Let me be clear about a few matters up front. I believe that the National Society of Genetic Counselors (NSGC) is an excellent professional organization that strives to be ethical and to do the right thing for its members. I have no reason to believe that any corporation has placed undue pressure on NSGC or its members. I am not suggesting that private companies are inherently corrupt or evil.  I recognize the critical role of genetic counselors who are employed by laboratories and the importance of good laboratory medicine. I am not singling out NSGC as unique among professional medical organizations in seeking corporate sponsorship. My concerns are the potential implications of the financial relationship between genetic counselors and corporate sponsors.

To get an idea of the scope of the relationship between the genetic counseling profession and corporations, go to the publicly available section of the NSGC website and view the Sponsor and Exhibitor Prospectus, titled Partnership,  Sponsorship, and Exhibit Opportunities in 2012 (http://www.nsgc.org/Education/2012AEC/ExhibitorSponsorInformation/tabid/451/Default.aspx). This document outlines opportunities for corporate sponsorship, such as becoming an annual sponsor of NSGC, an issue of the NSGC newsletter Perspectives in Genetic Counseling, welcome receptions at the Annual Education Conference (AEC), AEC dinner seminars, and AEC Plenary and Educational Breakout Sessions, among other things.

Of course, corporate sponsorship benefits all NSGC members by reducing annual membership dues and conference registration fees, and helping NSGC carry out its duty to “promote the professional interests of genetic counselors.” I could not find information on the NSGC website about how much of the organization’s income is derived from corporate sponsors; I am guessing it is not a trivial amount.

I have two concerns about corporate sponsorship. One is the potential for intended or unintended suppression of scholarly research and presentations. For example, suppose Lab A provides $3,000 to sponsor an AEC Plenary Session, $10,000 to sponsor the AEC Exhibitor Suite Welcome Reception, and $20,000 to be an  annual NSGC Platinum Sponsor. What if a presentation proposed for that sponsored plenary session suggests that Lab A’s test is inferior to Lab B’s version of the same test? What if a speaker were critical of Lab A’s practicies and policies? Would NSGC be reluctant to permit such a paper to be presented and risk losing $33,000 of support? I like to believe NSGC  and the sponsor would not suppress such presentations, but what assurances are in place to prevent this? Or, more subtly, might a researcher not even propose such a presentation for consideration to begin with, for fear of putting NSGC in an awkward position with the sponsor?

My second concern is the public perception of NSGC, an organization whose vision is “Integrating genetics and genomics to improve health for all.” Will the public believe that patients’ best interests are primary to NSGC if the organization is significantly beholden to corporations? Would public trust be further eroded if the NSGC president were employed by a company that was a significant sponsor?

So what are we to do about it? I am not wise enough to know the right answer, but options to consider are:

1)    Place no restrictions on corporate donations, with no clear-cut sponsorship guidelines or limits on the types of companies the NSGC will accept as sponsors. I think this would be a worrisome road to travel.

2)    Eliminate all corporate funding sources. I think this is unlikely to happen.

3)    Limit the amount of NSGC’s annual corporate sponsorship income such that the loss of corporate income would not threaten NSGC’s survival, and cap the amount of money that any one corporation can provide to NSGC.

4)    Limit AEC sponsorships to the Exhibitor Hall and a few other areas that do not have a direct connection to symposia, plenary sessions, and other venues for scholarly discussion.

5)    NSGC should articulate a clear and detailed policy about its relationship with corporate sponsors, something along the lines of the Council of Medical Specialty Societies Code for Interactions with Companies.  This policy should be prominently displayed on NSGC’s website and in the sponsor and exhibitor prospectus. NSGC may already have such a policy but I could not find it on the  website. The NSGC Code of Ethics addresses these issues in only the broadest terms.

6)    NSGC’s annual budget, including details of the funds derived from corporate sponsorship, should be available on the Member’s Only section of the website (it may be there now but I could not find it).

7)    Establish a standing review board, with no direct connection to NSGC or genetic counselors, to scrutinize NSGC funding sources and assure that the economic relationship between NSGC and private corporations follows widely accepted ethical principles.

8)    Take the time-honored organizational response of forming a task force to investigate the matter  and produce a formal report on the merits of the issues that I raised. The task force should include outside consultants who have no direct connection to NSGC.

