Tag Archives: Genetic counseling

I Am Curious (About Yellow)

Race is  a particularly salient issue in the current US national discourse. The horror of the shootings at the African Methodist Episcopal Church in Charleston, South Carolina and the controversy around the validity of the claims of an apparently white-skinned woman who identifies as black are but two contemporary examples of the controversial and often ugly history of racial classifications, the racial lexicon, and race relations. Perhaps this is why I was particularly struck by a sentence that I recently chanced upon in an article about the heritability of esophageal cancer: This meta-analysis showed there was a significantly [sic] association between PLCE1 rs2274223 polymorphism and esophageal cancer in yellow race populations [bold not in original]. 

Graphic by Emily Singh

Yellow Race. It has been a long time since I have seen that term in any medical or professional literature other than when I am rooting around in the history of eugenics. In our supposedly enlightened times such terminology is the same kind of bad as Brown Race and Red Race. I am not implying that this marks a resurgence in racism against Asians or a renaissance of racial hierarchies. Indeed, encountering yellow race in these articles was remarkable precisely because of its rarity nowadays.

The authors of the article have East Asian names, and the journal is published in Asia, so I assume that yellow race was not intended to be a racist slur or an ironic appropriation of a pejorative term by the very people it was meant to belittle. The racial vocabulary in this instance most likely stems from the nuanced and sometimes awkward complexities of language translation, cultural differences, and the regretful disappearance of copy editors from journal publishing houses (note the grammatical error in the quoted sentence from the abstract, using an adverb where an adjective is called for). A quick PubMed search yielded several other articles that used the term yellow race; the authors were invariably from countries where English is not the primary language. Not all articles were authored by East Asians; one had Brazilian authors. Several articles were from journals published in non-Asian countries, such as The Saudi Medical Journal,  Human Reproduction (Oxford) and Obesity Surgery, published by Springer, the mothership of the Journal of Genetic Counseling.

Putting aside the contentious debate about the biological reality of race and the appropriateness of using racial classifications in medical, biological and governmental analyses, I am intrigued by the question of why some race-based terms are socially acceptable and why others are condemned. You can use black or white when referring to race without too much eyebrow raising, but not yellow, red, or brown. Some skin color-based vocabulary has been replaced by apparently less offensive ethnic or geography-based but no less vague names like Hispanic or Asian. True, African-American and Western European are also common, but black and white appear at least as frequently in medical, biological, and popular publications. Even the federal government’s  Census Bureau and the annual National Vital Statistics Reports on annual births in the US use black and white to racially categorize mothers. Imagine the uproar if these official reports classified Asians as yellow, Native Americans as red, and Hispanics as brown.

US Census Bureau 2010 Racial Classifications

 

I have been stewing on this for a few weeks, trying to come up with an explanation. Does it stem from some complicated sociohistorical narrative about the forced immigration of slaves from Africa to the US, compared to the relatively more voluntary immigration to the US from other continents? Is it somehow related to the continuing social effects of slavery, which was not experienced by other immigrants (not to imply that other groups did not experience other forms of abuse and prejudice)? Greater social inequities among blacks in a society where whites are the power group and other groups are “in between” whites and blacks on the social hierarchy? An unstated and perhaps unconscious belief that the two groups are biologically different? The result of conflating race and ethnicity and lack of a clear distinction between race and ethnicity? The shortcomings and biases inherent in any scheme that tries to parse the continuous spectrum of humanity into discrete biological categories? The inconsistent ways that people self-identify their ancestry (see my posting about ancestry in the context of genetic counseling)?

Mostly, though, these sound like half-baked explanations. Perhaps it is just a stochastic linguistic persistence with no underlying rational explanation. Aluminum foil is still often called tin foil even though it hasn’t been made from tin since World War II (of course, aluminum – or aluminium, outside of the US and Canada – foil is less emotionally charged and socially complex than racial terminology).

Really, though, I don’t have a good answer. But I am interested to hear what the Good Readers of this blog have to say about it.

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Can You Put A Rush On That? The Ethics of Triaging Test Results

“Please hurry my test results. This is very important information for me.” It makes me wince every time I hear it. And genetic counselors hear it often. There are times when I don’t want to answer my phone because I know it is going to be that patient calling yet again, or the spouse, or the physician, demanding Results! NOW! The request is perfectly understandable. The patient is drowning in anxiety, desperate for a lifesaver. Sanity overboard! Please rescue me from this turbulent sea and please, please do it before I go under. Some desperate patients have even offered cash under the table to grease the wheels. Your heart goes out to them and you want to do whatever is superhumanly possible to help. It wreaks havoc on a genetic counselor’s compassion center.

