p + q = Solved, Being the True Story of How the Chromosome Got Its Name

A few weeks ago I discussed different stories we have come to tell about the origins of the convention of using “p” and “q” to identify the chromosomal short and long arms, respectively (L’histoire de p et q: Urban Legends of Cytogenetics). That posting created quite a bit of discussion, particularly on the Cytogenetics Listserv. Several cytogenetics colleagues forwarded a comment from their listserv that should stand as the definitive story of how p & q became established as official cytogenetic nomenclature.

The True Version was related by someone who was in the room when the decision was made. In my previous post I alluded to the Battle of Hastings. That imagery was apparently not far off from the truth; one conference attendee reported that at times the session seemed like World War 2 1/2. As I had suspected, the 1966 Chicago Conference* was the scene of the crime. The suspects included some important figures in the history of medical genetics: Klaus Patau, Jérôme Lejeune, and Lionel Penrose.

Klaus Patau first described the clinical and cytogenetic basis of trisomy 13 in 1960, along with his wife Eeva Therman (the Finnish cytogeneticist who was sometimes called Mrs. X Chromosome), the great dysmorphologist Dave Smith, and two other authors. Patau originally worked at Germany’s Kaiser Wilhelm Institute and then went on to a long and illustrious career at the University of Wisconsin at Madison.

France’s Jérôme Jean Louis Marie Lejeune is known for his lifelong devotion to the study and care of people with Down syndrome. He was a devout Catholic and a friend and advisor to Pope John Paul II. In 1959, Lejeune, along with Raymond Turpin and Marthe Gautier, were the first to report the underlying cytogenetics of Down syndrome. Gautier, a physician who worked in Turpin’s laboratory at the Centre National de la Recherche Scientifique in Paris, first thought of the idea to karyotype a patient with Down syndrome patient and noted the presence of an extra chromosome in the cells cultured from a skin biopsy.  Lejeune identified the culprit as the twenty-first chromosome. Decades before, several scientists had suggested that Down syndrome might have a cytogenetic basis, including Petrus Waardenburg, Guido Fanconi, and Lionel Penrose, but the technology was not available at the time to test the theory.

Lionel Penrose, the longtime Galton Chair at the Galton Laboratory at University College London, was one of those great polymaths that England seems to be a breeding ground for. He was a psychiatrist, chess master, mathematician, medical geneticist, and, among other things, proposed a method (now called Penrose’s Law) for fairly allocating votes among countries in international organizations like the UN. He statistically established the association between advancing maternal age and an increased risk of Down syndrome.

Back in Chicago, the nomenclature session lasted many hours. Initially, “s” and “l” were recommended for the chromosomal short and long arms. Patau countered with “k” for kurz (German for “short”). Lejeune strongly argued for “p” for petite. This was followed by arguments about naming the long arm, with the concern that “l” could easily be confused for the number 1. In the wee hours of the morning, Penrose entered the room, wanting to know why the session had not yet ended. After hearing about the difficulties, he offered p & q because they were linguistically neutral, and because p + q = 1, evoking the idea that a short arm and a long arm together make one whole unit.

So it turns out that the True Story is closest to Version 4, what I labeled The Hardy-Weinberg version in my earlier post, but it also contains elements of Version 1 (The French Connection) and Version 2 (Francophones vs. Anglophones). Alas and alack, Version 3 (The NY Typesetter’s Error) appears to have no basis in truth, though it is still a good story. Interestingly, the results of the Voting Poll in my previous posting indicated that most people thought The French Connection was the correct story (garnering about 62% of the 211 votes cast by April 30th), whereas the Hardy-Weinberg story came in a distant third at about 11%, with The Francophones vs. The Anglophones attracting 19%, and the New York Typesetter’s Error coming in last with about 8% of the vote.

I guess that when it comes to history, there’s no such thing as The Truth, only distorted versions of it that over time become mistaken for the real thing. Of course, what is really interesting about history is not The Truth so much as the fact that we need to tell stories about our past, and those stories reflect complex personal, psychological, educational, and sociological factors.

* – Chicago Conference (1966): Standardization in Human Cytogenetics: Birth Defects. Original Article Series, Vol 2, No 2, New York, The National Foundation (1966).

Thank you to my colleagues from the Cytogenetics Listserv for forwarding the communication, and to the many readers of the DNA Exchange who took the time vote on The True Story and share their own stories.


Filed under Robert Resta

L’histoire de p et q: Urban Myths of Cytogenetics

Karyotypes are sooooo 20th century. Time was when a ripe crop of G-banded chromosomes promised a fruitful harvest of genetic secrets. But nowadays a Giemsa-stained karyotype seems like a quaint low resolution black and white TV set – those cute little D & G groups even have rabbit-ear antennas – compared with the bright, sexy colors of FISH, the fine oligonucleotide detail of microarrays, and the dense volumes of data of generated by high throughput DNA sequencing.

But before all that trypsin, calf serum, and Giemsa stain sails off in a T-25 culture flask to navigate the seas of our mythic memories, some cytogenetic stories need to be told. The tale I want to relate started with an email from Debbie Collins, one of our Kansas City genetic counseling colleagues.

“I went to a lecture today,” Debbie’s email began, “and learned how the chromosome’s short and long arms came to be called p & q.” She then related a story that was completely different than what I had always held to be true.

