Tag Archives: Genetic counseling

Are We There Yet?

Everybody Needs Genetic Testing!

The Annual Education Conference

of the

National Society of Genome Service Specialists (NSGSS)

Proud Sponsors:  UneedaTest, Inc.; TestAll!, Inc; Twist-of-Fate, Inc; RLKVirchow Pathogenomics, Inc.; BraveNew Analytics, Inc.; AfterLife Genetics, Inc.

Faculty: Speakers will be chosen by our Corporate Sponsors from their secret list of paid consultants, and from their fashionably dressed, attractive, professional sales staff.

Conference Speaker$/Sale$$taff/Clinician$

Reminder: Continuing Education Credits require attendance at each session and ordering a minimum number of genetic tests from each Corporate Sponsor.

Wednesday, October 24

10:00AM – 11:00AM Opening Address by the UneedaTest-Sponsored NSGSS President:  UneedaTest – The Genetics Laboratory For All Of Your DNA Testing Needs. An objective, scientific discussion of why UneedaTest is the right choice for your patients’ genetic testing needs. Free iPads to the first 100 attendees who promise to send us 50 specimens next month!!

11:00AM – Noon Plenary Session: Corporate Driven Eugenics: Is It Really That Bad?

Noon – 2:00PM  Luncheon, sponsored by RLKVirchow Pathogenomics, where our motto is “Omnis venditiones e venditiones/All sales arise from other sales.” Free lunch requires proof of having ordered genetic tests from RLKVirchow Pathogenomics.

2:00PM – 3:00PM Plenary Session: Clinical Trials – A Barrier To Patient Uptake Of New Genetic Tests.

3:00PM- 4:00PM Plenary Panel Discussion: Fear of Genetic Disease – Your Best Marketing Tool.

4:00PM – 4:30 PM  Soma and Dark Chocolate Break, sponsored by BraveNew Analytics. Free give-away of stylized Malthusian Belts with BraveNew Analytics logo!

4:3oPM – 5:30PM Corpses Have DNA Too: The Dead – The Next Market For Genetic Testing. Sponsored by AfterLife Genetics – the home of true ancestry testing.

6:00PM –  Until You Drink The Bar Dry  Uneeda Party, Sponsored by Uneeda Test. An evening of food, drink, fun, and clever sales pitches  by Uneeda Test Sales Associates. Important Disclaimer: This event is not intended to influence your choice of genetic testing laboratory.

Thursday, October 25

3:00AM – 4:00AM Community Outreach – Special Educational Event for local elementary, middle school and high school students

4:00AM – 4:05AM NSGSS Business Meeting

4:05AM – 4:10AM Open Mike

4:10AM – 4:20AM Ethical Dilemmas in Genetic Counseling

4:20AM – 4:25AM Advanced Counseling Skills for Patients In Crisis

4:25AM – 4:30AM Presented Papers.

4:30 AM – 8:00AM Free Time to explore the Exhibitor Booths

8:00 AM – 10:00AM TestAll! Sponsored NSGSS Leadership Award Ceremonies & Breakfast

–       Huntington Award For Most TestAll! Tests Ordered For Adult Onset Conditions in a Pediatric Setting

–       Gattaca Award For Strongest Advocate of the TestAll! Really, Really Expanded Newborn Screening Panel

–       Podsnap Trophy, awarded to the Genome Service Specialist who ordered the greatest number of TestAll! prenatal tests on a fetus

10:00 AM – Noon TestAll! Sponsored Break-Out Sessions (Choose One)

–       Counseling Skills: How To Appear To Promote Autonomy, Empower Patients, And Seem Non-Directive – But Still Increase Hospital Revenue.

–       Legal And Social Issues: How Everyone Benefits From Exclusive Use Gene Patents. Really. No Kidding.

–       Professional Issues: The Relationship Between Laboratories and Genomic Service Specialists:  Clinical Partnerships, Not Conflicts of Interest

Noon – 1:30 PM Twist-of-Fate Sponsored Luncheon. Special Student Session: Basic Counseling Skills: How To Convince Reluctant Patients to Undergo Genetic Testing.

1:30PM – 3:00 PM  Nap Time. Free TestAll! pillows and blankets for you to keep and proudly display in your offices. TestAll! – the lab that lets you sleep easy, knowing that your patients are getting the greatest possible number of genetic tests. Limited to attendees who have ordered genetic testing through TestAll!, so order testing now to secure your pillow and blanket.

3:00PM – 4:30 PM Twist-of-Fate Sponsored Lecture Series

–     The Disability Community – Who Cares If They Don’t Like Us?