9)    Ignore my concerns as the ranting of a scold who is unhappy unless he is criticizing something and hand out Bob Resta dartboards at the next AEC.

Perhaps some of these suggestions are already in place; it would be helpful to hear about them. And I would like to hear from all sides of the discussion – critics, supporters, and the confused.

Some additional thoughtful reading:

Steinman MA, Landefeld CS, Baron RB. Industry support for CME – Are we at the tipping point? NEJM 2012 366;12:1069-1071

Brody H. Clarifying conflict of interest. Amer J Bioethics 2011;11:23-8.

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.

‘Genetic determinism’ or the prevailing perception that our genes determine health and dictate our behaviour, is a misconception that healthcare providers and the genetics community tackle daily. In reality, we know that genes are only one piece of the puzzle. Our genes plus our environment and the complex interaction between the two must be considered in order gain a realistic understanding of health and disease risk.

A recent reminder of the perils of genetic determinism came in a New York Times article titled ‘Study says DNA power to predict illness is limited.’ This article reported on a study that looked at over 50,000 identical twins in relation to 24 common health conditions to determine how often one or both twins developed a particular condition. As the author reports,

Since identical twins share all of their genes, the investigators could ask to what extent genes predict an increased chance of getting a disease. Using a mathematical model, they reached an answer: not much. Most people will be at average risk for most of the 24 diseases.

So, what would the average person reading this article (or just the headline) likely take away from it? Probably: genes don’t matter.

I’ve found that I can measure how much traction a study has gained by the number of personal emails I receive from friends and family linking to a particular source. Needless to say, this was a particularly ‘hyped’ study. And one that I found quite frustrating, not because of what the findings were, but rather how the findings were being portrayed. I was not alone in this sentiment as evident by the amount of online chatter that ensued. Erika Check Hayden over at Nature News Blog nicely summed up the sentiment:

Geneticists don’t dispute the idea that genes aren’t the only factor that determines whether we get sick; many of them agree with that point. The problem, geneticists say, is not that the study… arrived at a false conclusion, but that it arrived at an old, familiar one via questionable methods and is now being portrayed by the media as a new discovery that undermines the value of genetics.

So, essentially just because your genes aren’t everything, doesn’t mean your genes are nothing.

The fact that genetic determinism continues to persist as a mainstream perception illustrates that we, as the scientific community, simply aren’t doing enough to communicate the ‘genes plus environment’ message to the general public. Or, we need to consider new approaches to delivering this message. As scientist and science writer Christine Wilcox argues:

…scientists pass the buck when it comes to communicating science. We write the papers, but then hand them off to journalists and say “here, explain this to everyone else.” … Then, we gripe and moan when the science is shottily explained or, worse, completely misinterpreted.

This argument can be extended beyond researchers to healthcare providers, and the genetics community in particular. For genetic counsellors specifically, our business is communication. Which brings us back to DNA Day: this day is not only an important initiative, but a yearly reminder that we could all be doing a little (or a lot) more.

This blog post was originally published on www.theGenoScape.com.

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

I often liken the human genome to a savings bond. When we get it, we overpay. Eventually– barring an economic meltdown (or genomic bubble)—it matures. For most of us the return on investment will be low. But for a few of us, the return on investment will be substantial.

- Misha Angrist, Personalized Medicine 2011 8(6), pg 654

Most people who have met with a financial advisor have probably used some sort of Risk Tolerance Calculator at some point in time. These calculation tools are meant to help give you and the advisor an accurate sense of the types of investments and portfolios that are likely to be right for you. My husband and I went through this exercise again recently and it was interesting for me to see how different our risk tolerances are. I started thinking that this type of risk tolerance tool could be applied in a genetic counselling context, especially with respect to whole genome sequencing.

Last week John Lauerman published an article describing his experience with whole genome sequencing (through the Personal Genome Project) and his struggle to come to terms with his results: learning he carries a potentially life-threatening gene mutation. He reviews his results with Aubrey Milunksy, a Harvard geneticist who expressed concern over the reporter’s decision to participate in the genome sequencing research project. Their conversation highlights the two very different ways to look at the same information:

“You know it’s there, but you don’t know what it means,” [Milunksy] said. “You’re smack in the territory of inviting anxiety into your life. And this may have no meaning whatsoever in your entire life.” I disagreed. The results had actually taken some uncertainty out of my life, I told Milunsky… I have a rare mutation linked to rare conditions, most cases of which can be treated. Wouldn’t it make sense for me to undergo a blood test regularly to see whether my blood counts had changed?

