by | September 29, 2013 · 1:15 AM

Questions For The Panel

If you are a genetic counselor engaged in testing for hereditary cancers, I suspect you are as bewildered as I am these days. With so many labs offering BRCA testing post Association for Molecular Pathology v. Myriad Genetics, Inc. it is difficult to know which labs best serve our patients in terms of value, reliability, insurance coverage services, clinical support, and quality assurance. Familiar labs are offering new tests and unfamiliar labs are offering testing at Costco prices. Not to mention various law suits and counter-suits over BRCA testing that make me worry that some judge somewhere is going to tell a lab to put all of its testing on hold, leaving patients’ test results in legal limbo.

But what really has me confused – and not a little bit upset – are the new multi-gene cancer panels.

The advantages of the multi-gene panels are obvious. They are cost-effective. They help avoid pondering “Gee, that family really could have been a Cowden. I really should have run PTEN” into the sleep-disturbed wee hours of the morning. Panels will also probably result in significant syndromology reassessment. If you offer PTEN testing only to families who look like they  have Cowden syndrome,  you lose much of the true clinical variability of the condition. And, with all respect and apologies to Robb Pilarski,  Cowden syndrome is in serious need of re-assessment.

Savvy patients are beginning to demand multi-gene panels because they read about them on the Internet or heard about it at their support groups. And I would not be at all surprised if DTC marketing of gene panels starts to rear its ugly head along side the tadalafil, cyclosporine, ibandronate, and eszopiclone commercials that run during the evening news.

So what’s not to like about  multi-gene panels? Let’s face it – many of us are just plain bored with BRCA testing. Panels all cost about the same price, and not terribly more expensive than just running BRCA1/2. Woe to a clinic that only offers BRCA1/2 testing when their crosstown rival routinely offers multi-gene panels to everyone. And who wants to look like an out-of-it fuddy dud who only offers a test developed in the previous century? Isn’t it great to have a choice to run a 6 gene panel, a 16 gene panel, a 26 gene panel, or a 49 gene panel to suit the needs of patients and clinicians? You just choose the panel that’s right for the patient.

And therein lies the rub. How do I know which panel is right for my patient? Labs offer little in the way of clarification as to why certain genes are included or excluded from a panel. From the clinician’s perspective, it seems like the choices reflect the arbitrary expertise of the lab with certain genes, the economic calculations of a given lab, and the desire to out-gun the other labs – why sail a 6 gun sloop when a 40 gun ship of the line can blow it out of the water? In my darker moments, I think that we sometimes choose a lab because a famous geneticist is affiliated with it or a friend from grad school works there.

If clinicians and the labs are honest about it, most of us have little idea of how to guide patients who have a deleterious mutation in genes like RAD51, GEN1, XRCC2. Sure, most labs provide references that might justify inclusion in the panel. But the labs do not cite contrary articles that suggest the predictive power of the particular gene might be low nor do they mention the paucity of publications on the clinical management implications of many of the genes.

There is also a noticeable absence of information on the demographic, clinical, or family history characteristics that might point to one panel over another. Are mutations in one set of genes more common in Russians, Japanese, or Native Americans? Are weak family histories suggestive of one group of genes and strong family histories indicative of another set of genes? What about age of onset? The tumor’s genetic or pathologic profile? Breast only families? Breast and colon families? Clinicians don’t know and neither do the labs.

A step in the right direction will be the pre-conference symposium on gene panels at the upcoming NSGC Annual Education Conference on October 9th. But that is only small bandage on a gushing artery. Bigger measures are needed, and here I offer a few:

1) The key professional organizations – NSGC, ASCO, SGO, etc. – need to form a joint committee that identifies a minimum set of critical genes that should be included on all breast, ovarian, or whatever cancer panels, à la newborn screening. Labs would be free to include whatever additional tests they would like. A joint panel would prevent each society from recommending its own preferred panel that might result in confusingly different recommendations from other professional organizations. Such a panel must take great pains to avoid any financial or intellectual biases.

2) The genes included on the panels should be rated according to their clinical utility and the strength of the data based on an analysis of peer-reviewed publications.

3) Centralized databases should be established for tracking patient outcomes,  clinical and demographic variables, and variants of uncertain significance. Labs that fail to participate in joint databases should be singled out so that clinicians would have the option not to utilize labs that declined to participate in joint registries. While it is important for labs to stay competitive, fiscally sound, and profitable, we can’t lose sight of the core ethical value that the primary goal of genetic testing is to serve patients, not bottom lines. Failure to share data strangles the tree of patient care at its roots.

4) Lab websites should include a balanced discussion of the pros and cons of why each gene is included in the panel – particularly for those genes that are not recommended by the above suggested joint committee – and a regularly updated link to a Pubmed search for that particular gene, not a simple link to one or two articles.

5) The joint committee could also serve an advisory and educational role to health insurers so that patients have equal access to appropriate testing, regardless of which plans cover them.

No doubt The DNA Exchange’s wise and insightful readership have their own ideas, opinions, and recommendations. Let’s hear about them.

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by | September 2, 2013 · 6:45 PM

Freud, Kesey, Campbell, And The Case of A Congenitally Unusual Vagina

Vintery, mintery, cutery, corn,
Apple seed and apple thorn;
Wire, briar, limber lock,
Three geese in a flock.
One flew east,
And one flew west,
And one flew over the cuckoo’s nest.

A recent story about teeth grown from stem cells that were extracted from urine reminded me, in the odd ways that brains make associations, of One Flew Over The Cuckoo’s Nest. I first read Ken Kesey’s novel in the mid-1970s when I was majoring in anthropological folklore at Brooklyn College,  a wannabe Joseph Campbell. Kesey’s novel, viewed through my newfound mythological lens, was ripe with primal imagery and mythological motifs . A decade and a career later, I came across a case report in the British Journal of Obstetrics and Gynaecology of a rare congenital anomaly and in a flash my worlds of mythology and genetic counseling merged. And it all starts with a vagina, or more precisely, a toothed vagina.

