because it generates the sort of excitement that brings in attention and funding.  But ultimately, propagating a dogma that generates unrealistic expectations will snatch defeat from the jaws of victory, as our real-life success stories are weighed against the myths of our own making.

*Gratuitous Kant reference.  Philosophy students: please enjoy.

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by | August 11, 2011 · 12:08 PM

Genetic Counseling and the Disability Community: A Cautionary Tale

A commentary by Anne Madeo, Barbara Biesecker, Campbell Brasington, Lori Erby and Kathryn Peters in the August issue of the American Journal of Medical Genetics (The Relationship Between the Genetic Counseling Profession and the Disability Community) is going to raise some hackles because it takes on the most sacred cow in genetic counseling: the belief, bordering on dogma, that genetic counselors are good.  Not just good as in the absence of bad, or good like ice cream and lazy Sundays, but good in the dare-I-say religious sense.  Good-doing.  Doers of good.  Beyond well-intentioned, because well-intentioned suggests that one might do the wrong thing by accident.  Genetic counselors are trained good-doers, there to protect and rescue patients from the less finely calibrated ministrations of other medical professionals, particularly doctors.

The perfidy of doctors is sometimes a corollary to the gospel of genetic counseling, in which it is stated that genetic counselors do good.

But I digress.  And while I am digressing, let me hasten to add that I think genetic counselors are as nice as group of people as I have ever known.  And I am not just saying that because I don’t want to get nasty looks at the next NSGC conference; I mean it.  Genetic counselors are as a rule neither cynical nor uncaring, and I have found them to be absolutely dedicated to doing right by their patients.

But you can’t do right by all people all of the time, not if you believe that doing right means supporting them in whatever they decide.  You can’t.  Let’s say a woman carrying a fetus with Down Syndrome arrives in your office.  So now you have a tightrope to walk.  Because if she decides to terminate but has the least degree of uncertainty or guilt, any positive remarks you make about DS kids (They are cute, aren’t they?  And the new research is promising…) is likely to echo in her ears as a reproach.  And if she decides to keep the baby, any negative remark you make about DS kids (They do have a lot of medical issues one should really mention…right?  And lots of people in her shoes would terminate…) is likely to be remembered as proof that the genetics people thought my baby – my baby! – should have been aborted.

Genetic counseling – if it was easy, everybody would do it.  Madeo and company don’t attack genetic counselors, nor do they underestimate the complex balancing act involved in this counseling scenario.  They do suggest that the few available studies suggest that counselors and the NSGC have been more involved with protecting women’s rights to terminate and reassuring those that do, rather than protecting the rights and interests of persons with disabilities.  Of course, this is in part because it is abortion rights that have been under siege.  They quote Arthur Caplan from 2009, advocating activism in a phrase that syntactically ties the anti-abortion movement with Naziism:  “If counselors do not speak up on behalf of their clients, who will?”  True, the authors say, and yet, they suggest– is it hard to understand that many parents of children with DS feel their babies are under siege as well?  There aren’t as many as there used to be.  They call that threatening.  We call it success (yes we do.  Be honest.  Improving our prenatal screening is not about giving parents the chance to know in advance that they are having a kid with DS.  And if it was, insurance wouldn’t pay for it).  So they would like to balance the equation. “If counselors do not also speak up on behalf of clients who choose not to terminate a pregnancy, then who will?” the authors ask of us.  “If counselors do not also speak up on behalf of clients with disabilities, then who will?

A response by the NSGC for the most part focuses on rebutting the charges that either the organization or its members fails to recognize its special obligation to those affected by genetic syndromes and genetic disease.  NSGC President Karin Dent does an admirable job detailing the position statements, collaborations, educational outreach efforts that document our commitment to people with disabilities.  We are trying, the thing says!  We do so much!  But there is something about this primarily defensive posture that denies the essence of the problem.  Defensiveness is our Achilles heel.  “I’m just a soul whose intentions are good” sings Bob Resta in his accompanying commentary, “Oh Lord, please don’t let me be misunderstood.”

As Resta correctly suggests, defensiveness over the issue of whether or not we are fair may be leading us to miss the central issue of this drama: DS births aren’t just going down, they are going down selectively.  Some communities and demographics have better access to screening and intervention; others are more willing to use them.  This is true of DS today, as it will be true of many other screening programs in the future.  The very things that in our lifetimes have been the sort of thing that can happen to anyone (there but for the grace of god go I…) are becoming the sort of thing that only happen to “some people.”

“Imagine yourself in our shoes,” writes Patricia Bauer, the mother of a girl with DS, “as the question hangs in the air at neighborhood gatherings, at the park, at the supermarket. ‘‘Didn’t you have the test?’’ someone asks, eyeing our child’s face with a raised eyebrow that seems to betray surprise, curiosity, disapproval…. If you had been a responsible parent, they seem to say, wouldn’t you have exercised your legal right to abort…”

Lurking in her words is a sociological issue of enormous proportions, one where we may exercise our board-certified ability to do good, if we can stop making the issue all about us.

