Category Archives: Guest Blogger

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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Guest Post: Breaking the Glass Ceiling

By HEATHER HAMPEL and DAWN LANEY

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Do you hear that sound?  It is the sound of hundreds of genetic counselors bumping their heads into the glass ceiling that our Master’s degrees can cause, particularly in academia.

For Heather, her first experience with this occurred within 2 years of graduating when she was working on a research study in colon cancer genetics.  Their collaborator did not believe she should be listed as a co-author simply because she did not have an MD or PhD.  Her boss fought for her and she got the authorship she had earned, but their collaborator’s genetic counselor was listed only in the Acknowledgements section despite her contributions to the study.

For Dawn, the thump against the glass ceiling occurred again recently when she received an email notification from a large, NIH funded, genetic disease network announcing that student trainee travel awards were being granted to their annual meeting.  Dawn wanted her genetic counseling fellow and first year genetic counseling student to attend this meeting, as they were working on relevant projects.  Sadly, a follow-up email arrived…only PhD, MD, PharmD, or other doctorate program students would qualify for travel awards.

We are genetic counselors.  That is all we ever wanted to be.  But over time, after many bumps against the ceiling, it has become clear that sometimes our Master’s degrees are holding us back.  We both considered PhD programs early on, however, we would have had to get one in a field other than genetic counseling in which we were not really interested.  Later, after having kids, buying homes, and working 40-60 hours/week, we simply could not cut down on hours or move our families in order to obtain a PhD in genetic counseling at one of the very few institutions that offer this degree.

So, it was a major transformational event when we attended an Educational Breakout Session on the Clinical Doctorate at the 2009 AEC.  Until then, we had not noticed the revolution quietly going on around us as other allied health professions were either converting to an entry-level Clinical Doctorate or adding an advanced degree Clinical Doctorate option.  This includes pharmacists (PharmD), physical therapists (DPT), audiologists (AudD), nursing (DNP), psychology (PsyD), and occupational therapists (OTD).  In fact, to our knowledge, the only allied medical profession that considered a Clinical Doctorate and decided against it are physician assistants, mainly since “both physicians and PAs practice in the domain of medicine; therefore, the entry-level doctorate for the practice of medicine is the MD or DO.”  Some of the potential pros for a Clinical Doctorate include:

  • Opportunities to advance career progression or career ladders – Of note, only 35% of genetic counselors reported being satisfied with their advancement opportunities in the 2012 National Society of Genetic Counselors Professional Status Survey,
  • Ability to obtain faculty appointments,
  • Ability to apply for grant funding
  • Ability to serve as the PI on an IRB-approved protocol
  • Increased status in the health care team
  • Address new developments – expanded knowledge base in rapidly progressing field
  • Gain ability to advance knowledge and skills in clinical practice and health care delivery

So, why not a Clinical Doctorate in Genetic Counseling – a DGC?  A specially designed, genetic counseling specific degree created for practicing genetic counselors to expand their medical and clinical research skills.  Imagine the possibility of obtaining a Clinical Doctorate through on-line, distance learning programs that can be taken in the evenings and on weekends from anywhere in the world.  Imagine getting credit toward the degree for the cases you have seen in your own practice.  Imagine courses directed at clinical-translational research.  To us, this option seems so much more accessible, affordable, and possible to do while working full-time.  We became convinced.

Originally, we thought that maybe genetic counselors should convert to an entry-level Clinical Doctorate so that we did not create a two-tiered system where some counselors had an MS and others had a DGC (To directly download a .pdf  that clarifies the distinction between entry level and advanced degree Clinical Doctorates published by the Association of Schools of Allied Health Professions, go to: http://www.asahp.org/docs/ASAHP%20re%20Clinical%20Doctorates.doc).  However, it has become clear that this would be problematic at present as some programs might have to close causing a reduction in the number of genetic counselors being trained.  In addition, it could potentially hinder licensure and reimbursement efforts.  We understand and appreciate this concern.  The last thing we want to see is a decrease in practicing genetic counselors, especially during a time when there is a great demand and need for our services.

However, this still leaves the open the possibility of the advanced degree Clinical Doctorate where those who wish to pursue the degree could do so. Just to be clear, we are not advocating for an advanced degree Clinical Doctorate instead of a PhD in genetic counseling – we are advocating for it, in addition to the PhD in genetic counseling.  We believe that there is need for both degrees as they serve different purposes and should be complementary as is the case in the nursing profession and psychology.  As to our prior concerns about a two-tiered system, we realize now that this already exists as some genetic counselors have PhDs and others do not.  In fact, this option seems to allow the most flexibility since counselors who do not want or need an advanced degree such as a Clinical Doctorate, would not need to obtain one.