–      The Nuremberg Code: No Longer Relevant To Your Practice.

–      Newborn Screening: Not Just For Treatable Conditions Anymore.

–      Ethics, Shmethics: Ignore The Critics.

4:30PM  – 5:00PM Twist-of-Fate Sponsored  “Twist-of-Lemon Martini Break”

5:00PM – 5:30PM Professional Education Panel Discussion: The Clinical  Doctorate in Sales: The Newest Advanced Degree in Genetic Counseling.

5:30PM – 6:00PM Closing Conference Lecture: Understanding How Your Relationship With Corporate Sponsors Does Not Influence Your Choice of Genetic Tests or Laboratories.


11 Comments

Filed under Robert Resta

Three Counseling Tip-lets To Make Your Job Easier

I am ashamed to admit that despite 29 years as a genetic counselor I have shockingly little in the way of great insights to pass on to colleagues. I have not developed cohesive counseling theories to guide the practice of genetic counseling, and patients remain enigmatic to me (and never seem to behave the way they do in textbooks or journal articles). Perhaps that is why I have shied away from  involvement with genetic counseling students and training programs. After about 30 minutes, I fear I would run out of helpful things to say. Often the best advice I can offer to a counselor who asks about how to handle a difficult session is  I don’t know. Just go in there and talk to them and see what happens.

But I  have managed to pick up a few small practical counseling tricks along the way. They will not cause you to re-think the underlying philosophy and ethics of your practice, but they can make your workday slightly more efficient and less stressful.  They may be frightfully obvious to many genetic counselors, but hopefully at least one of them will induce an Aha! moment.

Helpful Tip-let #1: The Awkward Death Slash – With every pedigree, you must repeatedly ask the sensitive question “Is your (name that relative) alive?”  If the patient answers No, in full view of the patient you mark that relative’s icon with a backslash to indicate that the family member is deceased. The act of slashing the icon can symbolically evoke sadness and other emotions surrounding the death of a parent, grandparent, or – oh so painful –  child. It is an awkward moment at best. While a patients’ reactions can provide an opportunity to explore their emotional landscapes, you do not  want to unintentionally cause sorrow with a thoughtless gesture. There is already enough sorrow in genetic counseling; we do not need to compound it.

Distracted Gaze.
Photo courtesy of Liane Abrams.
For permissions and information, contact Lia Photography (925) 768-0006

A simple way around this sensitive situation is to ask the age at which the relative died. Patients often have to think for a moment about the answer, and almost inevitably briefly look away from you and stare off into the distance as they try to recall the age of their relative. In the moment that their eyes shift focus, you can discreetly mark the icon with a slash (have your pen poised just above the icon so you do not even have to look down to draw the mark). If the patient recalls the age  without shifting her gaze away from  you then ask the year of the relative’s death or birth. This will usually re-direct the focal point of the patient’s gaze.

I am amazed at how often this technique works.

Helpful Tip-let #2: The Pedigree Template – I don’t know how many family histories I had taken before I realized that virtually every pedigree has three invariant components: a proband, the proband’s parents, and the proband’s grandparents. Therefore, there are essentially 3 near-universal pedigree templates (except maybe if you are working in ART):

1) A female proband

2)  A male proband

3) A pregnant patient

Print one of these templates on the form you use for drawing pedigrees, and voilá, you have at least 7 fewer symbols (4 grandparents, 2 parents, the proband) and 6 fewer lines (3 mating lines, 3 lines of descent) to draw with every pedigree. I  prepare the templates by hand and then make a  bunch of photocopies of each template. If you use a pedigree drawing app, simply create and save the 3 templates, and then use the appropriate template for the patient at hand.

It can save you a few moments per patient, and over the course of a week that can add up to a nice little chunk of time. And somehow, from a workflow standpoint, it is psychologically easier to draw a pedigree if some of the routine work is done before you start.

Helpful Tip-let #3: A (Non)Capital Idea – This tip-let is for genetic counselors who order BRCA testing. Myriad transmits test results using a secure web portal called ResultsNow. To view the results, the user logs-in at the familiar screen:

Entering your email address (Hmm… is that my work email or my private email?), your password (which changes every few months), and then the CAPTCHA code unique to each login can lead to frustrating typos (random letter/number combinations are more difficult to type than patterned combinations). The log-in is made none the easier when the letters and numbers of the CAPTCHA code are obscured by the background coloring, leading to the potential for even more mistaken keystrokes.