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by | March 30, 2011 · 11:52 AM

Understanding What’s Difficult about ‘Understanding a Down Syndrome Diagnosis’

Recently, members of the NSGC received a booklet called Understanding a Down Syndrome Diagnosis, full of lovely pictures of children with Down syndrome and their families, accompanied by a factual but largely positive text (…“According to some studies, siblings of children with Down syndrome tend to be more compassionate and well-adjusted than their peers.”).  Though clearly intended to be both inoffensive and non-polemical, the guide provoked a debate on the NSGC list serve that was vintage genetic counselor, by which I mean that it was sincere, well-intentioned, polite and juiced by the belief that in doing the right thing in the right way, counselors could protect their patients from unnecessary emotional distress.

 The basic argument was this: was this booklet a useful tool for couples who had not yet decided what to do after a prenatal diagnosis of Down syndrome, or did it paint such a rosy picture that it might make those who went on to choose termination feel judged?  Assuming we are all striving to be neutral, what is neutral?  Does it mean actively reaching out to present alternatives in a positive light and to counterbalance negative stereotypes, or is it more a matter of trying to intuit where the family is emotionally, and supporting that decision?  Is non-directiveness literally NON-directiveness, or is it perhaps closer to ALL-directiveness; is there a responsibility to establish that all possible options are legitimate and acceptable?

 Of course, as has been mentioned before, our baseline for “neutral” must take into account that we start this discussion in a hole: the fact that termination is on the table in the first place is, like it or not, something of a statement of where we stand on Down syndrome.  I think this is a reality that a lot of people in the field don’t see or don’t acknowledge, and which is self-evident to patients.  We are so wounded, as a group, by any suggestion that genetic counselors (of all people!) could harbor ill intentions toward individuals with Down syndrome.  We are improbably surprised when people make this connection.  I know a lot of you work with these families and adore these children and all that, but, you know, face facts, WE DO.  I mean, we (individually) DON’T, but we (collectively) DO.  Geneticists run studies to improve on the prenatal detection of Down syndrome.  Why do we do that?  To improve prenatal care?  Please.

 A friend of mine whose first four children were boys was talking to me once about the post-amnio results conversation she had with her genetic counselor for pregnancy number five.  She was offered the chance to find out the baby’s gender (she declined).  Everybody, including her neighbors, and her family, and the guy who worked at the ice cream truck, and certainly her genetic counselor, all knew that this woman was hoping and praying for a girl.  But had her counselor told her that the fetus was a boy, she would not have followed up that unwelcome piece of information with anxious questions about whether or not my friend would like to come in and discuss her options.  We test for Down syndrome in order to give the option of termination.  That is an essential truth.  Everything else is window-dressing.

 In fact, the discussion over this booklet raises a very fundamental question about whether or not our ideal of giving out information in a fashion that is both supportive and neutral is attainable.  Let’s be brutally realistic.  Parents of children with Down syndrome know that being given the choice to terminate is a commentary on how other people view their children with Down syndrome.   They know this because it is true.  And any image or anecdote or statistic showing how individuals with Down syndrome are beloved by their family members is bound to feel like a reproach to couples who decide to terminate.  You can certainly say these things with more sensitivity or less sensitivity, but they mean what they mean.  No amount of searching for the best language is going to change that.

 Well, for my own peace of mind I probably prefer to say some nice things about the joys of raising a child with Down syndrome, and give out this pretty booklet – after all, I am really – just like the rest of you – not against children of any sort, however abled.  But at the risk of ruffling even more genetic counselor feathers, I would like to wonder out loud whether this is mainly a benefit for me, as opposed to the family in question.  I think it comes down to this: how likely is it that a family’s decision will depend on their perception of what the genetic counselor thinks is a good idea?  Do we really have that much influence?  I kind of doubt it.  We may be able to affect how the couple feels about that decision to some small degree — to make them feel better (or worse).  We can certainly influence whether or not they look back on their experience with genetic counseling and think kindly of us.  But a couple has to be truly on the fence if the intervention of a third party who is a transient if well-informed presence in their lives is the actual deciding factor in how they feel about raising a child with disabilities. 

 So if we are only impacting how they feel about the decision and not the decision itself, is it necessary or even advisable to introduce information we think is important, and should we stick to giving them only whatever information they specifically request?  And if we want to demonstrate our bona fides about supporting families who choose to raise children with Down syndrome, perhaps we should think about creative and public ways to do just that, and not rely on the old idea that our personal neutrality in the confines of the counseling session is going to achieve the dual goal of enabling a family’s right to choose, and demonstrating our  respect and humanity for persons with genetic disabilities.

