Category Archives: Robert Resta

Why “H.R.3235 The Access To Genetic Counselors Services Act” Makes ACMG Feel Threatened By Genetic Counselors (Again)

In the  United States, genetic counseling services are typically delivered by masters level genetic counselors. Yet Medicare, the largest health insurer in the US, does not recognize genetic counselors as reimbursable providers. No health professional is better qualified to provide genetic counseling than a genetic counselor. Absurdly, then, Medicare’s policy assures that the service is covered ONLY if it is provided by mostly unqualified health professionals. It boggles the mind.

But this could change if Congress passes H.R.3235 – the Access to Genetic Counselor Services Act, along with whatever version winds up in the Senate. This bipartisan bill would allow appropriately certified genetic counselors to be covered by Medicare and to order genetic tests as local licensure permits. The bill has broad support in the medical community. Even the AMA has stated they will not oppose the bill.

So why in God’s name has the American College of Medical Genetics and Genomics (ACMG), the primary professional organization of MD clinical geneticists, made the bone-headed decision to come out against this bill, even when many genetic counselors are members of ACMG? ACMG claims that they would support the bill only if genetic counselors are not allowed to order genetic tests. This is an untenable position, especially in light of the abundance of data demonstrating that genetic counselors not only are savvy about ordering tests but having them involved in the process results in significant cost-savings and increases the accuracy of test interpretation. I might add that there are virtually no equivalent data demonstrating that clinical geneticists bring equal value and expertise to the ordering and interpretation of genetic tests. They probably do but, hey, show me the numbers. Furthermore, the anti-genetic counselor position is contrary to ACMG’s Vision and Mission to “to facilitate the delivery of quality clinical and laboratory medical services to patients and their families…” It’s hard to facilitate testing if  the country’s largest group of genetics providers are excluded from ordering genetic tests (there are roughly 2-3 times as many certified genetic counselors as there are certified clinical geneticists).

I suspect that ACMG’s position stems from both historical and economic factors. The relationship between masters level genetic counselors and clinical geneticists has a complicated 50 year history. When the first genetic counseling graduates entered the job market in the 1970s they were likely to be employed in a Medical Genetics department where they were supervised by a clinical geneticist. Not uncommonly, genetic counselors were viewed by clinical geneticists as lower echelon providers who more or less served as “doctors’ helpers.” Indeed, back then many clinical geneticists argued that genetic counselors shouldn’t even be allowed to call themselves genetic counselors because in their view only physicians should serve in that role. They wanted to wall off genetic counselors from meaningful clinical practice and call them Genetic Associates.  There was also more than a hint of underlying sexism. Most clinical geneticists at the time were older males and 95% of genetic counselors were bright young females – those “girls” just weren’t good enough to do “real” medical genetics. The two professions, though, were in a symbiotic relationship; it would have been nearly impossible to run a large genetics clinic without the labor of genetic counselors or clinical geneticists. One profession could not live and thrive without the other.

With the wider availability of prenatal testing in the 1980s, many genetic counselors found employment in prenatal diagnosis clinics, which were usually run by obstetricians rather than clinical geneticists. Genetic counselors gained a greater sense of independence and professional confidence serving as the genetics experts in these new settings. This expansion of genetic counseling employment beyond traditional genetics clinics was further stimulated by advances in genetic testing for more common conditions like cancer and cardiac disorders in the 1990s. Genetic counselors were not gonna’ work on Maggie’s Farm no more whereas clinical geneticists pretty much kept themselves down on the farm.

As I have described previously, this came to a head in the early 1990s when the then American Board of Medical Genetics petitioned the American Board of Medical Specialties to create an American College of Medical Genetics. This move would serve to increase the prestige and potentially improve reimbursement of clinical geneticists’ services. The American Board of Medical Specialties agreed to do so – but only if masters level genetic counselors were not part of the deal. This resulted in very bitter debates between genetic counselors and clinical geneticists. I have vivid memories of some disagreeable and uncomfortable, uh, discussions at national and local meetings. One clinical geneticist told me at the time that the separation would mark the end of the genetic counseling profession (boy, was he wrong). Ultimately, with the thoughtful but firm guiding hand of the leaders of the National Society of Genetic Counselors, genetic counselors agreed to secede from ABMG. It turned out to be the best thing that ever happened to the genetic counseling profession. Genetic counselors and clinical geneticists thereafter still maintained a professional relationship; after all, many of them worked together. But professionally speaking, genetic counselors pretty much left clinical geneticists in the dust and clinical geneticists are still struggling to catch up. Most genetic counseling and ordering of genetic testing gets accomplished without any input from a clinical geneticist and it gets done quite well, thank you very much.