How should we respond to such pleas? There is the standard reply “Your results are critical and we will do everything possible to ensure that you receive them as soon as possible.” But that response begs more questions – How quickly will the results come back? What concrete steps will you take to ensure that happens? Who decides?

To a large extent, turnaround times are dictated by factors beyond anyone’s control. Cultured cells grow at their own rates, no matter how much voodoo powder we sprinkle into the culture medium or whatever sacrifices we make to propitiate Anaphasia, the goddess of mitosis (I swear that culture times are directly proportional to patient anxiety – the greater the anxiety, the longer the culture time). Amniotic fluid cultures are forever generating random Insane Clone Posses, which prolongs analysis time. New technologies like NextGen sequencing often identify unusual variants that need to be sorted through before deciding if they are the real deal or not. Thus, suggesting to patients that we will hurry their results  is being dishonest when we know full well that we have limited control over the process.

And don’t get me started on giving preliminary results to a patient. This should just about never be done. There are good reasons why labs don’t call out results until they have been thoroughly checked and rechecked. Anything less than an absolutely certain result does not do patients any favors whatsoever. A rushed result is a useless result, and only gets you a reservation at Heartbreak Hotel. “Uh, did I say that preliminary result was normal? Well, um, now that we have completed the analysis….”

Graphic by Emily Singh

But in some situations it is possible to nudge along a test result. Usually this means analyzing the sample out of sequence. Instead of First Come, First Served, it’s Most Anxious, First Served. So who is Rush Worthy?

There are a few situations wherein most of us would agree that speed if of the essence, where a matter of days is critical. A patient who has a highly suspicious ultrasound and undergoes amnio at 20 weeks or later, awfully close to the 24 week termination cutoff for a patient considering this option. Patients with a history of suicide attempts or suicidal ideation. In the NICU, on a case by case basis. In oncology, perhaps patients with cancer who are trying to make treatment decisions like mastectomy or colectomy deserve some precedence over unaffected patients for whom surgical time pressures are less critical. But even there, which woman with breast cancer is more important than the others? Just about every patient wants that cancer out yesterday, even though for most patients waiting several weeks or more doesn’t change prognosis. Should the criterion be clinical stage? Nottingham score? High grade vs. low grade DCIS? Triple negatives? Trying to figure this out, as Rev Tevye sings, “would cross a rabbi’s eyes.”

There are some cases where it is never ethical to leapfrog the results line. Putting a co-worker, friend, or relative at the head of the queue. Giving special consideration to celebrities, physicians or their spouses, politicians, or people of great wealth or power. The patient going on vacation and who would like results back soon so that the vacation “can be enjoyed.” Labs offering to charge more in return for a quicker turn around time (unless it was ethically justifiable in a particular situation and it resulted in extra lab costs). Wrong, wrong, wrong, wrong. Always.

Really, though,  ethical justification for analyzing a patient’s sample out of sequence is a rara avis. Yes, a patient may be trying to make an important decision, but just about every genetics patient is trying to make a life-altering choice. Yes, a patient may be terribly anxious, but why and how should anxiety be given ethical weight? Lots of patients are anxious. It is impossible to say which patients are more “deserving” based on anxiety. And why should calm people be penalized for not expressing anxiety? (God bless them, though, for their serenity).

Communicating this to patients is difficult, to put it mildly. You don’t want to sound cold-hearted and insensitive and just say “No, sorry, can’t do that.” The wise counselor will try to validate patient anxiety, encourage them to express it, and emphasize that the lab will do everything ethically and humanly possible to provide an accurate (emphasis on accurate; rush = greater inaccuracy) and timely result. Providing assurance that they will be contacted as soon as the result is complete, working out the details of who and when to call, and verifying contact information shows that you are concerned and supportive. Set realistic expectations on the range and uncertainty of the turn around time and explain that rushing results is largely beyond human control. It can sometimes be helpful to put the situation in context – there are many men or women in their exact same position and the lab is doing its best to make sure that every patient is treated in the same way.

Of course, many patients will stay anxious whatever you say to them. Anxiety is largely resistant to treatment with logic, reason, and compassion. It is the price our profession pays for labeling patients as High Risk and putting them in the psychologically vulnerable position of having to confront their mortality and their darkest fears about themselves or their children. But they would be even more upset if they were told that their results are taking longer because the lab decided to analyze some other patients ahead of them. Fairness, honesty, and equity must be our guides.