So, what is the problem?  Well, it seems to us that the advanced degree Clinical Doctorate option is getting lumped in with the entry-level Clinical Doctorate and not being given due consideration.  In the survey from the Genetic Counseling Advanced Degree Task Force to the membership last month, it was difficult to respond if you support advanced degrees for genetic counselors.  The motion stated:

“A. Maintain the current standard – master’s as the sole entry-level degree/terminal degree; or

B. Move toward an entry-level clinical doctorate with elimination of the entry-level master’s degree.”

The use of the word “terminal” in option A seems to imply that there would be no opportunity for advanced degree options such as the Clinical Doctorate or PhD.  As a result, those supporting advanced degrees may have felt compelled to answer this item “B” even though they do support an entry-level Master’s degree, or to not answer at all.  In addition, the plenary session at the 2012 AEC was really focused on the entry-level CD and did not include much information about the option or impact of an advanced degree CD on the profession.

Afraid that the advanced degree Clinical Doctorate option was not being given enough consideration and that those of us who support it could not adequately convey our opinion to the Genetic Counseling Advanced Degree Task Force (GCADT) before they vote on this topic later this month, a small group of us designed a petition to offer those interested an opportunity to express their opinion:

https://www.change.org/petitions/support-an-advanced-degree-clinical-doctorate-for-genetic-counseling

Why a petition?  It seemed like the easiest way to obtain multiple signatures on a single document and much more considerate to the GCADT than an individual letter writing campaign which would have caused a barrage of e-mails or letters to members of the GCADT.  As of today, 129 individuals have signed the petition and the number continues to grow as the petition gets passed along informally from one genetic counselor to the next.  There have been many lovely responses but we’d like to share this one from a former genetic counselor in Australia:

After completing my masters at UCHSC I worked in Canada for 7 years then wanted to further my knowledge and skills. There were no advanced GC programs so instead I quit genetic counselling and returned to school to study medicine. Now a doctor, I miss genetics but will likely not return to it.

And so, as we close, we hope that the clinical doctorate, as an advanced degree, stays on the table in future discussions about advanced training for genetic counselors.  We also hope we begin to hear a new sound – the sound of us tap, tap, tapping away, trying our best to break that glass ceiling.

Heather Hampel, MS, CGC is the Associate Director of the Division of Human Genetics and Professor in the Department of Internal Medicine at The Ohio State University Comprehensive Cancer Center.  She is a former member of the Board of Directors of NSGC (Region IV Representative in 2003-4) and of ABGC (2007-2011) where she served as President in 2009 and 2010.  She received the Region IV Leadership Award from NSGC in 2006.  She works in cancer genetics and her research interests involve universal screening for Lynch syndrome.  She and Dawn Laney just met in 2012 due to their shared interest in an advanced degree Clinical Doctorate option for genetic counselors.

Dawn Laney, MS, CGC, CCRC is the Lysosomal Storage Disease Program Leader and an Instructor in the Emory University Department of Human Genetics.  She is an active member and past co-chair of the NSGC metabolic and lysosomal SIG.  Dawn has just joined the research SIG and thoroughly enjoyed attending the meeting at NSGC.  In her work life, Dawn specializes in clinical research and the lysosomal storage diseases.  She loves being a genetic counselor and finds that is entirely consistent with her long-term thirst for knowledge.  In the usual “one degree of separation” genetic counselor way, Dawn has enjoyed meeting and discussion advancement opportunities with Heather Hampel and all the other GCs pondering the topic.

Also, see a previous DNA Exchange posting about the clinical doctorate in genetic counseling.

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Guest Post: Information Detoxification

By KATIE STOLL
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.
 

I did not have a vision of motherhood from a young age. In fact, I don’t think I really even considered the idea of having kids until some unexpected biological switch flipped in me. Do you remember that scene in the 2009 Disney Pixar film, Up when Ellie and Carl are watching the clouds roll by and suddenly they all start to resemble babies? That is the way I remember feeling. It was as if out of the blue, having a baby was all I could think about.

Although this need to have a baby seemed to come from some emotional and primitive place, I wanted to be organized about my approach. I scheduled a “preconception” appointment and asked my husband about his thoughts on genetic screening. As a genetic counselor working in a prenatal setting, testing guidelines were imbedded in my mind – and I knew very well what testing options should be available to me. My husband thoughtfully asked, “If we are both carriers for cystic fibrosis or something else, does that mean that we are not going to have a baby?”

Whoa. What would we do if were both carriers??

While I am incredibly grateful that my husband was insightful enough to have asked this question, it is humbling for me to admit that it was him and not me who brought this to the table. After all, isn’t this genetic counseling 101? I realize now that while I had considered this question hypothetically many times previously, without the vision of parenthood, I did not appreciate its magnitude.

What followed were many conversations about how we felt about assisted reproductive technology and prenatal diagnosis.  We tried to imagine what it would be like to have a baby with a genetic condition or disability. What it would be like not to have a baby. These conversations were pivotal for me both personally and professionally. It was then that I truly began to realize the tremendous and complex affect these once seemingly “simple tests” may have.

Professional guidelines regarding prenatal/preconception screening emphasize the importance of informed and autonomous decision making . The listed critical components of the informed consent process often focus on statistical risks and the clinical details of the condition being screened for. Underemphasized is the importance of consideration of what this testing will mean for the individual or couple. How might a positive test affect their hopes and dreams?  How might it change their path in pregnancy?

When an individual would use results to facilitate reproductive decisions, testing can be empowering. What is sometimes overlooked in our well-intentioned goals to provide patients with knowledge however, is the potential harm and disempowerment that may result when testing information is not desired.