In my role at Medcan, I counsel healthy people who are undergoing SNP-based genomic testing for preventative health reasons. Our current testing panel is centered on: 1) common diseases 2) SNPs that have the highest level of validation and 3) health conditions where ‘actionable’ preventative recommendations can be given. Clients have the option to opt-out of receiving certain results (for late-onset Alzheimer’s disease, for example), although anecdotally very few patients actively opt-out of receiving information. Conversely, clients routinely ask about the possibility to know ‘everything.’ These individuals aren’t concerned that there is no preventative recommendations related to particular health condition, they are just interested and curious to access as much info as they can. Just like John Lauerman, these are the type of people who would participate in the Personal Genome Project, if it were available to them in Canada.

A new genetic counselling challenge

Whole genome sequencing (WGS) presents a new challenge for the field of genetic counselling. It is impossible for genetic counsellors not to think about how different our role will be in the context of clinical results of an entire genome. In my opinion, it is not necessarily the ambiguity of the results that poses the biggest challenge (most of us already deal with ambiguous results on a daily basis), but rather the sheer volume of data that seems insurmountable. Most genetic counsellors will spend about 30-45 minutes with a client discussing genetic testing for a single gene. Using our current model, it seems incomprehensible to review results of a whole genome sequence.

To date, this issue has mostly been discussed in the context of returning WGS results to research participants. In his 2011 article in Personalized Medicine, Misha Angrist argues that the ‘feasibility issue’ shouldn’t be used as a reason not to return research results. Similarly, I agree that lack of feasibility should not be a reason to keep WGS out of the clinic. There are new models of care and new technological tools that can be developed to address the feasibility issue.

Genetic counselling ’risk tolerance’ tool

So, how do you manage to provide comprehensive genetic counselling in the context of piles and piles of data? I think the key is to find a way to distinguish between what people can know and what people want to know. The obvious idea (and similar to what we currently use at Medcan in counselling about the SNP-based genome testing) would be to create a comprehensive checklist of health conditions that people would like to opt-out of receiving. For understandable reasons this would be overly cumbersome and incredibly time consuming.

A more interesting thought would be to develop a ‘risk tolerance’ tool to help identify the type of information that an individual is comfortable receiving. This, when used in the context of pre- and post-test genetic counselling, could be a way to have patients start to think about the potential implications of various types of results and whether or not this is information that they’d like to know. Personalized reports could then be generated based on categorizing findings according to (for example):

1.  Clinical validity (known disease associated vs. variants of unknown significance)
2. Actionability (definitive clinical recommendations, some clinical recommendations, or no recommendations)

There are various ways to design this type of tool and personalized report. But a built-in mechanism to provide updated reports to reflect changes in categories or changes in patient decision-making (which may shift based on age, circumstance, health status) would be important.

As far as I know, I don’t think this sort of tool is being used currently, although I’d love to hear from genetic counsellors working in WGS research settings or in those clinics that are offering whole exome sequencing for complex cases. I do think this type of tool should be trialed in a research context, so when it comes time for clinical applications we are prepared to deal with the deluge of data.

While there are clearly differences between the financial application of a Risk Tolerance tool and one that is applied to health, disease prevention and diagnostics, I think this is an important concept to consider. The same justification that can be used to argue against a one-size-fits-all approach to medicine can be used when it comes to whole genome sequencing. As patients increasingly become more involved in their healthcare, it is important that we are armed with the tools to enable individuals to decide the type of information that they want to know.

This blog post was originally published on www.theGenoScape.com

Healthcare, on the other hand, is not a gift. Healthcare, for most Americans, is a part of the compensation package. My daughter does not need to get her healthcare through her job, so instead they pay her more money. That’s how it works. And if you can’t get something through your healthcare (for free, or with a co-pay, or counting against your deductible — whatever), then it costs you extra, which means you might not get it at all.

