Emerging Technology vs Old School

I don’t know about you but I have a love-hate relationship with technology.  It can make things simpler but it can also make things more difficult.  There are days where I miss old school…..you know….regular paper and pens.  There are also days where I am thankful for oodles of information available at a click.

Regardless of if you love or hate technology, we are in the middle of a technology revolution.  We  have to figure out ways to incorporate technology into our profession in positive ways.   We cannot ignore this revolution.

There has already been some resistance to the incorporation of technology within our profession.   There has been a lot of valid concerns about direct-to-consumer services, telephone genetic counseling, and online family history/pedigree programs.

Patient 2.0 is the concept where people meet online to discuss their health, clinical trials, which hospitals to avoid, which doctors to see, and treatments.  While this encourages people to take charge of their health it can be a danger if they believe inaccurate information found online.   Does Patient 2.0 do more harm than help or is it vice versa?

You can even ask healthcare questions on Twitter.  You can easily search for genetics apps on your iPhone/iTouch.  Some of these apps include; MGenetics, PubSearch, NextBio (correlated data from all public gene expression experiments), Odd Diseases: Genetics, and BioGene).  You can even listen to podcasts or genetic lectures at iTunes U.  If used correctly, apps could be developed to exposure middle and high school students to  the field of genetics.  Apps could also be developed as study tools for genetic counselors, however, we should not depend on these apps.

*Start rant:  Most podcasts and lectures are NOT captioned.  If you ever find yourself making a podcast please subtitle, caption, or make a transcript available.  THANK YOU! *End rant* 🙂

There is a new form being formed and it is a group with full access to technology.  What about those who do not have access to technology (e.g. Internet)?

Two concerns I would like to touch on:

1)      Should healthcare information online be regulated?  Should we start exploring ways to teach the public the limits of technology (e.g. don’t believe everything you read online)?

2)      It is easy to get lost in this technology revolution.  There will soon be a forgotten group.  People who do not have access to or do not feel comfortable with technology will be left behind.   How do we make sure this group will always have equal access to genetic services/information?

How can we combine the pros of both technology and old school in order to provide high quality genetic services for EVERYONE?

Thoughts?

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Filed under Kelly Rogel

“Just Say No” Doesn’t Work in Genetics Either

As Bob Resta’s post here on the DNA Exchange ably illustrates, genetic counselors have lots of reasons to take an interest in the Counsyl Universal Genetic Test.  Is it being oversold?  Probably – here are a couple of reasons why Universal is not universal:

  1. The company cites a high accuracy rate for detection of mutations – but of course they only mean the detection of mutations on the panel, which means it gets many but not all – this distinction would likely be lost on the average consumer.  And in the same vein, accuracy does not measure how many of these very rare mutations may be non-penetrant or benign.  It is hard to tell how often we will be suggesting unnecessary intervention, including extreme measures like PGD.
  2. People might understandably assume that “universal” means ALL diseases, rather than  a subset of rare diseases with a recessive etiology.  The specifics are there in the fine print but I’m just saying…

I imagine many counselors are leery of the Counsyl test because they suspect the people for whom expectations exceed performance will land in their laps, angry and frustrated.  This must be something akin to how the sanitation department feels about tickertape parades.

Then again, the Counsyl test has a lot to like:

  1. Great value.  The test offers information on 100 diseases for the same cost as we often see for information on one or two diseases.
  2. Accessibility.  A DTC test enables people who live far from any purveyors of genetic services.  Sometimes the question is not is this the best way? but is this better than nothing?
  3. Focus on rare diseases.  These are the orphan diseases – the ones that can’t get any attention unless Susan Sarandon or Harrison Ford make a movie.  This test may expand our ability to reduce the number of families who have tragic outcomes.  The Times cites critics as saying this is a step toward designer babies but if this is some exercise in vanity than so is EVERYTHING WE DO.  Seriously.

Saving babies, cost, accuracy, uncertainty – these are issues we have seen before, balances to be struck.  In fact, we make these decisions all the time.  What is really new about the Counsyl test is not the questions we must answer but the fact that no one is asking – it is not up to us!  Although genetic counselors have always prided themselves on allowing patients to make decisions, they have always been in control of the flow of information – of how much information was necessary to make a responsible decision.  Of what information was extraneous, and what information potentially dangerous.