Currently a minority of our patients will have an abnormal test result but we must remember that the emotional impact for those individuals can be life changing. I have known many who meet abnormal or unclear results with guilt, fear and confusion.

The term “toxic knowledge” has been used to describe genetic information that individuals may regret learning, following a prenatal genetic test (Bernhardt 2012). With the flood of new testing options, I am concerned about the potential increase of toxic knowledge and how this will play out in people’s lives. How will it change the pregnancy experience?  The relationship between parent and child? The way people view themselves?

I know very well the comfort and safety that can be found in the scientific facts, procedures, clinical prognosis and statistics.  There is so much information that is important for us to convey. I write to encourage you to go a step beyond that information and to delve into the heart of what this testing may be about for the person sitting in front of you. That person may be a patient you are seeing for the very first time – it may be your spouse, your child or a dear friend.  It can be incredibly challenging to sit with someone and help them see how testing may impact their path in life, especially if that path seems very different from one you would take yourself. However, profound satisfaction may result through using your skills to support someone as they find their own way. What drew me initially to this field was a love of the science and my desire to share my knowledge with others. Although I still love this aspect of genetic counseling, what I now find most gratifying is working to advocate for the needs, hopes and dreams of the people I work with.

I imagine we have all had some personal experiences that have altered the way we practice as genetic counselors. I would love to hear your experiences and any thoughts you may have about toxic knowledge.

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Guest Post: YouTube It!

BY JUSTIN LORENTZ

Justin Lorentz is a genetic counselling student completing his second and final year of his MSc at McGill University. Before entering the world of genetic counselling he studied at the University of Waterloo and in 2010 graduated with a BSc in Molecular Biology and Biotechnology. He is a member of both the NSGC and CAGC and has been actively involved in Genetic Counselling Awareness Week since its infancy. Justin manages a Twitter account under geneharbinger which is dedicated to the field of medical genetics and genomics.

As a genetic counselling student it can be tough trying to stay on top of the seemingly exponential learning curve that marks our graduate program. In an attempt to ride this curve I find myself processing and digesting a lot of information about genetic conditions. The strategy I use to make sure this information is absorbed and retained is somewhat multidimensional in that I gather different forms of media to learn the same thing. For example I may look at Wikipedia (you do it too), I read through books, I browse through the literature, print off pictures on Google images, and I have even been known to listen to podcasts.

One day during class, the disorders under the umbrella of Limb Girdle Muscular Dystrophy (LGMD) came up and our lecturer mentioned how a patient’s gait, among many other things, can act as a clue in making a diagnosis. The lecturer was not willing to demonstrate a gait characteristic of someone with LGMD and, after mentally sifting through my usual research schema; I realized I would need to get creative if I was going to actually see this gait.

That night I went home and I typed “Limb Girdle Muscular Dystrophy” into the YouTube search bar and to my surprise I got plenty of results. The main contributor was a user named John71377 AKA John Graybill, a 34 year-old man who has LGMD type 2A. When I visited his YouTube channel here my interest was in his gait, but after watching the first 30 seconds of a video I didn’t care about that anymore. John showed me a little about his life that I would never see in a clinic or read in a textbook. As I sifted through over 30 videos of him demonstrating how he gets out of bed, goes up and down stairs, and how he stands up from a seat, I realized I would never forget about LGMD. To this day I see John when I think of this condition.

John Graybill’s YouTube channel. The current video is a demonstration and description of how John walks. On the left are his other videos that include demonstrations of how John get goes up and down stairs, rises from the ground, etc.

Comments posted in response to one of John Graybill’s videos.

I quickly realized that John’s goal in making his videos was not to show genetic counselling students how he walks; instead it was to help other people with muscular dystrophies like LGMD by sharing tips and advice about how he has overcome his limitations. In addition to his videos he advertises his website he created to raise awareness about LGMD, particularly type 2A. After looking at the comments on his channel, and then watching him on a PBS special I am confident he has been successful.

After “meeting” John, I wanted to see if there were other people who have shared their life with a genetic condition on YouTube. In a matter of seconds I “met” Jim who has myotonia congenita. He posted this video with the intention of educating the public about his condition. He shows how his body reacts when he moves rapidly and he explains how he can overcome the limitations of his condition through stretching. Then I “met” Elliot Adler, a 10 year old boy who has Charcot-Marie Tooth (CMT). With the help of his mom, he created this video raising awareness for CMT. He says that the more people who know about his feet means the better the chances of finding a cure.

Although the intentions of these videos are different, I saw similarities when I looked at the comments written about them. From what I have seen, there have always been comments from other YouTube members who could personally relate to the videos because they had a friend or relative with the same condition or because they have it themselves. Almost every comment provided support, and sometimes members would even network and share email addresses.

It is important to note that the people watching these videos are not just those who can personally relate to them. Furthermore, it is not just people with genetic conditions that are making these videos. Patient organizations such as the Canadian SADS Foundation have harnessed the power of YouTube and create videos like this one to educate the general population, spread awareness, and raise money for research.