Although I cannot eliminate all of the typo potential, it helps to know that you do not have to type the CAPTCHA letters in CAPS!  Having one less detail to attend to will increase your keystroke accuracy. A small thing, to be sure, but it does make the process that much less frustrating.

By the way, I am convinced that CAPTCHA codes contain hidden messages that reveal Secrets From The Great Beyond. In fact, the two ResultsNow messages that I received at the end of the day on March 12 included DVLS and MEN in the CAPTCHA codes, which I interpreted as an omen that the Duke Blue Devils and the Syracuse Orange would be the final two teams left playing in the NCAA Men’s Hoops Tournament.

Apparently the Great Beyond has a hard time with bracket picks too. Lehigh!? LEHIGH?!? ResultsNot is more like it.

Tip-lets do not seem to have enough gravitas to warrant a publication or AEC presentation. Nonetheless, they are an important part of our workday duties. It is rare that we get an opportunity to share this kind of information with each other. In the Comments below, tell us about your tip-lets (about genetic counseling, not about your system for picking winners of NCAA tournaments).

Gambling Chips.
Photo Courtesy of Liane Abrams.
For permissions and information, contact Lia Photography (925) 768-0006

6 Comments

Filed under Robert Resta

Why We Love Genetics: A Group Post by The Staff of The DNA Exchange

We suspect that many genetic counselors out there got hooked on genetics by an intriguing bit of information, something that grabbed your attention and made you say “Hey, that’s pretty cool. I want to learn more about this field.” Sure we all want to help people and be good counselors, but the intellectual stimulation of the complex field of genetics also plays a critical role in keeping the spark in your career relationship.

So, in a slightly belated Valentine’s Day posting, we wonks and nerds here at the DNA Exchange (well, there is no “here” here, just 5 of us who email back and forth on an irregular basis) decided to provide some Genetic Factoids that caught our fancy. They include the profound, the moving, the questionable, the near sensationalist, and some gee whiz stuff. Be stimulated by them, have fun with them, and in the Comments section, share your fave facts about genetics with our readers.

 During the course of mammalian evolution, the RNA of  retro- and other viruses have become integrated into host genomes, thanks to that clever devil of an enzyme, reverse transcriptase. Currently about 8% of the human genome is derived from these viruses. And these are not just inconsequential inert bits of DNA. Some viruses play a critical role in mammalian biology. For example,  the HERV-W retrovirus plays an important role in placental physiology, and, by one estimate, 0.4% of human genetic diseases are the result of insertions of Alu elements of retroviral origin. On top of that, about 90% of the cells in the human body are not actually human, as we are inhabited by a large populations of bacteria and other microbes (biology makes for strange bedfellows). Among other things, this calls into question just how much we are defined by “our” DNA, as well as  how we delineate the borders between species. It also makes me smile about our growing obsession with germophobic practices. (Horie M, et al. Endogenous non-retroviral RNA virus elements in mammalian genomes. Nature , 2010, 463:84-7Ryan F.  Human endogenous retroviruses in health and disease: a symbiotic perspective. J R Soc Med, 2010, 97:560-5.Katzourakis A, Gifford RJ. Endogenous viral elements in animal genomes. PLoS Genetics, 2010, 6(11):e1001191)

♥ The largest mammalian gene family has nothing to do with placentas, fur, intelligence, or  behavior. Instead,  the award for body system with the most DNA devoted to it goes to the olfactory system. Three percent of the human genome codes for olfactory receptors, more than the combined total of genes devoted to immunoglobulin and T-cell receptors. The smell of love is in the air, we have the genes to help us detect it, and Chanel takes advantage of that. (Shepherd GM  Neurogastronomy: How the brain creates flavor and why it matters. 2011.  Columbia Univ. Press)

 During the early 1990s, two out of three of deaths among men with hemophilia were the result of AIDS related complications, the majority of which were young men who had acquired the virus during transfusion treatments. In 2009, about half of all people diagnosed with hemophilia in the United States were infected with the Hepatitis C virus. One disease’s cure is another disease’s cause (vide infra, PKU) (Committee Reports, 111th Congress (2009-2010), House Report 111-220, Departments of Labor, Health and Human Services, and Education and Related Agencies Appropriation Bill, 2010.;  Soucie JM et al. Mortality among males with hemophilia: relations with source of medical care. Blood. 2011. 96:437-42.)