 

 

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I Love Them, I Love Them Not….. Proposed Revised Medicare Guidelines For Coverage of BRCA Testing

Graphic by Emily Singh

Graphic by Emily Singh

The Centers For Medicare & Medicaid Services (CMS) has proposed a revised Local Coverage Determination (LCD) for BRCA* testing that is bound to make genetic counselors equal parts happy and  upset. Whether you are mad, glad, or confused, CMS is seeking input so you have the opportunity to applaud, chastise, or critique the proposed LCD as you see fit. The guidelines are too numerous to detail here, so I will highlight a few that are particularly relevant to the genetic counseling community. Please, please, please carefully read the guidelines yourselves.

The most radical change is that, as I read the LCD, it appears that genetic counselors are poised to become covered Medicare providers. In the section on coverage for multigene panels (itself a disappointment, vide infra), one of the criteria that must be met is “Pretest genetic counseling by a cancer genetics professional” defined as, among others, a Genetic Counselor certified by the American Board of Medical Genetics or the American Board of Genetic Counseling. Amen to that. This is a huge step forward for the genetic counseling profession and for patients covered by Medicare.  Note, though, that this “genetic counseling by a genetics professional” requirement is limited to patients who want multigene panel testing; it is not mentioned in the section on patients who undergo BRCA testing alone. Of course, patients who ask their providers about a multigene panel would need to be referred to genetics professionals. The LCD further points out that the Affordable Care Act mandates private insurers to provide no-out-of pocket cost coverage for genetic counseling and BRCA testing for eligible women.

The second major issue – and one that we should welcome but will undoubtedly  raises hackles among many genetic counselors – is that the coverage for genetic counseling excludes genetics professionals who are employed by a commercial laboratory. However, genetic counselors would be covered if  they “are employed by or contracted with a laboratory that is part of an Integrated Health System which routinely delivers health care services beyond just the laboratory itself.” In other words, a genetic counselor employed by, say, Ambry or GeneDx or Counsyl would not be covered but a genetic counselor who worked for, say, Baylor or the University of Washington would be covered. While we all want to deny that we would actually let conflict of interest color the care we provide, in fact conflict of interest could develop into a very serious threat to the integrity of the profession in the absence of clear-cut guidelines for lab-employed genetic counselors.

The third big change is that the new criteria include women who do not have a personal history of breast cancer but have a sufficiently concerning family history of cancer. Until now, only women diagnosed with breast or ovarian cancer were eligible for testing. The new criteria, based on NCCN guidelines, are quite broad, and besides breast and ovarian cancers some of the criteria also include pancreatic and prostate cancers. For example, as I interpret the LCD, testing would be covered for an unaffected woman if she has a first or second degree relative with breast cancer at any age and another relative with breast cancer diagnosed at 50 or younger; or if a first or second degree relative has breast cancer and there are two relatives diagnosed with pancreatic cancer or prostate cancer with Gleason score =7 (surely CMS means ≥ 7 ); or if a woman has a first or second degree relative with ovarian/fallopian tube/primary peritoneal cancer; or if a there is a first or second degree relative with pancreatic cancer or prostate cancer (Gleason score = 7) and there are two or more relatives with breast/ovarian/pancreatic/prostate cancer (Gleason = 7). In a further broadening of criteria, patients with pancreatic and prostate cancers would also be covered, provided they meet family history or ancestry criteria.

Critically, the guidelines for testing unaffected individuals specifically apply to unaffected adult women with a family history of cancer; there is no mention of  unaffected men. Thus, I assume that an unaffected male who otherwise meets family history criteria would not be covered. However, coverage is provided for men who have been diagnosed with breast cancer, and men who have been diagnosed with prostate/pancreatic cancer who meet family history criteria.

While I wholeheartedly support the expanded criteria, they are very, very complicated. It will require careful comparison of pedigrees with the new criteria; I suspect that many errors will unintentionally arise. Some patients who may have been told by their ordering provider that they might be covered will find out that in fact they don’t meet guidelines (hopefully through the careful checking by laboratories before testing is initiated). Other patients will be incorrectly told by the ordering provider that they are not eligible for coverage, resulting in an unfortunate lost opportunity for initiating cancer risk reduction strategies.