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by | November 2, 2010 · 8:53 PM

There’s a Gene for Everything, Right?

Ten years after the completion of the Human Genome Project, our field is still debating genotype-phenotype correlations in single gene diseases, while the media is still searching for – and finding! – Gattacca.

This week, the Washington Post ran an article that asked “Is There a Gene For Liberals?”  Actually, only the headline and the first sentence asked that question.  The article itself dismissed the idea in line two: “Is there a gene for liberals?  Well, not quite, but scientists say they have found the first evidence that a gene can play a role in shaping an individual’s political leanings.” The piece goes on to detail a joint UC San Diego and Harvard longitudinal study showing that a single gene variant in combination with an active social life in high school (not junior high, not college, only high school) is associated with a modest increase in liberal political beliefs.  No relationship is seen except when the two are taken in tandem.

As Cher says in Clueless, the wounds of adolescence can take years to heal.

The writer calls this finding provocative, which I assume is a reference to the idea that this could be seen as genes dictating behavior, which hints at the scary thought shadowing all suggestions of biological determinism – the idea that we don’t have free will.  Perhaps liberal university professors and right wing radio Svengalis only channel us into the deeper ideological slavery into which we all are born.  Or not.

The rest of the article reports faithfully on the authors insistence that this “doesn’t mean a gene was found for anything,” and the relationship between the gene and the behavior cannot be seen as causal, but merely a window into how genes and experience interact to influence behavior.  This is explained in four careful paragraphs, at the end of which the writer says, of the authors’ call for further research, “Who knows, that could eventually lead to the discovery of a gene that plays a role in creating conservatives.”  So, lesson learned.

Here are two things the article does not define or question:

  1. What constitutes being “liberal.”
  2. What constitutes having “an active social life.”

In fact, going to the article Friendships Moderate an Association between a Dopamine Gene Variant and Political  Ideology in the Journal of Politics, the answers are as follows:

  • A person is liberal if they describe themselves as liberal, having been given a choice of liberal, moderate or conservative.  (This seems straightforward enough, although almost all my friends would, given this choice, describe themselves as liberal but there is enough difference of opinion between them to set a barn on fire.)
  • Having an active social life is defined by the number of people the respondents describe as friends, when allowed to pick any number between none and ten.  (I always thought that in high school the phrase “active social life” was code for who did and who did not get drunk on weekends.  I am discouraged to discover this new standard, which seems to suggest that I did not have as much fun in high school as I thought I did.)

Based on this irrefutable data (by which I mean bullsh*t), the results are calculated using a nifty looking formula of which I will reproduce only the first line:

gij = b0 + bbbi + bwwij + bEEij + bwEEijwij

I haven’t defined the parameters for you or completed the equation but perhaps this gives you the idea that while the data may be soft, the math is very very hard, especially for those of us who spent most of high school calculus sleeping off an active social life.

And of course, as always, the real educational effect of the article is to be found in the comments section, the essence of which is summarized in these two pithy remarks:

So now we can truthfully say that liberals are mutants? I suspected as much.

and

I think we already know the gene that makes conservatives…the poop gene.

Sigh.  I grow weary.  Everything we have learned in the past ten years suggests that genetics are far less deterministic than we had anticipated, and that both physiologically and psychologically we reflect a wondrously complex mix of genetics, epigenetics, environment, dumb luck and who knows whatever other factors – I myself am waiting to find out that astrology has a grain of truth after all, and that all these years I should have been reading my horoscope regularly, and not just when I got stuck on the tarmac with a two hour delay and nothing to read but an abandoned copy of Star magazine.

In the meantime, I beg you, journalists of the world, stop writing headlines that say, “Did Scientists Discover a Gene For X?” if the answer is NO.  You don’t write headlines that say, “Did Police Discover a Plot to Put Rat Poison in School Lunches?” if the answer is NO, just to get more people to read your article on improving the quality of meat.  I know you are busy and underpaid and everyone keeps threatening to take your job away and replace you with a blogger, but try to remember this: people only read the headline.  And this: genetics is complicated.

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by | July 16, 2010 · 9:01 AM

The Abortion Provider Gets a Makeover

It’s Great For the Cause But How Will It Affect Our Patients?

 

This weekend, The New York Times Sunday Magazine will feature a story on “The New Abortion Providers,” suggesting a major step forward in abortion rights – new training opportunities that are increasing the number of abortion providers, and moving the practice of abortion out of stand-alone clinics and into traditional medical settings like doctors’ offices and hospitals. While clinics provide low cost services and doctors with experience, they are also targets for demonstrations and violence, and the parallel world of clinics has helped push abortion out of the medical mainstream, increasing stigma, and decreasing access for women in rural and conservative areas.