Three near universal figures in folklore are Trickster, Hero, and the Vagina Dentata. Trickster takes on many shapes and forms and plays different roles in different cultures. A common story involves Trickster disobeying the social rules to upset cultural norms. One could make the case that Bugs Bunny is the culturally distorted Looney Tunes descendant of Trickster Rabbit. Hero is often the Founding Father or Savior of a culture who must overcome a great obstacle or defeat a horrible monster, not uncommonly with the help of Trickster. The Vagina Dentata figure is a female beast – sometimes called The Terrible Mother –  who is endowed with a toothed vagina with which she emasculates and controls men.

As you might guess, the vagina dentata figure is a frequent target of psychoanalytic theory and feminist critiques. Clearly this goes deep into Freudian territory. Some view it as the mythological re-telling of the conflict between patriarchal and matriarchal societies. Females are portrayed as monsters because the story is told by male victors.

Set in what was then called an asylum  for the insane in Oregon, the plot centers on Randle Patrick McMurphy (better known to many of us as Jack Nicholson), Chief Bromden, and Nurse Ratched, the three geese of the rhyme’s flock. McMurphy/Trickster wreaks havoc by commandeering boats and buses, and generally irritating Nurse Ratched by flaunting her rules that give her absolute control of the inmates. As Nurse Ratched describes McMurphy to a co-worker: Sometimes a manipulator’s own ends are simply the actual disruption of the ward for the sake of disruption.

Chief Bromden is Hero, a big man whose large size is a phallic symbol and inability to speak is a manifestation of his impotence and domination by Nurse Ratched.

Nurse Ratched is the Vagina Dentata. A ratchet wheel is a toothed wheel (okay, the spellings aren’t exactly the same, but give Kesey some literary license here) and cuckoo’s nest is an old slang term for vagina. Chief describes Nurse Ratched’s  monster-like qualities:

She’s going to tear [them] limb from limb, she’s so furious. She’s swelling up, swells till her back’s splitting out of the white uniform and she’s let her arms section out long  enough to wrap around the three of them five, six times. She looks around her with a swivel of her huge head…and she blows up bigger and bigger, big as a tractor….

Later, McMurphy discusses Ratched with another inmate:

Inmate: She’s not some kind of giant monster… bent on sadistically pecking out our eyes.

McMurphy: No, buddy, not that. She ain’t peckin’ at your eyes. That’s not what she’s peckin’ at.

Inmate: Not our eyes? Pray then, where is Miss Ratched pecking, my  friend?

McMurphy: At your balls, buddy, at your everlovin’ balls.

With his slyness and fondness for breaking rules, McMurphy gains Chief’s trust by sharing a pack of gum and gets him speaking again , symbolically restoring Chief’s phallic potency.

Later in the novel, McMurphy recruits some prostitutes to help release the sexual repression of the stuttering Billy Bibbit. Nurse Ratched discovers the shenanigans and humiliates Billy by threatening to tell his mother. Subsequently, the shamed Billy commits suicide for which McMurphy blames Nurse Ratched. Enraged, McMurphy chokes Ratched and ripped her uniform all the way down the front, screaming again when the two nippled circles started from her chest and swelled out and out, bigger than anybody had ever imagined, warm and pink in the light...

McMurphy’s punishment for the assault is lobotomy, the symbolic equivalent of castration for Trickster whose power lies in his wits. Chief, his vitality restored by McMurphy, smothers the lobotomized McMurphy (a half century before Oregon passed its Death With Dignity law), rips a control box off the floor, smashes a window, and escapes to freedom, Hero resurrected.

Of course, this is only one of many ways of reading the novel. Did Kesey have mythological motifs in mind when he formulated the novel? That’s unknowable, but if folklorists are right, mythology is always on our minds. The tales that emerge from writers and storytellers tap into deep subconscious wells. The sexual and power conflicts within our minds and our society play out in our stories; we can’t help but tell these tales.

It is not surprising that congenital anomalies and genetic disorders can play mythological and religious roles that range from sacred to profane. Congenital alterations of the flesh may be transformed into hero or beast. It’s hard to say if an actual toothed vagina is the source of the mythological figure, but even the rarest encounter (although ovarian dermoid cysts not uncommonly contain teeth) with this anomaly would likely have left a deep and lasting impression. As Chief says, “It’s truth even if it didn’t happen.”

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by | August 11, 2013 · 8:11 PM

Albatross

Ah! well a-day! what evil looks
Had I from old and young!
Instead of the cross, the Albatross

About my neck was hung.

And till my ghastly tale is told,

This heart within me burns

He went like one that hath been stunned,
And is of sense forlorn:
A sadder and a wiser man,

He rose the morrow morn.

– Excerpts from The Rime of The Ancient Mariner, by Samuel Taylor Coleridge

Eugenics. I can hear the thud as the collective eyes of genetic counselors roll heavily at the mention of the E-word.  That finger has been wagged in our faces ad infinitum. Alright already, we have learned our lesson from this shameful past. That was like more than half a century ago. Do we have to still keep apologizing for something we never did? Enough with the hand-wringing and perseveration. We’ve smoked this one down to the filter.

Well, no, apparently we are not done. As historian of medical genetics Nathaniel Comfort has pointed out in a recent thoughtful Genotopia blog (with an equally thoughtful commentary by Alex Stern, the biographer of our profession), eugenics discussions are back with us. We need to keep having the discussion because apparently we are not sadder and wiser people this morn. Some even think – with great hubris, in my view – that with our supposedly greater wisdom and technological advances, maybe some version of eugenics is not such a bad idea after all.

I am not going to repeat Nathaniel’s and Alex’s arguments here; visit the Genotopia blog and read the originals. What I want to do is to offer a  framework for thinking about the issues raised by these historians and introduce the concept of genetic discrimination into the mix.