Debbie’s email got me into a Rudyard Kipling frame of mind. Just how did the chromosome get its name? As it turns out, probably neither Debbie’s story nor my story is true. I searched for the “real” answer in standard genetics textbooks and PubMed, but to no avail. So I unscientifically queried geneticists and cytogeneticists of various stripes and ages about how they thought “p” & “q” came to be the official chromosomal designations. Here are their stories, with annotations by me:

1)    The French Connection. This was the most popular version in my unofficial survey.  In this story, “p” stands for petite, the French word for “short.” The long arm came to be called “q” because “q” follows “p” in the alphabet. But that seems inconsistent. Why would one chromosomal arm be named after a word and the other arm named after a letter? It would be more logical to call the long arm “g” for grande, French for “big” or “large.”

2)    Francophones vs. Anglophones. In this version, the French in fact wanted to go avec “p” et “g”. Mais l’English speaking contingent objected to the French conquering the entire chromosome, apparently still harboring some nationalistic resentment nine centuries after The Norman Conquest. The Anglophones held out for “q” because, they claimed, “q” follows “p” (see The French Connection above). But really “q” appears English and also had the quality of making “p” evoke English rather than French. Even though it gave the appearance of a civilized linguistic compromise in which both sides got to name half of a chromosome, victoire pour les Anglais. Hastings avenged!

3)    The New York Typesetter’s Error. This is the version Debbie Collins related to me. The 1971 Paris conferees recommended “p” and “g” á la petite et grande. The nomenclature was reported in 1972 in Birth Defects: Original Article Series, which was published in New York City. A mythical typesetter inadvertently confused “g” for “q”.  The mistake was noticed after the issue had gone to press, too late for correction.

Great story, which caters to our stereotypes of New Yorkers’ penchant for giving language a unique twist. Sadly, though, it is not likely true. First off, I’ve never met a cytogeneticist who was not pathologically detail-oriented, and there is no way they would ever let an error like that get beyond the earliest stages. But more tellingly, although the Paris Conference indeed recommended “p” and “q”, these designations were in use at least 5 years before the 1971 meeting.

4)    The Hardy-Weinberg Equilbrium. As one source quoted to me, all geneticists know that p + q = 1. This has nice poetic and historical resonance . But it sounds too pat to be true. Somehow, I can’t imagine a sober-minded committee thinking this up, and then everyone agreeing to it (or perhaps they weren’t sober). Besides, what does cytogenetics have to do with the Hardy-Weinberg Law?

After spending an inordinate amount of time on PubMed, I think that I have narrowed down the start of the p/q story to the Chicago Conference in 1966, also published in Birth Defects: Original Article Series (I have to admit, though, that I have been unable to obtain a copy of this publication. If anybody is willing to send me an electronic or print copy, I would be forever indebted). The 1960 Denver Conference, by the way, makes no reference to “p” & “q.”

Which story do you think is true?  History is essentially the stories about our past that we have come to believe to be true. So let us choose our history systematically and democratically, rather than leaving it to the confabulations of story tellers or the biased views of the powerful. We can create the truth by popular vote, rather than simply relying on bothersome facts. Use the polling box below to vote for your favorite story so we can settle on the official History of Chromosome Nomenclature. Please, no stuffing the ballot box to ensure that your favorite theory wins; I have ways of finding this out and I will hunt you down. It would also be fun to hear other theories that I may have overlooked, so please use the Comments section to add to the list of Urban Legends of Cytogenetics.

See the follow-up to this posting on the DNA Exchange: “p+q = Solved, Being The True Story of How the Chromosome Got Its Name.”

Thanks to Debbie Collins, Alex Minna Stern, and Nathaniel Comfort for helpful discussions.


Filed under Robert Resta

Behind the scenes decision-making: Choosing labs

GeneTests currently lists 593 laboratories testing for 2,305 diseases —  2,040 clinically based and 265 research based. Check out their chart of lab and test growth over the years 1993-2009.

With this exponential growth of labs and tests with various panels offering different sensitivities for different conditions, how does one choose a lab and how does one choose certain panels over others? In my primarily prenatal role in an academic university hospital, genetic testing is very accessible to my patients as there is patient interest, insurance coverage, and private monies to really make it happen. So, access is no longer the primary issue I deal with and the patients look to me as their genetic counselor to determine which lab offers “the best” test that is most up-to-date. How quickly do we modify what we offer? How does your center choose and vet which labs to use?

Labs are always sending out notices of new panels, sending representatives to educate us about their tests. But, how quickly do you start offering a new panel once you have been educated about it?

Here are some things I think seem to dictate how I choose a lab, in no particular order:

1. What is the sensitivity and specificity of the test?

2. Does the lab provide pre-verification of insurance benefits?

3. Is the customer service accessible and available to strategize regarding the testing plan i.e. are there genetic counselors and laboratory directors that I can speak with?

4. Does this lab have a great deal of experience working with this gene or disease?

5.  How quickly do they report their results? Will they expedite prenatal cases?

6. Is the format of their reports accessible?

7. Do they have educational materials about their tests for providers? For patients?

8. Are there logistical shipping issues/costs?

9. For NYS, do I need a permit?

All these things weigh differently in every case, depending on the needs of the patient. But, patients do not always know what is out there or what they need – it can become our job to make the best laboratory choices to fit their needs. Sometimes, this is a challenge for me. And sometimes, I feel like a laboratory sales representative.

It seems to me that if we do not offer a test, it essentially does not exist to a patient. Sometimes patients do not know they want a test out there simply because they do not know about it.

So, when a new panel of tests comes out, how does your center decide what to offer the patients? Is there a departmental debate? Does it have to meet certain internal requirements?

When faced with a handful of lab options sequencing the same gene, how do you chose the lab?

Please share you thoughts and strategies regarding this. I am truly very curious.


Filed under Jessica Giordano

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

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

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

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

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

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

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

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


Filed under Laura Hercher

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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