Tag Archives: Laura Hercher

A Review Of “Anybody’s Miracle,” A Novel By Laura Hercher, Genetic Counselor

It’s not everyday that a genetic counselor publishes a novel. In fact, I think that has only happened on one day, with the recent publication of Anybody’s Miracle (Herring River Press) by our genetic counseling colleague Laura Hercher.


Laura is my partner in blogging crime here at The DNA Exchange. One might rightly point my own finger at me and accuse me of a conflict of interest in reviewing a book written by a fellow DNA Ex’er. While this review may amount to a bit of free advertising for Laura, I will not receive a single ha’penny or any other form of compensation from Laura, her publisher, or anybody connected with Laura.

Anybody’s Miracle is about the tangled web we weave once we begin to conceive. The story centers on Robin Hogan, a bright, beautiful Catholic woman whose otherwise wonderful life lacks one thing – children. Unable to conceive naturally, she and her husband suffer through the trials and tribulations of infertility work-ups. After nearly losing her life from ovarian hyperstimulation, she conceives twin boys with the help of IVF, and here the story takes off after a slowish start.  She desperately wishes to conceive another child even though the risks to her health are great. Robin then becomes driven to learn the fate of her frozen embryos, who she thinks of as her children. Robin’s sleuthing  leads to the discovery that one of her embryos resulted in a successful pregnancy for an infertile couple and  she hatches an entirely unethical scheme to learn the couple’s identities. Robin’s becomes obsessed with the child – the daughter she never had! –  and takes to spying on the family and photographing  the girl from a distance.

Just when the going starts to get creepy, the plot twists like a helix when the little girl develops leukemia and requires a bone marrow transplant.  Of course the only compatible donor  turns out to be one of Robin’s twin boys, who is the girl’s genetic brother. Because of poor communication, misconceptions, and Robin’s Hitchcockian obsession with the girl, the two families clash when the girl’s parents not unreasonably believe that Robin will demand they give up their daughter to Robin in exchange for using her son as a bone marrow donor. Lawsuits, meetings with high-profile lawyers who have their own agendas, and media hoopla follow in grand style. The craziness is resolved only with the unwitting help and innocence of a hungry little boy.

Set during the 1990’s and early 2000’s, the story plays out against the major events and trends of that era – the dot.com bust, 9/11, cell phones, homosexuality taking its first tentative steps out of the social closet, and parents obsessed with raising their children as if they were organic vegetables. Perhaps the greatest miracle of all – the breaking of the Curse of the Bambino by the  2004 Boston Red Sox – plays a critical symbolic role. The novel explores  several themes near and dear to the hearts of genetic counselors – the conflicts that arise when parenthood is defined by genetic, social, and gestational criteria; the moral and social status of embryos; and how the often deep and profound childbearing urge will push some people to great personal and ethical extremes.

The book is an easy and enjoyable read, and the pacing, though occasionally uneven, will keep you wanting to know what happens next. I thought the ending wrapped things up a bit too neatly and happily. I was also hoping for a larger role for a genetic counselor character (genetic counseling is mentioned very briefly  when an “offstage” GC make what I would describe a bad professional judgment call), but that does not detract from the novel. Anybody’s Miracle arrives just in time for a good summer read for genetic counselors. Maybe if you bring it to the AEC in Anaheim in October, you can get Laura to autograph your copy.

The closest similar achievement by a genetic counselor that I know of was by Anna Phelan, a former genetic counselor who wrote the script for Mask, the 1985 Peter Bogdonavich movie that starred Cher and was based on the life of Rocky Dennis, a young man with craniodiaphyseal dypslasia. Anna went on to contribute to  Gorillas in the Mist,  Girl, Interrupted and other films. There are a number of creative talents in the genetic counseling community – Jon Weil’s intriguing pottery, the photography of  Jean Pfotenhauer and Liane Abrams, to name just a few . Use the Comments section below to tell us of the creative skills of other genetic counselors so we can celebrate the talents of all of our colleagues.


Filed under Robert Resta

GENETICS and The Year in Review: My Top Ten Stories of 2012

In casual conversation, the phrase “it’s genetic” can mean any number of things.  It can serve as an excuse (‘don’t blame me, blame my parents!’) or a humblebrag (‘it’s a gift; I take no credit.’).   But most often, when people say “it’s genetic,” what they imply is: ‘that’s the way it is and there is nothing to be done about it.’

One promise of the Human Genome Project was to give us the means to fight back against this inevitability of genes, through prevention, mitigation and cure.  The first ten years post-HGP were full of revelation and technical achievement, and yet fell far short of that goal: for all that we learned, the lives of patients with genetic disease were essentially unchanged.  Now, news on a multitude of fronts brings the tantalizing prospect of progress.  Will we remember 2012 as the year when genetics fundamentally changed clinical medicine?  Probably not.  But the signs are there: treatments popping up like crocuses in the snow, new tests making their way from research only into the clinical realm, beta versions of technology that can — and will — do better.  And the other signs too: a growing intransigence from those who fear where these changes will take us, and a popular interest in testing that often takes the form of overestimating the scope and specificity of what genetics can tell us.  Progress – and pushback – is the story of 2012.