Another complication lies in the definition of “close blood relatives” which Medicare currently defines this as first, second, and third degree relatives. However, in the proposed LCD, various criteria apply sometimes to first and second degree relatives, and sometimes to third degree relatives. In other places, “close blood relative” is not defined. For example, under the first section titled “Personal History of Female Breast Cancer” the second criterion reads “Diagnosed at age 50 or younger with at least one close blood relative* with breast cancer at any age.” I may have missed it, but I could not find where the asterisked “close blood relative” was defined. Further complicating the matter are criteria that depend on Gleason scores for prostate cancer. Realistically, what patient is going to know Grandpa’s or Uncle Jack’s Gleason score, and if they died 20 years ago, how can the score be found? If a relative died of prostate cancer, there is a pretty good chance he had a high Gleason score but still definitive proof will be hard to unearth.

The fourth Big News Item is a limitation on coverage for multigene panels. Currently, I can get coverage for just about any multigene panel that included BRCA, as long as the patient met criteria for BRCA testing. The proposed guidelines, however, limit panel testing to situations where all of the genes on the panel are relevant to the patient’s personal and family history AND the individual meets NCCN guidelines for at least one other hereditary cancer syndrome such as Li-Fraumeni, Cowden, or Lynch. Thus, panels like Myriad’s myRisk, the University of Washington’s BROCA, or Gene Dx’s Comprehensive Cancer Panel would not be covered. Labs will need to do lots of rejiggering of their panels. For Myriad, the proposed guidelines would be an especially big hit since Myriad appears to be phasing out single gene testing and replacing all genetic testing with myRisk. Rubbing a little more salt into Myriad’s wound, the CMS guidelines state that BRCA CDx, the BRCA test intended for patients who are being considered for treatment with the PARP inhibitor Lynparza, will not be covered for patients who have already had BRCA testing.

No doubt this LCD will cause strong reactions, both pro and con. Genetic counselor input is critical. It is not a finalized document and we can play a key role in shaping the delivery of medical genetic services. The comment period is 6/17/2015 through 8/3/2015. Per the LCD, the Proposed Contact is Earl Berman, Attn Medical Review, Two Vantage Way, Nashville, TN 37228 or Earl.Berman@cgsadmin.com.

I may  have misinterpreted parts of the LCD so please call me out if I got something wrong. And share your thoughts about the proposed guidelines in the Comments section below.

* To get to the proposed LCD, click on the Accept button at the bottom of the link page, which will take you to the proposed guidelines.

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Great Expectorations – A NextGenetic Counseling Model?

One of the few things we can all agree on is that there are few things we can all agree on. – Quote attributed to Yours Truly.

Genetic counselors have an uncanny knack for being in the right historical time and place. We have combined this historical luck with an almost naive courage in taking professional risks and parlayed them into a phenomenal growth rate for the profession. As soon as any new genetic testing technology was barely in the womb – amniocentesis, CVS, maternal serum screening, hereditary cancer testing, cardiac genetics, whole exome/genome sequencing – genetic counselors were there to gestate it and deliver it into medical practice.  We have frequently re-invented ourselves to meet the needs created by new technologies – cardiac counselors, neurogenetic counselors, oncogenetic counselors, whole exome counselors, lab counselors. But one area where we may have stumbled a bit is direct to consumer (DTC) genetic testing. How do genetic counselors fit into a service that wants to bypass genetic counseling and that so far has been of dubious clinical value?

In our e-tail world where you can purchase just about anything online, some version of genetic testing/counseling that bypasses the traditional clinician-in-the-clinic model seems inevitable. Indeed, Color Genomics, a biotech start-up backed by players in the genetics and tech communities, is now offering what is essentially a hybrid of the traditional genetic counseling paradigm with DTC testing for hereditary breast cancer risk assessment. Tests are ordered and interpreted by a physician “either your own or one designated by Color.” Patients request a test kit directly from the lab, provide a saliva sample and then mail the kit back to the lab. The 19 gene panel includes BRCA1/2 along with the usual list of genetic suspects – PALB2, CHEK2, etc. The same tests that we offer to patients in our clinics for thousands of dollars along with the hassles of dealing with insurers and the complexities of scheduling and paying for a genetic counseling appointment can now be had with a spit sample provided from the convenience of your home. No muss, no fuss, never needs ironing – and at the shockingly low cost of $249.

For many patients, the hardest part of genetic testing is actually making it into our offices. It takes a big emotional investment to make an appointment that might involve psychologically sensitive and scary information, several rounds of phone tag with the scheduler, figuring out an appointment time that fits into in busy family/work schedules, determining insurance coverage, and then having to deal with multiple appointments at institutions that require additional visits for a blood draw and for results disclosure. Not uncommonly, my patients’ medical records often indicate that the referring provider had recommended genetic counseling many times over several years. Nobody comes to see us until they are absolutely ready to do make the commitment to do so. The Color Genomics model, by comparison, makes the traditional approach look positively byzantine.