Genetic discrimination, in my definition, is discrimination based on a person’s presumed or actual genotype and it’s presumed or actual phenotypic expression. The word discrimination comes from  the Late Latin discriminationem, meaning “to make distinctions” and can have both negative and positive connotations. Racial and gender discrimination that results in suffering and inequity is bad. But a discriminating person is one who shows great taste for fine things. Not to try to dance too many angels and devils on the head of this pin, but perhaps when discrimination has a negative effect, it could be called dyscrimination.

Eugenics, then, can be viewed as a form of negative genetic discrimination, the goal of which is to improve the genetic health (whatever that means) of future generations.

Prenatal diagnosis, the usual aim of eugenic critiques, is not eugenic because it does not try to alter allele frequencies of future generations. Down syndrome is almost never an inherited disorder, and people with Down syndrome rarely reproduce. Prenatal diagnosis is not an attempt at “the self direction of human evolution,” as the 1921 Second International Eugenics Congress defined eugenics.  But from the standpoint of some, prenatal diagnosis is a form of negative genetic discrimination – fetuses are discriminated against because of their genome and the common but inaccurate perception of the Down syndrome phenotype as a backward child with a heart defect but a pleasant personality. Although the insensitive term mongolism is rare these days, the common image of “the Mongol child” has not evolved as much as it should have.

Pre- or early pregnancy screening of parents for mutation carrier status for various genetic conditions, on the other hand, might rightfully come under eugenic criticism since its explicit goal is to improve the genetic health of future generations and to wipe out genetic diseases by preventing the conception of homozygous recessive offspring. Never mind the nonsense spewed forth on some websites; carrier screening usually has very little to do with improving the health and quality of life of babies who are born with genetic conditions. Carrier screening can result in reduced suffering if fewer children are born with life threatening or medically serious disorders but it rarely improves the health of babies who are born with those conditions. Whether this is a “good” or a “bad” form of eugenics, and how commercial laboratories advertise their product, are questions open to healthy debate.

Newborn screening, as it is currently practiced, is not eugenic because its intent is to improve the health of a child by treating the presumed phenotype based on the genotype. Newborn screening could thus be viewed as a positive form of discrimination, albeit one with flaws that we are not comfortable acknowledging . But newborn screening can also be viewed as negative genetic discrimination, depending on the condition being screened for. Some people who are deaf have raised serious concerns about screening newborns for hearing loss.

Genetic screening for adult onset disorders like Lynch syndrome or familial hypercholesterolemia may be positive genetic discrimination. The goal of this screening is to treat the phenotype based on the genotype with the hope of reducing the incidence of serious, life-threatening diseases or to mitigate their effects. Dietary changes, treatment with statins, high risk cancer screening, and surgery are strategies that are offered to people at increased hereditary risk of developing these diseases. Of course, if there were to be widespread preimplantation or prenatal diagnosis for these conditions, then we should rightly raise eugenic questions.

Why make these distinctions? Because the word eugenics has become an angry accusation that ends discussions. The social effects of genetic medicine and genetic counseling should always be open to vigorous scrutiny but the criticism needs to be accurate and sensitive to nuance. Maybe some of what we genetic counselors do is eugenic, and maybe under certain situations, this may not be as terrible as it sounds. And maybe some of what we do is dyscriminatory but not eugenic; we need to understand why it is dyscriminatory so we can do something about it. And maybe lots of what we do is very helpful for many people and not particularly eugenic. To cram all of medical genetics into a eugenic framework prevents any progress from ever being made. The two sides start to resemble Democrats and Republikans in a dysfunctional Congress, never able to engage in meaningful debate. Let’s get this albatross off our necks.

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by | August 6, 2013 · 7:08 AM

Work, Life & Flexibility in Genetic Counseling

Work/life balance is one of the perks of our profession. Right?

I remember learning that great work/life balance was a benefit of the profession when considering genetic counseling as a career. I now routinely share this ‘fact’ with students who are interested in learning more about becoming a genetic counselor. In comparison with most of my friends– who work in advertising, pr, law and finance– my work/life balance is incredible. I can put in a full day of work, head to the gym and be home by 7pm to enjoy a leisurely evening. My hours are very predictable – and when I leave work I’m not on my phone all night like so many others I know.  So, last summer when the popular article Why woman still can’t have it all was circulating among my female friends, I read it with some distance. 

The author Anne-Marie Slaughter, a professor and former director of policy planning at the State Department, challenges the popular assumptions that if a woman 1) has enough ambition, 2) marries a supportive-enough partner and 3) plans her pregnancies accordingly, she can have a successful career in a position of power and nurture a happy and healthy family life all at once.

In her words,

Women of my generation have clung to the feminist credo we were raised with, even as our ranks have been steadily thinned by unresolvable tensions between family and career, because we are determined not to drop the flag for the next generation…I still strongly believe that women can “have it all” (and that men can too). I believe that we can “have it all at the same time.” But not today, not with the way America’s economy and society are currently structured.

The author goes on to argue that having flexibility in the workplace (namely the ability to determine your own schedule and work from home when needed) is one of the single most important factors in helping to balance a successful career and busy home life.

I am currently on maternity leave, and thinking back to this article I realize that the author’s focus on flexibility really stuck with me. While there are many things I enjoy about working in a busy clinical setting, flexibility is not one of them.

F&A June 2013

If I’m not able to make it in for my 9am patient, then it falls on the shoulders of a colleague, pushing back her own 9:30am appointment, which in turn will affect a whole day full of patients. Like many counselors I know, I very rarely miss a day of work unscheduled. But as I look towards the future imagining an ill child or a caregiver who calls in sick—I realize I may no longer have as much control as I used to. I am reminded daily by my giggling and communicative 5-month old daughter that it is no longer just me I have to worry about. I’m learning that my definition of ‘work/life balance’ may be about to change.