In Cell, Stanford Professor Michael Snyder published a study with an n of 1 that, despite its limitations, effectively captured the yin and the yang of personalized medicine.  The ”n” in this case was Dr. Snyder himself, who followed himself over a 14-month period using “genomic, transcriptomic, proteomic, metabolomic, and autoantibody profiles” – a staggering array of tests, with an equally staggering price tag. Long story short, Dr. Snyder’s genomic information suggested an increased risk for type II diabetes, so despite the absence of any family history or other risk factors, the medical profile was expanded to include a state of the art glucose test.  And in fact, following a viral infection,  Dr. Snyder’s blood sugar did rise.  Diagnosed with IDDM, the doctor’s blood sugar levels normalized after several months with changes in diet and exercise.  What didn’t normalize?  His life insurance premiums, which rose precipitously after the diagnosis was made.

What is wonderful about this story?  Dr. Snyder – who, it should be said, is a co-founder of company producing interpretive tools for genome studies – says the study saved him from months of damage, and may have saved his life.  Of course, you don’t really know, which is the thing about anecdotal reports.  Consider that, in a sense, all of medicine up until now could be viewed as one giant study with a massive ascertainment bias – after all, most of what we know about treatment comes from sick people.  Does it make sense that early and focused intervention worked?  Yes, it does.  Do we know that cutting out desserts and doubling down on his bike riding actually “cured” him?  No, we don’t.  Because this sort of testing is unprecedented, I’m not sure we know if transient changes in glucose levels are so abnormal following a virus.  Is this what risk means in the context of skinny guys with no family history?  Because in the context of obesity and family history, I am not convinced that cutting out pie is a game-changer.

But despite all the questions that remain, the Snyder study demonstrated proof in principle that the combined power of clinical measures and genomics – genes and gene expression – creates more value than either of these two alone.  And unfortunately it also demonstrates proof in principle that personalized medicine approaches are, at present, prohibitively expensive.  Bringing down the cost of sequencing is only a first step – it will take across the board reductions in the cost of testing, analysis and follow-up medical care if personalized medicine is not to be a niche service for the fabulously wealthy (and a few lucky academics with funding from NIH!).


In February of 2012, former Pennsylvania senator Rick Santorum went on the CBS News show Face the Nation and argued that employers who disapproved of prenatal diagnosis should not be compelled to pay for insurance policies that cover, say, amniocentesis.  An incremental extension of the argument against mandating insurance coverage for birth control which had become a hot button issue on the campaign trail, Santorum explained his opposition thusly: “Amniocentesis does, in fact, result more often than not in this country in abortion.”  Santorum, undeterred by the (modest) firestorm that greeted his results, doubled down on this position in a speech to the Christian Alliance: “One of the mandates is they require free prenatal testing in every insurance policy in America.  Why? Because it saves money in health care. Why? Because free prenatal testing ends up in more abortions and therefore less care that has to be done, because we cull the ranks of the disabled in our society.”

Okay, sure – it was silly season (aka, the Republican presidential primaries.  Remember Herman Cain?  Newt Gingrich and Ellis the Elephant?).  You might be inclined to dismiss this attack on prenatal diagnosis as nonsense.  Santorum certainly encourages us in our spirit of dismissiveness by getting his facts wrong – obviously MOST amnios don’t result in abortion.  Most amnios result in a reassuringly normal result.

But you know and I know that wasn’t what he meant.  Santorum is the father of a 4-year old with trisomy 18 (note to all

Photo credit: People.com

Photo credit: People.com

genetic counselors: yes, I agree with you; she probably is mosaic.  But I don’t know and neither do you.  So please stop asking).  He is a hero to a not inconsiderable segment of the population.  And his sentiments are not an anomaly.  And I am willing to bet that Santorum’s stand is not some last vestige of an outdated and ill-informed resistance to genetic medicine, but an early sign of the sort of intransigent hostility that advances in prenatal testing will engender.  The Obamacare requirement that insurance plans pay for amniocentesis is, Santorum said, “another hidden message as to what President Obama thinks of those who are less able.” Many people – real people, not caricatures, not Republican primary candidates – are worried about how genetic technology will be used, and what those choices say about how the world sees them.  Their fears will grow as our capabilities improve.  In focusing only on what Santorum got wrong, we risk ignoring the more significant subtext.  There are questions here that deserve a real response, minus the snark.  Genetics professionals need to be prepared to define themselves, or risk being defined by someone else.


For years, discussion of the Archon X Prize for DNA sequencing has dominated sports-radio coverage of competitive genetics.  But this year, the annual handicapping of the Archon race (to sequence 100 genomes in 30 days or less, at a per-genome recurring cost of $1000 or less, to be decided once and for all in September 2013 and I don’t know about you but I am SO OVER IT) had to share the geek sports fan base with a new event: the Clarity Challenge.  In January 2012, Boston Children’s Hospital invited researchers around the world to analyze the DNA sequence data from 3 children with unknown genetic disorders.  Entrants were judged for their success in identifying genes or candidate genes for each child, and their ability to present their findings in a clear and accessible fashion.