This is the issue at the heart of all the recent fuss over the government healthcare plan, which mandates that insurance policies provided by your employer pay for contraceptives, even if your employer is a Catholic hospital or some other entity with a conscientious objection to birth control.  The compromise suggested by President Obama allows religious employers to specify that their dollars will not be used for contraceptives, which will instead be paid for solely out of the employee’s contribution to the plan.  The Catholic bishops have criticized this as merely a fiscal slight of hand, which of course it is – a slight of hand made necessary by their insistence that people that work for them cannot use their own compensation as they see fit.  For the record, gentlemen in skirts: these people are employees, not acolytes.  Once you give them the money, it’s theirs to keep.  Or to spend — on condoms or porn or Rice Krispies treats – because all that stuff is LEGAL (You know what is NOT legal?  Sex with children.  But for some reason that doesn’t seem to get the Catholic Church quite so riled up.  Makes perfect sense — there’s no contraceptives involved before puberty).

Okay, so that was a little nasty.  See what happens when you bring politics to the workplace?  That’s why so many counselors try to leave their politics at home.  But this week, candidate for the Republican presidential nomination Rick Santorum brought politics smack dab into the clinic, through a series of media appearances where he denounced prenatal genetic testing, saying that “prenatal screening, specifically amniocentesis, … is done for the purpose of identifying maladies.  And in most cases, physicians recommend abortion.”  Because, Santorum states, these tests are done to “cull the ranks of the disabled”, employers who disagree with the intent of testing should be able to insist that prenatal testing not be covered by their employee’s insurance policy.

Don’t get him wrong!  Santorum insists he doesn’t want to stop anyone from getting amniocentesis or CVS.  That would be just the sort of intrusion by government that he dislikes so much.  All he asks is that women who work for people of conscience pay for the tests themselves – not get them “for free,” as he says, by which he means that it comes out of the insurance fees that in part you pay for and in part you earn.  Instead, you have to pay out thousands of dollars for a test.  That’s not, like, stopping anybody.

Are you appalled yet? I hope so, because this is cutting pretty close to home.  Keep in mind, this guy is a couple of awkward Romney moments and a few tanks of $6 gas away from being President of the United States of America.  And surely this much ignorance on the national stage bears correcting — but where to start?  It’s tempting to focus on the low-hanging fruit.  Like, NO, Rick: most amnios do not, in fact, “lead to abortion”.  Most amnios are normal and lead to reassured parents-to-be.  And sometimes, when there is a problem, prenatal diagnosis allows us to avoid, ameliorate or even fix it.

Tempting to go there, sure.  But we don’t want to win the battle and lose the war.  By pointing to alternate uses of amnio like they were exculpatory, we imply legitimacy for the argument that prenatal testing for abnormalities is morally suspect if it is done to allow the couple to choose termination.  We suggest that really, you need some other excuse to justify testing.  And we all know that a lot of women have prenatal testing principally to check for chromosome anomalies — and that is legitimate medical care, and it’s not up to Rick Santorum or a bishop or a rabbi or an imam to decide what medical care is going to be available to them.

Where is the outrage, I ask you?  Where is the statement from the NSGC?  This is a full frontal, ill-informed attack on the fundamental concept of prenatal testing.  It could affect our patients’ ability to get care, and it is certainly having an impact right now on the way Santorum’s listeners view our practice.  Shouldn’t we be, you know, objecting?

I believe in the right of conscience.  But your right to conscience doesn’t trump someone else’s right to healthcare.  Scientologists can’t not cover psychiatry for their employees and Jehovah’s Witnesses can’t not cover blood transfusions for their employees and, as much as it pains me to say it, should the day come that I have employees, I won’t be able to not cover self-inflicted gunshot wounds. It’s true the world’s not fair – but this way, it’s just a little bit fairer.

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, 463:84-7; Ryan 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.)

♥ 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).

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.

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

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.

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.

1. NEXT GENERATION SEQUENCING

Ion Torrent Introduces the Personal Genome Machine, a $50,000 small-scale sequencer with a 2 hour turn-around time for 100,000 base pair reads. OK, this actually happened in December, 2010, but to be fair no one noticed until January. The PGM can’t duplicate the quantities of data produced by other next-gen sequencers, but its low cost, desk-top size and speed make it emblematic of the increasing availability of genome sequencing.