Incidentally, I would like to remind everyone that  in the 1980s, when the American Board of Medical Genetics administered certification exams to both genetic counselors and clinical geneticists, all candidates need to pass two exams – a general exam that everyone took demonstrating overall knowledge of medical genetics and then a separate subspecialty exam each for genetic counselors and clinical geneticists. In most years that the exam was administered, genetic counselors had higher average scores and pass rates on the general exam than clinical geneticists did. So don’t talk to be me about questioning the competence of genetic counselors.

Economically, clinical geneticists are struggling to survive. Salaries are low and recruitment for fellowships is a struggle. Clinics are understaffed and wait times for an appointment in a genetics clinic can be as long as a year. Worse than running in place, they are losing ground. Thus, AMCG’s position on H.R.3235 gives the appearance of a desperate attempt to protect its shrinking economic and professional turf.

This is not 1980 and there aren’t any Genetic Associates anymore. Genetic counselors are damned good at providing genetic counseling and ordering and interpreting genetic testing. Genetic counselors know their limits; they aren’t looking to perform medical procedures, admit patients to hospitals, prescribe medications and other treatments, or undertake a comprehensive dysmorphology exam. In fact, in many states, local licensure laws already allow genetic counselors to order genetic tests if the patient has a private insurer or Medicaid (but not if the patient is covered by Medicare). I am not aware of any data suggesting that this has negatively affected the practice of clinical geneticists. It’s just made it easier for patients to access genetic testing, simplified navigation of the tortuous pathways patients must go through to obtain insurance coverage for testing, and helped assure that test results will be properly interpreted and integrated into the patient’s health care strategy.

But neither ACMG nor genetic counselors own genetic testing. Most clinicians, regardless of specialty, can order a genetic test. Heck, consumers can order tests themselves online, if they are so inclined. ACMG needs to better serve its membership and patients by adapting to a changing world and developing a different clinical and economic service delivery model. Opposition to H.R.3235 does not help patients, genetic counselors, or, if they cling to a dated view of medical practice, clinical geneticists themselves. ACMG must support H.R.3235 and recognize that genetic counselors play a critical role in the delivery of medical genetics services and testing.

 


You can contact your local congressional representative to express personal or organizational support fo H.R.3235.


Thanks again to Emily Singh for help with graphics.

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What Can I Say?

I like doing crossword puzzles with their mix of trivia and clever word play. I will never win any contests, but I am a competent puzzler (I prefer the term puzzler to it’s more high falutin’ cousins, cruciverbalist and engimatologist). Sometimes a devilish clue will stump me because it leads my mind to a very narrow interpretation of it. I have found a helpful strategy to solving the clue is to give it some benign neglect. If I let my mind stray to other things and then come back to 23-Down, the cobwebs will have fallen and in a slap-the-forehead moment the answer pops into my head. One way of distracting myself is to let my eyes wander across the newspaper page. As it happens, crossword puzzles are often on or near the same page as Advice Columnists and I find myself reading those letters from people seeking help with their woeful life situations. I am usually impressed by the counseling and psychological insights offered by the columnists and often find myself wondering what my response would be to the letter-writers (and I find myself singing the lyrics to John Prine’s wry song “Dear Abby“).

Last Saturday when I was stuck on trying to remember the city where Aga Khan’s mausoleum is located, I turned to reading “Ask Amy,” Amy Dickinson’s advice column. Although Amy did not supply me with the answer to the puzzle clue (Aswan, along the Nile in Egypt, for those of you who are also puzzlers), my attention was grabbed by a letter to Amy from – a genetic counselor. The counselor, who has chosen not to have children, asked Amy how best to respond to clients’ questions about whether the counselor has children and what decision she would make for her own child. The counselor also related a story about a recent couple who believed that the quality of care provided by their physician was compromised by that provider being childless.

My first thought was “Such questions play on our professional and personal insecurities. This genetic counselor might have been better served by peer or one-on-one supervision.” Supervision is an important part of professional growth. Although there are a few genetic counseling supervision groups, they are not particularly common, perhaps because there is no strong genetic counselor cultural tradition for them or professional requirements to participate in one. To some extent, the NSGC sponsored listservs – or Forums, as they are now called – sometimes serve that role but it’s not exactly the same thing.

My second reaction was I guess that’s a question a chatbot wouldn’t have to deal with. As Siri might say, “I am not sure that I understand that question.”

My third thought was “What would I say to that counselor if she posed the question to me?” If you are in a clinical position, no doubt you have encountered similar questions about your personal life. Before I was married, I remember the not uncommon occurrence of counseling a single parent pregnant woman who came to the session with her mother and afterwards the mother asking me on the sly “You’re such a nice a young man. Are you married?”

It is impossible for us to mirror all of our clients’ characteristics, experiences, and life situations. We can’t be all things to all people.  In fact, one might argue that being too similar to our clients can result in counter-transference issues that can negatively affect the quality of our counseling. A counselor can be too empathic; sometimes the ways that we are different from our clients can give us a less biased outlook on a family’s issues.