The winner (Brigham and Women’s Hospital Division of Genetics – always nice for the crowd when the hometown team wins) was announced November 7 – PERHAPS YOU MISSED IT, as the press was inexplicably preoccupied with the U.S. presidential election, which occurred on November 6th.  Brigham’s team was praised for the clarity of its reports – a deciding factor, despite the fact that one of the runner-ups was actually the only team to identify putative deleterious mutations for all three kids.  More importantly, the competition highlighted the growing need for sophisticated and high quality analysis to complement the increasing quantity of sequence data.  The take-home from the Clarity Challenge is this: generating strings of A’s, C’s, T’s and G’s may be a technical tour de force, but only analysis will turn data into information, and provide clinical relevance.  For one child, the competition did result in a diagnosis after a 10-year medical odyssey – a success, but a qualified success, since the mutation for a muscle-wasting disease was identified by only 8 of 23 qualified groups participating.  Hailed as proof in principle of the power of DNA whole genome sequencing, the Clarity Challenge also illustrated the lack of universal standards for analysis (not to mention for handling tricky details like non-diagnostic findings unrelated to the presenting medical issue).

Mo’ data, mo’ problems, kids.  Having identified a serious issue that isn’t going away anytime soon, the Clarity Challenge is rumored to be gearing up for competition #2: the cancer genome analysis.  Great idea!  And guys — using a combination of computer simulations and a careful reading of the literature – in this case, the U.S. Constitution – I predict that the next presidential election will be held on November 8th, 2016.  PR protip: you might want to pick a different week to make any major announcements.



Photo credit: Pharmafile.com

European Commission approval of Glybera, a stem cell therapy for familial lipoprotein lipase deficiency, marks a big step forward for the field, which had a tough year in 2011 when the first US trial of a stem cell therapy was shut down early as stem cell pioneer Geron withdrew to focus on experimental cancer therapies.  Poor stem cells!  It’s hard to be dumped for more lucrative therapeutics.  But researchers in stem cell therapy headed back to the gym – I mean the lab – and came back looking strong in 2012.  Reports suggest that a number of therapies have shown promise in clinical trials, including a publication in The Lancet describing a human embryonic stem cell therapy from Advanced Cell Technology that has showed early success treating retinal damage from macular degeneration.



Lots of reasons NOT to get excited about Kalydeco, the Vertex pharmaceuticals drug approved by the FDA in January 2012.  Sure the drug improves outcome measures for patients with cystic fibrosis (CF) – but only for those carrying the G551D mutation, a paltry 4% of individuals with CF in the United States today.  And what’s with the name?  It sounds like the Disney mascot for Epcot’s Visual Hallucinations Pavilion.

Photo credit: Drugs.com

Photo credit: Drugs.com

But Kalydeco, despite these limitations, is a leading indicator of growth for a whole category of targeted pharmaceuticals.  The Vertex product is the first approved drug to act by correcting the underlying genetic defect rather than ameliorating symptoms.
The strengths and the limitations of Kalydeco are its specificity; it restores the ability of the mutated CFTR protein produced by G551D to unlock the ion channel that is lost in CF.  Kalydeco, which represents the sort of therapeutic breakthrough everyone hoped would follow organically from a better understanding of disease pathophysiology, is a hopeful sign for all CF patients – a version aimed at the more common DeltaF508 mutation is reportedly in the works – and a hopeful sign for anyone who ever dreamed that we might someday talk about a “cure” for genetic disease.


The new Francis Collins Initiative for Translational Medicine in Rodents got off to a flying start in 2012:

In Italy, researchers grew kidney-like “organoids” that performed many of the same functions as kidneys when transplanted – in rats.

A new drug tested by researchers at Washington State showed promise in treating Alzheimers Disease – in rats.

Scientists at the University of Michigan used gene therapy to develop a sense of smell to successfully treat congenital anosmia – in mice.

Researchers at UCSD debuted an RNA interference drug that reduced the severity of symptoms for Huntington’s disease – in mice …

And two groups (one in California; the other in Spain) demonstrated success using engineered zinc finger proteins to block production of the mutant huntingtin gene product – in mice.

A molecular embryologist in Brussels reestablished absent thyroid function through transplant of thyroid tissue engineered in the lab – in mice.

Blind mice see!  Vision restored after transplant of rod-cell precursors – mice (blind mice!).

Photo credit: Wired.com

Photo credit: Wired.com

Deaf gerbils hear!  Hearing restored using human embryonic stem cells to replace damaged auditory cells – in gerbils.

Diabetic mice cured!  Insulin dependency ended with transplant of pancreatic stem cells – in mice.

Truly, has there ever been a better time to be a rodent? 