2. NON-INVASIVE PRENATAL SCREENING

Non-Invasive Prenatal Screening becomes a reality: Sequenom introduces MaterniT21, a Down syndrome test done on free-floating fetal DNA from a maternal blood sample drawn as early as 10 weeks gestation. Rebounding from an embarrassing episode in 2009 that began with some executives deciding to make the research data look a little more exciting for investors and ended with the former senior VP for research and development pleading guilty to conspiracy to commit securities fraud, Sequenom became the first of several competitors to offer a test based on this ground-breaking technology, which is projected to eventually offer a means of analyzing the entire fetal genome in the early stages of pregnancy, without the risks or costs (or the 2nd trimester terminations) associated with amniocentesis or CVS. In a related development: tests based on similar technology are already widely available to predict gender. The Consumer Genetics Pink or Blue Pregnancy Test is sold at your neighborhood drug store and on Amazon (but NOT in India or China!); a study published in JAMA this summer estimates that it is accurate over 95% of the time.

3. SYNTHETIC LIFE

On May 20^th, 2011, Craig Venter of the J. Craig Venter Institute announced the creation of the world’s first synthetic life form. Manufactured by adding a man-made genome (sequenced by machine) to a pre-existing bacterial cell emptied of its own DNA, the resulting one-celled organism was a wholly novel life form capable of replication.  Critics accused Dr. Venter of playing God, charges Venter vehemently denied.  “Who says I’m playing?” Venter explained.Yes — I’m kidding But he did say, in describing this milestone, “we took two years off to sequence the human genome and then got back to the task at hand.”  Here are his remarks in full, introducing the first “synthetic cell”:

4. MYRIAD QUESTIONS ON PATENT LAW

In 2010, Judge Robert Sweet shocked the world of patent law when he ruled that isolating and purifying genes did not transform them from something naturally occurring into a product of man’s ingenuity – meaning that under law, the DNA sequence of a gene was not something that could be patented.  Genes, he said, are “the physical embodiment of information,” and cannot be treated like other chemicals, where any change in the molecular structure is transformation enough to justify a patent.  In July, the Federal Court of Appeals overturned Judge Sweet’s decision in ACLU v. Myriad, ruling that genes in isolation were “markedly different” from genes in their natural form.  This decision affirmed the pre-existing status quo permitting gene patents, and set the table for a possible Supreme Court showdown in 2012 to determine the fate of DNA patenting.  The High Court has already heard related arguments in Mayo v. Prometheus, a case that hinges on whether or not observations of natural phenomena – in this instance, how the body responds to thiopurine drugs – can be patented.  Both cases will affect the development of personalized medicine in ways that are hard to predict – some experts claim that nascent technology like whole genome sequencing will never make it into clinical use if the cost reflects license fees from thousands of individual patent holders.  Others suggest that the technology will not be developed in the first place, if industry does not believe its investment will be protected.  And just to add a bit more carbon to the uncertainty of the patent law climate, on Halloween the European Court of Justice ruled that NO procedure involving human embryonic stem cells can be patented (Boo!  Scared you, European biotech!).  Their decision rests on the idea that the use of human fetal tissue for commercial purposes is contrary to public morality, and it sets up a striking contrast with the U.S., where these patents remain enforceable.

5. RARE VARIANTS

Genome-wide association studies were billed as a sort of shortcut to making genomic information relevant to clinical practice, but after years of GWAS results that provoked the response ‘that’s interesting , but what does it mean?’, sequencing for rare variants has done what studies of common variants could not do: moved genomics into medical practice.  In January 2011, Nicholas Volker was declared by Forbes Magazine to be “the first child saved by DNA sequencing,”after doctors at the Medical College of Wisconsin did full sequencing on a chronically ill 6-year-old with unexplained intestinal disease.  In October, Scripps Health launched a program using whole genome sequencing to determine the cause of idiopathic diseases.  Rare variants have also helped us keep chipping away at the notorious “missing heredity”: this fall, DeCode Genetics announced the discovery of a sequence variation that increases the risk of ovarian cancer by more than 8-fold; this highly predictive risk factor was uncovered by GWAS studies adapted to include rare variants (And you thought they were out of business, didn’t you?).

6. EPIGENETICS

In October, the International Journal of Epidemiology published an article that didn’t get a lot of press, perhaps because of the particularly opaque and not particularly grammatical title: “Associations with early-life socio-economic position in adult DNA methylation”.  The article demonstrates a correlation between early life experience and adult DNA methylation patterns, suggesting that childhood experience may create lifelong changes in gene expression and affect health outcomes into adulthood.  This finding supports earlier observations in rodents and other mammals, and it may indicate a mechanism by which epigenetic changes can be transmitted across multiple generations – evidence  in support of the widely held suspicion that epigenetics is yet anther suspect to be reckoned with in the mystery of the missing heredity.