So this is a win for pro-choice advocates. A very good story – but a good story that encapsulates a cautionary tale. One thing that leaped out at me reading the article was the emphasis on early abortion not just as a public health benefit (which it is, of course) but as a counterbalance to the success of the ongoing way on abortion rights. The author puts it this way:

“It has long been an abortion-rights selling point that almost 90 percent of the abortions in the U.S. are performed before 12 weeks; in addition, four years ago, the proportion of procedures performed before 9 weeks reached 62 percent. The statistic points to a paradox: Anti-abortion advocates succeeded in focusing the country’s attention on graphic descriptions and bans of late-term abortion even as more and more women were ending their pregnancies earlier and earlier.”

In the article, one of the two doctors profiled at length will not perform abortions after nine weeks gestation in consideration of the feelings of her staff. She mentions elsewhere that her own comfort level is 14 weeks – beyond that she would not feel medically or personally prepared to proceed. Training programs are described as taking similar measures to restrict the gestational age in order to make abortions more acceptable to their students.

Abortions aren’t a happy topic. Early is better than late – and not just for PR reasons. Medically, psychologically and (I am going to go ahead and say the word) morally, every day of gestation that passes makes abortion more of a challenge. Pro-choice activists who deny the essential logic of this argument by relying on the Roe framework of viability or the simple logic of it-isn’t-a-person-before-birth risk making themselves irrelevant to the discussion, because anyone looking with their eyes and their heart open can see the difference between an eight-week fetus and an eighteen-week fetus – those on both sides who deny this are willfully ignoring what a child would know.

However, early abortion won’t cover women who terminate for cause as we all know. The catch-22 of late abortion is that while it is the least defensible, it affects disproportionately more of those we would like to defend – not just our patients, but other vulnerable individuals such as the newly diagnosed cancer patient, the very young, the developmentally delayed and the mentally ill. If it weren’t for them would it be so hard to draw a line in the sand earlier on?

So as a genetic counselor, I was slightly concerned to find that these complexities were nowhere reflected in this generally well-written and positive article. I almost felt like the author was offering this as the new face of abortion: younger, less ideological, mainstream literally and figuratively, sanitized. It’s a very attractive proposition, but I wonder if it will then fall to people like us to champion the difficult cases, and the grizzled or fervent individuals willing to take them on.

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by | June 1, 2010 · 3:33 PM

In Baseball as in Life, You Never Know

Sometimes the experts get it wrong. Just ask R. A. Dickey.

In 1996, Dickey was a first round pick of the Texas Rangers, with a signing bonus of $810,000 on the table. At 21, he was on the cover of Baseball America along with four other pitchers for the U.S. Olympic baseball team. It was a dream come true for an All-American boy from Tennessee.

Be careful what you wish for, kids!

R.A. Dickey, second from the left

The cover photo was seen by an orthopedist, who noticed something strange about the elbow of the young right hander. Alerted by the doctor, the Texas Rangers insisted on a medical exam. What they found stunned everyone: Dickey had no right ulnar collateral ligament. None. The main stabilizing force in the young man’s elbow simply didn’t exist. “The doctors said I shouldn’t have been able to turn a doorknob without feeling pain,” said Dickey. His ability to throw a pitch was a medical mystery.

Faster than you can say MRI, the $810,000 dollar offer was gone. The Rangers, convinced that he would never survive in the major leagues, reduced their offer to a consolation prize of $75,000. Dickey took the money, and proceeded on to the minor leagues where he pitched without pain, eventually switching to a knuckleball, which is to say that he is an enigma who tosses an enigma. On Wednesday May 19th, fourteen years after that magazine cover changed his life, Dickey took the mound for the N.Y. Mets (6 innings; 5 hits; 2 runs; no decision in a NY loss – not his fault. The Mets are a work in progress.).

Here’s my point: everything about Dickey’s career has confounded the experts. The baseball gurus said he would be a star; instead, he has been a journeyman pitcher, moving from club to club to find a job. The medical experts said he couldn’t possibly pitch; last year he played in 35 games for the Minnesota Twins. His first game with the Mets featured an inside the park homerun and a triple play, and still the strangest thing about the evening was R.A. Dickey, pitching in the major leagues at age 35.

As a genetic counselor, I thought a lot about his elbow watching that game (and as a Mets fan, believe me, it was a welcome distraction). How could all the medical experts be so wrong? At least in part, it’s because of that ascertainment issue: their experience was based on people who came to medical attention because they had pain. As a rule, we don’t test people without pain for missing elbow ligaments. Perhaps there are more R.A. Dickeys out there with no ulnar collateral ligaments, living their lives in ligament-less obscurity. We would never know.