In an article published in Nature in July, 2012, researchers from Stanford announced  full genome sequencing done on fetal DNA drawn from the maternal blood stream – DNA, in other words, that could be obtained without invasive testing.  Several tests using non-invasive prenatal testing are already on the market, notably Sequenom’s MaterniT21 PLUS, the success of which drove a 68% increase in corporate revenue in the 3rd quarter of 2012 as compared to 2011 numbers.  Despite their commercial appeal, these beta versions of targeted non-invasive testing are still working out their kinks – amniocentesis or CVS are still needed as a follow-up to any positive MaterniT21 result – but the Stanford University researchers’ accomplishment drives home the potential of this technology to transform prenatal testing in the not-so-distant future.  Earlier, safer and more inclusive, this testing modality is likely to be a game changer that radically increases both the number of pregnant couples opting for testing, and the range of conditions included in a prenatal assessment.


On Friday, December 14th, Adam Lanza, a 20-year old loner described by former teachers as “intelligent, but nervous and fidgety,” took guns belonging to his mother and shot her four times in the head.  Then, for reasons we will never know, he took her car to the Sandy Hook Elementary School, shot his way through a locked door, and massacred 20 children and 6 adults and then himself with a systematic efficiency and precision that belied the random nature of the attack.  Sixteen of the children killed that day were 6 years old; the other four had already turned 7.

“Who would do this to our poor little babies?” asked Mrs. Feinstein, a Newtown teacher of 11 years.  For that question, no satisfactory answer would – or could – emerge.  Anecdotal reports of mental illness filtered out from people who had known Adam Lanza – he had a developmental disorder; he had autism; he was diagnosed with Aspergers.  Ten days after the attack, the Connecticut Medical Examiner sent a request to University of Connecticut scientists for help investigating Adam Lanza’s DNA.  “Geneticists Studying Connecticut Shooter’s DNA” ran the CNN headline on December 28th.  The article reported the consensus of the genetics community – no single genes existed that would be diagnostic for mental illness, and no single DNA sample could begin to establish variants or markers associated with violence – or any other behavior of a complex creature in a complex world.

DNA sequencing will shed no light on the painful question of why, but the use of sequencing in this context will color the public perception of genetics, with potentially dangerous consequences.  Ultimately, it is the headline that endures – the headline that suggests that some genetic quirk, some error in his code, some defect we can use to identify and root out the monsters among us — was the cause of this most horrific act.  It is far from the first headline of 2012 to imply genetic determinism (“Binge drinking gene’ discovered” proclaims the BBC; “As GOP convention begins, a look at how genes influence politics” trumpets the LA Times) but the Newtown tragedy illustrates most fully the potential for stigma and discrimination that accompany a reductive view of the relationship between genes and behavior.


 This was supposed to be about whole exome sequencing (WES) announcing its presence with authority in the clinical setting in 2012.  In May, David Goldstein et al published an article in the Journal of Medical Genetics documenting a high rate of success using WES to find diagnoses for patients with unexplained, apparently genetic conditions. Their exploratory studied considered a number of important, difficult issues: filtering of variants, variants of uncertain significance, communication of results to families, detection of carrier status and other non-diagnostic findings, obligations for re-contact.  Results were lauded as not only explanatory but in some cases “interesting” – the holy grail of academic research.

This story was supposed to be about WES, having its moment as the field transitions from targeted gene testing to whole genome analysis.  But everywhere I looked there it was, whole genome sequencing (WGS), hanging around the gym, saying “ooh, ooh coach – put me in!  put me in!”  Was 2012 the year of WES?  Well, yes! … but it was also the year when WGS with a 50-hour turn-around time was introduced for use in neonatal emergencies – and immediately declared standard of care for the neonatal intensive care unit at Children’s Mercy Hospital in Kansas City MO, where the pilot study was done.  And it was the year when the 1000 Genomes Project published data drawn from the WGS of over 1000 participants (thus the name), giving us what Genome Web Daily described as data that “made it possible to identify almost all of the variants found in as few as 1 percent of the population.”  Congratulations, WES!  Your moment has come.  Just don’t blink.


Remember “junk DNA”?  Me neither.  I am almost certain that none of us ever believed in the preposterous idea that the 98% of the human genome not coding for genes is a vast trash heap of discarded genes and chromo-babble.  A giant sea of artifacts and nonsense, meticulously copied by each dividing cell – surely this model defies everything we understand about the parsimony of the natural world?  For this reason alone biologists as a group instinctively knew the notion to be false.  At least, that is how I recall it.  As Lizzie Bennett says in Pride and Prejudice, “in cases such as these, a good memory is unpardonable.”

In September 2012, an international consortium of researchers organized by the NHGRI and wrangled by “cat-herder-in-chief” Ewan Birney of the European Bioinformatics Institute produced the first edition of the Encyclopedia of DNA Elements (ENCODE), in the unprecedented form of 30 articles published simultaneously in 3 cooperating journals: Nature, Genome Biology and Genome Research.  The combined publications constituted a first peek into the mysteries of the 98%, examining the expression and modification of non-coding DNA on a cell- and tissue-specific basis, identifying sequences receptive to chemical modification,  promoters of gene transcription, and all manner of transcriptionally active DNA signatures whose significance – if they have a significance – remains entirely speculative.  All together, it is an ambitious cataloguing of what Eric Green at NHGRI described as elements “involved in the complex molecular choreography required for converting genetic information into living cells and organisms.”