♥ In the United States in 2009, there were as many babies exposed to maternal PKU as there were babies born with PKU. Given the inadequate funding for follow-up of patients who have genetic diseases detected by newborn screening and the potentially harmful effects of maternal PKU, the benefits of PKU newborn screening in preventing developmental disabilities hang in a delicate balance. It also makes one wonder what surprises the law of unintended consequences holds for expanded newborn screening (vide supra, hemophilia). (Resta R (2012) Generation n + 1: Projected Numbers of Babies Born to Women with PKU Compared to Babies with PKU in the United States in 2009. Am J Med Genet (in press).)
 

 A study of 194 DNA exonerations of criminal convictions found that witness/victim misidentification was a factor in 75% of wrongful convictions. False confessions were obtained in 30% of the cases, and jailhouse/government informants played a role in 22% of false convictions. Invalid forensic science testimony played a significant role in wrongful convictions, including serology (38% of cases, mostly blood, saliva, semen, and vaginal fluids), hair comparisons (22%), fingerprinting (2%), and bite mark analysis (3%) (And CSI make it look so easy and objective). Of exonerees, 58% were African American, and 43% of crimes were classified as cross-race (i.e., a perpetrator of one race committing a crime against a victim of a different race). DNA  plays a critical role in the legal system. Still, I am shocked by proposed state laws that require collecting DNA at the time of arrest (not at the time of conviction). (Hampikian G, et al.  The genetics of innocence: Analysis of 194 US DNA exonerations. Ann Rev Genomics Hum Genet. 2011. 12:97-120.)

 About 8-9% of dizygotic twins are the result of more than one coition and 1/400 dizygotic twins born to married white women in the US are bipaternal. Some people are very romantic. ( James WH. The incidence of superfecundation and of double paternity in the general population. Acta Genet Med Gemellol (Roma).1993. 42(3-4):257-62.)

 Elizabeth Taylor’s thick eyelashes were the result of a mutation in FOXC2, which can cause lymphedema-distichiasis syndrome (though she did not appear to have “photo”-phobia). (Elizabeth by J. Randy Taraborrelli, Grand Central Publishing, 2006).

♥ Because of a mutation and in-breeding, the town of Sao Pedro, Brazil has a 10% rate of twinning. Most of the twins have blue eyes and blond hair, which had raised suspicions that the unusual number of twins was the legacy of some peculiar science experiment by German ex-pat in hiding Josef Mengele (Nazi ‘Angel of Death’ Not Responsible for Town of Twins,  New Scientist, January 27, 2009).

 Levels of gene expression for genes involved in fighting infection are lower in people who are lonely, according to researcher Stephen Cole (Ah, yes, but the lonely suffer less from heartache).(Cole S. et al., Social regulation of gene expression in human leukocytes. Genome Biology, 2007, 8:R189).

 In a study by Muscarella and Cunningham, males and females viewed 6 male models with different levels of facial hair (beard and mustache or none) and cranial hair (full head of hair, receding and bald). Participants rated each combination on 32 adjectives related to social perceptions. Males with facial hair and those with bald or receding hair were rated as being older than those who were clean-shaven or had a full head of hair. Beards and a full head of hair were seen as being more aggressive and less socially mature, and baldness was associated with more social maturity.Of course, social maturity is very difficult to measure in men. (From: http://en.wikipedia.org/wiki/Baldness; Muscarella, F. & Cunningham, MR. The evolutionary significance and social perception of male pattern baldness and facial hair. Ethology and Sociobiology, 1996, 17 (2): 99–117. doi:10.1016/0162-3095(95)00130-1).

 If you were to recite the ATCG sequence in your own DNA (which is 3 billion bases pairs long) and uttered 100 ATCG sequences per minute without taking a break for sleeping, eating, or drinking, you would speak for 57 long years. Not so helpful for maintaining close relationships.

 1000 cell nuclei could be squeezed into a period mark at the end of a sentence. (http://www.geneplanet.com/the_abcs_of_genetic_analysis/interesting_genetic_facts)

 A report in Scientific American in late 2011 looked at the websites that were most commonly linked to by science-lovers on Twitter. There are several flaws inherent in the “study design,” but regardless it is interesting to note that Genetics and Astronomy were very closely linked: meaning people who linked to Astronomy articles & content were more likely to also link to Genetics content and visa versa (Hey there Genetic Counselor, you with the stars in your eyes). Other interesting correlations included Physics and Fashion as well as the fact that Chemistry appeared to be an outlier, not being linked to any other science.
In terms of heritability versus shared environmental effects, genetic factors account for 50-64% of an individual’s right-wing authoritarian attitudes with 0-16% due to shared environmental effects, while genetic factors account for approximately 54% of an individual’s extraversion, 49% of their conscientiousness and 57% of their openness with no appreciable shared environmental effects. (Bouchard TJ. Genetic Influence on Human Psychological Traits. Curr Dir Psychol Sci. 2004;13(4):148-51.)