Sure, we want assurances from Color Genomics on technical details of the test such as depth of coverage, ability to detect the widest possible range of mutations,  follow-up on variants, etc. And we might question the success potential  of a business model that offers a test at one tenth or less  than what most competitors are charging. But this is a medically and financially savvy group, and I am willing to bet that they thoroughly addressed these issues before they launched this product. We can probably expect to see similar genetic testing start-ups in other areas of genetic testing.

With an estimated turn-around time of 6-12 weeks, this test is not for cancer patients looking to make a surgical decision in a few weeks. And, interestingly, $249 is more than many of my patients typically pay for BRCA or multigene panels. Because most of my patients – especially those who are being treated for cancer – have already met their deductibles, their out-of-pocket costs for genetic testing are minimal, assuming they meet their insurers’ criteria for coverage for genetic testing. For now, at least, Color Genomics might appeal to patients who have large out-of-pocket expenses, or those who do not want to go through the “hassle” of face-to-face genetic counseling, or lack insurance coverage for genetic testing/counseling, or who do not meet their insurers’ criteria for coverage for genetic testing, or patients whose insurers don’t cover multigene panels. More to the business point, Color Genomics’ mission is Democratizing access to high-quality genetic information, consistent with the recommendations of Dr. Mary-Claire King, one of the company’s advisors, for all women to undergo genetic testing for hereditary cancer risk assessment (me, I am not a big fan of universal screening for anything, but that’s probably just one more area where I am in the decided minority, and I wince at the use of the word “democratizing”). Of course, if insurers get wind of this inexpensive pricing and require samples be sent to low cost labs, then there will be even less of an incentive for patients to go through the traditional genetic counseling/testing model (currently Color Genomics does not bill insurers).

I can hear the protests about the problems that will arise when genetic counselors are not involved face-to-face in pre-test genetic counseling. The wrong relative will be tested, inaccurate interpretations by patients and care providers, increased patient anxiety, inappropriate under- or over-utilization of high risk screening and surgery. But we largely have only ourselves to blame. With a few exceptions and some small case series, the genetic counseling community has done little research to prove that meeting with a genetic counselor prior to genetic testing makes for comparatively better health or psychosocial outcomes. And, at least for now, the early studies on DTC testing have so far concluded that most of our concerns about patient anxiety, inaccurate test interpretation, etc. are mostly unfounded (yes, I know we all have a story to tell that suggests otherwise but for now they are only stories).

But whether we like it or not, one form or another of this new genetic counseling/testing model is probably here to stay. In fact, I will venture the prediction that most genetic testing for cancer and other common conditions will eventually go around rather than through clinic-based genetic counselors. It is convenient for patients, saves money (until we can prove otherwise), and may be every bit as good as we are in educating patients. Private labs, unlike most clinics and hospitals, have the great good sense to invest the resources in developing highly readable websites that include explanations, information, and graphics to help patients better understand their results (personally, I think that lab-provided education can subtly bias the information to make disease risks seem higher and interventions more beneficial, but that is a topic for another day).

So maybe it is time for genetic counselors to again re-invent ourselves. Perhaps the classic model of pre-test counseling is mired in twentieth century ethical and technological paradigms. New employment opportunities and roles for genetic counselors in labs will develop and labs may eventually become the primary employers of genetic counselors. We will have to reconsider how genetic testing is arranged and managed in our clinics. And most critically, we will need to develop an ethical framework for delivering these services. Opportunities for conscious and unconscious conflicts of interest abound in all areas of genetic counseling, but perhaps most conspicuously in laboratory employment. Will we be swallowed by the business community and its emphasis on profits à la Milton Friedman, the influential economist? Will we become consciously or unconsciously less critical of the downsides and limits of genetic testing when profits and salaries depend on testing volumes? What are ethical and unethical behaviors for genetic counselors in these settings? Will psychosocial issues fall by the wayside? Frankly addressing these questions will make us uncomfortable, but no one ever said that genetic counseling would be an easy profession.

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Do I Really Have To Tell Them? Duty To Recontact And Variants of Unknown Significance

Duty to recontact (DTR) is one of those principles that on Mondays, Wednesdays, and Fridays I feel should be an unquestioned standard of care. On Tuesdays, Thursdays, and Saturdays, the practical part of me prefers to sweep it under the ethical rug (on Sundays, I give it a break and enjoy a wee bevvy of single malt Scotch). The devil lies in the details of time, effort, unremunerated cost, and frustration involved with trying to notify patients of significant re-interpretations of test results or the availability of new testing technologies. A recent systematic review of DTR by Ellen Otten and her Netherlandish colleagues concluded that, broadly speaking, patients value being recontacted whereas clinicians feel that DTR is desirable but impractical.