What is the take-home message of ENCODE?  That “not translated into protein” is not the same as “unused.”  In fact, the combined studies suggested that 80% of those shadowy untranslated regions were in fact transcribed into RNA – with a quarter of those RNA elements having known functional relevance.  As for the rest — well, some of it is regulatory – for instance, ENCODE documented a vast number of switches, used to turn genes on or off.  But for much of the genomic activity documented by ENCODE, all that one can say is that it exists.  Does it have functional implications for individuals?  The jury is out (and bickering).

The are so many reasons why ENCODE is the top genetics story of 2012.  It is on-trend as a BIG DATA story, producing raw DNA sequence data that required more than 300 total years of computer time to analyze – an illustration of the increased need for analytic skills that will follow as the celebrated technical achievements of the past decade become, in a flash, merely the norm.  The searchable ENCODE database is a model of open access – another 2012 hot topic.  And the project demonstrates that, despite a certain amount of clamor to the contrary, the most significant work in genetics today is a giant research project and several steps removed from clinical application.

In the dark years before the Human Genome Project, inebriated geneticists offered up back-of-the-cocktail-napkin approximations about the number of genes we carry, and every one of them was wrong.  Eighty thousand?  One hundred thousand?  Nope.  The final tally was more like 22,000 genes – and so unless we are prepared to declare ourselves less complicated than a water flea (31,000 genes), this can only mean one thing: that the architecture of human complexity is not derived solely from the blueprint laid out in our genes.  ENCODE, as a search for answers beyond the coding regions of our genomes, is a natural extension of the HGP, a first attempt to move beyond answers that lie solely in the exome.

For me, here is what makes ENCODE the genetics story of the year: it is both a beginning and an end.  The publication of ENCODE is a commencement ceremony for the HGP age – a moment in time when you come to the end of something and realize it is only the beginning of a greater journey.  The information it contains, while vast, is a mere sprinkling of breadcrumbs for others to follow.  But the trail it leaves shows us what we do not know.  Unknown unknowns are true ignorance – the sort of ignorance that leads us into a belief like “junk DNA.”  ENCODE is a great next step – the elucidation of what we do not know.  To a geneticist with exome data, like a man with a hammer, everything looks like a gene.  For ten years we have been hitting those nails hard.  ENCODE is a look beyond, to a wider array of targets, a wonderful acknowledgement of how much we do not know.

And that, ladies and gentlemen, is genetics in 2012!  Let me know what I’ve missed….

[Follow me on twitter: @laurahercher]


Filed under Laura Hercher

GENETICS and the year in review: MY TOP 10 STORIES of 2011

What were the most important news stories in genetics this year? Google the keywords “top stories genetics 2011” and page 1 entries include links to an article on direct-to-consumer testing to “determine your child’s athletic potential” AND an announcement of the sequencing of the cannabis genome. With all due respect to recreation in ALL its forms, neither of these made my list – but it does go to show, we live in exciting times. My Top Ten include stories that made news around the globe as well as others, largely ignored, that lingered in my mind as harbingers of change or hints of things to come. Here’s my own idiosyncratic assemblage of ten trending hashtags I’m betting will drive the conversation for years to come:


Ion Torrent Introduces the Personal Genome Machine, a $50,000 small-scale sequencer with a 2 hour turn-around time for 100,000 base pair reads. OK, this actually happened in December, 2010, but to be fair no one noticed until January. The PGM can’t duplicate the quantities of data produced by other next-gen sequencers, but its low cost, desk-top size and speed make it emblematic of the increasing availability of genome sequencing.


Non-Invasive Prenatal Screening becomes a reality: Sequenom introduces MaterniT21, a Down syndrome test done on free-floating fetal DNA from a maternal blood sample drawn as early as 10 weeks gestation. Rebounding from an embarrassing episode in 2009 that began with some executives deciding to make the research data look a little more exciting for investors and ended with the former senior VP for research and development pleading guilty to conspiracy to commit securities fraud, Sequenom became the first of several competitors to offer a test based on this ground-breaking technology, which is projected to eventually offer a means of analyzing the entire fetal genome in the early stages of pregnancy, without the risks or costs (or the 2nd trimester terminations) associated with amniocentesis or CVS. In a related development: tests based on similar technology are already widely available to predict gender. The Consumer Genetics Pink or Blue Pregnancy Test is sold at your neighborhood drug store and on Amazon (but NOT in India or China!); a study published in JAMA this summer estimates that it is accurate over 95% of the time.