Naturally our response to innovations like the Counsyl test is to debate whether or not the information in it is more likely to help or to harm our patients – just what I was doing when I made my list above.  It’s not a bad thing do, and I welcome comments on my Reader’s Digest version of the pros and cons, because counselors out there have a lot to add on that debate.

But we can’t universally confine our response to trying to weigh in on whether or not it is a good idea to allow the information to get out there unimpeded.  Why?  For one thing, it is a waste of time.  Trying to impede the flow of information in the 21st Century is a pastime for Luddites.  Harping on it will make us about as relevant as Amish fashion critics.  Sure – everyone does look good in black, but people are going to be wearing fuschia and even mauve.  It’s a fact of life.  I like clothes with zippers.  There are those moments when button-fly jeans are just too slow.  You know what I’m talking about.

Plus, reflexively, we should be for and not against the free flow of information.  This is America – land of the free, not land of the carefully vetted.  The nature of information is that it is confusing as well as enabling, and an excess of it does not diminish the importance of expertise – it creates an opportunity for expertise.  Let people get information and they will come looking for clarity.  Liz Kearney, the new president of the NSGC, has written persuasively about the need to establish an NSGC “brand.” She’s right.  We need a brand, and we need our brand to stand for credibility, clarity and unbiased scientific accuracy – something that will stand apart from all the information, accurate and otherwise, that comes from people who have something to sell, like the Counsyl Universal Genetic Test.

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Filed under Laura Hercher

Counsyl, Counselors, and Counseling

Recent discussion on the NSGC listserv – and an article in the NY Times – has centered on the policies of Counsyl, a private lab that offers carrier genetic testing for more than 100 mendelian disorders.  Specimens can be submitted to the lab directly by patients, without a healthcare provider’s signature – and therein lies the rub, at least for genetic counselors.

For the moment I want to set aside discussion about the appropriateness of testing without counseling, accusations of corporate eugenics, and the ethics of direct to consumer marketing. To be sure, there are valid points to be made by both sides on these weighty issues. Instead, though, I want to critique the company’s website, and offer suggestions for resolving some of the problems surrounding on-line genetic testing.

On the surface, the website seems benign enough. The home page prominently displays the company’s values, all of which would meet genetic counselors’ approval.  Counsyl recommends speaking to a licensed genetic counselor or other qualified professional either before or after testing, with on-line links to locate one. Virtually all of the conditions they test for are serious, with none of the trivial traits like earwax type and eye color that some labs screen for. The site provides information and resources about the diseases (most of which challenge my store of clinical genetics knowledge). The test is reasonably priced and uses saliva rather than blood.The company offers financial aid for those who cannot afford testing, and offers to work with non-profit groups and NGOs.

But for all its dispassionate presentation of numbers and information, the website subtly manipulates consumers and could play on their fears and guilt. Let me highlight a few of my areas of concern; you can probably find a few more on your own.

  1. Each year millions of healthy parents are taken by surprise when their children are born with life threatening disorders” the site proclaims.That may be true globally, but most readers will use their own country as a frame of reference. Of the 4 million plus babies born in the US, the number born with the tested conditions is probably in the thousands. Certainly a sizeable number, but several orders of magnitude less than the website proclaims.
  2. For all diseases, the site provides data on carrier frequency but not disease frequency. 1/28 – the cystic fibrosis (CF) carrier frequency – sounds a lot scarier than the disease frequency  of 1/2300, and far more frightening than telling an untested couple they have a 99.9% of NOT having a child with CF.
  3. Hispanic/Latinos are said to be at increased risk of having a child with CF: “Two diseases are particularly prevalent among Hispanics: sickle cell disease and cystic fibrosis.” Yet the CF carrier rate cited for this population is 1/46, which is roughly half the carrier rate of Northern/Western Europeans.
  4. Of course, what parent would not be tested for a condition that can be cured or treated? The company claims that the testing can be “life-saving” and that “many treatment options exist” – then offers the following treatment options: preimplantation genetic diagnosis, sperm/egg donors, mental preparation, watchful waiting, and early childhood treatment.  Four out of five of these options have nothing do with treatment. And the vast majority of the diseases in question have no cure; treatment is usually symptomatic not preventative. Although PGD and sperm/egg donation is an option for a few couples, prevention really means abortion of affected fetuses. I could not find the word abortion anywhere on the site, though I did see a reference to “reproductive intervention.”
  5. The test is said to be 99.9% accurate. It would be more appropriate to say that the test is 99.9% accurate for the specific mutations that are being assayed. However, I suspect that samples are not being screened for all mutations at these disease loci, just the most common (I could not find an answer to this on the website).
  6. The website does not indicate that many newborns are already being screened for some of these conditions. And in the  site’s discussion of thalassemia, there is no mention that virtually all pregnant women are already screened reasonably effectively and cheaply for carrier status of this disorder with a CBC at their first prenatal visit.