 And, of course, let us never forget The Jumping Frenchmen of Maine.

3 Comments

Filed under Allie Janson Hazell, Jessica Giordano, Laura Hercher, Michelle Strecker, Robert Resta

The Myth of the Designer Baby

A couple of months ago I was interviewed by a few undergraduate students doing a class project on Reproductive Genetics. As  anticipated, their questions centered on new technologies, such as preimplantation genetic diagnosis, and then quickly veered toward the topic of  creating ‘designer babies.’ After completing the interview, I felt like I had  taken the wind out of their sails. For all of their enthusiasm and controversial questioning, I had simply and consistently reiterated two points:

  1. We don’t have the scientific understanding and capacity to pick and choose for cosmetic traits.*
  2. In my honest (and perhaps wishful) opinion, I hope we never gain the ability to do so.

I was reminded of that interview when The Globe and Mail ran a front-page story at the beginning of January: ‘Unnatural selection: Is evolving reproductive technology ushering in a new age of eugenics?‘ It is a piece that we have all read a dozen times before, with quotes from GATTACA to boot. As I started in on the article though, I had a brief moment of self-doubt. More specifically, I wondered if my own ‘wishful thinking’ (point number 2, above) might cloud my judgement and ability to see what is actually being offered in the real world.  What if someone is offering testing in the realm of ‘designer babies’ that I am not aware of?

In the end, contrary to what the title suggests, the article mostly focused on Mendelian diseases and the well-known ethical ‘slippery slope’ discussion. It was also chock full of quotes from medical professionals who bluntly state that we don’t have the capability to select for cosmetic traits, and will likely never have the ability to accurately do so.

There were still things in the article that surprised me, though. For one, the openness of PGD gender selection testing being routinely offered by a US-based center for non-medical indications. I also learned about a fertility center called Natera, that has considered using PGD to test for common complex disease, such as psoriasis. (In looking into the company further I was happy to see that they have a number of genetic counselors on staff.) Most notably, I was surprised by quotes from a number of fertility specialists who say they routinely get questions about whether they can select for specific cosmetic traits.

Dr. Steinberg’s work in Tinsel Town means that he is well acquainted with such desires. “We get requests for all kinds of things. We had a pop star inquiring if her vocal abilities could be passed on to her children,” and elite athletes asking, “Do you think you could make it a tall boy?”

The thorn in a genetic counselor’s side

As genetic counselors, we will spend the rest of our professional lives explaining that our role does not involve the creation of ‘designer babies.’ This is a professional hazard that we have no choice but to accept.  As frustrating as this perpetual conversation may be, at least right now we have the science to fall back on: We can‘t do that. We don‘t do that.

But, what if? What if the science gets there, and the myth of the ‘designer baby’ becomes a reality?

I’m pretty confident that we will not see a day when parents routinely use reproductive technologies to select for cosmetic traits, or even against multifactorial diseases. The complexity of the genome is too great, and the gene-gene, gene-environment, epigenetic interactions too numerous and minute to control. But, maybe I’m just blinded by my  personal opinions on the matter.

I’d love to hear what others think. Cast your vote and/or share your thoughts below.

*Cosmetic traits being used to describe polygenic phenotypic traits, such as height, eye color, hair color etc.

8 Comments

Filed under Allie Janson Hazell

Blind Spot: Genetic Counselors and Financial Conflict of Interest

Many people don’t know that the human eye has a blind spot in its field of vision. There is a part of the world that we are literally blind to. The problem is, sometimes our blind spots shield us from things that really shouldn’t be ignored. Sometimes our blind spots keep our lives bright and shiny.
– Meredith Grey, character from ABC TV Series Grey’s Anatomy

It’s safe to say that genetic counselors are not in it for the money. I prefer to believe that our practice is guided by what we perceive to be our patients’ best clinical and psychosocial interests, with no concern for fiscal gain for ourselves. But however bright and shiny we may be, we are only human and subject to the same economic pressures, character flaws, and temptations as everybody else. I am not claiming that there is wide scale greed and corruption in the profession. What worries me more is that our blind spot can prevent us from detecting or admitting the possibility of a conflict of interest.