On May 20th, 2011, Craig Venter of the J. Craig Venter Institute announced the creation of the world’s first synthetic life form. Manufactured by adding a man-made genome (sequenced by machine) to a pre-existing bacterial cell emptied of its own DNA, the resulting one-celled organism was a wholly novel life form capable of replication.  Critics accused Dr. Venter of playing God, charges Venter vehemently denied.  “Who says I’m playing?” Venter explained.Yes — I’m kidding But he did say, in describing this milestone, “we took two years off to sequence the human genome and then got back to the task at hand.”  Here are his remarks in full, introducing the first “synthetic cell”:


In 2010, Judge Robert Sweet shocked the world of patent law when he ruled that isolating and purifying genes did not transform them from something naturally occurring into a product of man’s ingenuity – meaning that under law, the DNA sequence of a gene was not something that could be patented.  Genes, he said, are “the physical embodiment of information,” and cannot be treated like other chemicals, where any change in the molecular structure is transformation enough to justify a patent.  In July, the Federal Court of Appeals overturned Judge Sweet’s decision in ACLU v. Myriad, ruling that genes in isolation were “markedly different” from genes in their natural form.  This decision affirmed the pre-existing status quo permitting gene patents, and set the table for a possible Supreme Court showdown in 2012 to determine the fate of DNA patenting.  The High Court has already heard related arguments in Mayo v. Prometheus, a case that hinges on whether or not observations of natural phenomena – in this instance, how the body responds to thiopurine drugs – can be patented.  Both cases will affect the development of personalized medicine in ways that are hard to predict – some experts claim that nascent technology like whole genome sequencing will never make it into clinical use if the cost reflects license fees from thousands of individual patent holders.  Others suggest that the technology will not be developed in the first place, if industry does not believe its investment will be protected.  And just to add a bit more carbon to the uncertainty of the patent law climate, on Halloween the European Court of Justice ruled that NO procedure involving human embryonic stem cells can be patented (Boo!  Scared you, European biotech!).  Their decision rests on the idea that the use of human fetal tissue for commercial purposes is contrary to public morality, and it sets up a striking contrast with the U.S., where these patents remain enforceable.


Genome-wide association studies were billed as a sort of shortcut to making genomic information relevant to clinical practice, but after years of GWAS results that provoked the response ‘that’s interesting , but what does it mean?’, sequencing for rare variants has done what studies of common variants could not do: moved genomics into medical practiceIn January 2011, Nicholas Volker was declared by Forbes Magazine to be “the first child saved by DNA sequencing,”after doctors at the Medical College of Wisconsin did full sequencing on a chronically ill 6-year-old with unexplained intestinal disease.  In October, Scripps Health launched a program using whole genome sequencing to determine the cause of idiopathic diseases.  Rare variants have also helped us keep chipping away at the notorious “missing heredity”: this fall, DeCode Genetics announced the discovery of a sequence variation that increases the risk of ovarian cancer by more than 8-fold; this highly predictive risk factor was uncovered by GWAS studies adapted to include rare variants (And you thought they were out of business, didn’t you?).



In October, the International Journal of Epidemiology published an article that didn’t get a lot of press, perhaps because of the particularly opaque and not particularly grammatical title:Associations with early-life socio-economic position in adult DNA methylation”.  The article demonstrates a correlation between early life experience and adult DNA methylation patterns, suggesting that childhood experience may create lifelong changes in gene expression and affect health outcomes into adulthood.  This finding supports earlier observations in rodents and other mammals, and it may indicate a mechanism by which epigenetic changes can be transmitted across multiple generations – evidence  in support of the widely held suspicion that epigenetics is yet anther suspect to be reckoned with in the mystery of the missing heredity.


For decades, gene therapy has held itself out to be our knight in shining armor, while acting more like that bad boyfriend from high school, full of sweet talk and promises he couldn’t keep.  It’s been NOTHING but heartbreak and 12-step programs for years now (Step 1. Admit that you are powerless to control gene expression.  Step 2. Find a vector you can believe in…).  Finally, SOME ENCOURAGING NEWS!  In separate studies published this year, researchers reported encouraging early results for the use of gene therapy to treat both SCID and Hemophilia BHas the bad boy of the genetics world really matured into a responsible citizen, or is gene therapy going to go Charlie Sheen on us yet again?  Give him another chance, venture capitalists.  Give him a chance, okay?  Just don’t give him a key to your apartment.  Not yet, anyway.


American Association of Blood Banks 2011 report indicated that paternity testing has increased 400% over the last two decades.  This evidence supports the notion that the public is increasingly comfortable with the use of genetic testing outside of conventional medical applications.  The Identigene Paternity Test Collection kit is available at Walgreens for $27.58 (with an additional $129 lab fee; more fees are required for results that are admissible in court).


In June, letters from the FDA sent to personal genomics firms 23andMe, Navigenics, DeCode Genetics, Pathway Genomics and Knome as well as the chip maker Illumina, articulated an evolving consensus within the agency that genomic tests constitute a medical device and should be subject to regulation under the FDA mandate.  The letters, which followed the announcement of a Pathway Genomic’s plan to market direct-to-consumer testing through the drug store chain Walgreen’s, represented an opening salvo in the orchestration of a regulatory structure for genetic testing.