I was not particularly happy with Amy’s advice to the genetic counselor, which was to say to the couple “We’re not here to talk about me. We’re here to talk about you. Let’s focus on your case, OK?” I think it unhelpfully dismisses the couples’ concerns. It may be what the counselor is thinking but in my view that’s not how it should be verbalized or managed. I can think of a few alternative responses, depending upon the specifics of the situation:

  • “I appreciate your concerns and understand why you think a parental perspective might be helpful. But in my role with you, I am a counseling professional, not a parent. I have years of experience and professional training in working with couples in your position. My clients, whether or not they have children, often tell me how much they appreciate my expertise and insight. So I think that I can help you in meaningful ways. After meeting with me, you might want to talk to your friends and family members who have children to get their perspectives too.”
  • “You mentioned that you want your care providers to be parents – why do you think you feel this way? As we go through this session, let me know when you think a parental perspective would be important to the issue at hand and let’s see if we can figure out why my not being a parent might matter.”
  • “Some patients have raised this with me before. For many of them, it turned out that my perspective as a non-parent actually gave them a better understanding of their situation and helped them make what they felt to be a better decision. Let’s see if we can work together on this.”
  • “I don’t have children. But I listen very closely to my patients, and I have learned a lot from them about the issues and feelings that parents face. I think you can benefit from the many insights that my patients have shared with me.”

There are no doubt other ways to respond to these patient requests for self-disclosure and you may think my suggestions are inadequate. More than one research article has been written about how much counselors should share with patients about their professional lives and how they manage such questions. In the spirit of on-line peer supervision, I would like to hear from the Good Readers of The DNA Exchange about how they would have responded to the Ask Amy letter and how they handle questions from patients that probe counselors’ personal lives.

Patients are ongoing puzzles that we must continually work on solving, whether we are beginners or graying veterans. Some of the clues they give us have obvious answers, while others are more layered and complicated. The solution for one patient’s situation may not work for the next patient puzzle. All of us need to remain open to the help and perspectives of our peers and colleagues. We cannot grow if we engage in benign neglect.

 

 

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Genetic Counselor Reinvented

I have a confession to make. Now that I am half way through my 60s – not exactly elderly, but too old to die young – I have become increasingly insecure about my relevance to the field of genetic counseling. My ethos, counseling style, and knowledge base are still anchored in the previous century. My anxieties are heightened by practicing in a field dominated by young, very bright, highly trained people. I fret that I am viewed by my colleagues with bemused, grandfatherly respect and not as a key player who is relevant to the practice of genetic counseling or to the many exciting pathways that the profession is pursuing. Call it fear of being thought of as a vetus crepitu (Old Fart sounds so much better in Latin).

Then too there are the demands of employers to see ever more patients, the promise/threat of artificial intelligence to replace/supplement genetic counselors, and increasing demands to access genetic counseling through means other than a brick-and-mortar face-to-face interaction. It’s enough to make me want to call it quits and enter a peaceful retirement where my stressful decisions will be “Should I sleep another hour?” or ” Which show should I binge-watch – all 5 seasons of ‘The Wire’ or ‘Breaking Bad’?” Omar, Stringer Bell, Mr. White, Leonel and Marco Salamanco (“The Cousins”), Gustavo – I hardly knew ye and heartily miss ye.

I was mulling over these thoughts and insecurities the other day when I had an Aha! Eureka! Fall-Off-My-Ass moment that will revitalize my moribund career and make me the envy of genetic counselors of all ages. I have 36+ years of experience with more than 20,ooo patients and a shopping bag full of clever counseling phrases (“Families can be complicated sometimes.” Pause, look directly at the client, and give a slight , knowing, supportive nod of the head. or “There’s no need to rush into making a decision about genetic testing in your situation. Testing  is important  – pause an extra beat to focus attention on the next words – but not urgent.”). I have parlayed this experience into an e-asset by reinventing myself as a biotechnochimaera of a genetic counselor and a chatbot. Ecce – ChatBob!

Deciding to become ChatBob wasn’t exactly brain surgery. Well, actually, it was brain surgery. My cousin, a brain surgeon, and my niece, a computer whiz, worked together to implant a variety of neuronanochips, teeny-tiny receivers, micro-routers, and other itty-bitty doodads into my cerebral cortex and other important sections of my brain. Anyone with an internet connection can now access my brain for the purposes of genetic counseling. The microrouters and neuronanochips allow multiple people to simultaneously  access my CNS. I don’t know how that stuff works; my niece explained it to me but I didn’t really understand a word she said. But I don’t have to understand how it works because it does it’s job automatically.