7. GENE THERAPY

For decades, gene therapy has held itself out to be our knight in shining armor, while acting more like that bad boyfriend from high school, full of sweet talk and promises he couldn’t keep.  It’s been NOTHING but heartbreak and 12-step programs for years now (Step 1. Admit that you are powerless to control gene expression.  Step 2. Find a vector you can believe in…).  Finally, SOME ENCOURAGING NEWS!  In separate studies published this year, researchers reported encouraging early results for the use of gene therapy to treat both SCID and Hemophilia B.  Has the bad boy of the genetics world really matured into a responsible citizen, or is gene therapy going to go Charlie Sheen on us yet again?  Give him another chance, venture capitalists.  Give him a chance, okay?  Just don’t give him a key to your apartment.  Not yet, anyway.

8. CONSUMER-DRIVEN GENETIC TESTING

American Association of Blood Banks 2011 report indicated that paternity testing has increased 400% over the last two decades.  This evidence supports the notion that the public is increasingly comfortable with the use of genetic testing outside of conventional medical applications.  The Identigene Paternity Test Collection kit is available at Walgreens for $27.58 (with an additional $129 lab fee; more fees are required for results that are admissible in court).

9. REGULATION OF GENETIC TESTING

In June, letters from the FDA sent to personal genomics firms 23andMe, Navigenics, DeCode Genetics, Pathway Genomics and Knome as well as the chip maker Illumina, articulated an evolving consensus within the agency that genomic tests constitute a medical device and should be subject to regulation under the FDA mandate.  The letters, which followed the announcement of a Pathway Genomic’s plan to market direct-to-consumer testing through the drug store chain Walgreen’s, represented an opening salvo in the orchestration of a regulatory structure for genetic testing.

10. NOVEL TREATMENTS ON THE HORIZON

In September, 2011, researchers at Vanderbilt University announced a major step forward in the development of a potential new therapy for Fragile X that targets not the symptoms but one of the underlying causes – a paradigm shift in medical care for the type of genetic syndrome long considered untreatable.  Building on earlier studies that demonstrated a relationship between excessive protein synthesis and the Fragile X phenotype, the Vanderbilt approach uses novel drug-like molecules that down-regulate the mGlu5R receptor to reduce receptor-mediated protein synthesis.Researchers are hopeful that this therapy will improve neurological manifestations of Fragile X, which often include autistic-like behaviors – raising the tantalizing prospect that success might constitute proof in principle of our ability to treat autism and other cognitive and neuro-developmental disorders.  Seaside Therapeutics, the industry money behind the Vanderbilt studies, plans to begin its clinical trials in 2012.  Meanwhile, the continuing Seaside-Vandy partnership is at work on development of a second drug, designed to reduce social withdrawal.  In a report released to the press by Seaside in May, V.P. of research Aileen Healy stated, “We are now beginning to believe that intellectual disability is not, as previously understood, an immutable condition.Translating our understanding of the biological effects of key genetic mutations has revealed a variety of promising mechanistic approaches to treat Fragile X syndrome, which I believe represent an exciting opportunity to realize the mission of developing effective therapeutics.”How 2011 is this story?  Let me count the ways:

1. Research illuminates the pathophysiologyof the disease, providing new targets for therapy – just like those guys from the HGP said it would!!!
2. New information suggests that a familiar syndrome is more complicated than we thought – and that damage caused by the genetic defect, as with Down Syndrome, is only partly congenital and accumulates over time.
3. Cutting edge therapy involves interfering with gene expression.
4. Academia partners with industry, to find scarce recession-era funds – and to participate in the profits, should any materialize.
5. Industry partners with academia, to help defray the burdensome investment of time, money and brainpower associated with drug development.
6. Some things we expect to be easy turn out to be impossible.  Some things we expect to be impossible turn out to be – well, not easy, but possible.  In 2011, trying to predict the winners and the losers is a fool’s game (which is why I am recapping 2011 here, and making NO predictions for 2012).
7. Treatments for genetic disease that decrease morbidity and improve outcomes but do not cure will require life-long treatment – raising serious new questions about how we will be able to afford what we are able to do.
8. And the most 2011 point of all: this new therapy is great in theory but it hasn’t helped anyone – not yet.