I was surprised to learn that the American College of Medical Genetics is the only professional organization that has issued a formal statement in support of DTR, initially in 1999, with an update in 2013 specifically addressing clinical exome sequencing and clinical genome sequencing (Readers, please let me know if I am mistaken). I am not aware of case-law or legislation that mandates DTR, but I would feel awfully uncomfortable if a law suit were brought against me for failure to recontact a patient. It is hard to ignore something that carries the label “duty.”

In a previous posting I suggested that  labs should refrain from reporting variants of unknown significance (VUS) because VUS should virtually never be used to guide clinical practice, and that labs should track VUS and alert clinicians to significant reclassifications. That blogpost generated interesting discussion on all sides of the issue. Collaborative databases such as ClinVar and PROMPT may help sort out the clinical relevance of human genetic variation, and to some extent relieve individual labs of part of the burden of dealing with VUS. But these efforts will only further the importance of clear and reasonable DTR guidelines. We are in this to improve the lives of our patients, and if advances in genetic knowledge are not used to help clinical care, then we have a  failure on our hands.

As a first step, let me offer some suggestions toward establishing reasonable DTR guidelines:

  1. The primary – but not exclusive – responsibility of monitoring and reclassifying variants should lie with the original testing laboratory or whichever corporate entity might one day buy out the lab.  However, transparent sharing and curating of data among labs – such as with PROMPT and ClinVar – is critical and should be supported by government funding and built into the cost of testing. Classifying variants is enormously complex and the final word requires more than just a few smart people at a single lab rendering their opinions.VUS scale
  2. Labs should make good faith efforts to contact ordering clinicians – not patients – when a variant is reclassified. The clinician is responsible for integrating the test results into patient care. If the clinician is not reachable or no longer affiliated with the same institution or practice, then the original ordering facility should be notified. If efforts to re-contact clinical personnel fail, labs might then consider contacting patients directly, though this could be left up to individual lab policy. If all attempts to recontact fail, well so be it, but should be fully documented. If clinicians do not want to take on the responsibility of DTR, then, quite frankly, they should not engage in the practice of ordering genetic testing and should refer their patients to geneticists or other clinicians who are willing to assume this task.
  3. DTR should be limited to situations where the reclassification of a VUS has direct clinical impact. Thus, there should be no DTR if a VUS is “down-graded” to a polymorphism or a benign allele. In my experience, the vast majority of VUS are down-graded. Alerting patients to every variant and then notifying them months or years later that the VUS was clinically irrelevant is not the best use of resources and manpower. However, DTR becomes critical if a VUS is “up-graded” to Suspected Pathogenic or Pathogenic, or – the more painful phone call to make – if a Suspected or Pathogenic allele is “down-graded” to a polymorphism (“Uh, that salpingo-oopphorectomy and mastectomy, well, maybe they weren’t so necessary after all.”).
  4. There should a “statute of limitations” on how many years out from the testing date that DTR would apply. My daughter suggested 7 years from the time of the original interpretation; she tells me that this is consistent with the length of time that care providers are legally required to keep patient records. I might be persuaded in favor of five years, in light of the mobility of clinicians and patients, the inevitable business cycle of lab acquisitions/mergers/closures, and advances in genetic testing that will rapidly make today’s cutting edge techniques look as elegantly primitive as Clovis point technology.

    iClovis

    iClovis

  5. When undergoing genetic testing, patients should fill out a form with their contact information. Patients should be actively involved in their medical care and this brings with it an obligation for patients to inform clinicians of contact information, along with details of who and how to contact if the patient becomes deceased, mentally incompetent, or otherwise unreachable.  Ideally clinics would contact patients every two years or so to update contact information. While this is theoretically straight-forward with electronic medical records (EMR), most EMR are far less flexible and surprisingly less able to allow such seemingly straight-forward database functions. Getting your IS department to extract individualized reports, mail merges, and data analysis from the EMR is almost as difficult getting the US Congress to pass meaningful legislation. And, to add another layer to participation in their own care, patients should be permitted viewing access to online VUS databases, which should be made user-friendly. It may not be what every patient wants, but it should be available for those who wish to pursue it. In this area, we could learn a lot from direct to consumer genetic testing labs, which are light years ahead of us in designing easy to use, highly informative, up to date websites and creating on-line communities.