Okay, the external portion of the hardware is a bit, uh, geeky but, hey, it’s the beta-version. Undoubtedly some product designer from Apple will eventually turn it into a fashion statement that will make even the hippest hipsters suffer a serious case of cool-envy.

Because I have been a genetic counselor for so many years I have heard every possible question and because I can do it in my sleep, patients in any time zone have access to ChatBob 24/7. The neuro-computer connections hook up to a deeply embedded part of my unconscious mind so I am usually unaware that a counseling session is even taking place (admittedly, that sometimes used to happen when I saw patients in person too). I can binge watch whatever television series I am in the mood for while the Counseling and Education Center of my brain – the striatum bovis stercis – subliminally and simultaneously counsels dozens of patients. Labs download test results directly into my brain which then sends a message to patients’ computers so they can immediately access their reports and my clinical interpretation.

I am in great demand by laboratories and hospitals wanting to free themselves of the burden of the salaries of multiple genetic counselors. I can be easily integrated into Epic or any other electronic health records platform. Researchers looking to allow people from all demographics to have easy access to genetic counseling in research projects are pounding on my e-door. ChatBob is a researcher’s dream because all the counseling is done by one counselor so they don’t have to control for counselor variability in skill, experience, or style. ChatBob is scalable to a population level;  hey All of Us , why not take All of Me? Telegenetic counseling startups are pleading with me to replace their entire staff.  I’ve had inquiries from Google wondering if they can implant advertisements in my brain for products related to patients’ genetic test results.

There have been some mishaps and a few crossed wires. These have mostly been the result of my cousin being a disbarred neurosurgeon (one of the disconcerting things about being awake during neurosurgery is that you can hear the surgeon say “Oops” in the middle of the procedure) and because my niece, being a teenager, has more important things to pay attention to than the details of her uncle’s neurocircuitry. So occasionally when a patient asks a dumb question the reptilian part of my brain overrides my Counseling Center and responds with something like “What a dope. Weren’t you paying attention to what I just neurotransmitted? I’ve already said twice that daughters can inherit a BRCA1 mutation from their fathers and that genes absolutely cannot skip generations.” A few patients have managed to integrate themselves into some of my dreams. It made for some awkward moments when a couple of patients managed to tap into the primal portions of my brain that house my implicit biases, fantasies, fears, and unfiltered thoughts. But hey, that’s to be expected in the pioneering stages of any world-changing technology. Kind of like Alexa “inadvertently” listening to your private conversations. Employers are not troubled by these occasional mishaps because all they care about is that I am counseling high volumes of patients and saving them oodles of money.

I don’t recommend other genetic counselors biotechnoconverting to ChatBob because I want all the business and I want to have the best presentations at national meetings. Plus, it is kind of a permanent thing, so you can’t just back out after using it for 90 days or whatever. And you have to do lots of explaining to skeptical TSA workers at airport security checkpoints. But these are small sacrifices to make in order to stay in front of the genetic counseling peloton. I will be seeing you in my rearview mirror for the next 10 years.


Thanks to Emily Singh for realizing the ChatBob graphic

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Sometimes I Wish I Wasn’t Right, Especially When I Am Being Ridiculous

So it goes

So it goes

So it goes

So it goes

But where it’s goin’ no one knows.

And So It Goes by Nick Lowe (1976)

Nearly ten years ago I wrote a DNA Exchange piece, “GeeKnowType – The Unique Gene Boutique,” an absurdist skewering of some of the DNA test offerings of direct-to-consumer labs. My online emporium offered imaginary testing for characteristics such as the clearly hereditary but mirror-obvious like eye color as well as traits that would be best described as “genetic,” such as sexual preference. I used dark humor to illustrate important points about the misuse and misunderstanding of genetic information. By the way, I know that nowadays we are supposed to call it “consumer-initiated testing” but it’s hard decide who really initiates testing when consumers are bombarded with over-hyped targeted advertising based on their viewing history or after watching disarmingly charming television commercials filled with story-telling about the power of genetic testing. “Personal, powerful, and perfectly priced,” as one website describes it. And if you believe that advertising does not influence your spending choices, well then that’s just proof of how well it works. Any con man will tell you that the easiest people to con are those who believe they are too clever to be duped.

Alas, I must report that fact has now robbed my fiction of its falsehood. All the absurd tests, or reasonable facsimiles of them, that I conjured up at the beginning of the decade are now commercially available at the end of the decade. Below I’ve reproduced part of my original posting along with links to vendors that now offer a real version of my imaginary tests.

M-eye Color©: Everyone thinks your eyes are brown, but you swear they are hazel. Who’s right? Only your eye color genes know for sure.

Update: Eye color is now often included as part of a package, so you really don’t have much choice about whether you actually want the information. And this “harmless” test has entered the creepy realm – preimplantation genetic testing  can be used to choose an embryo that has the most desirable eye color. God help us.

