Wishful Slacker

Sneak peek at the new Lurie Children's Hospital

They have been taking us down to the new hospital in small groups for orientation and I thought I would share some of my pictures with you. It is a very impressive building!

Ann and Robert H. Lurie Children's Hospital of Chicago, opening May/June 2012

On Genetics and Us

I was once cornered by an individual who began firing off questions about personalized genomics.  He had done his research.

"Do you know how many conditions companies like "23 and Me" can test for?"
No.
"Now I read that all of us are carriers of at least 7 or 8 recessive genetic conditions.  Is that true?"
Yes.
"Well, how do they know that is true?  Have they tested everyone?  Do they revise that number over time?  Have they tested the eskimos?"

Anyways, this went on for several minutes, but the topic is one that I have found particularly interesting since grad school.  Now, I am not as much interested in WHAT these new personalized genomics companies have to offer.  Rather, I am more interested in people's responses to learning that they could potentially have access to this very personal genetic information.

Here's the deal.  When we think of "genetic disease," we frequently think of what we call "single gene disorders."  One gene has a mutation, and that mutation leads to that individual being affected with a genetic condition.  One gene, One disease.  Sickle cell disease.  Duchenne muscular dystrophy.  Cystic fibrosis.  You get the picture.

Over time, we are learning that the majority of conditions and diseases do not fit into the "one gene, one disease" category.  Rather, these fall into the category of multifactorial disease, which means that there are likely many, many genes, and many, many environmental factors, that all interact with each other.  Line up certain genetic variations with different environmental prompts, and you have a complex multifactorial condition.  Lupus.  Multiple sclerosis.  Type II Diabetes.  Parkinson's disease.

Several direct-to-consumer companies have developed genetic testing that can be ordered from a private individual's home and sent directly to a lab with no doctor involved.  Some of these companies have genetic counselors, others do not.  Some of these companies help their customers and their customers' physicians interpret their results, others do not.  Several of these labs do offer testing for single gene conditions on their panel.  In addition to testing for known single gene disorders, many direct-to-consumer companies also offer risk assessments for common complex and multifactorial diseases.  A big area of research at the moment involves trying to locate variations in our genes, or polymorphisms, that could confer an increased RISK for a condition.  What this means is that this polymorphism, in conjunction with other genetic and environmental factors, could lead to disease.  As you can imagine, the confounding variables in these studies are numerous (for example, did this polymorphism influence this disease, or was it that this individual lived next to a tire manufacturing plant for 30 years?).  There is still much to learn in this area, and many feel that we're far away from giving accurate risk assessments for individuals based on our current limited knowledge of the diseases that affect people today.

Here is what interests me.  Many people, probably including the individual I mentioned above, would be a kid on Christmas morning if they could get their hands on their own personal genomics report.  To be able to say, "well look at that, they found that I carry a risk factor for heart disease" holds great value for many.  But what will they do with that information?  In grad school, we had several discussions about where the health focus should be in today's society.  We all support the research and advances that have developed over the years in treating single gene disorders and the testing that has allowed other family members the ability to know if they are at risk.  But what are the greatest concerns for the health of people in developed nations in this world? 

The modern lifestyle that has brought us so much has also been dangerous to our health, despite the amazing health care gains that have developed over the past 100 years.  There are numerous medical conditions that affect low-risk individuals for reasons we do not understand.  However, for many of us, our risks for disease would decrease significantly if we were to change our daily habits.  It is difficult to leave the comforts that bring us pleasure, like smoking, the sedentary life, and food.  I took some very eye-opening courses in the Public Health Department when I was at U of M, where the discussion focused on helping individuals to address their ambivalence over change.  We learned about identifying the personal barriers to change, and what small steps could lead to minimizing those barriers.  The bottom line is that change can really, really suck.

While direct-to-consumer genetic testing companies advertise the benefits of knowing if one carries an increased genetic susceptibility to multifactorial diseases, we as individuals may not understand that our greatest control in our health lies in our behaviors.  That is what concerns me.  So what if you carry a polymorphism present in 5% of the population that is thought to influence one's risk for hypertension.  Is that going to get you to drop those 30 pounds and adopt a healthier lifestyle?  You tell me.    

 

Website of the Week- it's a nerdy one!

I am on call at work, so my selection of a Website of the Week is a site I've just been scouring while sitting on the couch because I didn't feel like staying longer at work.

Yes, my fellow genetics friends, the website of this week is GeneTests.

Go to the site.  Click GeneReviews at the top.  And search away.  Cystic Fibrosis?  Neurofibromatosis?  Organic acidemias?  It's all there.  Click on "Reviews" for a full synopsis and "Testing" to figure out where you'll send a sample for molecular analysis.  Oh, but first you may wish to talk to your doctor :-)   

HAVE FUN!!!

Standardized Patient Revisited

We have a couple of students rotating in our department at work at the moment.  Today they had to perform two genetic counseling sessions with a standardized patient in their genetic counseling program.  Which, for those of you away from the realm of patient care training, means that you must perform a genetic counseling session with an actor pretending to be a patient while being videotaped- knowing full well the whole time that several bigwigs are watching you, and will be able to watch you again, for all of eternity.  Or until the tape breaks.  Or you burn it.