Out of curiosity, I went to Professional Status Survey to get a sense of how we as a profession rate our work/life balance.  Looking at the most recent versions of the National Society of Genetic Counselors and the Canadian Association of Genetic Counsellors surveys, it appears that the question has not been formally asked.

Beyond the clinic

Increasingly, genetic counsellors are working in a wider category of roles and environments. In fact, we have used this blog to highlight diverse GC roles in the past. My childless self had previously seen this primarily as a sign of the genetics field expanding. But it now occurs to me, this may also be in part a result of GCs looking to find a professional opportunity that better suits their lifestyle. I recently came across a nice interview on the Counsyl blog about a genetic counselors’ decision to trade-in clinical life to work from home that would support this view.

The trend towards a non-traditional work environment is happening in almost every sector. Many argue that our society is at a turning point, where lengthening commutes and new technological capabilities are prompting employees and employers to re-consider the traditional workday. For instance, Medcan Clinic – my current employer – has recently increased our services to include Saturday clinics. As our society – including our patient population – increasingly values flexibility, our profession will have to continue to adapt. Responding to changing patient and employee schedules will likely become an even bigger focus in the coming years; and as a result we can expect to see the creation of even more non-traditional services, roles and communication formats.

How might the GC profession maintain its positive work/life reputation in a world that increasingly values flexibility?

The medical world tends to lag other professional service industries when it comes to making change. I recognize that the structure of the traditional genetics clinic will not likely undergo any wholesale changes overnight. Nevertheless, I think this is an important conversation for us to start having now. In fact, I’ll be participating in a panel on technology and innovative communication in genetic counseling at this year’s NSGC conference in Anaheim (excuse the shameless plug).

I would love to hear from other GCs who have thoughts and experiences around this topic. Where do you think the GC role currently stacks up for work/life balance? Have you found ways to integrate more flexibility into your role? Where do you see opportunities & challenges for GCs to better manage work/life as our profession evolves?

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by | July 11, 2013 · 10:27 PM

Guest Post: NIPS Is Not Diagnostic – Convincing Our Patients And Convincing Ourselves

By Katie Stoll, MS

Katie Stoll is a genetic counselor in Washington State. She graduated from the Brandeis University training program in 2003 and since that time has held positions in the areas of prenatal, pediatric and cancer genetics.

A couple of years ago we were just beginning to learn about a new prenatal testing technology termed Noninvasive Prenatal Diagnosis. It was soon relabeled as Noninvasive Prenatal Testing, and now the American College of Medical Genetics and Genomics recommends this be taken one step further by terming it Noninvasive Prenatal Screening (NIPS) to highlight the limitations of this new technology.

As currently reported by labs, NIPS presents new challenges for genetic counselors. Of particular importance is figuring out how to convey to patients and healthcare providers why relying on sensitivity and specificity alone may lead to misinterpreted results. In the absence of positive and negative predictive values there may be a tendency to assume that the high sensitivity and specificity reported with NIPS means that these tests are more powerful – more diagnostic – than they actually are.  

It is imperative that we understand both what the terms mean and how they relate to a person’s likelihood of having a condition.   Sensitivity measures the true positive rate – the proportion of actual positives which are correctly identified as such (e.g., the percentage of fetuses with Down syndrome (DS) who have a positive test result). Specificity measures the true negative rate – the proportion of actual negatives which are correctly identified as such (e.g., the percentage of fetuses who do not have Down syndrome who have a negative NIPS result for DS).

A test can have both a high sensitivity and specificity without being a good predictor of whether the condition is actually present. The likelihood that a positive test is a true positive result also depends on the incidence of the condition.

Sensitivity Graph

Genetic counselors are used to thinking about aneuploidy screening in terms of PPV, as this is generally the format for reporting maternal analyte screening such as Integrated , Quad screens, etc. Analyte screening takes into account the prior probability based on maternal age and provides a PPV as the end result. For instance, an analyte screen result may be reported as Positive with a 1 in 50 chance of Down syndrome. The PPV with analyte screening lets us know how many patients with a “positive” test will actually have a pregnancy affected with the condition and reporting results this way makes it clear that this is a screening test.

Can we apply the same interpretation to NIPS results?  Some labs provide a “risk score” which appears similar to what we see with analyte screening, but I am told by the labs that the vast majority will be reported as either >99% chance or <.01% chance.  Some labs do not report a risk score, instead giving essentially a positive or negative result. But does this mean that greater than 99% of women who receive a >99% or a positive result are actually carrying a fetus with Down syndrome or other chromosome condition?

Given that women 35 year and older are a population targeted for NIPS let me work out the expected NIPS results given the approximate sensitivities and specificities reported for a hypothetical population of 100,000 thirty-five-year old women (while I cannot tell you the specific number of women age 35 who give birth per year, CDC data suggests that for the past several years about 400,000 – 500,000 women in the age 35-39 have given birth each year in the United States – so 100,00 births annually by 35-year-old mothers is probably in the ball park of the national trend.

The performance data vary significantly from lab to lab – for the purpose of this illustration, I am using sensitivity and specificity in the range of what has been reported.  The data below are based on the chance of Trisomy 21, 18 and 13 at the time of amniocentesis for a woman 35 at time of EDD1.

Down Syndrome

Trisomy 18

Trisomy 13
Incidence

1/250

1 / 2000

1 / 5000
Affected Fetuses

400

50

20
Sensitivity

99.5%

98.0%

90.0%
Specificity

99.9%

99.6%

99.8%
Total test positives

498

449

218
True test positives

398

49

18
False positives

100

400

200
Positive Predictive Value

80%

11%

8%

If we add all of the positive results together in a population of 100,000 thirty-five-year old women we see that 1165 (1.2%) have positive test results for Trisomy 21, Trisomy 18 or Trisomy 13.  Note, though, that only 465 of these results will be true positives. This indicates that the majority of the time (greater than 60% using these statistics), a positive result on NIPS for a 35-year-old woman will be a false positive – and this doesn’t even include calculations for sex chromosome aneuploidy which some NIPS labs also screen for.