YouTube is being used everyday as an educational tool for patient organizations, for patients with genetic conditions, and for the occasional medical genetics practitioner. It might be time for the genetic counselling community to begin thinking about whether there is a place for YouTube in their practice. YouTube videos made by organizations pose many of the same benefits and limitations as websites made by organizations. Personal YouTube videos in many ways are like personal websites, and similar disclaimers may apply if they were ever to come up in a session. But like how reading a book provides a different experience than watching a movie; viewing a website on LGMD will provide an experience that cannot be compared to seeing someone with LGMD move through their house. YouTube can be a powerful resource in this field (for better or for worse).

What information does YouTube have on your field of genetic counselling? It might be good to check it out. I bet some of your patients have done just that already.

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Guest Post: What Makes You Who You Are?

By Anne Madeo

Anne Madeo is a genetic counselor who has worked for the National Institutes of Health for the past 11 years.  The views expressed here are her own and do not necessarily represent the views of the National Institutes of Health or the U.S. Department of Health and Human Services.

A few months ago, Bob Resta mused on clients’ responses to queries about ethnicity and what they tell us about the client. A recent conversation on the Nat’l. Society of Genetic Counselors’ listserv about ancestry testing and sex verification got me thinking about a similar issue in a different light.

What defines who we are on a fundamental level? Am I a woman because I wear dresses? Am I a woman because I have two X chromosomes? Am I woman simply because I say I am and that is how I feel on a gut level? Am I a woman if I have two X chromosomes and identify as a female, but I have a point mutation in a gene that increases testosterone production but not so much that in utero or postnatally I have male external genitalia? In the final question we might say that I am clearly female. But in the case of high-level performance athletics, my increased testosterone might provide such an advantage over women with typical human female hormone production that I shouldn’t be allowed to compete as a woman. In a recent decision, the International Amateur Athletic Federation (IAAF) side-stepped the issue of determining somebody’s sex and ruled that if a woman’s androgen levels are within the range of a typical male, she will not be allowed to compete as a woman in IAAF-regulated competitions. Should we should start testing athletes for mutations that predispose them to excel at sprinting and handicap the athletes that have these alleles to make the playing field even?

What about ethnicity or race? Am I Italian-American because I celebrate the Feast of the Seven Fishes on Christmas Eve? Am I Italian American because my paternal great grandparents immigrated here from Italy? Am I Italian-American because I say I am and it is how I’ve been raised and feel? Am I Italian-American because my DNA testing demonstrates that I’m a descendant of both Michelangelo and Leonardo da Vinci? I think most students of genetics would say that no, that last idea doesn’t make me Italian-American. We’re probably all distantly related to some famous individual or the other from the past. I could be Queen Victoria or Genghis Khan’s distant relative. (I doubt many people request testing to see if they’re related to Josef Stalin.)

So, can we use genetics to determine what racial or ethnic group we belong to? Although I usually assume that people with training in molecular or clinical genetics would say no, that’s clearly not always true. The postmodern interpretation of race is that it is a social construct. We determine our race and it is determined for us through family, societal and cultural cues. So, can I identify as Native American if my maternal great great grandmother was Native American and that’s the identity my family has always embraced? It seems that some would say yes, that if your experience is Native American and that is how you identify then you are Native American. But the extreme of the post-modern argument is that I, an individual with no known to me African heritage could claim that I am African-American simply because like most Americans I likely have some African ancestry. What say those who decry postmodernism? The extreme of the position that race and ethnicity are not culturally determined but the result of ancestry is the one-drop rule and the perception that light-skinned multi-racial individuals who identify as “white” are passing.

The obvious answer to all this is that who we are is determined by a complex mix of genetics, family, cultural and individual influences. Which still leaves us with the question—how do we decide ‘who’ or ‘what’ somebody is? Or, is that the right question to ask?

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Guest Post: The Feminine Tightrope Walk

By Myra I. Roche, M.S., C.G.C.

Myra I. Roche, M.S., C.G.C. is an Associate Professor in Pediatrics, Director of Pediatric Genetic Counseling Services, and an investigator in the Center for Genomics and Society at UNC, Chapel Hill.  Her research interests include parents’ understandings of genetic information and their genetic counseling experiences following acceptance of newborn screening for fragile X syndrome.  She co-edited An Ethics Casebook for Genetic Counselors: Ethical Discourse for the Practice of Genetic Counseling, serves on the JGC editorial board, and was chair of the ABGC Certification Exam Committee.  She has worked at UNC for the past 25 years, living in the same house for the last 24.  Her favorite past-time is walking.

“Women are notoriously bad at asking for raises, and as 95% of our field is women, we have suffered the consequences.”

This statement recently appeared on the NSGC listserv with a plea for participation in a salary survey, an extremely important task for a young, thinly-populated profession like genetic counseling. What struck me hard, though, was the echo of a well-worn misconception promising a simple explanation for the pay discrepancy between the genders. The answer: women just aren’t good enough- at being men. This evaluation of women’s negotiating skills is not new and is best summed up by Professor Henry Higgins’ exasperated rhetorical question, “Why can’t a woman be more like a man?” But shouldn’t we be suspicious when righting an inequality requires the “have nots” get better at imitating the “haves”? The fault lines here are clearly drawn.