I do not mean to imply that Counsyl is an evil or sub-standard laboratory. They are likely very sincere and dedicated in their desire to help people. Being a for-profit lab, though, their marketing needs to be aimed at, among other things, maximizing income.

We can sit around and tut-tut about on-line genetic testing. But like it or not, we are probably going to have to learn to live with some form of it. I therefore offer two suggestions to help us and our patients approriately utilize testing resources.

First, the National Society of Genetic Counselors should form a Laboratory Advisory Committee. For a fee, this committee would review a lab’s website and policies. If the lab passes muster, the lab can proclaim itself “NSGC Approved”. This could generate income for the NSGC, and allow us all to feel more comfortable if patients utilize approved sites. Obviously, the potential for conflict of interest and legal vulnerability is enormous, but this is a difficult – not an insurmountable – problem.

Secondly, genetic counselors need to conduct research to determine the validity of our concerns about on line testing and direct to consumer marketing. Is the medical and psychosocial harm as great as we expect? Some large studies such as the Scripps Genomics Health Initiative are under way, but it will be 15-20 years before this study is complete.  No doubt each of us can provide anecdotes that support our contentions, but these prove nothing. We need to collect data, figure out what it is telling us, and move forward from there.

We can point our fingers at on-line testing – or we can use our fingers to point the way.

__________________________________________

Post: See Laura Hercher’s take on the topic here.

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Filed under Robert Resta

Testing Your Limits

We genetic counselors take great pride in our role as patient advocates. Everyone is equally deserving of our best professional skills and unbiased support. Rich, poor, immigrant, homeless, transgender, disabled, non-English speaking …. we like to think that none of it makes any difference. We give them all our best non-directive shot.

On occasion, though, we encounter a patient who compromises our desire and ability to provide unbiased, empathic care. This may stem from subtle counter-transference issues, like the patient who evokes your ex-spouse or a client who is overly demanding and obnoxious. With professional growth and supervision, we can learn to deal with such situations.

But eventually you find yourself with a patient who makes you stop and say to yourself “You know, this one is crawling under my skin. I’m not sure I can be a good genetic counselor for this person.” Let me give a (hypothetical) example of patients who might evoke such deep feelings.

Osama bin Laden and Ayman al-Zawahiri, the two leaders of al-Qaeda, are arguably America’s greatest and most reviled enemies. Both men also have families. One of bin Laden’s 22 children, Abdul Rahman, was born with hydrocephalus (1/22 is approximately equal to the semi-mythical 3% risk we are so fond of quoting to our patients; congenital anomalies blindly cross all religious and ethnic boundaries). bin Laden flew his son to the UK for treatment, but declined a shunt, and instead chose to treat him with honey, a common folk remedy in the Arabic world.  al-Zawahiri ‘s fifth daughter, Aisha, had Down syndrome, born after nearly 20 years of marriage (the effects of advancing maternal age also are oblivious to culture and creed). Aisha died at age 4 of exposure to freezing temperatures the same night her mother was killed in an air raid as the family fled Afghanistan during the early days of the war.

What if one day you walked into your office and there sat either bin Laden or al-Zawahiri, seeking your clinical help? Could you dispassionately provide your best genetic counseling skills to these men? I, for one, would have a hard time. But our ethical system only works when it works for everyone, not when it is selectively applied.  Lawyers know this well, and that is why they defend even the most evil criminals.

The example is admittedly extreme and, not least of all, unlikely.  However, the information about bin Laden’s and al-Zawahiri’s families is neither fictional nor a wild Internet rumor; it is taken from The Looming Tower, Larry Wright’s superb Pulitzer winning book about the rise of al-Qaeda. I use the example to illustrate the point that we all have our limits, but those limits may be very different for each of us.