Notably, the negative predictive value for NIPS is very high indicating that a negative test result is a true negative >99% of the time. But how do we reconcile that for many women, the chance of a false positive with NIPS may be higher than the chance of a true positive result when that seems to be contradicted by way the labs are reporting the results? 

In trying to explain the chance of a false positive result to patients with a “positive” test report in hand, I have found that I am met with disbelief. I can understand why – if a test says there is a>99% chance of Down syndrome and the lab says the test has >99% sensitivity and >99% specificity, how could this test be wrong?

While genetic counselors understand the limitations, the reporting practices of the labs place us in a position in which we have to work hard to convince our patients that NIPS is only a screening test.

Currently four labs offer NIPS in the U.S. and all have different strengths and weaknesses in their reporting practices. All could be improved by making the limitations of this technology more obvious.  In some cases the language used in the reports gives the appearance that NIPS is diagnostic. For example, one company’s report suggests that the healthcare provider should advise for “additional diagnostic testing”.  The labs vary in whether the need for genetic counseling following a positive result is recommended.  Additionally there is variability in the transparency of how the performance data are derived.

Given that the performance statistics vary significantly, we need to be sure to take these details into account when considering PPV. I  encourage genetic counselors and other healthcare providers to critically look at how the performance data are derived.  The sample sizes on which these numbers are based are often quite small and the confidence intervals can be broad.  I was surprised to see in the fine print of one report that the performance data “excludes cases with evidence of fetal and/or placental mosaicism.” Given that mosaicism is a known cause of false positive results and because mosaicism cannot be definitively determined through NIPS, it doesn’t seem accurate that these cases should be excluded from calculations of test performance.

The pitfalls of interpreting NIPS results is a challenge we need to address because NIPS is increasingly taking place without the involvement of genetic counselors in pretest or post-test counseling. There is real concern that patients are making pregnancy decisions based on screening tests with the misunderstanding that NIPS is diagnostic. 

I write this as call to the NIPS labs to change their reporting practices to better emphasize the screening nature of this technology. Providing some positive predictive value estimates would be tremendously helpful as we try to make sense of NIPS results for our patients. While it may be difficult to provide individualized risk assessment, a general table of how prior probability impacts individual test performance would be beneficial for interpretation. Furthermore, eliminating language from the reports that suggests these tests are diagnostic and giving more transparency to ways in which performance data are calculated would also be welcome changes.

As genetic counselors, we strive to ensure informed decision-making for the clients we see. Key to informed decision-making is an understanding of the limitations of this evolving technology. As fellow patient advocates, I hope the genetic counseling community will join me in requesting increased accountability and responsible reporting on the part of the labs regarding NIPS.

I would like to acknowledge Evan Stoll, retired GAO data analyst for his contributions to this piece.

Please Note: Authors who contribute to The DNA Exchange cannot offer medical advice. Many commenters have raised interesting and thoughtful questions about NIPS. If you have undergone NIPS and have questions, you should meet with a certified genetic counselor. To locate a genetic counselor, go to the  Find A Genetic Counselor section of  the website of  The National Society of Genetic Counselors.

  1. Hook EB. Prevalence, risks and recurrence. In: Brock DJH, Rodeck CH, Ferguson-Smith MA, editors. Prenatal Diagnosis and Screening. Edinburgh: Churchill Livingston, 1992.

 

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by | June 27, 2013 · 9:49 AM

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.

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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.

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by | June 22, 2013 · 6:25 PM

When Numbers Do Not Tell The Tale: A Tribute To My Friend

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Holly Osman 1959-2013

There is an emotional toughness one must have, working with cancer patients.  Oncologists tend to be pretty well-armored.  You don’t, for example, expect the head of Clinical Genetic Services at Memorial Sloan-Kettering Cancer Center to get emotional when a student asks a question about surveillance after prophylactic mastectomy.  So it was a surprise when Dr. Robson paused, and raised his eyes, with a blank expression that might have been masking tears.  “I used to say no more surveillance was necessary,” he said.  “But then I had a patient who rocked my world.”

Sitting in the audience, a chill ran down my spine.  You see, I knew her too.  Not as a counselor but as a friend.  A BRCA 1 mutation ran in her family.  She had tested positive for it years earlier, so after she had her beloved Sarah and Eric she did the surgery – smiled her way through it, no problems, no complaints, no second guesses.  “No big deal,” she said, with a smile that dared you to doubt her.  She was going to get the gift her own mother was denied: a little more time.  Time to watch her kids grow up, get married, have children of their own.

It’s never an easy business telling women to cut off their healthy breasts and put themselves into an early menopause.  No matter how deeply you believe in what you are offering, these are hard conversations to have.  But it wouldn’t have been hard with Holly.  She would have smiled from ear to ear and waved away all the negatives with a flutter of her left hand.  She was brave like that, and certain.

If your prior risk of breast cancer is 85%, and a mastectomy removes 98% of the breast tissue, your posterior risk should be approximately 3%.  That’s a risk reduction of 96.5%.  Wonderful numbers — but only numbers.  Numbers didn’t matter when Holly was diagnosed with breast cancer in 2004.  Or when it came back in 2006 (stage four, incurable).  I spoke to Dr. Robson and one of the genetic counselors from MSKCC after the lecture.  “I know Holly too,” I said.  There was pain in their faces.  “She did everything right.  It’s so unfair.”

“It’s not just that,” said the counselor.  “She is the nicest person.  Whenever someone really needs support we have them talk to Holly.  She never says no.”