But what if we did know? What if we knew when R.A. was 18, or 8, or 8 months old? What if we knew before he was born? That is the thing about making predictions; the only sure thing is that some of the time you will be wrong. “I’m sorry, Mr. and Mrs. Dickey,” we would say. “I understand that you love baseball, but the hard truth is that your son will never throw a ball or swing a bat. I know you may not be ready to hear this quite yet, but many of our parents report that their children very much enjoy soccer.”

OK, so it wouldn’t have been the end of the world. R.A. Dickey and I both know that baseball breaks your heart anyway, more often than not (shut up, Yankee fans). But it is a good story to remember, for those of us in the prediction-making racket. How many of you have seen patients that confound medical expectations? Perhaps you will share some of those stories here. It all goes to show you: sometimes you’re right, sometimes you’re wrong, and every once in a while, life throws you a knuckleball.

Lets Go Mets!

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by | March 31, 2010 · 9:37 AM

Sweet!! The Judge Rules on the Myriad Patent Case

On Monday, Judge Robert Sweet of the Federal District Court in Southern New York shocked the world by ruling against Myriad Genetics, invalidating claims with regard to patents on BRCA 1 and 2.  This morning, the genetic counselors, oncologists, patients and their families as well as other interested parties like patent lawyers and venture capitalists are wondering: what does it mean, really?

 The ACLU and other parties sued Myriad in 2009, claiming their patents interfered with medical care for families concerned about hereditary breast and ovarian cancer by stifling innovation that might lead to better tests and denying them access to an alternate lab to double check or compare results.  In addition, the lawsuit challenged the idea of gene patenting, suggesting that DNA sequences were a part of nature and that they were discovered rather than invented, and therefore were not in their essence eligible for patenting.  For their part, Myriad maintained that the patent covered not DNA as it appeared in nature, but the isolated gene product that was tested in the laboratory.  This is concept – that purified or isolated DNA is effectively a chemical made by man — underlies many, many patents granted over the past 20 years or so, and Myriad was widely expected to win the case easily.

 But they did not.  Not to get too carried away – the case will be appealed and all the same experts who predicted that it would be dismissed are now predicting that it will be overturned.  But were it to stand, would it change the facts on the ground for consumers of BRCA 1 and 2 testing?  The short answer is, probably not.  The ruling struck down parts of 7 patents relating to BRCA testing; Myriad holds an additional 16 patents on BRCA testing (this might shed some light on the bewildering fact that there are over 40,000 patents on human genes, meaning that gene patents outnumber genes by a factor of nearly two to one).

 Still, the ruling is likely to have a profound effect long term, as it puts industry and investors on notice that the law surrounding patent protection of genes and gene tests is far from settled.  One question that has been debated since the beginning of this lawsuit is whether or not patents on gene sequence (or their moral equivalent, patents on cDNA sequence, which the judge correctly identified as being different only in a petty and legalistic sense) promote or interfere with development of diagnostics, treatments, or cures for genetic disease.

 This is really the million dollar question.  Promoting innovation is the point of patents; it is the sine qua non of the whole patent deal.  It is tempting, but fatally wrong, to think of patenting as a system of social justice, ensuring that the deserving individuals receive the benefits of their labor and/or inspiration.  This is lovely, but false. A patent is not a right, like free speech or pursuit of happiness.  An individual or a corporation has no right to demand that the government throw its weight behind protecting their intellectual property.  Without a patent, they can protect their intellectual property simply by keeping it secret, like the formula for Coke.  In fact, one part of the deal when you get a patent is that you agree to make the information public.  This, in addition to making new ideas lucrative, is how patents are designed to promote innovation.  In this way, it is reasoned, we are spared the wasted energy of reinventing the wheel, and can go on to the society-enhancing process of improving our brakes, or our steering, or our floor mats.  (Are you listening, Toyota?)

 This ruling (maybe temporarily) invalidates sequence as the point at which a patent can be applied, a standard that might then be considered in other patent cases (or it might not.  Judge Sweet’s decision sets a precedent, but it doesn’t change any laws).  It leaves the door open for patents to be acquired for subsequent steps, such as testing methods or diagnostic algorithms (think Mammoprint).  The hope of many who argue against patents on sequence is that by eliminating the obstacle of a patent at this early stage, it will allow for more open and vigorous research to continue after the gene discovery phase, leading to more success in the development of diagnostics and treatments.  Which is, after all, what the whole thing is supposed to be about.

 For many years, the research system was divided, roughly, into basic science, which was generally funded by government or philanthropic sources and generally took place in academic settings, and commercial applications, which were generally funded by industry with a profit motive.  In 1980, Congress passed the Bayh-Dole Act, which actively encouraged universities to pursue patents and academic-industry partnerships, so that more of the government investment in science might be translated into advancements available to consumers.  As hoped, the number of patents resulting from NIH-backed science soared.  Bayh-Dole was very successful in promoting commercial use of scientific research; at the same time, it broke down the imaginary wall between academia and commercial interests, with consequences for everything from collegial information sharing to the dynamics of peer review that we are still sorting out today.  For example, it used to be a given that patents were not enforced in research settings.  Today, however, academics are routinely vested in companies, while companies often fund joint ventures with universities.  Companies are less inclined to wink at patent infringement in research when they see Washington University or UCSF as proxies for Monsanto or Genentech.