Yes, the playing (and paying) field between the genders remains uneven. Sorry to be the one to bring this up for the 15 billionth time. Currently women make, on average, 77 cents for every dollar a man makes. Analyzing salaries across genders is full of pitfalls but even after several corrections, the disparity remains (pdf). If you don’t know the facts, see this National Committee on Pay Equity Quiz.

Admonitions that women have only themselves to blame are old but the twist, “thanks for dragging me down with you”, strikes a new, blatant tone that is shocking. If women would just stiffen up their collective lips, stride into their bosses’ offices carrying their weight in unequivocal salary data to prove they are underpaid, well, what’s been stopping them? But if poor negotiating is the culprit, how can it be that women, long stereotyped as being superior wheedlers (particularly of men) to get their way, would inexplicably fail to wield these same skills when more money is the goal. Is this simply a lack of gumption?

As every good negotiator knows you have to be ready and able to walk when the answer is no. To walk, you need options. And good shoes. Women have had fewer options than men because they can become pregnant- something that was, until only an evolutionary blink ago, uncontrollable. This monthly roulette, combined with fewer educational and financial resources, left them less able to walk away because they were barefoot, pregnant, or both.

Looking up from our respective grindstones, we see that women, ages 23- 30, have, apparently, arrived. In those who are college-educated and, not accidentally, without children, we find our proof of principle. Their salaries are comparable, or even exceed, their male counterparts.

Have they figured out how to act like men? Do they have more gumption? Or, do they just have better walking shoes?

Some have argued that women are very savvy negotiators because they understand how risky it is to ignore the social costs implicit in these transactions. When shown a video of a man or a woman asking for a raise, judges of both genders agreed that, yes, certainly, the man should get a raise. But the woman, speaking from the identical script? Nope, and furthermore, we don’t like her either because she is way too pushy. For a woman. Same script, opposite decisions.

For a women wanting a raise, Henry Higgins’ advice was dead wrong. Don’t act more like a man. Act more like a (stereotypical) woman. Be warm and friendly, show more concern for others than yourself, and figure out how to make the raise your team leader’s idea, not yours. Tellingly, women’s reluctance to negotiate for higher pay occurred only when the judge was a man.

Is more money always, unequivocally, without a doubt, better? For many women the answer is clearly no. Certainly not always better than being socially ostracized otherwise what else could be stopping them? As women walk toward more money, they are, at the same time, often walking away. Away from their safety net of people who individually and collectively support them. Add in children, elderly parents, and lots of other factors and the tightrope beings to sway even more, making walking a very precarious choice.

Yes, definitely, arm yourself with all the salary data you can, stride briskly into that office, and try to convince your boss that it was her idea. I applaud your efforts even as I keep my fingers crossed. I hope you get the raise you believe will make you happier. But sometime soon, put yourself in someone else’s shoes. Maybe more money will make you happier. But for women in other shoes, the figures may add up differently. No need to shame others who have done their own math and calculated that the timing is wrong, they can’t afford to waste precious social capital or, frankly, their feet hurt. To imply that colleagues who are not actively negotiating their salary are somehow responsible for anyone’s inadequate income smacks of nothing more than just shoddy reasoning.

Acknowledgment: Thanks to Elana Jones for her insightful editorial comments.

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Breast Cancer Counseling: Personalizing Medicine Beyond BRCA Testing

This commentary is contributed as part of the guest blogger series Diverse GC Roles.

 

By Shannon Kieran

Shannon Kieran is a board-certified Genetic Counselor at Navigenics, a premier personal genome testing laboratory. Shannon’s clinical experience has encompassed a wide range of services from cancer genetics to family planning. As a Genetic Counselor at Navigenics, Shannon works with individuals and healthcare providers to educate them about genetic screening options, discuss test results, and facilitate the medical management of specific genetic predispositions. Additionally, she speaks regularly on the topics of personalized genomics, health privacy protections, and personal and clinical utility of genetic information. Her areas of research and publication have focused on cancer predisposition genetics and patient access to genetic test services.

After years of working as a traditional cancer counselor in the Bay Area, gaps in the practice of cancer genetic counseling were overwhelming me.

Patients were being declined cancer counseling unless they were deemed pre-eligible for BRCA testing, despite the fact that only 5-10% of breast cancer cases are BRCA-related.  Calls were constantly coming in from competent, caring health care providers seeking information for their patients beyond standard testing.  I knew there must be more to cancer genetics than the obvious genes and red tape.

That realization led me to take a step away from a traditional genetic counseling environment. In 2007, I took a position as one of two genetic counselors hired by the newly founded personalized genomics company, Navigenics.  Navigenics was in its infancy, but they firmly knew where they were headed —  into the realm of genetic risk assessment for common diseases including breast, colon, and prostate cancer.  Bringing genetic counselors in from the ground up was a new concept for the laboratory industry.  But this world of personalized medicine promised to help me understand the 90% of breast cancers that are NOT related to BRCA, and indeed, it has.