What can I tell you about Holly Osman?  She would not forgive me if I did not describe her as happy and successful.  A great family.  A husband who adores her.  Two wonderful kids – almost adults now.  Her daughter looks just like her, but with a hell of a lot more attitude, and Holly loved that.  She loved it when her kids were independent and she loved it when they needed her.  Her son is ridiculous: handsome, smart, poised and kind.  ‘Screw up a little,’ you want to say.  Stop making the rest of us look bad.

If I had to pick one word for Holly it would be effortless.  Some of us clean up nicely, but Holly looked great all the time, in a classic way that required no adornment. Roll her out of bed at 3 AM, and she would still be beautiful.  And effortless wasn’t just her style, it was her way of being – ask her how things were going and she said “great!”  You could try and empower her to complain a bit — good luck with that.  Holly wasn’t very interested in complaining — which was annoying for me.  I myself would have whined.  Not Holly.  Her life was SO fabulous.  Her doctors were SO great.  If you asked her about how treatment was going she would look blank for a moment, as though she didn’t remember what you were talking about.  She had this look that seemed to say, ‘Oh yes, chemo – I had forgotten.’  Did she need anything?  Could I drive carpool for her this week?  “Why?” Holly said.

She was the luckiest person in the world.  She insisted on that right until the last moment, until last Friday, the day she died, in Holly-fashion, quietly and without drama, nestled in the heart of the family she had nurtured on every level imaginable.  I don’t know; maybe she was the luckiest person in the world.  I can tell you that the rest of us left behind feel a little bit less lucky now.

She did have a lot of luck, it’s just that some of it was bad.  As a friend who happened to be a genetic counselor, I always felt a little guilty, as though we had let her down.  We counselors love the safety of numbers, of facts, of things we know.  We told her the truth, it just wasn’t her truth.  As predictive testing goes, BRCA analysis is one of the best.  It has, as we say, clinical validity and clinical utility.  Holly understood that too; even after her own diagnosis she counseled a much-adored younger sister to have the same surgery, the one that had failed to save her.  Holly’s story is not a repudiation of what we have to offer.  It is a reminder of the limitations of the fortune-teller’s art.  Percentages are true only for epidemiologists, while people live out their lives as a series of n=1 experiments.  There is an arrogance in the certainty of numbers that will always be undone by the stochastic process that is life.

Here’s how I know: I had a friend who rocked my world.

Rest in peace, Holls.  Rest in peace.

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by | June 16, 2013 · 4:50 PM

Star Power

BRCA is a hot news item these days. The SCOTUS ruling on the Myriad patent. Angeline Jolie writing in the New York Times about her experience with BRCA testing. A movie about BRCA testing starring Helen Hunt as Mary-Claire King (Hey,when they make the movie about me, they will have to get Clooney or Depp for the lead). But BRCA testing has been around for about 15 years and I have met with  thousands of patients who have gone through the decision-making process about genetic testing. For some the choice was a snap; for others it was a difficult, soul-searching affair. I eventually realized  the obvious – nobody undergoes BRCA testing until they are emotionally ready.

Public lectures, brochures, ad campaigns, podcasts, TV commercials, advertisements, physician referrals, and word of mouth all increase awareness of BRCA testing but they do not necessarily drive people to actually meet with a genetic counselor or to undergo testing. When reviewing medical records prior to a patient’s appointment, I frequently see the notation “Recommended that the patient see Bob Resta for BRCA testing” repeated multiple times over the years by different providers – radiologists, family practitioners, gynecologists, etc. Patients often need a trigger to make the appointment phone call. A cancer diagnosis pushes some patients to testing to help guide their treatment decisions, which, from a preventative public health stand point, is a significant systems failure. Many patients, particularly those who have not yet been diagnosed with cancer, need an emotional trigger – a friend diagnosed with cancer, reaching the age when a parent was diagnosed with cancer, coming to grips with the responsibilities of parenthood, or an experience that causes them to acknowledge their mortality.

These triggers have resulted in a more or less steadily increasing flow of  referrals, with occasional rises and dips that follows a pattern that is no more transparent to me than the whimsical ups and downs of the stock market. But overall cancer genetic counseling and testing is still underutilized.

And then came Angelina Jolie.

I am guessing that most cancer genetics programs were swamped with a tsunami of referrals after May 14th.  Rumor has it that  some genetic counselors have taken to saying that the AJ Panel now stands for Angelina Jolie Panel, not Ashkenazi Jewish Panel (well, not really, I just made that up, but it could be true). At my institution, I roll my own; I am the only genetic counselor in our hereditary cancer program, so the leap in patient volume has been particularly acute for me.

Wave

Initially I thought I was just a cranky old counselor complaining about a couple of busy days. But then I  compared my patient load in the 4 weeks before Angelina Jolie’s New York Times piece on May 14th  to the 4 weeks after. I grant you this is not exactly a scientific methodology, and I can think of all kinds of faults in the study design. But it probably provides a reasonable approximation of reality.

In the 4 weeks before May 14th, I met with 54 patients, almost all of whom were new patients, a typical volume for me. Twenty of those 54 visits (37%) were by patients who had a family history of  cancer, rather than having been diagnosed with  cancer. 35 patients underwent BRCA testing.

In comparison, in the 4 weeks after May 14th, there have been 90 clinic visits, a 66% increase compared to the prior 4 weeks.  58 patients underwent BRCA testing, also a 66% increase. It was not due to mini-epidemic of breast cancer in my neck of the woods (although Seattle has the highest incidence of breast cancer in the country) – 52 of those 90 visits (58%) were by healthy patients who had a family history of cancer.

Perhaps this bump in my workload was  a seasonal thing as people clear off their to-do lists before summer vacation, but I did not find similar patterns in April/May/June of 2011 or 2012. In fact, in 30 years of practice, I do not believe that my patient volume has ever risen so rapidly so quickly. It is fair to say this increase is largely due to Ms. Jolie’s revelation. Presumably this will eventually taper off. But I already have 20 patients on my schedule for the coming week.