SwitchHitter©: Am I right-handed or left-handed? Do I have situs inversus or just a poor sense of direction? With the powerful awareness of your genetic handedness, your cilia will always beat in the right direction.

Update: Not offered directly by vendors that I am aware of, but SNPs for handedness are available and could potentially be accessed by downloading raw DNA results to a third party interpreter.

MyGeneColor©: What is your favorite color? Cerulean? Or is it really a cool shade of pinky-purple? Busy people don’t have time to recall these details. No worry – MyGeneColor will find out for you. You will never again be at a loss, whether you are painting your walls or painting your nails.

Update: This site makes the claim, among others, that DNA ancestry testing indicated that “African heritage generated rich, warm color palettes.” An extraordinarily genetically and culturally complex continent reduced to a few stereotypical hues. Oy.

GeneSequins©: How chic is your fashion sense? The Human Genome Project has proven that your Hip Quotient is genetically determined. We recommend that GeneSequins be run along with our RightWeigh and MyGeneColor products to give you a complete picture of your personal style.

Update: See the same site mentioned in above discussion about color preferences. British ancestry or an aptitude for math (!) suggested a preference for a plaid print crossed with geometric lines. Or read about it in the International Journal of Clothing Science and Technology.

 

RightWeigh©: Your scale says you are overweight, but you know you cannot weigh that much. In fact, research has shown that scales tell us more about our parentage than our eating habits. With your true genetic weight, you will no longer be a slave to unreliable scales that invariably add pounds to your real weight. Say good riddance to diet and exercise!

Update: You can choose between a more “authoritative” test from a reputable lab or from your basic shop-for-it-all site. Or even discover your “true” waist size. There’s clearly something unscientific about how clothing manufacturers are measuring so-called slim waists.

WhichWay©: Not sure if your sexual preference runs to men, women, or both? Ask your genes and they will tell.

Update: As thoughtfully critiqued on The DNA Exchange by genetic counselor Austin McKittrick, there’s an app for that, called 122 Shades of Gray.

 

WellRead©: How do you know which authors you like? More importantly, which ones do you actually understand? Should you be reading The New Yorker or People, James Bond or James Joyce?  Let us read your genes so you can read genetically appropriate literature – and save money on unnecessary magazine subscriptions.

Update: Okay, not exactly the same thing but this site claims it is possible to predict your genetic “word reading ability.”

Now don’t misread me, unless of course you have “inferior” word reading ability. It’s not that I am a stuck-in-the-2oth-century old school genetic counselor who thinks that DTC testing is the Eleventh Plague to scourge mankind (well, to be honest, most of the time I’m not that curmudgeonly). DTC offers the potential for a wide range of people who could benefit from genetic testing that has real clinical value. But when all tests, regardless of validity, carry the imprimatur of DNA, how are consumers supposed to distinguish the sensible from the nonsense?

In a parting note, less than 2 years ago I posted another satirical piece called “Sour Grapes: A Tragicomic Dystopia in The Consumer Genomics Counseling Space,” about an imaginary near future in which virtual home assistants arrange genomic testing and then offer to sell consumer and medical products based on DNA analysis. Well, sad to say, in a Moore’s Law type of “progress,” the gap between my predictions and their actualization has shortened to less than 2 years. 23Mofang, a Chinese DTC company, now offers specific skin care products based on a genetic predilection to saggy skin. I am starting to understand why seers and prophets are often portrayed as tragically shunned characters. I think I am going to get out of the predictive satire business.

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All For BRCA, BRCA For All?

Should all women undergo BRCA testing? This question has been an item for discussion once it was given the authoritative weight of Mary-Claire King, the widely respected genetics researcher who has made invaluable contributions to the discovery and elucidation of the BRCA genes. The appeal is clear. Under current protocols, many women at increased risk of carrying a pathogenic variant are not undergoing BRCA testing. It breaks my heart each time I meet with a 40 year old mother of young children who was just diagnosed with a preventible serous epithelial ovarian cancer or a triple negative breast cancer. Furthermore, a significant number of pathogenic variant carriers are missed by just about every set of testing guidelines. Not only that, guidelines are so complex, evolving, and variable that no one can keep track of them any more, except maybe the unsung  heroes among the support staff at commercial laboratories who are tasked with verifying insurance coverage for genetic testing all day every day. I half-jokingly tell my oncology colleagues at tumor boards that my new criteria for genetic testing are are simple: 1) Does the patient have cancer? 2) Does the patient have genes?