In September, 2011, researchers at Vanderbilt University announced a major step forward in the development of a potential new therapy for Fragile X that targets not the symptoms but one of the underlying causes – a paradigm shift in medical care for the type of genetic syndrome long considered untreatable.  Building on earlier studies that demonstrated a relationship between excessive protein synthesis and the Fragile X phenotype, the Vanderbilt approach uses novel drug-like molecules that down-regulate the mGlu5R receptor to reduce receptor-mediated protein synthesis.Researchers are hopeful that this therapy will improve neurological manifestations of Fragile X, which often include autistic-like behaviors – raising the tantalizing prospect that success might constitute proof in principle of our ability to treat autism and other cognitive and neuro-developmental disorders.  Seaside Therapeutics, the industry money behind the Vanderbilt studies, plans to begin its clinical trials in 2012.  Meanwhile, the continuing Seaside-Vandy partnership is at work on development of a second drug, designed to reduce social withdrawal.  In a report released to the press by Seaside in May, V.P. of research Aileen Healy stated, “We are now beginning to believe that intellectual disability is not, as previously understood, an immutable condition.Translating our understanding of the biological effects of key genetic mutations has revealed a variety of promising mechanistic approaches to treat Fragile X syndrome, which I believe represent an exciting opportunity to realize the mission of developing effective therapeutics.”How 2011 is this story?  Let me count the ways:

  1. Research illuminates the pathophysiologyof the disease, providing new targets for therapy – just like those guys from the HGP said it would!!!
  2. New information suggests that a familiar syndrome is more complicated than we thought – and that damage caused by the genetic defect, as with Down Syndrome, is only partly congenital and accumulates over time.
  3. Cutting edge therapy involves interfering with gene expression.
  4. Academia partners with industry, to find scarce recession-era funds – and to participate in the profits, should any materialize.
  5. Industry partners with academia, to help defray the burdensome investment of time, money and brainpower associated with drug development.
  6. Some things we expect to be easy turn out to be impossible.  Some things we expect to be impossible turn out to be – well, not easy, but possible.  In 2011, trying to predict the winners and the losers is a fool’s game (which is why I am recapping 2011 here, and making NO predictions for 2012).
  7. Treatments for genetic disease that decrease morbidity and improve outcomes but do not cure will require life-long treatment – raising serious new questions about how we will be able to afford what we are able to do.
  8. And the most 2011 point of all: this new therapy is great in theory but it hasn’t helped anyone – not yet.


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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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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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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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Perils of Language: Why Sonia Sotomayor Won’t Call Herself “Pro-Choice”

As Sonia Sotomayor faces the Senate Judiciary Committee this week, two things are certain:Sonia Sotomayor

1. Much of the questioning will be about abortion.
2. You will almost never hear the word abortion.

When we talk about this subject – in speeches, in newspapers, and on our NSGC list serve – the dialogue is shaped by the words that we use, and the words that we avoid.  In the Senate, the discussion will use code words like “judicial philosophy” and “stare decisis.”

The rest of us will make do with more accessible terms like “pro-life” and “pro-choice.”  Rereading the contributions of genetic counselors following the heinous murder of Dr. Tiller, it is striking how much the use of that familiar shorthand directs the conversation into well-worn ruts of left and right, pro and con, when the truth is I suspect that the majority of counselors – like the majority of Americans – have more in common on this difficult subject than readily meets the eye.

Take a look at the most recent Gallup Poll results of the subject of abortion. The headline in May was “more Americans than ever before identify themselves as “pro-life.”  Had this poll been taken after Dr. Tiller’s murder, the results might have been different – and the news organizations would have proclaimed this a change of heart.  But really, how many hearts were changed?  It only illustrates the ambivalence with which Americans attempt to shoehorn their complex and emotional attitudes toward abortion into inflexible categories drawn up by impassioned ideologues on both sides.

In stark terms, “pro-life” suggests that a fetus is no different than a baby.  If this is truly what you believe, how can any abortion be justified?  Many participants in our discussion complained about the intransigence of pro-lifers who won’t make exceptions for rape, incest and so on – but how many of us would identify circumstances under which it is acceptable to end the life of a baby?  Just over twenty percent of the population is opposed to all abortion, a position which may be intransigent, but is nonetheless morally consistent.

But look at the Gallup Poll results in greater detail and you will see that the vast majority of Americans favor abortion in certain circumstances.  What does this suggest?  Despite the fact that it is hard to talk about and it makes people uncomfortable, most of us believe that becoming a human being is a process – a continuum. We all seek to identify a point along that continuum when “human-ness” becomes so compelling that our moral obligations are clear.  But whether or not you pick conception, or quickening, or viability or birth, the truth is that there are few of us who would not admit that if the building were on fire and we could only save one soul, we would go for the two-week old baby over the frozen embryo every time.

A majority of genetic counselors identify themselves as pro-choice (although not all, as we all learned in that listserve conversation!).  I am guessing that despite our political and professional stake in that identification, most of us have our own sliding scale, and we may all find ourselves a bit queasy about an abortion that occurs late or for a reason we find “inadequate.”  I believe that what can get lost in the language of political engagement is that we are largely in agreement that abortion is an ugly necessity until the moment when it becomes entirely untenable.  When is that moment?  Don’t we all struggle with that?  Can’t we all sympathize with the desire for a clear and convincing answer?  Don’t we know it will never come?