 But theoretically, a changing patent landscape could shift genetic research back in the direction of earlier models, with basic gene identification done mainly in academic settings using NIH or other public funding.  Detractors say that academic curiosity alone cannot drive discovery at the same pace as the dangling of dollar signs; others point to examples where research has been robust even without the financial inducement of an exclusive, patent-protected, market edge.  I am inclined to believe that intellectual curiosity and the desire to discover can do great things among the science-minded, but then, hell, I have always been a crazy optimist.  I mean, against all the odds in the world, I thought we could pass health care reform just because it was the right thing to do.

 Crazy, right?

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by | February 16, 2010 · 4:33 PM

Glenn Beck Hates Babies: Death Panels, Newborn Screening, Fox News and Me

 “You are from the Glenn Beck Show?” I asked. My voice betrayed what for lack of a nicer word might be called skepticism.

 “The Glenn Beck Show,” she answered, her tone sliding past defensive into a smug I-know-what-you-are-thinking defiance that reminded me wordlessly of Fox News’ Nielsen dominance.  “We were wondering if you would like to come on the air tonight, to discuss newborn screening.  We are interviewing a woman who is suing the state of Minnesota for taking her child’s DNA without parental consent.  We were told you might provide some expertise on the issue.”

A quick succession of questions went through my head.  What was something as routine as newborn screening doing on the Glenn Beck Show?  What expertise were they looking for from me?  I reviewed what I knew on the subject.  Our system — a hodgepodge of opt-in and opt-out, implied consent and presumed consent – state-by-state regulations put in place in a simpler era, when newborn screening meant looking for PKU and a handful of other conditions.  It was not a system designed to handle today’s complex screening panels, and certainly not the use of newborn screening samples for research on genetic disease, birth defects, environmental exposures, chromosome studies and the like.  The topic interested me.  Being on television interested me.  Could I say yes?  Absolutely not, I told myself sternly.  This was Glenn Beck.  Who knew what crazy angle they would take?  There might be shouting.  What if he cried?  What on earth would I do if he cried?

 “Yes,” I said.  “I would be happy to.”

I was in New York, she noted, so I could come in and sit with Glenn in the studio.  With Glenn.  We were on a first name basis now, me and Glen.  Oh dear, I thought – or perhaps it was some other four letter word starting with ”sh”.  I poked around on the internet, searching for a few salient facts.  Minnesota tested for 53 conditions, 24 more than the 29 “core conditions” the ACMG designated top candidates for newborn screening.  The state permitted the use of newborn screening blood spots for research, usually de-identifying the samples first.  If you had a child in Minnesota, his or her DNA might be used to check the incidence of CMV infection, or the feasibility of newborn screening for Wilson’s Disease.  There was a study of mercury exposure.

I barely had time to break into a cold sweat in my closet when the producer from the Glenn Beck Show called back.  “Change of plans,” she said.  “We’re going in a different direction.”  A different direction — I was no longer needed.  They liked some other expert better.  I felt that peculiar pang you feel when people you despise and disdain don’t love you.  It was like junior high school all over again.

 And then I watched the show, which is to say there’s a first time for everything.  They hadn’t booked another expert in place of me (my heart gave a small, involuntary leap).  They had booked instead a state senator from Texas who was so completely insane that he made Glenn look reasonable by comparison.  The government was using newborn screening as an excuse to take DNA from children, the senator said.  That’s right, Glenn agreed.  It was like Nazi Germany, the senator insisted.  It could be, Glenn agreed.  Soon there would be concentration camps for people whose DNA the government found inferior.  Glenn tilted his head, like he couldn’t quite get his brain around that.  Probably not, he said, after a significant pause.

 Now I understood why I had been dis-invited for this crazifest.  They didn’t reject my expertise – they rejected all expertise.  Expertise was problematic in that facts could not be relied upon to support the narrative.  This wasn’t a story about newborn screening; it was a story about  government power encroaching on individual liberties.  The woman from Minnesota, a petulant but mild-mannered soul who had some good points to make about the actual risks of amassing a DNA database without proper consent – a practice confined to newborn babies and convicted felons – but she was left in the dust, unable to take the necessary next step of contextualizing newborn screening in the socialization of the American healthcare system.