Some of you will support a few of these proposals and think that others are about as good an idea as Discount Colonoscopy. But if we don’t do something then nothing will ever get done. What are your thoughts?

 

Once again, thanks to Emily Singh for doing the hard work on the graphics (really, isn’t iClovis très cool?).

 

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Make Me Wanna Holler

Oh, make we wanna hollerHollerin' Man

And throw up both my hands

Make me wanna holler

They don’t understand

Inner City Blues, written by Marvin Gaye and James Nyx, Jr

Multigene panels have perked up the world of hereditary cancer testing. After 15 years of Myriad-dominated BRCA testing as pretty much the only testing option for at-risk families, cancer genetic predisposition testing has been reinvigorated by a whole slew of labs offering a bewildering array of testing options – panels focused on a specific type of cancer, panels limited to highly penetrant genes only, multi cancer gene panels, panels that include moderately penetrant genes, and even design-your-own panels. This isn’t a perfect world and the pick-up rate of new mutations is a bit disappointing. Still, sunshine and fresh air are starting to flow through some of the dark and musty corners of hereditary cancer risk testing.

But all of a sudden health insurers are starting to rain on the parade of new tests. Over the past year, a number of health insurers – local and national – have backed off from covering multigene panel tests after having  previously provided coverage. Regence Blue Shield, First Choice, HMA, CIGNA (with a few rare exceptions), BlueCross BlueShield of Kansas, and now Federal Blue Cross and Aetna (which doesn’t even cover large genomic rearrangement testing!), among others, have put policies in place that specifically exclude coverage of multigene panels. What’s going on here?

I don’t want to stereotype health insurers as amoral profiteers looking to cut a few corners to increase their bottom lines by denying recommended medical care (though admittedly the temptation to do so was strong). That is foolish name calling that gets us nowhere. The policy changes are presumably based on a lack of data on our part rather than a lack of conscience on the part of the insurance industry.  Why should insurers cover  multigene panels if care providers can’t demonstrate that they improve patient outcomes or make for more economical use of medical resources? Health care costs are expanding at a quicker rate than the visible universe and any new tests should have clear-cut medical or economic benefits.

universe v healthcare, courtesy of Emily Singh

The problem lies in the very nature of genetic disease. Genetic conditions are rare. Even with the BRCA genes, the most common highly penetrant cancer risk genes, it took nearly ten years to accumulate convincing data on clinical utility and cost effectiveness. All of the other cancer risk associated genes are far less common. It is impossible to conduct clinical and cost-effectiveness studies on each gene, especially for the moderately penetrant genes. Simply put, we will never be able to provide the data that insurers are demanding.

But enough kvetching. Let me offer some ways to address this problem.

  1. Insurers need to understand that this is a whole new world in genetics and therefore they must use different standards for determining coverage for testing for uncommon conditions. An alternative way of thinking is to look at genetic diseases as defects in pathways rather than as isolated genes. Given what we have learned about the BRCA/Fanconi pathway, it is reasonable to assume that many genes in the pathway – NBN, PALB2, ATM, etc. –  will have some impact on cancer risk. If research can demonstrate the benefits of testing for one gene in a pathway, this should provide solid ground for assuming that testing other genes in the pathway will likely be beneficial as well. Adding more genes to a testing panel should result in greater medical benefits, though admittedly to varying degrees. Sure a few genes in a pathway may eventually turn out to have little clinical value, but those can be discarded along the way.
  2. Insurers must realize that adding more tests to a panel does not substantially increase the costs. Thanks to massively parallel sequencing, it costs no more to run four genetic tests than it does to run forty genetic tests. While the greater number of positive genetic test results may result in greater indirect costs because more patients will test positive for a mutation and will be undergoing screening and risk reducing procedures, this will be partially offset by eliminating the need for screening and prophylactic measures in family members who test negative for familial mutations. In a high risk family where no mutation has been identified, everyone in the family needs testing. However, if a mutation is found in the family, on average only half as many people will be high risk.
  3. Insurers should make multigene panel testing contingent on genetic counseling with a qualified professional to help assure that patients are provided with the most accurate and up to date information about the clinical implications of the test results.
  4. Clinical guidelines of professional organizations such as the NSGC, ACMG, NCCN, ASCO, should endorse multigene panels. Not necessarily specific gene panels, but rather the concept of multigene panels in general. Insurers will have a harder time denying coverage for a test if is widely recommended by groups that help set standards of care.
  5. We must continue to conduct clinical and economic studies to help determine the utility of multigene panels. The studies will require broad cooperation among labs, research institutions and individual researchers, patient organizations, and international consortia. And genetic counselors should be at the forefront of these studies. We are the boots on the ground for almost every new genetic test and are in a prime position to lead research efforts. We should be driving this mule team, not sitting in the back of the wagon hoping that we don’t fall off at the next bump.
  6. As I have discussed previously, there is reason to believe that some labs may be engaging in deceptive billing practices if they do not let insurers know that a panel is being but the insurer is only billed for BRCA analysis. This, in my view, is frankly unethical and creates an atmosphere of distrust. I would not be surprised if this has partially contributed to insurers’ reluctance to cover multigene panel testing. Such practices, if they are taking place, must be discontinued. Honesty and openness are sine qua non in any relationship.