Which patients challenge your ability to provide genetic counseling? Would you be deluding yourself if you believed that your ability to engage all patients knows no limits? I encourage you to leave comments below – I am interested in hearing your thoughts and experiences.

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Filed under Robert Resta

A less common motivation for prenatal diagnosis

As I explore a woman’s capabilities and values in decision making regarding pregnancy and testing, I sometimes uncover unexpected underlying motivations for the genetics consultation. One area that intrigues me and is not often discussed (if at all) in the literature is the desire for what is typically deemed a “poor” outcome.

I believe it is integral for the prenatal genetic counselor to understand the circumstances surrounding a conception – was this a desired pregnancy? Did it take a long time to conceive? Is the patient ambivalent about the pregnancy? There are times when I have I realized a pregnancy was unplanned and the patient did not wish to continue the pregnancy, but did not feel comfortable with abortion or an adoption plan.

To such individuals, prenatal diagnostic procedures can be the beacon of hope, the ticket to diffusion of responsibility. If a miscarriage occurs as a result of the procedure, the patient can take comfort in the justification that she was testing to ensure the health of her pregnancy and that the miscarriage was beyond her control. If a diagnosis of a chromosomal issue is made, the patient can feel further justified in pursuing an abortion feeling she does not want to bring a child into the world who may experience undue suffering.

If a patient desires a procedure because she has a hope it will increase her odds for miscarriage or the diagnosis of an anomaly and thus, facilitate a more passive act than actively terminating a healthy pregnancy, do you feel the procedure becomes unjustified? In medical world where (gratefully) diagnostic procedures are offered to everyone and termination is available for any reason, I believe the answer is no. But it is a key moment in counseling to explore the meaning/implications of the pregnancy for the patient and the ramifications of both a healthy or atypical outcome after diagnostic testing.

The genetic counseling relationship must extend further in this case when a diagnosis of a healthy fetus with 46 chromosomes is made just as it would when a diagnosis of Trisomy 18 discovered. The genetic counselor must continue to engage in the decision making process regarding the pregnancy, and if she uncovers psychological defenses and processes that are too complex for the GC to work through, she must refer to a social worker/appropriate counselor. Remember, the quality of a decision is often a function of the decision process itself more than outcome. I think if a patient can look back on a decision and feel she spent a great deal of time considering her values, beliefs, and desires, she can feel more comfortable with her choice whether it be to continue, terminate, or make an adoption plan. We can not simply inform the patient the results are “normal” and move on.

We often think about prenatal diagnosis in terms of the quest for the perfect child, the reassurance of a healthy child, the ability to prepare for a child with special needs, and the availability of making decisions in favor of termination the face of a difficult diagnosis. Often prenatal diagnosis is tied to a desired pregnancy where there is parental desire to feel some degree of control over their and their child’s future. But what I am thinking about is in opposition to this, an undesired pregnancy where there is parental desire to have little control over the outcome, to be in a situation where the individual does not wish to bear the burden/responsibility of making a decision against continuing a pregnancy. We must also remember that this all may backfire on the patient if a miscarriage really does occur or if a prenatal diagnosis is actually made. The patient may then begin to feel a great deal of responsibility, remorse, guilt, and shame that was unexpected. You have to be prepared for this as well.

We all make decisions hundreds of times a day that we are not conscious of, not challenged by. Sometimes decisions about prenatal diagnosis appear to clear cut and our patients may even describe them in this way. But we must be astute enough to recognize when this is not the case and engage the patient enough to openly talk about her thoughts and help her anticipate the myriad of potential genetic and emotional outcomes. And we must be prepared to effectively make appropriate referrals when the patient’s psychological dynamics are too complex for our training to unravel and assist.

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Filed under Jessica Giordano

Intellectual Climate Change: Can we Survive the Rising Sea of Data in the 21st Century?

Happy New Year!  It’s a whole new decade – time for some summing up, and some looking forward.

If I had to pick a defining image of the last ten years, it would be a tidal wave – a wave as big as the wall of water that drowned New Orleans, as big as the Christmas Day tsunami of 2004 – a flood not of water but of information that has broken over our collective shores.  Google search “information overload” and Wikipedia (result number 1 of 3,060,000) defines it as a condition resulting from the near instantaneous access to too much information, “without knowing the validity of the content or the risk of misinformation.”