I usually ask patients what motivated them to come in for genetic counseling at this particular time in their lives. A few patients have admitted that Ms. Jolie was their impetus for seeking genetic counseling.  But most were quick to say – sometimes without prompt – “I am not here because of Angelina Jolie. I just decided it was the right time to come in.” That may be true for some, but I suspect that downplaying the Angelina Jolie angle may reflect a bit of embarrassed denial on the part of others. All of us are influenced by influential people, which is why we call them influential. Influence, however, can be so subtly pervasive that we cannot detect its fingerprints. Just ask Don Draper.

Movie

I am not critical of Angelina Jolie’s decision to share her story. No matter how famous you are, it has to be difficult to share such an intensely personal narrative with just about every human being on earth. And her actions may very well help save lives and reduce suffering, which is what we are trying to do in medical care. To many of us, though, it seems paradoxically odd but not surprising that a movie star can play such a critical role in people’s lives. She is not a health care expert; she doesn’t even play a doctor on TV.

But as I have argued before, genetic counselors have less influence on patients than we like to believe. Medical decisions and healthcare utilization are shaped by a complex web of emotional, social, cultural, and psychological factors, many of which people are not willing to acknowledge or are even cognizant of, and which are beyond the control of genetic counselors.

If we want to better integrate genetic counseling into standard medical care, we need to move beyond a model of Healthcare Provider Education and  Referral Pamphlets  Are The Best Way To Get People Into Our Offices. We need to take a page from DTC genetic companies’ playbooks and make it less of a hassle for patients to utilize genetic counseling and testing. We need to tap into social psychology and tease out the factors that lead patient’s from their front doors to our office doors. The future of the genetic counseling profession depends on it.

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by | June 7, 2013 · 10:12 AM

Guest Post: An Education in ‘Re-identification’: Learning From the Personal Genome Project

By LEILA JAMAL, ScM

Leila Jamal is a genetic counselor in pediatric neurology and a PhD student in Bioethics and Health Policy.  The views expressed here are hers and hers only.

As many are now aware, Latanya Sweeney and her colleagues at Harvard’s Data Privacy Lab recently published a study demonstrating the individual “re-identifiability” of research participants in the Personal Genome Project (PGP).  Despite misleading news coverage overstating the proportion of individuals Sweeney’s team re-identified (using self-reported birthdates, genders, and zip codes) the study has sparked some useful discussions about the implications of ‘re-identifiability’ for genomic research and the ethics of re-identification demonstrations.  For a comprehensive roundup of these issues, I recommend reading a series of perspectives corralled by Michelle N. Meyer in her Online Re-Identification Symposium over at the Petrie-Flom Center’s Bill of Health.  This post will not match the breadth and depth of insight covered by my friends and colleagues there.   My more modest aim is to contemplate what genomic researchers and counselors can learn from the ripple effects of Sweeney’s study.

The PGP is demonstration project in its own right, with one of its goals being to “explore the opportunities, risks, and impacts of public genomics research”.   As clairvoyants who saw the pitfalls of guaranteeing anonymity to participants in whole-genome research early on, PGP founder George Church and colleagues developed a novel strategy for securing the trust of prospective participants by privileging the principle of “veracity” in their informed consent process.  Accordingly, the PGP informed consent form clearly tells prospective participants that any personal data they contribute to the PGP may be linked to their individual names.

By pursuing this strategy, the PGP nudged a shift in our thinking about the risks of genomic research.  The emphasis on veracity reflects a subordination of concern about risks to individuals posed by anonymity breeches in favor of concern about risks to genomic research posed by breeches of researcher-participant trust.   Since its inception in 2005, the PGP has reciprocated the openness of its participants by developing open-source research tools, hosting them at an annual education meeting, returning their individual research data, and keeping them abreast of the PGP’s activities with blog updates.

In light of the PGP’s emphasis on transparency and data-sharing, a key question raised in the aftermath of the Sweeney et al. study is whether participants had a “right” to be distressed – or even surprised – that their identities were (potentially) made public by a third-party demonstration project.  In a pair of symposium posts, Madeleine Ball and Misha Angrist stress that the possibility of individual participant identification from PGP data is explained thoroughly in the project’s informed consent form, pre-enrollment study guide, and ongoing correspondence with participants.  Their advice to anyone in the PGP with residual concerns about being identifiable? To refrain from sharing ‘sensitive’ data with the PGP, or to withdraw what data they can from the protocol altogether.

On the surface, these suggestions make complete sense and are consistent with the PGP’s fidelity to the principles of veracity and respect for autonomy.  Yet their bottom line makes me uncomfortable.  It reminds me of a recent meeting I attended where Johns Hopkins bioethicist Jeffrey Kahn spoke to a group of communications researchers about the ethical issues raised by using Twitter API and other internet data in public health research.   Kahn’s suggestion that mining ‘anonymous’ Twitter data (which is stamped by time and location) for health-relevant content could be upsetting or even harmful to some Twitter users was met with a common rebuttal, loosely paraphrased as follows:  “If they don’t want it used, they shouldn’t have put it out there.”

To me, this sounded like the research ethics equivalent of being told I deserve to be catcalled for wearing a skirt in the street.

Obviously, the PGP is not trying to be the street, nor is it trying to be Twitter.  Given the PGP’s specific ethos and aims, some might argue that adopting a “we told you so” approach to informed consent is sufficient to advance the project’s research aims (though I suspect not, given my wholehearted faith in the PGP’s commitment to collecting reliable phenotype data and recruiting diverse participants, not to mention departing from the status quo in research ethics.)  To its credit, the PGP has welcomed the response to Sweeney’s re-identification demonstration as a teaching moment and is soliciting feedback about how to improve its communication with participants.  The PGP’s humility moves me to consider: What are the rest of us taking for granted about research participants’ long-term views regarding secondary uses of their personal data – ‘identifiable’ or otherwise?