I understand the appeal of population BRCA screening. Risk mitigation strategies and enhanced screening have the potential to reduce morbidity and mortality, or, more simply put, it could reduce suffering and saves lives. This benefit looms particularly large in the face of that sly and nasty devil, fallopian tube/ovarian cancer. But the benefits – and I don’t mean to diminish them – can lead us to subconsciously overstate upsides and downplay downsides. As Guido Calabresi and Philip Bobbitt pointed out more than 40 years ago, allocating medical care is full of tragic choices, i.e., no matter what course of action we choose, some people will suffer and some people will benefit. The hard part is deciding who should benefit and who should suffer. Let me be clear, though, that if BRCA population screening were to be implemented, I hope that my concerns prove to be unfounded or are addressed up front.

So what are my worries? First off, I am not convinced that population BRCA screening is high on the list of public health priorities in the US. It doesn’t make the CDC’s list of pressing public health initiatives. About 100 million Americans are affected with one or more neurological diseases. According to the USDA, in 2018 about 37 million Americans lived in food-insecure households, including 6 million children. Eight hundred thousand Americans will have a stroke this year. Half a million Americans struggle with homelessness. About 380,000 children are born prematurelyForty thousand people die from a gun shot each year.

In comparison, my back of the napkin calculations suggest that of the approximately 42,000 breast cancer deaths and 14,000 ovarian cancer deaths in the US each year, roughly  5% of breast cancer patients and 15-20% of ovarian cancer patients carry a BRCA mutation (I am not including other high risk breast cancer related genes such as PALB2 and TP53, but their inclusion would not substantively change the calculations). This would amount to theoretically saving about 5000 lives annually. This rough estimate is based on the very unlikely assumptions of full population participation in both genetic testing and follow up cancer screening and risk reducing strategies, and that these strategies save lives. While the evidence is pretty good that risk-reducing saplingo-oophorectomy reduces ovarian cancer mortality in unaffected BRCA mutation carriers, the mortality/morbidity reduction benefit of combined mammography and breast MRI is less well established. Risk-reducing mastectomy significantly reduces breast cancer risk and disease and treatment morbidity but the mortality reduction is not as great as one would hope, especially as a woman gets older. And many healthy BRCA pathogenic variant carriers delay or decline mastectomy. At most, about half of unaffected BRCA pathogenic variant carriers undergo risk-reducing mastectomy.

Would the resources devoted to  saving lives through population BRCA screening justify a reduction in allocation of resources to other far more common health problems or disparities within cancer care itself, such as racial and economic differences in access to care, morbidity, and mortality? Of course, numbers are not the only deciding factor for resource allocation, which is ultimately an ethical decision that society arrives at in a somewhat unpredictable and disorganized fashion. On the other hand, those numbers cannot be ignored. Population BRCA screening may prove to be cost-effective but that does not necessarily mean it would be the best use of limited health care dollars and resources. It is not exactly a zero sum game, but no matter how you slice and dice it, all health care problems cannot be covered with even the most generous allocation of resources. Eliminating the hundreds of billions of wasted health care dollars in the US might start to address resource limitations, but, realistically, drastic reductions in unnecessary spending are not likely to happen any time in the near future nor is it guaranteed that the saved dollars would be reapportioned to other areas of health care. Which lives “deserve” to be saved and which diseases “deserve” to be prevented? Tragic choices, indeed.

Then too there is the problem of health insurance, or, more precisely, the lack of it. BRCA testing on a population scale would presumably lower the cost of genetic analysis to affordable levels and labs would likely absorb the costs of those who can’t pay (or at least would figure it into their pricing). However, it is in the follow up of mutation carriers where the annual costs start to pile up. Annual mammography and breast MRI, mastectomy, reconstructive surgery, and salpingo-oophorectomy would not likely be available to the ~14% of the US population who lack health insurance, with even higher rates of non-insurance among young women, the very population who theoretically would benefit the most from BRCA testing. Yes, the cost of treating those women for cancer is much greater than the cost of screening and risk-reducing surgery, but if the women do not have the financial wherewithal to pay for surgery and screening then those interventions just aren’t going to happen. Before we even think too hard about implementing population BRCA screening, the national health insurance crisis must first be addressed. BRCA screening could unintentionally result in further health disparities for low income women.

Even among women identified at high risk of developing breast cancer and who have health insurance, uptake of MRI screening is low even in facilities where MRI screening is available, with some demographic variability in uptake. Thus, innovative efforts are needed to improve outreach, education, and motivation to participate in semi-annual screening that would likely last for decades. In addition, if population BRCA screening becomes a reality, more MRI machines will need to be purchased, more radiologists will need training if they don’t routinely read breast MRI images, and more surgeons will be needed to perform mastectomy and reconstruction. A commitment to BRCA screening requires a lot more resources than just increasing the availability of genetic testing.

I admit that I am a professional worrier, and maybe all of my concerns are just another expression of my character flaws. No doubt many of the Good Readers of The DNA Exchange will have strong differences of opinion with me. I want to save lives and avoid cancer treatments just as much as the next person, and maybe even more so than many others after having spent two plus decades watching women and their families go through the nasty physical and existentially threatening experience of chemotherapy, disfiguring surgery, radiation therapy, and dying all too young. On the other hand, there are many more people suffering from other serious and potentially preventible health problems. Are they less worthy? Tragic choices are so…..tragic.