The fact that our ability to produce and disseminate information has entirely outstripped our ability to analyze or fact-check is a reality of modern life.  To be sure, genetics is no exception – what with aCGH and the HGP and GWAS and other technology-driven acronyms spewing out data on the one hand, and the Internet on the other, where PLoS shares server time with the Discovery Institute, generator of creationism repackaged to resemble scientific research.

We might be forgiven for thinking, some days, that genetics is the ground zero of information overload.  But it’s not.  It’s happening everywhere.  Genetic counselors are often appalled at the giving out of genetic information willy-nilly – witness the response on the genetics community to such unwelcome friends in the sandbox as 23andme or DeCodeme – and the knee-jerk reaction is to say that genetic information is special, uniquely powerful, and must be given out by those with specific education and counseling skills (Hey!  That would be us!).

This type of thinking runs along the lines of genetic exceptionalism – the notion that genetics is fundamentally different than other sort of information and must be treated differently as a result – and while in some ways it may be right, it is also increasingly unrealistic. Yesterday’s PhD thesis work is tomorrow’s home-brew chemistry experiment, and microarrays are changing the economics of testing so that panels that once checked for 8 or 9 conditions now check for 300, while full-genome sequencing lurks around the corner, the paperback version of the HGP, available soon on Amazon.com.

What can we do, not to be the ones with our finger in the dike as the information tsunami rises around us like ocean water lapping at the Maldives?  We can’t cut off the flow of information.  We often call for commercial companies to give out information through genetic counselors, but is that really a solution?  The idea of commercial entities that do it “right” rather than “wrong” is comforting, but self-regulation poses inevitable conflicts of interest.

We may have jobs, perhaps good jobs, from companies that need genetic counselors to explain their products to consumers, but that doesn’t mean that, for genetic counselors as a whole, jobs within industry are a solution to the information overload dilemma.  Drug companies hire doctors to promote their pharmaceuticals, and while there is nothing wrong with working for a drug company, employing physicians is not the functional equivalent of a regulatory framework.

Across all fields from journalism to philanthropy, people are discovering ways to act as the mediator between the flood of information and the end users. The next-generation winners in information management are those who will be able to sift through and shape the available data flow into a manageable and trusted form – information brands.  We need to be consumer reports; we need to be wikipedia; we need to be CNN – we need to be a trusted filter that distinguishes true and false as well as necessary and unnecessary for the consumer of genetic information.  Jobs within industry will flow from that branding – what else do we bring, that a pamphlet or a webpage could not just as effectively communicate? – but they will not create the brand.  What will?  That is the million dollar question.

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Filed under Laura Hercher

Learning from the Naturopathic Model

I recently sat down with Jill Davies, a genetic counselor who is doing some really interesting work with genomics and preventive medicine in the primary care setting.  I won’t get into the details here, as I am hoping Jill will describe her role in her own words on DNA Exchange in the next little while. But our meeting has my wheels turning and has given me some new found inspiration about future career possibilities.

Coincidentally, the evening before my meeting with Jill, I attended my first naturopathic medicine appointment. My new family doctor has a patient share with an in-house Naturopathic Doctor (ND), in which my electronically stored medical records can easily be shared between the two. I’ve always been a little curious about naturopathy, and the pure ease of this system provided the added boost to follow through and try it.

During my hour and a half appointment with the ND we discussed in detail my medical history, family history, health concerns and general health goals. My main reasons for seeking naturopathic services are:

  1. the prevention of disease
  2. optimizing my health

As I discussed these goals with the ND it struck me that these very same objectives could drive me to seek personal genome services. I’ve always thought about personal genomics from an academic perspective, and to my surprise, never really put myself in role of the consumer. I’ve certainly thought about the consumers, but always as some abstract group of people most commonly referred to “early adopters.” So for the first time I could envision these services not just as a DTC internet purchase or as a function of specialty medicine, but as part of the primary care setting.

It is not my intention here to debate the efficacy of nutrigenomic products (such as Carolyn’s The DNA Diet, for example) or even the use of genomics in naturopathic medicine, but instead present the current model of naturopathic medicine as a potential model for personal genome services.