 Complex issues are always at risk of being misused by in the service of a simple story that feeds into existing fears and beliefs.  The more complex the issue, the easier it is to cherry-pick facts to provide ersatz credibility.  In recent attacks on newborn screening, the underlying narrative is fear of big government, as illustrated by a CNN story last week titled: “The Government Has Your Baby’s DNA.”  Against all odds, this is actually a decent, balanced article – but if that headline doesn’t make you crazy, try reading the comments, several of which suggest that newborn screening is an invention of the Obama administration or a 21st century incarnation of Big Brother.  Death panels for the Headstart crowd.

 I applaud the spirit of the many genetic counselors who immediately looked to respond to the CNN article (No one said boo about the Glen Beck Show; was I the only one watching?).  Still, I think it is important to look at two key points before formulating any response:

1. Keep in mind the narrative.  Most people cannot be expected to care that much about newborn screening except as it fits into a larger context.  The fact that you are anxious to educate them does not mean that they wish to be educated.  Therefore, if the narrative is about a government power grab (and it is), then it probably won’t help to tell people that HIPPA and GINA will keep their babies safe.  I’m guessing that they will not take comfort in knowing that Washington has created two new acronyms to safeguard their children’s DNA. 

Ignoring the narrative is one big reason why the well-intentioned and well-informed have spent years dumbfounded by the intransigence of parents who continue to believe that vaccines do not cause autism.  I know it is hard to accept, but it just doesn’t help to offer someone the gold standard of peer-reviewed science when their meta-narrative is about how the medical establishment has been corrupted by for-profit entities.

 You can’t tell people whose fundamental issue is that they don’t trust the government that they don’t have to worry because the government will take care of anything.  What other options do we have?  Let’s try to remember that this is not about government rights; it is about baby’s rights.  The message has to be that every baby has a RIGHT to newborn screening.  We can’t get sidetracked into defending the will of the government to defend privacy and autonomy.

2. The narrative doesn’t just obscure the facts from those who believe it; it obscures the facts from those who despise it.  Let’s not lose track of all the valid concerns that have been raised by parents who object to a lack of education and consent in the use of newborn screening samples.  As much as we would like to insure parents that a database of blood samples would never be misused, it’s a fool’s business making promises.  The only sure thing about predictions is that some of them will be wrong.  No one anticipated the development of an algorithim that could match DNA samples to individuals within pooled DNA in GWAS, which sent government agencies scrambling to rewrite the rules for use of supposedly anonymous DNA registries.  No one anticipated that a teenage British boy conceived by sperm donation would be able to use ancestry testing designed for genealogy buffs combined with a few rudimentary facts like date of birth to find his donor dad.

 All other innovations in genetic services require vigilance and thoughtfulness.  But it is worth the effort, because every baby has a right to newborn screening.  We can’t sacrifice the possible to the paranoid, because that would be shortchanging America’s children.  That’s what I would have told Glenn Beck.  I might even have cried.

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by | February 2, 2010 · 9:57 AM

“Just Say No” Doesn’t Work in Genetics Either

As Bob Resta’s post here on the DNA Exchange ably illustrates, genetic counselors have lots of reasons to take an interest in the Counsyl Universal Genetic Test.  Is it being oversold?  Probably – here are a couple of reasons why Universal is not universal:

  1. The company cites a high accuracy rate for detection of mutations – but of course they only mean the detection of mutations on the panel, which means it gets many but not all – this distinction would likely be lost on the average consumer.  And in the same vein, accuracy does not measure how many of these very rare mutations may be non-penetrant or benign.  It is hard to tell how often we will be suggesting unnecessary intervention, including extreme measures like PGD.
  2. People might understandably assume that “universal” means ALL diseases, rather than  a subset of rare diseases with a recessive etiology.  The specifics are there in the fine print but I’m just saying…

I imagine many counselors are leery of the Counsyl test because they suspect the people for whom expectations exceed performance will land in their laps, angry and frustrated.  This must be something akin to how the sanitation department feels about tickertape parades.

Then again, the Counsyl test has a lot to like:

  1. Great value.  The test offers information on 100 diseases for the same cost as we often see for information on one or two diseases.
  2. Accessibility.  A DTC test enables people who live far from any purveyors of genetic services.  Sometimes the question is not is this the best way? but is this better than nothing?
  3. Focus on rare diseases.  These are the orphan diseases – the ones that can’t get any attention unless Susan Sarandon or Harrison Ford make a movie.  This test may expand our ability to reduce the number of families who have tragic outcomes.  The Times cites critics as saying this is a step toward designer babies but if this is some exercise in vanity than so is EVERYTHING WE DO.  Seriously.

Saving babies, cost, accuracy, uncertainty – these are issues we have seen before, balances to be struck.  In fact, we make these decisions all the time.  What is really new about the Counsyl test is not the questions we must answer but the fact that no one is asking – it is not up to us!  Although genetic counselors have always prided themselves on allowing patients to make decisions, they have always been in control of the flow of information – of how much information was necessary to make a responsible decision.  Of what information was extraneous, and what information potentially dangerous.