This topic has not been openly discussed among genetic counselors, so it’s about time the subject was broached. I suspect this discussion will evoke discomfort, defensiveness, and not a little denial.  Financial conflicts of interest might arise in many areas of genetic counseling but I will explore just three: when genetic counselors work for laboratories as expert advisors on genetic testing, when we need to justify our clinical positions to hospital administrators, and at our  annual education conference.

 Medical laboratories and their employees are driven by a genuine desire to help referring physicians and their patients. I have been uniformly impressed by the help I receive from lab counselors who have walked me through the testing maze in complicated clinical situations. But let’s face it – labs are profit-driven corporate entities. If an insufficient number of tests are ordered, the laboratory and its investors lose money. Hopefully laboratory directors do not set monthly test quotas (“Resta, I better see 150 TRFs for our new autism screen next month or you are out of a job.”). But if the number of tests drops below a certain threshold, some manager somewhere is going to notice. Labs may choose to discontinue that particular test, but more likely they will try to boost test uptake.
The need to make a profit, with the attendant job security for us, is a powerful motivator that can subconsciously influence conversations between lab counselors and healthcare providers. Think of those gray situations where multiple tests can be ordered but it is unclear just how likely they are to be positive or clinically useful (“Well, this doctor does not want to leave any stone unturned  in working up this family so maybe I should suggest Test X that she hadn’t thought of, even if is very unlikely to be positive and will not change clinical management.”).
Or consider labs that offer SNP testing for risk assessment for common disorders like diabetes or cardiovascular disease, tests that do not yet have proven clinical value. One might justify such testing under the rubric of “Patients Have A Right To Know.” But patients also assume that because a test is available and yields a precise sounding risk estimate, it must have some clinical value, and therefore patients think they have a right to know. Is offering such tests motivated by an altruistic desire to ensure that patients’ rights are not denied, by profit-seeking, or by misguided clinical judgment? The answer is murky.

Genetic counselors who work in medical centers are just as liable to conflicts of interest as their laboratory counterparts. In these tough economic times, we are being called upon to justify our jobs to administrators who face dwindling budgets and might have less of an appreciation for clinical and psychosocial issues. In response, we might look to increase our patient volumes, and one way to do that is to expand the indications for referral to genetic counseling beyond what might be considered “medically necessary.” You might then tell your boss that broadened guidelines will increase downstream revenue through more extensive screening and increased rates of prophylactic surgery. Surely we are not talking our patients into salpingo-oophorectomies or breast MRIs to enrich the hospital’s coffers or to secure our jobs, but that is the  message we are communicating to hospital administration (for the moment, ignoring the fact that we have little data to prove that assertion).

Or think about fetal diagnostic testing through maternal serum, which will presumably reduce the need for amniocentesis and CVS. Even if maternal serum testing proves to be not quite  diagnostic and still require invasive testing for verification, First Positive rates will be much lower than with traditional serum/ultrasound screening. This in turn might lower departmental revenue by reducing the number of counseling referrals,  invasive procedures, and karyotypes. Just how will those economic considerations affect our job security, how we evaluate these new tests, how we present them to our patients, and how we integrate them into our clinics?

The National Society of Genetic Counselors (NSGC), our collective face that we present to the public, has expanded its financial relationship with private laboratories. For example, in 2011, about 25% of the revenue from the Annual Education Conference came from corporate exhibitors and sponsors (contributing ~$216,000 of the total conference revenue of ~$820,000). Our professional relationships with labs are critical on many levels. But  accepting money  from them tacitly – if not officially – condones their services. NSGC would probably not accept certain labs as exhibitors or sponsors if those labs offered questionable  services, like using genetic testing to find the perfect mate or to improve your sex life through nutrigenomics. Excluding some labs lends a certain amount of legitimacy to those labs  from whom we do accept funds.

And let’s not forget those breakfasts and evening debaucheries that some private labs sponsor at every Annual Education Conference, or those  exhibitor booths where we fill our corporate-logo imprinted conference tote bags with giveaway geegaws and doodads (“Oh, I’m just bringing these home for my kids. I am certainly not going to use this lab just because they gave me a glow in the dark double helix pen and a piece of chocolate. Even if it is a Dove dark chocolate.”).

You are deluding yourself if you think these drinks and trifles do not subtly affect your selection of  a lab to run your tests. Just about every research study on this topic has concluded that those not-so-freebies do influence healthcare providers. Besides, if those giveaways didn’t help a business’s bottom line, do you think they would waste money giving them away? And when we go home and take those tote bags to the grocery like responsible Green Citizens, we become walking billboards that announce to the world that NSGC and Lab X are awfully cozy with each other.