Consider this:

People seek naturopathic medicine services for a number of personal reasons. They meet with a professional with specific training in naturopathic medicine, and discuss their concerns. The naturopathic doctor then uses whatever “tools” they feel are most useful to address those concerns. Sometimes the knowledge gained from this service will be used to compliment the patient’s primary medical care, and sometimes not. In settings with a patient-share system with a family doctor, any test results can be easily shared between the two providers to enhance patient care. Generally, the patient can claim at least part of the cost of naturopathic medicine services from their private health insurance plan.

If you read the paragraph above again and substitute “personal genome” for “naturopathic medicine” and “genetic counselor/geneticist” for “naturopathic doctor,” does this seem incredibly plausible to you? It sure does to me.

_____________________

(initially posted on herNaturehisNurture)

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Filed under Allie Janson Hazell

Happy New Year from DNA Exchange!

When we started this blog a little over 7 months ago, we had no idea what sort of response we would get.  The morning that DNA Exchange went live and we sent the initial note out to the listserv, I was really nervous about how it would be received. My fears were clearly unfounded; I’ve been excited and encouraged by the overwhelmingly positive response from our community, with an average of over 4000 visits to the site each month.  Thank you to all of you who come back every week to read about and weigh in on the issues that we choose to highlight here.

In 2010 the goal of DNA Exchange remains the same: the promotion of public discussion about genetics and genetic counseling related issues. We hope that this discussion will continue to grow within the GC community and that we’ll see a host of new guest bloggers in the new year. We also aim to have some other stakeholders provide guest posts in the upcoming months, in order to further broaden the conversation.

We are planning a few small changes for the new year:

  • We have a new domain name: www.theDNAexchange.com. However, our old domain (www.dnaexchange.wordpress.com) will still redirect you here.
  • We are planning a new monthly feature called “GC Alerts” in which we will highlight what is being said about genetic counselors and genetic counseling on the web.
  • Finally, we are sending out an open call for a new header photo for the site. If you have an image that you think would work well for our blog header, please pass it along.

Happy and healthy new year to all. Thanks again for supporting what we do here. If you have any suggestions about how we can make things better, we are all ears.

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Filed under Allie Janson Hazell

Practicing What We Preach: Genetic Counselors, Disability, and Advocacy

Disclaimer:  I do not consider my deafness a disability, however, society defines it as a disability.   Therefore, I utilize quote marks and refer to it as “disability.”

As genetic counselors we are trained to respect and advocate for patients.  We are also trained to not to make pre-assumptions about their strengths, skills, and weaknesses.  Our training doesn’t always seem to apply outside of the counselor-patient setting.

As a deaf person, I knew it would be a difficult journey when I first applied to genetic counseling programs.  Little did I know how difficult it would be as a deaf person to find my place in this profession.  Genetic counselors learn about many different genetic conditions and work with many people who have various genetic conditions.  Oftentimes these genetic conditions fall under the category that society labels “disabilities.”  Even though I do not consider myself to have a “disability,” other genetic counselors sometimes took a different view.

Here are just a few of the barriers I have faced in this field because of my deafness:

  • I have been rejected from genetic counseling programs solely because I was deaf.
  • When I was invited for interviews for genetic counseling programs, I didn’t always have an interpreter available for the whole interview.
  • I was told by rotation supervisors that deaf people should not be genetic counselors.

The list goes on and on but my personal struggles are not the main focus of this post.  I just used some of my personal experiences to serve as examples.

Fortunately, these attitudes are not universal among all genetic counselors.  I have had some positive experiences during my brief career.  For example, I have never had people advocate for me as much as some groups within this field have.   It wasn’t until I started graduate school that, for the first time in my life, I truly felt like there were people out there who did want to see me succeed and were willing to go out of their way to advocate for me.

The barriers I have faced within this profession has made me question how genetic counselors truly view people with “disabilities.”  It has made me question if genetic counselors feel equal or above their patients who have “disabilities.”  Do genetic counselors serve as advocates because of some sort of deep need to help “poor unfortunates” or do they like being in the helper role and not because they truly want to see their patients be successful?  This is a very difficult question to ask of the profession and of ourselves.