 

” And tell me how does God choose,

Whose prayers does he refuse?”

– Tom Waits, “The Day After Tomorrow”

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Vocab Rehab

Our word choices in speech and writing are often reflexive rather than reflective. Some words become so engrained into our vocabulary that we use them out of habit rather than after careful consideration. We think we are communicating clearly because everybody “knows” what a particular word means so we don’t pause to consider what the word might really mean or suggest. This can be particularly true of professional vocabulary, wherein we are inculcated with a set of specialized terms and word choices early in our training that are later reinforced throughout our careers by journal articles, books, and at educational meetings.

Even the rhythm and meter of spoken language can silently work their way into professional oral presentations. The next time you attend a multi-day conference pay attention to how the speakers at the end of the conference may unconsciously repeat the speech patterns of the speakers from the previous days. I first noticed this phenomenon about 10 years ago at an annual genetic counseling education conference during which a few speakers at the beginning of the conference frequently used a high-rising terminal (i.e., a rise in pitch at the end of a sentence). By the last day of the meeting it seemed like every speaker was raising their pitch at the end of too many sentences and it was starting to drive me crazy (I’ve since adapted). The “right” way to speak or write is the one that we encounter most often and most recently by respected members of our professional and social circles.

Reflexive vocabulary usage can sometimes mislead or confuse. Let me offer two examples of  vocabulary used by – but not unique to – the medical genetics community that in my view need some reconsidering and revision: whole exome/genome sequencing and gender neutral pronouns (for related discussions, see my prior postings about the words “psychosocial.” and “mutation“).

Whole Genome/Whole Exome Sequencing – These are inaccurate and misleading terms. The descriptor “whole” suggests that the entire genome or the entire exome is being sequenced. In fact, the analysis usually includes a lot of the genome or a lot of the exome – but not the entirety of either.  They don’t quite go the whole nine yards. The limits of some “whole” techniques and platforms become even more salient when you understand that they may not reliably detect some of the most common DNA-based disorders such as Down syndrome, fragile X syndrome, and alpha-thalassemia. I suggest that we drop the word “whole” and simply call it genome sequencing or exome sequencing, a practice I’ve already seen in some journal articles. But it should include a descriptor that indicates which technology was used to sequence the genome – short read, long read, optical mapping, etc. Each has its strengths and limitations and knowing which technique was used informs us as to which conditions are reliably or unreliably detected.

Incidentally, genome was coined (as genom) in 1920 by the German botanist Hans Winkler. Until the discovery that most DNA was non-coding, the word genome implied the sum of an organism’s genes. Now that we know that only a smidgen of an organism’s DNA are genes as we understand them today, the 20th century sense of genome does not align with the current sense of genome that refers to the entirety of an organism’s coding and non-coding DNA. Exome, on the other hand,  arose out of 21st century technology. The earliest article I could find in PubMed that used exome in it’s title or abstract was a 2008 publication about J. Craig Venter’s exome (Venter was the senior author).

Gender Neutral Pronouns and Verb Agreement – I wholeheartedly support the use of gender neutral or third gender pronouns in English, even if I think a few of them like zie, zir, and ver will not likely catch on. The vagaries of language evolution could ultimately prove me wrong but no matter how conscientious and respectful you try to be, these neologisms entail learning new words that have no clear etymology to guide the user or listener as to their meaning. However, pronouns such as “they” or “them” as a singular subjective or objective pronoun or “their” as a singular possessive pronoun have gained more linguistic traction. These pronouns have historical usage as a a singular form. Take the sentence I wonder who left their mobile phone on their seat in the auditorium? Whoever it is, they are not going to be happy when they realize it. “They” is a pronoun substitute for the singular “that person.” This sentence would have been perfectly clear and acceptable in just about all English dialects well before gender neutral pronouns became a subject of debate and discussion. Further, “they” and “them” do not have a linguistic history of denoting a specific gender.

My question, though, is not about which pronouns will survive the test of time but rather which verb form to use with that pronoun. Does it call for the plural or the singular verb form, as in “They are” or “They is?” I vote for “They is.”

I confess to being a bit of a fanatic about the arcana of grammar and syntax, but I am not a language tyrant. Language evolves so quickly that the “rules” desperately try to keep up with usage. Good writers instinctively know the rules and then go about flaunting and manipulating them. I am not trying to be snobbishly picky when I raise the question of pronoun/verb agreement. There are two important issues raised by verb choice in this situation, one of meaning and one of value judgment. “They is” clearly communicates the meaning of one, and only one, person rather than a group of people. The value judgment implied by using the singular verb  is implicit acceptance and acknowledgment of the person’s choice to not identify as being of male, female, or any gender. The slightly jarring effect of hearing a singular verb follow a typically plural pronoun makes “they” stand out in the sentence. It’s not just any old use of “they.” It’s a special case that reflects and honors the desires of that person.