I am not saying that genetic counselors should be unconcerned about their institutions’ bottom lines, or that the NSGC should abandon relationships with corporate sponsors. I have no idea of the magnitude of the problem because it has not been systematically studied. It is almost impossible to study it ourselves; those of us in the middle of are likely to have a hard time seeing it. Somebody outside of our profession needs to study this.

What the profession can do for itself is to clearly define financial conflicts of interest and develop guidelines to help genetic counselors navigate the treacherous waters of the Great Sea of Conflicts of Interest.

Am I being overly worried? Are there other aspects of genetic counseling that are vulnerable to these concerns? Share your thoughts and comments and air out this dusty old closet that we have avoided opening.

18 Comments

Filed under Robert Resta

My Mind’s Made Up

Continue reading

3 Comments

Filed under Robert Resta

Genetic Counseling and the Disability Community: A Cautionary Tale

A commentary by Anne Madeo, Barbara Biesecker, Campbell Brasington, Lori Erby and Kathryn Peters in the August issue of the American Journal of Medical Genetics (The Relationship Between the Genetic Counseling Profession and the Disability Community) is going to raise some hackles because it takes on the most sacred cow in genetic counseling: the belief, bordering on dogma, that genetic counselors are good.  Not just good as in the absence of bad, or good like ice cream and lazy Sundays, but good in the dare-I-say religious sense.  Good-doing.  Doers of good.  Beyond well-intentioned, because well-intentioned suggests that one might do the wrong thing by accident.  Genetic counselors are trained good-doers, there to protect and rescue patients from the less finely calibrated ministrations of other medical professionals, particularly doctors.

The perfidy of doctors is sometimes a corollary to the gospel of genetic counseling, in which it is stated that genetic counselors do good.

But I digress.  And while I am digressing, let me hasten to add that I think genetic counselors are as nice as group of people as I have ever known.  And I am not just saying that because I don’t want to get nasty looks at the next NSGC conference; I mean it.  Genetic counselors are as a rule neither cynical nor uncaring, and I have found them to be absolutely dedicated to doing right by their patients.

But you can’t do right by all people all of the time, not if you believe that doing right means supporting them in whatever they decide.  You can’t.  Let’s say a woman carrying a fetus with Down Syndrome arrives in your office.  So now you have a tightrope to walk.  Because if she decides to terminate but has the least degree of uncertainty or guilt, any positive remarks you make about DS kids (They are cute, aren’t they?  And the new research is promising…) is likely to echo in her ears as a reproach.  And if she decides to keep the baby, any negative remark you make about DS kids (They do have a lot of medical issues one should really mention…right?  And lots of people in her shoes would terminate…) is likely to be remembered as proof that the genetics people thought my baby – my baby! – should have been aborted.

Genetic counseling – if it was easy, everybody would do it.  Madeo and company don’t attack genetic counselors, nor do they underestimate the complex balancing act involved in this counseling scenario.  They do suggest that the few available studies suggest that counselors and the NSGC have been more involved with protecting women’s rights to terminate and reassuring those that do, rather than protecting the rights and interests of persons with disabilities.  Of course, this is in part because it is abortion rights that have been under siege.  They quote Arthur Caplan from 2009, advocating activism in a phrase that syntactically ties the anti-abortion movement with Naziism:  “If counselors do not speak up on behalf of their clients, who will?”  True, the authors say, and yet, they suggest– is it hard to understand that many parents of children with DS feel their babies are under siege as well?  There aren’t as many as there used to be.  They call that threatening.  We call it success (yes we do.  Be honest.  Improving our prenatal screening is not about giving parents the chance to know in advance that they are having a kid with DS.  And if it was, insurance wouldn’t pay for it).  So they would like to balance the equation. “If counselors do not also speak up on behalf of clients who choose not to terminate a pregnancy, then who will?” the authors ask of us.  “If counselors do not also speak up on behalf of clients with disabilities, then who will?

A response by the NSGC for the most part focuses on rebutting the charges that either the organization or its members fails to recognize its special obligation to those affected by genetic syndromes and genetic disease.  NSGC President Karin Dent does an admirable job detailing the position statements, collaborations, educational outreach efforts that document our commitment to people with disabilities.  We are trying, the thing says!  We do so much!  But there is something about this primarily defensive posture that denies the essence of the problem.  Defensiveness is our Achilles heel.  “I’m just a soul whose intentions are good” sings Bob Resta in his accompanying commentary, “Oh Lord, please don’t let me be misunderstood.”