Naturally our response to innovations like the Counsyl test is to debate whether or not the information in it is more likely to help or to harm our patients – just what I was doing when I made my list above.  It’s not a bad thing do, and I welcome comments on my Reader’s Digest version of the pros and cons, because counselors out there have a lot to add on that debate.

But we can’t universally confine our response to trying to weigh in on whether or not it is a good idea to allow the information to get out there unimpeded.  Why?  For one thing, it is a waste of time.  Trying to impede the flow of information in the 21st Century is a pastime for Luddites.  Harping on it will make us about as relevant as Amish fashion critics.  Sure – everyone does look good in black, but people are going to be wearing fuschia and even mauve.  It’s a fact of life.  I like clothes with zippers.  There are those moments when button-fly jeans are just too slow.  You know what I’m talking about.

Plus, reflexively, we should be for and not against the free flow of information.  This is America – land of the free, not land of the carefully vetted.  The nature of information is that it is confusing as well as enabling, and an excess of it does not diminish the importance of expertise – it creates an opportunity for expertise.  Let people get information and they will come looking for clarity.  Liz Kearney, the new president of the NSGC, has written persuasively about the need to establish an NSGC “brand.” She’s right.  We need a brand, and we need our brand to stand for credibility, clarity and unbiased scientific accuracy – something that will stand apart from all the information, accurate and otherwise, that comes from people who have something to sell, like the Counsyl Universal Genetic Test.

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by | January 13, 2010 · 8:03 AM

Intellectual Climate Change: Can we Survive the Rising Sea of Data in the 21st Century?

Happy New Year!  It’s a whole new decade – time for some summing up, and some looking forward.

If I had to pick a defining image of the last ten years, it would be a tidal wave – a wave as big as the wall of water that drowned New Orleans, as big as the Christmas Day tsunami of 2004 – a flood not of water but of information that has broken over our collective shores.  Google search “information overload” and Wikipedia (result number 1 of 3,060,000) defines it as a condition resulting from the near instantaneous access to too much information, “without knowing the validity of the content or the risk of misinformation.”

The fact that our ability to produce and disseminate information has entirely outstripped our ability to analyze or fact-check is a reality of modern life.  To be sure, genetics is no exception – what with aCGH and the HGP and GWAS and other technology-driven acronyms spewing out data on the one hand, and the Internet on the other, where PLoS shares server time with the Discovery Institute, generator of creationism repackaged to resemble scientific research.

We might be forgiven for thinking, some days, that genetics is the ground zero of information overload.  But it’s not.  It’s happening everywhere.  Genetic counselors are often appalled at the giving out of genetic information willy-nilly – witness the response on the genetics community to such unwelcome friends in the sandbox as 23andme or DeCodeme – and the knee-jerk reaction is to say that genetic information is special, uniquely powerful, and must be given out by those with specific education and counseling skills (Hey!  That would be us!).

This type of thinking runs along the lines of genetic exceptionalism – the notion that genetics is fundamentally different than other sort of information and must be treated differently as a result – and while in some ways it may be right, it is also increasingly unrealistic. Yesterday’s PhD thesis work is tomorrow’s home-brew chemistry experiment, and microarrays are changing the economics of testing so that panels that once checked for 8 or 9 conditions now check for 300, while full-genome sequencing lurks around the corner, the paperback version of the HGP, available soon on Amazon.com.

What can we do, not to be the ones with our finger in the dike as the information tsunami rises around us like ocean water lapping at the Maldives?  We can’t cut off the flow of information.  We often call for commercial companies to give out information through genetic counselors, but is that really a solution?  The idea of commercial entities that do it “right” rather than “wrong” is comforting, but self-regulation poses inevitable conflicts of interest.

We may have jobs, perhaps good jobs, from companies that need genetic counselors to explain their products to consumers, but that doesn’t mean that, for genetic counselors as a whole, jobs within industry are a solution to the information overload dilemma.  Drug companies hire doctors to promote their pharmaceuticals, and while there is nothing wrong with working for a drug company, employing physicians is not the functional equivalent of a regulatory framework.

Across all fields from journalism to philanthropy, people are discovering ways to act as the mediator between the flood of information and the end users. The next-generation winners in information management are those who will be able to sift through and shape the available data flow into a manageable and trusted form – information brands.  We need to be consumer reports; we need to be wikipedia; we need to be CNN – we need to be a trusted filter that distinguishes true and false as well as necessary and unnecessary for the consumer of genetic information.  Jobs within industry will flow from that branding – what else do we bring, that a pamphlet or a webpage could not just as effectively communicate? – but they will not create the brand.  What will?  That is the million dollar question.

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