From 2007 to 2008, I worked with an integrated team of top-notch research and clinical scientists developing a SNP-based test panel that would illuminate individuals’ predisposition genetic markers to mutifactorial diseases.  It was the height of the genome-wide association era, and data regarding common condition genetic susceptibility was pouring out of the peer-reviewed literature weekly.  After months of reading, research, lab assay development and content creation, we launched our first service in late 2008.

Today, my colleagues and I offer SNP-based predisposition testing for a handful of cancers, including breast cancer.  Every day, I am able to counsel patients by phone about their family history, available and appropriate testing, and often, integrate their Navigenics results.  Most of the patients I talk to do not have family history consistent with a BRCA mutation, but are still deeply concerned about their cancer risk.  As recent studies have demonstrated, integrating SNP information, along with traditional breast cancer risk models such as GAIL, can improve our ability to discriminate between high and low risk women.

Perhaps even more clinically interesting is the research that has demonstrated disease sub-type SNP based risk assessment (such as estrogen receptor status.)  Finally, we are now learning that SNP assessment can inform on risk stratification for BRCA positive women, allowing the clinical team to further delineate each individual risk. Moving beyond traditional breast cancer gene testing has enabled my colleagues and I to provide all women, those with and without BRCA mutations, with risk assessment information beyond the scope of the family tree.  This is the personalized counseling I only hoped for just 4 years ago.  As a genetic counselor, being able to utilize all of the available tools and information to help my patients get a full picture of their disease risk is truly fulfilling.  Genetic counselors are poised to be the clinical leaders in the integration of these new technologies.  And thanks to my position at Navigenics, not only have I learned a great deal about building a successful business, but I have also found career fulfillment and true excitement for the future of personalized genomic medicine.

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Learning to Create Opportunity

This commentary is contributed as part of the guest blogger series Diverse GC Roles.

By Sarah Waltho, MS, CGC

Sarah Waltho received her undergraduate B.Sc. degree in Health Studies from the University of Waterloo in June 2006.  She went on to earn her Master’s Degree in Human Genetics from the Genetic Counselling Program at Sarah Lawrence College in New York in May 2009.  After graduation, Sarah worked clinically at the Victoria hospital in London, Ontario as a counsellor for prenatal, cancer, metabolic and paediatric genetic cases.  She currently works for an American-based company, GeneDx , as the company’s sole Canadian Cardiac Product Specialist, where she is based in Toronto, Ontario and travels throughout Canada.

How it all started

 After spending two amazing years studying in the Big Apple, where I earned my Master’s degree while taking in the sights and sounds of New York in my down time, I had high hopes of returning to Ontario (some would call me crazy for leaving NYC, but that’s another story) and finding a position close to home.  Unfortunately, the job prospects in Ontario were anything but optimistic in the genetic counselling field.  So, I did what many other new grads find themselves doing…covering a maternity leave.  It was a lucky move for me, I started as a prenatal genetic counselor at a hospital in London, Ontario and was given the opportunity to take on roles in the pediatric, metabolic and cancer counselling clinics; and had the supervision and mentorship of a very smart, talented and dedicated group of genetic counsellors.

As my year went on, my time in that position was running out, and I began the search for another genetic counselling job, this time hoping to find something more permanent.

I exhausted the “usual suspects” (Workopolis, CAGC, NSGC websites) and applied to the handful of genetic counselling roles that came up.  After little success, I broadened my search and happened upon a job posting for a sales role in Chicago, for GeneDx.

My first thought was: Sales? The horror!  But quickly realizing that my ideal career of a counselling job, close to home may not be in the cards for me at this point in my life, and ever-embracing the reality of a “non-traditional role”, I decided to apply.

Only 20 minutes after hitting the “send” button of my application, something unusual happened:  I received a phone call from GeneDx, specifically, from my now current boss.  He said: “Sarah, I received your application, thank you for your interest”; he went on to say, “we have actually met before, and I remember you quite well.” I was thinking this may not go so well, and I racked my brain to try to remember when we would have met.  As it turned out, I had actually stopped by the GeneDx booth at an NSGC conference in Atlanta and had a conversation with my now current boss, who remembered our encounter (this may also have had to do with the fact that I took quite a few of their cute zebra giveaways!) He went on to say that I gave a lasting impression and they always appreciate hearing feedback from genetic counsellors.  After noticing that my resume had a Canadian address, he asked if I would be interested in an opportunity working out of Toronto (which was ideal!) and the rest is history.

Day to day life

So that brings me to today.  I am now the Canadian representative for GeneDx, specifically, their Cardiac Product Specialist.  I give presentations to both cardiology and genetic clinics, and play a vital role in keeping clinics current on test offerings and offering support and a resource for counsellors.  About half of my time involves travel (mostly across Canada, but also to the US).  I have the unique opportunity to be involved in the ever-evolving field of cardiac genetics, which has proved to be fascinating.

I originally had a few reservations about leaving the clinical world, especially so early on in my career. I was afraid I would not feel fulfilled in my role, that I may fall out of date, or that I would not be able to return to clinical role if I decided to.   I also feared I would feel some stigma from the field of genetic counseling.