In her own re-identification symposium post, Meyer highlights a number of concerns I share (in case I butcher them in what follows, I encourage readers to refer directly to her original words.)  Responding to Angrist’s question about why she remains in the PGP despite misgivings over Sweeney’s findings, Meyer draws an important distinction between a) assuming the risk of individual re-identification to advance biomedical research (which she authorized) and b) providing consent for third parties to use her data with the explicit goal of determining her identity (which she did not).  At the core of Meyer’s qualm is that “choosing to share personal information when asked is different than having that information taken from you without your permission or even knowledge” [emphasis mine].  Her point is that we shouldn’t have to choose ‘both’ or ‘neither’ to participate in genomic research.

The irony of this debate is that the PGP leadership has asked its discontents to withdraw data from the protocol to mitigate their concerns over the risks of being re-identified, when the breech Meyer refers to is one of trust and shared understanding about the purposes of donating her data to research.  Aren’t trust and understanding the very dimensions of the research-participant relationship the PGP seeks to preserve with its veracious approach to informed consent?  If so, this is a critical lesson for any of us involved in biomedical research at a time of impending (we think) regulatory reform.  If such misunderstandings can surface in a cohort of scientifically literate and motivated “genomic altruists” despite a rigorous informed consent process, what does this presage for other, less thoughtful research projects in an era of genomic identifiability?  It would suggest that reforming U.S. research ethics regulations to encourage the use of more ‘open’ informed consent protocols administered at a single time point would be insufficient to respect autonomy and voluntariness in research participation.  At best.

As a member of the ethics team for Genetic Alliance’s new Registry for All Diseases [Reg4All] I follow events like these with interest and concern.   Reg4All is committed to building an inclusive, accessible research repository while honoring heterogeneous privacy preferences and facilitating participants’ control over aspects of data-sharing that matter to them.  Like the PGP, Reg4All will evolve in response to the engagement and feedback of research participants.   In order to listen to them, we must know who they are.  But once we do know, we must REALLY listen.

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by | May 8, 2013 · 12:50 PM

Bye-Bye Bi-Polar: A New Nosology for Psychiatric Disease — What Does It Mean for Genetic Counseling?

Tom Insel, director of the National Institute of Mental Health (NIMH), roiled the world of psychiatry in a blog post (how very 21st Century of him!).  The post concerned the revised Diagnostic and Statistical Manual of Mental Disorders – the DSM V, due out in a matter of weeks – and it was not a good review for the ‘bible of psychiatry’: “Unlike our definitions of ischemic heart disease, lymphoma, or AIDS, the DSM diagnoses are based on a consensus about clusters of clinical symptoms, not any objective laboratory measure.  In the rest of medicine, this would be equivalent to creating diagnostic systems based on the nature of chest pain or the quality of fever. Indeed, symptom-based diagnosis, once common in other areas of medicine, has been largely replaced in the past half century as we have understood that symptoms alone rarely indicate the best choice of treatment.”

“It’s weakness, “ said Insel, “is its lack of validity.”

Wow.  That is a pretty bad weakness.

Insel’s statement is not news to anyone who studies the genetics of psychiatric disease.  Although many psychiatric illnesses have high heritability, it is increasingly obvious that current list of diseases as defined do not line up neatly with genetic risk factors, whether those risks are established through family history or molecular testing.  A first degree relative with obsessive compulsive disease is a risk factor for Tourette’s as well as OCD; a deletion in 22q11.2 is almost equally likely to lead to a diagnosis of schizophrenia or bipolar disease.  We might think of this as overlapping genetic inheritance, but in fact it illustrates how badly our current labels function when it comes to identifying etiology.

What was news was Insel’s plan to re-orient research funding away from the diagnoses defined by the DSM and towards a new system based on biomarkers like genetic findings, gene expression and brain imaging along with categories of phenotypic information like anhedonia or psychosis without regard to diagnosis.  To this end, the NIMH has launched a campaign to establish research domain criteria (NIMH being an arm of government, it has an acronym: LDT EGAP IVDMIA RDoC).  Researchers are encouraged to base their inquires on RDoC that cut may across, or subdivide, traditional diagnostic categories.

NIMH, as virtually every article, blog or twitter post on this subject pointed out, is ‘the world’s largest funder of research on mental illness.’  That makes this a high-stakes announcement, and change of this magnitude is complicated – after all, valid or not, all the existing literature is based on these diagnostic categories.  Ongoing research is based on DSM diagnoses, as is clinical practice, billing and reimbursement.  So to some extent we are stuck with what we have, warts and all, for the time being.  Insel knows this, just as the authors of the revised DSM know that their system is flawed.  The take-home story here is not a fight between two sides, but a demarcation of a significant moment in time, as the ocean liner that is psychiatry begins a slow turn away from labels based on symptoms and towards a alternate world where diagnosis is based on biological causes, markers and measures of disease.

Someday, designations like schizophrenia or major depressive disorder may sound as quaint as rheumatism or dropsy.  For genetic counselors, it presents a dilemma in the near term.  What goes into the pedigree?  We don’t want to make it more difficult, since we know that genetic counselors are already disinclined to tackle psychiatric illness as a part of the family history.  But possibly this too is a symptom and not a cause: perhaps one reason genetic counselors are hesitant to ask about mental illness is that the associations between disease and recurrence risk are too complicated.  Because anything you can say is squishy and vague and threatening and non-specific.  Who likes that?  Not science people.

Would it be an improvement, if we recorded information about phenotype and test results as defined by RDoC?  Do we need to think about that?  Is this simply a research designation, or is it going to bleed into clinical care sooner rather than later?  I don’t have answers for these questions, but I am directing them to the wonderful and small but highly motivated cadre of genetic counselors who work primarily in psychiatric genetics (I know who you are!  No hiding).  Can you weigh in for us on what all this means for genetic counseling?

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