As Resta correctly suggests, defensiveness over the issue of whether or not we are fair may be leading us to miss the central issue of this drama: DS births aren’t just going down, they are going down selectively.  Some communities and demographics have better access to screening and intervention; others are more willing to use them.  This is true of DS today, as it will be true of many other screening programs in the future.  The very things that in our lifetimes have been the sort of thing that can happen to anyone (there but for the grace of god go I…) are becoming the sort of thing that only happen to “some people.”

“Imagine yourself in our shoes,” writes Patricia Bauer, the mother of a girl with DS, “as the question hangs in the air at neighborhood gatherings, at the park, at the supermarket. ‘‘Didn’t you have the test?’’ someone asks, eyeing our child’s face with a raised eyebrow that seems to betray surprise, curiosity, disapproval…. If you had been a responsible parent, they seem to say, wouldn’t you have exercised your legal right to abort…”

Lurking in her words is a sociological issue of enormous proportions, one where we may exercise our board-certified ability to do good, if we can stop making the issue all about us.

2 Comments

Filed under Laura Hercher

Priorities For The Genetic Counseling Profession For The Next Decade

Lately I have been thinking about the future of genetic counseling and where the profession should be heading. What with busy work schedules, institutional budget crises driven by a shaky economy , and the emotional burdens of caring for our patients, it is easy to lose track of the bigger picture of what the genetic counseling profession should be striving for. So, over a beer (perhaps two), I decided to step back from the craziness of the workaday world and put together some thoughts about where I think our profession should be headed in the coming  years. The order of this Top Ten List does not reflect priority. In earlier drafts, I re-ordered the items so often as to destroy any test/re-test reliability. They are all critical, I guess.

Read the list. Argue some points with me. Think it over. Venture your own ideas in the Comments section. Have fun with it.

A “Top Ten” Agenda For The Genetic Counseling Profession For The Next Decennium

1)    Work on our relationship with, and develop a better understanding of how we are perceived by, people with disabilities, and their advocates.

2)    Integrate our services into the evolving landscape of widely available genetic testing for many common and rare genetic conditions.

3)    Develop, conduct, and publish a coherent research agenda about the process and outcomes of genetic counseling so we can effectively deliver genetic counseling in meaningful ways to improve the medical, psychological, and social well-being of our patients.

4)    Ensure that genetic counselors are covered providers in all pubic and private insurance plans so that every patient, regardless of socio-economic status, has access to our services.

5)    Educate ourselves to stay up to date in the rapidly growing field of genetic medicine, and encourage personal and professional growth.

6)    Develop and grow our counseling skills to ensure that all patients receive psychologically, emotionally, and culturally sensitive genetic counseling.

7)    Increase the demographic diversity of the profession to reflect our patient population.

8)    Increase the professional diversity of genetic counseling jobs and skills so that we are an integral part of all relevant aspects of clinical care, as well as policy development and implementation, laboratory medicine, academics, government services, and research.

9)    Encourage active involvement in our professional organizations (NSGC, ABGC), and with our relationships with other professional organizations, to ensure that we have a public face that reflects our priorities and that advocates for the profession.

10)  Maintain the highest quality in our training programs to ensure that the profession continues to be supplied with bright, thoughtful, ethical, empathic, and well-educated individuals.

6 Comments

Filed under Robert Resta

“Family History In Times of Siege (1945)” by Robert Resta

A full schedule, impatient with patients,

committing the mistake

of heading straight to

matters of fact

But they must tell their stories first

Facts only matter

in the setting of the heart.

§

An incendiary March night,

standing in a meadow,

looking up in little girl wonder

In the distance

Tokyo vaporizing

into hot white ash, carried by a vortex

of burning wind, transformed into

a snowfall from Hell

that calmly floated down, and covered the grass

as far as her eyes could see.

§

August, family and neighbors

crowding the barn

surrounding the only radio in the village

a silent circle of heads

weighted with shame and shock

listening to the Great Emperor

surrender their country to strangers

from across the ocean

But she was secretly relieved

Never again would her asthmatic airway

be inflamed by sirens and the musty air

of a stifling underground shelter

her mother pulling her by a stiffened arm,

protesting, in the purple dark of night

as the world exploded around her.

§

Across the Axis, a tiny girl

cried in a Dresden bunker,

unaware that her desperate mother

had raced back

to coax a stubborn father to join them

 

in the safety of the depths

Her family history erased forever

by a carpet of bombs

that rolled down the street

to arrive at the door of her house

precisely as her mother opened it

to plead with him to run for his life.

3 Comments

Filed under Robert Resta