As it turns out, I truly feel satisfied in my current career path and the position I hold.  Being actively involved as a patient advocate, though I no longer provide clinical counselling, my job works to bring genetics and cardiology together.

Working to support genetic counsellors and bringing feedback from the field to the laboratory has also been rewarding and helps keep me current in the field (as does my seemingly never-ending studying for Board exams…) I feel empowered and enlightened by being exposed to the laboratory and business side of genetic counselling and realize that this experience can only add to a genetic counsellor’s already broad skill set.

I have also felt that my role has been well received by both the cardiology and genetic counselling fields. GeneDx has been supportive of my role; they have hired many genetic counsellors into non-traditional roles.

Things I’ve learned

Taking on a “non-traditional role”…or, as I prefer, a term I recently heard in the field, a “diversified” genetic counselling role, has been a fulfilling and dynamic experience.

I feel that a genetic counsellor is an ideal fit for this type of work.  Having both an understanding of clinical/testing process, and a solid background in genetics, I am able to respond to feedback and support counsellors in the field, and work to fill any gaps, or provide genetic education to physicians.

Advice/closing comments

I can’t stress enough the importance of networking.  I wouldn’t be in the incredible position I am today if I hadn’t taken the time to attend the NSGC and stopped to speak with the people at the GeneDx booth.  So my advice to new grads or any genetic counsellor looking to expand his/her role, is to network, make contacts, get your name out there, see what other positions and career opportunities are out there, and broaden your job search criteria.  Networking at a conference is an especially unique opportunity to learn about what is going on in the field and meet new people in a relaxed climate.

My clinical work experience also proved invaluable, and I think that having some clinical experience after graduating is beneficial before taking on a non-traditional role.  It allowed me to practice things I learned throughout my training, and really allowed me to gain a better understanding of how a genetics clinic is organized and an appreciation for the role of genetic counsellors.

Genetics as a field is growing and developing in non-traditional ways, and it makes sense that the genetic counselling profession would evolve along a parallel path.  As genetic testing advances, the process and understanding becomes that much more complex.  Having genetic counsellors working outside their traditional roles, ensures we will have well informed professionals in these new areas of growth, that benefits not only doctors and counsellors, but also patients and families.

I really look forward to reading the other guest blogs this week, and I thank the DNA Exchange for giving me the opportunity to share my story.

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Starting Something New After 30 Years

This commentary is contributed as part of the guest blogger series Diverse GC Roles.

 

By Vickie Venne, MS

Vickie Venne, MS, is a licensed genetic counselor with Genomic Medicine Services of the Department of Veterans Affairs. Prior to joining the Genomic Medicine Service, she was Research Associate at Huntsman Cancer Institute. Ms. Venne is also actively involved in the National Society of Genetic Counselors, participating on many committees, task forces, and the editorial board of the Journal of Genetic Counseling, in addition to serving as President in 1995/6. In addition to numerous manuscripts and chapters, she has co-authored a book about genetics for the general public: The Genome Book: a Must-Have Guide to your DNA for Maximum Health.

Last month, after over 30 years as a genetic counselor, I accepted the challenge to develop and implement a new and exciting program with the Department of Veteran Affairs. I plan on it being my final career move and see it as the culmination of the variety of positions I have held over the years.

For the last 15 years, I have been at Huntsman Cancer Institute in a position that relied generally on grant funding. The largest research project was the Breast Cancer Family Registry, which allowed me to counsel and annually follow several generations of high risk families. It was an amazing privilege in a world when genetic counselors often don’t have the opportunity to provide long-term follow-up.

But by 2010, grant funding and the research focus was changing. I wanted to stay in Salt Lake, but there aren’t many positions available for someone with my experience. I graduated from Sarah Lawrence in 1978 and my career has been varied, and unique in that I have created every one of my five previous positions. Some were traditional, such as pediatric and prenatal clinics, when in the 1980s, those services were still being developed. In 1988, I became one of the first genetic counselors to work in a commercial molecular laboratory. So I considered using this experience to develop a role in other adult onset clinics, such as diabetes or ophthalmology.

Meanwhile, unbeknownst to me, in 2006, the Department of Veterans Affairs was developing a Genomic Medicine Program with the expectation of having both a research and a clinical arm. Larry Meyer, MD, PhD, was named Director of the Genomic Medicine Service, the clinical arm. From a home base in Salt Lake City, a staff of 6 to 15 genetic counselors would provide education and consultations to both providers and patients throughout the country. How perfect.

I applied. Last month, I became the first licensed genetic counselor hired by the VA specifically to provide clinical services. There are other genetic counselors in the VA, but are part of research protocols or are contracted. This month, we hired our second genetic counselor, with plans to add more.

Locally, we will provide traditional face-to-face counseling. For the 153 other VA hospitals around the country: welcome to telehealth. The VA is adding telehealth infrastructure into every single VA hospital and community facility across the country. This will allow our staff to offer high quality genetic counseling and testing via real-time video conferencing and phone consultations to our nation’s Veterans.

Not that some aren’t already receiving care, but it is sporadic. The Genomic Medicine Service will allow for a consistent, nationally-available service that coordinates with local primary care providers. I suspect we will have the chance to work with genetic counselors outside of the VA system who provide services to individual Veterans.