Yeah, I know. “They is” just sounds plain wrong. But it only sounds wrong because we are used to having heard it another way for our entire lives. If the singular verb is used more frequently and consistently, the dissonance will fade. I remember the endless discussions about whether one should use a singular or plural verb with the word “data.” Now, it’s like Who Cares? “Date are” and “Data is” both now sound equally fine and either form is considered acceptable by most authoritative usage guides. Rule-obsessed grammarians can argue all they want; the rest of us just get on with our linguistic lives.

No doubt some of you will disagree with my suggestions. So I open up the discussion to the Good Readers. What do you think? And is there other vocabulary that needs reconsidering and discussion?

 

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How Much Is That DNA Test In The Window, The One With The Waggely Price?

The recent stories about Medicare fraud and genetic testing have been pretty awful. Taking advantage of older people in order to scam the government…. well, what can you say? There’s a cheater born every minute and they are doing their best, or, really, their worst, to turn honest people into feeling like suckers.

Moral outrage aside, the stories got me to thinking about how unsure I am about the costs of genetic testing and how it gets billed to patients and insurers. Important point – I am not suggesting that reputable labs are flimflammers or hucksters. I am forever grateful to labs for their efforts in working with patients’ health insurers to determine coverage. I understand that pricing structure and billing are complicated even for professionals who spend their whole life doing it. Labs should make as much legitimate profit as they can. Sometimes the eligibility and testing guidelines are not so clear. I was born – but not yesterday.*  I just don’t know how it gets done and how the rules and regulations are navigated, at least in my narrow world of cancer genetics, though I suspect it is a problem in other specialties too. I’ve tried to become an informed user but it is a dense subject.  I feel as clueless as Buzz Lightyear (or, as Woody sometimes calls him, Buzz Light Beer). Genetics is easy in comparison. So I have questions.

I understand that each lab negotiates prices with each private health insurer and that the specifics are sort of Top Secret. But why are the negotiated prices for essentially the same test so different for each lab and insurer? Surely insurers are not so incompetent that they don’t realize this. They too are looking to be as profitable as they can be. All else being equal, shouldn’t insurers negotiate about the same price with Labs A, B, and C?  And if Lab D doesn’t like the price, well tough on them and they can be  relegated to the dreaded status of  “nonpreferred lab.”

Then there’s Medicare. Medicare rules vary a bit by region and are potentially negotiable in particular instances. But Medicare guidelines make it clear that usually patients must have a diagnosis such as breast or ovarian cancers (and in some situations also need to meet family history criteria) for testing to be covered. Some labs will not bill Medicare for patients who do not meet criteria and charge patients an out of pocket amount consistent with what they would have charged Medicare if it was a covered service. Other labs will bill Medicare and appear to eat whatever Medicare does not cover. Is it all a matter of different interpretations of ambiguous bureaucratic wording? And is it an illegal inducement if a lab offers free genetic counseling along with testing?

When insurance is bypassed and  a patient pays out of pocket how is it that the charge to the patient for more or less the same gene panel across labs can range from $250 to ~$2,000? Depending on which lab you use, patients can even get a panel for fifty bucks if they are “fortunate” enough to have a pathogenic variant segregating in their family. Or the patient at risk for a specific familial pathogenic variant could get the gene in question sequenced, but not a panel, for free, if testing is ordered within 90 days of the relative’s test. Or that same patient could just be tested for the specific variant and pay around $400-$500 out of pocket. If you have prostate cancer, or certain other genetic conditions, you can get a panel test at no charge because the testing is “sponsored” by a separate lab, usually from Pharma, with whom de-identified data may be shared (is it still possible to deidentify DNA anymore?).

I am all for removing financial and other barriers to genetic testing and counseling. I work hard at making sure my patients pay the lowest possible price for a quality test. I understand the need for research and cooperation between labs to develop new treatments. And it can be cut-throat competition out there where everyone’s trying to hack off a big chunk of market share. For sure, many of these issues are symptoms of the crazy health care system and spending in the US. At the same time, I wonder whether my pursuit of making sure that my patients  get coverage for their genetic testing is blinding me to problems with billing and charging. I do not want to cross any ethical or legal lines and I don’t want put my patients in financial jeopardy.

Perhaps the Good Readers of this blog are willing to share their insights and stories. Please don’t name names or try to vilify a particular lab; keep it de-identified. We can air it out collegially and constructively.


  • – I admit that I stole this great line from Season 2 of the Showtime series The Chi.

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