Patients have the potential to benefit greatly from advances in genetic testing. But new technologies also create new challenges and require new ways of thinking about the care that we provide and how we justify paying for it.

 

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Resta’s Rules of Genetic Counseling

You will not find these pearls of wisdom in Psyche and Helix, Psychosocial Genetic Counseling, A Guide To Genetic Counseling, or the Journal of Genetic Counseling. I am certain that they will never be the source of correct responses on genetic counseling board certification exams. These insights are based on personal observations made during my 3+ decades of genetic counseling practice. There is almost no research to back them up but they are gospel truth nonetheless. Well, at least they seem true.

 

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1) All interactions with patients are primarily psychosocial encounters, no matter how much we or patients consciously or unconsciously try to focus on facts and figures.

2) All research studies are flawed in some way. Therefore, all facts, figures, and risk predictions that we so confidently quote are wrong, with the possible exception of Mendelian segregation ratios (but even there…). Quite often, several seemingly well designed studies about the same topic will produce conflicting results.

3) Which risk figures we choose to quote reflect more about our own unconscious biases, training, and professional influences than it does about the robustness of the statistics themselves.

4) It often turns out that patients with the lowest a priori risk have the highest chance of actually testing positive for a gene mutation and, conversely, the highest risk patients actually have the lowest chance of testing positive for a gene mutation (and I am not altogether making this up).

5) In a family that looks like it could have two different genetic syndromes, one syndrome highly likely and the second syndrome fairly unlikely, if you don’t test the family for the less likely syndrome they will inevitably be tested by another care provider some day and test positive, and then you will foolish and insecure (especially if the other care provider is not a geneticist). But if when you initially see the family you do the testing for the less likely syndrome, the testing will be normal and you will kick yourself for wasting healthcare dollars. Perhaps this is a corollary to Rule Number 4.

6) As I have previously pointed out in The Resta Paradox* there is a sub-set of patients who believe that the most improbable things will happen to them. If you say to such a patient “The odds of this happening are one in a thousand” the patient will inevitably respond “Well, I will be that one in a thousand. Rare things always happen to me.” To some extent, this is an example of Abby Lippman’s key insight from 35 years ago that patients inevitably dichotomize odds – either it will happen to me or it won’t. It may also be a defense mechanism, a way for patients to prepare themselves for the possibility of an unlikely undesired outcome. Trying to reassure such patients with even more statistics is an exercise in futility; these situations require good basic counseling skills. Really, when it comes down to it, who cares what numbers they choose to believe? A better counseling approach is to acknowledge the patient’s viewpoint and then explore why they believe these numbers and how that perception affects their decision-making.

Graphics by Emily Singh

 

7) If you make a clerical error, no matter how tiny and seemingly insignificant, it will come back to haunt you in unforeseeable and kafkaesque ways, and it will be nearly impossible to undo the error. My father, a career clerk, used to tell me ad nauseam “The world would be a better place if there were more good clerks.” Dad, bless his clerical heart, was right.

8)  The patients for whom you put in the most effort – or pre-appointment preparation – are the ones most likely to complain about you or to no-show for their appointments.

9) Nobody – not our billing departments or even health insurers themselves – understands insurance coverage for genetic counseling and genetic testing. Genetics itself is far simpler to understand than billing for genetics.

10) There will be at least one genetic counselor at your institution who is on maternity leave or planning a wedding.

The Resta Paradox  (graphic by Emily Singh)

* – The astute DNA Exchange reader may have noted a tendency on the author’s part to name things after himself – Resta’s Rules, The Resta Paradox, RestaEZ Gene Panels. Admittedly this is shameless ego stroking. But it is better than an eponymous syndrome. With all due respect and apologies to our genetic counseling colleague Ann Smith, my preference is for a medical cure or a clever theory to be associated with my surname.

And, once again, a special thanks to Emily Singh, daughter extraordinaire, for help with graphics.

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