What do my new days look like?  Thankfully, I know genetics, because the rest is new!

  • learning a new electronic medical record system and creating templates for requesting consults/chart notes/letters/follow-up
  • considering which data to enter into what type of database
  • preparing for ongoing performance evaluations
  • creating genetic content sheets for the clinicians as well as the patients.

As for the ‘genre’ of our clinic… There will be two different ways in which we will provide service.  First, we will respond to individual consults, which I suspect will span the adult condition spectrum, from diabetes to cancer to ophthalmology, and as the number of female Veterans grows, include prenatal diagnosis. There are already experts in these specialty areas available to the VA. Our job is to find those experts and develop national collaborations so Veterans across the country can obtain a consistent, high quality genetic service.

Secondly, we will also actively introduce genetic services that are ready for prime time, starting with Lynch screening. In the coming year, we will implement a protocol such that every Veteran with colorectal cancer will have the tumor processed for screening that may ultimately identify between 100 and 200 individuals annually with Lynch syndrome.

I took this position because of the professional opportunity, and it seemed the culmination of my experiences. And, I get to stay in Salt Lake. I can maintain my current friendships and add new colleagues to my life. I was initially nervous about leaving the comfort of a position I had been in for 15 years, but in this past month, have found that I absolutely love the challenge of learning something brand new. It has also been fun to reconnect with colleagues who I have met over the years and will work with in a new capacity. I would encourage all genetic counselors – both senior and new to the field – to explore ways in which their variety of skills can be used to augment or develop new programs.

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Wherever You Go, There You Are

This commentary is contributed as part of the guest blogger series Diverse GC Roles.

 

By Amelia Chappelle, MA, MS

Amelia Chappelle graduated from Sarah Lawrence College in 2007 with a dual masters degrees in Human Genetics and Health Advocacy. Upon graduation, she joined Genetic Alliance, a nonprofit health advocacy organization, and oversaw the Access to Credible Resources Network project and Genetic Alliance resources and services. In November 2010, Amelia moved from Washington, DC to her hometown of Seattle, WA to manage research projects at the University of Washington in the areas of preventing and disclosing medical errors. Amelia continues to work part-time with Genetic Alliance and is enjoying splitting her professional time between both organizations.

Even during graduate school, I supposed I was what the field of genetic counseling calls “nontraditional.” Although at the time, I wasn’t necessarily thinking of what position I would hold in the field as much as following what naturally interested me. During the first semester of human genetics classes at Sarah Lawrence, I kept hearing about the courses the Health Advocacy program students were taking. They seemed so complementary to my current courses, and in my second semester in the human genetics program, I added some health advocacy classes. Yes, “busy” doesn’t begin to describe it. As both were two-year programs, I smooshed them into three years and completed two summer internships (that combined requirements for both programs). Looking back, what I was yearning for was an understanding of the larger system in which genetic counselors practice. I wanted to better understand health economics, health politics, illness narratives- a single genetic counseling session doesn’t happen in a vacuum, and I wanted a better grasp on that messy, complicated bigger picture.

During graduate school, I heard about a nonprofit called Genetic Alliance, and upon learning more, I knew I found a place for me. Genetic Alliance so closely mirrored my interests (and degrees)- an organization that is the voice of advocacy in genetics. I was drawn to the scope of the mission, addressing health and genetics from the perspective of individuals and families but also from a larger systemic view. I applied for a position that I was in no way qualified for (five years of experience in project management? Ummm…), and somehow got an interview. While I was being a bit ambitious, it turns out Genetic Alliance was as well. They hired me and another employee, without having a direct line of funding for my position. Just goes to show- if you’re passionate about an organization, a cause, a position, a project, take a chance! You just never know. I worked full-time for Genetic Alliance for three and a half years, grew as a person, and gained an extremely wide range of skills and experience.

Although I enjoyed my 11-year stint on the East Coast, I felt a pull back to my Pacific Northwest home grow stronger and stronger with every passing season. In November 2010, I took a position at the University of Washington as a research coordinator. It was a full-time position, but I negotiated a 32 hour/week position in order to maintain an 8 hour/week stint working remotely for Genetic Alliance.

At first I thought it was a bit strange that I was taking a job that doesn’t directly have anything to do with genetics, but when I actually got down to the work, it doesn’t feel odd at all. My research team’s work all revolves around medical errors and adverse events- how to reduce them and how to handle them appropriately when they happen. While I’m not talking about genetics every day, the topics I do encounter every day are extremely familiar: empathy, truth-telling, sincerity, accurate and situational appropriate communication skills, an understanding of both the individual and the system’s role, the list goes on. The job skills are also familiar, thanks to my training and years at Genetic Alliance: project management, time management, relational skills, communication skills, supervisory skills, organizational skills, business savvy, flexibility, creativity, and patience.

I think two unique aspects that make genetic counselors poised to excel in any number of positions are the abilities to make complex topics easy to understand and to empathize with others. Those two skills are applicable to so many professions- and situations throughout life. If I’ve learned anything throughout my (humbly short) career, it’s to take a chance, go after what you want, and it just might happen!

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