Good luck, Sonia!

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About that Paternity Test… (Part 2)

(Find Part 1 here)

Okay, so Ms. Washington’s twins have two daddies. It’s just tabloid-fodder, right?. But reading it (hey, it’s my job!) I saw a kind of grandeur in this tale: a window into our evolutionary past. After all, routine gestation of a single child is a late development; most mammals carry littermates, often with different baby-daddies. These offspring compete for scarce maternal resources during and after the pregnancy — a competition that may explain the origin of maternal and paternal imprinting of chromosomes.

Here’s the thing: in evolutionary terms, the best interests of the mother and the best interests of the father are not always aligned. During a pregnancy andpig litter over her lifetime, a mother aims to produce as many healthy offspring as possible, which means protecting her own health and distributing her resources evenly, to maximize the chances of multiple babies in multiple litters. What with monogamy being a new idea – maybe that’s why we’re not better at it! — fathers back in the day were relatively unconcerned about the long-term health of the mother. Their mandate was to promote the success of their own offspring, even if it came at the expense of the gestating, caretaking parent (why do you think they call it MAN-date, anyway?). Competition would be particularly intense among littermates – if one father could find a way to get his offspring a disproportionate amount of maternal resources, his genes would thrive at the expense of others. In evolutionary terms, a good day at the office.

Conflict Theory, a school of evolutionary thought espoused by David Haig among others, looks at the consequences of these dueling agendas. Genetic changes that increase or speed-up growth would be favored – when they came from the father. Genetic changes that restrict or delay growth would be favored – when they came from the mother. Evolution would become a see-saw affair.

Let’s take the example of IGF-1, which promotes growth in multiple tissues in utero. Dad wants to make sure his kids are not the runts of the litter; mom wants to look a bit less like a beached whale. Mutations over time alternately increase and decrease the rate of production of IGF-1. Then one day a mutation occurs affecting methylation patterns that shuts down the maternally-inherited allele entirely – imprinting. In the war between the sexes, it is the evolutionary equivalent of the discovery of gunpowder.

Davor Solter first provided evidence of something like imprinting when he discovered in 1984 that proper mouse development required one male and one female set of chromosomes. Use all paternal genes and you get an underdeveloped fetus and too much placental tissue – like a molar pregnancy, which results from an empty egg and two sperm. Molar pregnancies are dangerous because of their unrestricted, highly invasive growth – just what you might have predicted from conflict theory. Maternal-only fetuses look more like mice but are small, and lack supportive tissue.

thinkingThe same logic can be used to predict which parent’s genes are over- or under-expressed in syndromes involving imprinted alleles. Beckwith-Wiedemann, an overgrowth disorder, can be caused by a double dose of paternal genes. The diminutive Russel-Silver baby? – a double dose from mom. Recently, a novel variant was found that is associated with the development of type II diabetes, but only when the allele is inherited from…drumroll please….dad.

So if you think the superfecund Ms. Washington is a sign of the times, think again. Men may not have realized until now that such a thing was possible, but their genes have known it forever. And if you think your genes are making you fat – kids, I’m begging you – blame your Dad.

Photo credit 1

Photo credit 2


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About that paternity test…I’ve got good news and I’ve got bad news

PART 1 of 2

When Mia Washington and her boyfriend James Harrison ran a paternity test on her eleven-month-old twins, they got a result that made news at home and abroad. Harrison was the father – of only one twin. The other dad? His identity has not been released. Washington told Fox News: “Of all the people in America and of all the people in the world, it had to happen to me. I’m very shocked.”


How rare is this? To no one’s surprise, there isn’t a lot of research on this subject (Can you imagine doing the informed consents for that study?). However, estimates suggest that as many as 12% of all fraternal twins are conceived in two separate acts of coitus, a phenomenon common enough to have its own six-syllable name: superfecundation. Parenthetically, this raises an interesting question: how many genetic counselors routinely consider the possibility that twins may differ by days or even a week in their gestational age?

And if mommy is spreading the love, there is no guarantee that the resulting children won’t have different fathers (“heteropaternal superfecundation”). In fact, a review of one database of paternity test results revealed bi-paternity in three cases, or 2.4% of all fraternal twins tested. You have to assume a major ascertainment bias in a population doing paternity testing, so it is hard to know how to generalize those numbers. One study suggests that of all naturally conceived fraternal twins born to “married, white women in America,” one in 400 sets are bi-paternal. The author adds that the number may be higher in certain populations, “like prostitutes”. Going out on a limb there, buddy.

Bi-paternity may be news but it is a pretty safe bet it isn’t new. As shocking as it is to the rest of the world, to genetic counselors it has a familiar ring to it – another cautionary tale about how treacherous it is to make assumptions about paternity. But there is a more ancient angle to this story as well; more on that in my next post.


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