I am playing the role of the devil’s advocate here.  This is not intended to be an attack against the genetic counseling profession.  Rather this post is intended to hopefully encourage genetic counselors to question why they may advocate for a person if they’re a patient but not if they’re not a patient.  What does it tell us about ourselves? Why does it appear that the role of serving as advocates have boundaries?  Where are those boundaries?  Should there even be boundaries?

Does it mean society’s attitude towards people with “disabilities” is so powerful and ingrained in us that we have to be specifically trained how to advocate and be on neutral grounds when counseling patients?   Does it mean our training is not good enough for it to cross over in all other aspects of our profession?

Is it that “disability” seems to go hand in hand with being a patient and it’s hard to separate those two?  Is it time to change our perspectives of people with “disabilities” to more than just patients?

I know it is possible for genetic counselors to pull together and advocate for other people.  My question is why doesn’t this happen on a more consistent basis?

Do genetic counselors need to analyze their perspectives on “disabilities” more thoroughly?  How can this be done?  I would love to see this profession become more welcoming to those with “disabilities” instead of constantly questioning their ability.  Oftentimes what one may see as a “disability” is that person’s strength.

I have seen this profession make attempts to make this field more diverse.  Usually diversity is thought to include people from different socioeconomic, ethnic, and religion background.  Why can’t diversity include people with “disabilities?”

I have learned so much from people within this field who have pulled together to advocate for me when the profession tried to work against me.  I want to make this field more accessible to people with “disabilities.” I want to pay forward what I have been given.

I genuinely want to hear your opinion regarding this topic.  It’s the only way I can start to understand why there are so many barriers within this profession and why we only seem to apply our training in certain settings (e.g. patients vs. professionals).

Changes won’t happen until we understand.  To understand something, we need to explore and question things.

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Filed under Kelly Rogel

A Ghost From Christmas Past (Gate B4)

 

Not uncommonly we run into our patients outside of the workplace – in supermarkets, restaurants, and the like. When this happens, patients are usually friendly and chatter pleasantly while we frantically try to recall their names and what had brought them to our clinics. It can even be amusing, like the time my (then) 4 year old daughter and I were in the dressing room of the community swimming pool, buck naked, when the guy next to me stared at me for a bit, then exclaimed “Hey – I recognize you. You’re Bob Resta. You called us with some great news the other day. I can’t wait to tell my wife I saw you.”

Sometimes, though, these chance encounters are awkward and complicated.

It was just before Christmas in the late 1990s. We were at the airport to pick up my daughter who was returning home after having finished her first semester at college . Watching your child become a young adult and start life’s journey evokes many conflicting emotions, but after four months apart mostly you are excited to see your kid again.

In the eyes of our offspring, parents are capable of the most acutely appalling acts that are a constant threat to a teen’s cool quotient. Once we recognize this, it becomes parents’  – well, mostly fathers’ –  life mission to engage in embarrassing public behaviors, in loving payback for their children’s you-are-so-geeky-old and you-are-not-related-to-me attitudes toward their hopelessly unhip elders. Lest my daughter forget what she had escaped from four months earlier,  we decided to greet her at the airport wearing low-budget reindeer antlers resplendent with miniature holiday decorations.

This was a more naive time when you could still greet passengers at the gate and you weren’t confined to waiting behind the luggage carousels far from where loved ones have exited their planes. Our excitement grew when the PA announced her flight’s arrival at Gate B4, antlers perched on our heads in full kitschy splendor, grins locked on our faces in anticipation of her eye-rolling horror.

The first passengers emerged at the gate, wearing a slightly confused look as their eyes and brains adjusted from the cruelly close horizon of the seatbacks in front of them to the hustle and bustle of a busy airport. I was scanning for my daughter among the exiting passengers when the foremost one approached me. “You’re Bob Resta” she said in a flat, low tone tinged with grief at its edges. “Last Christmas you called me with the most devastating news of my life. I will never forget your voice or what you said to me.” At a loss for words, I looked at her, unable to remember anything about her. She paused for a moment, looked a little longer into my eyes,  and then continued on her way.

Amid the background airport din, I could barely make out Joni Mitchell’s melancholy voice, “I wish I had a river /I could skate away on.” Shell-shock replaced my smile. One of my reindeer antlers drooped and its miniature candy cane decoration dangled helplessly. My gaze returned to the departing passengers but I lost track of why I was waiting there.

 

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