It brought me back to when we had to do our standardized patient assignment our second year of grad school.  Our program director welcomed us back to the start of our second year, filling us in on our rotation schedules, our classes, our thesis deadlines- nothing too big.  It was our second year- we knew the ropes.  Then there was a pause.  An unnatural clearing of the throat.  "Oh, um....one more thing...in three weeks time, we're going to have you try something we've never done before...a full counseling session...with an actor...with three of your program directors/supervisors in the room...with a video camera."  All six of us spent the next 21 days with a constant stomach ache.  Perhaps this malaise started when, in the process of explaining the assignment to us in more detail, our director referred to herself and our other supervisors as "judges."  When this was pointed out to her, she chuckled and said, "Oh, did I say JUDGES?  Hahahahohohoha- Oh, I didn't mean THAT."

I am so not into the "freak the shit out of your students" game that so many in my field seem to enjoy.  Yeah, yeah we need to develop the skills to work under pressure.  All in good time my friends, all in good time!  They frazzled us further by making us wait until 24 hours before the standardized patient exercise was clocked to begin before emailing us the details of the case.  Our students today had to do one family history of breast cancer case, and one prenatal case involving an abnormal quad screen.  Yeah, something routine like that would have been nice.  For us, we were given the whopper topic of congenital myotonic dystrophy.  "Yeah...so, this is a serious condition...and your baby may die...and you probably carry a trinucleotide repeat...that probably expanded when you passed it down to your child...and you're not affected like the baby but next time you climb a ladder or shake someone's hand you may not be able to let go.  So...I wonder how you're feeling right now?"  I was the last to go out of our group, and I don't think I've ever been so nervous in my whole life.  I am not kidding folks.  I jumped up and down in our little student room in order to get out my jitters beforehand.  I pretended the red light of the camera was not boring a laser beam into my brain.  Each time one of my "judges" shuffled her paper a jolt of adrenaline shot down my spine.  And when when I inquired about her coping and my actress replied by saying that she had no support system, I wanted to slap her...for making it that much harder for me to know what the H-E-L-L to say in response to THAT.

Hearing our students talk about everything they have to do in their program makes me feel so badly for them.  Oh, the memories.  I was there.  And, thank God Almighty, I will never be there again. 

Two Years Later

We had a great afternoon today at the Metropolitan Club at Sears Tower (I will not refer to it as Willis Tower, no sir), where we watched the Thunderbirds practice in prep for the Chicago Air and Water Show this weekend.  Feeling the desk vibrate in a windowless office while the Thunderbirds roar overhead is enough to make anyone batty, so today I did something very unusual and left work at lunchtime to catch the practice.   

Sitting there absorbing the seemingly peaceful and quiet skyline (that is, after the Thunderbirds finished their run!), I remembered where I was this same week two years ago.  Let me tell you, it was far from sipping wine in the Met Grille on the 67th floor.  It was this week in 2007 that I took the Genetic Counseling board exam (the actual anniversary is August 15th and 16th, thanks to my savant skills at remembering dates), for which I had been studying since January.  On top of that, my husband and I trained the whole summer to complete the Chicago Distance Classic half marathon the Sunday before the board exam, raising money for the Leukemia & Lymphoma Society in honor of my sister, who had been undergoing cancer treatments during this time.  It was a summer of hyper-discipline and diligence, with hours of training and icing sore muscles and studying late into the night.  It was also the summer that my husband and I got engaged, and the time when, cruelly, we were under the happy impression that my sister's treatments had come to an end.

But today, two years later, I was sipping wine and staring into the city with my husband, with my sister healthy in Kalamazoo, my running shoes dusty in the closet, and the feeling of content.

 

Genetic counseling nightmare!

My job as a genetic counselor can be pretty hectic at times.  Thankfully the work load and stress ebbs and flows, and overall I remain content to be in the career I am.  Well, Thursday night I came home and could not shake the day's work weight.  To alleviate this, my husband and I went to our ole' standby, Pequods, for some pizza and beer.  In our opinion, Pequods pizza is the remedy for all problems in life.  Major world conflicts would be solved if only Pequods was served during negotiations.  I feel strongly about this.  We even went to Pequods the night we got engaged. 

I mean, just look at this pizza.  Don't even get me started on the carmelized crust.  Yum.

So, I was happy again, and went to bed knowing that the weekend was not too far off.  Well, standing in the shower Friday morning, it hit me out of nowhere that I had had a truly horrific, disturbing work dream overnight.  Has that ever happened to you?  You wake up exhausted without knowing why, and then, WHAM! you remember why you tossed and turned all night.  Now this was the kind of dream that has its own chapter in a Dream book.  It was the kind of dream that a shrink hears about and thinks, "yikes!"

In this dream, I am at my parents' house in Michigan for a weekend.  It is Saturday morning and I am still in my pajamas.  Well, out of left field, my dad tells me that a former employer called saying they needed me to counsel patients for them today and oh, by the way, the patients will be arriving here any minute.  A file folder of records slides across the kitchen table towards my orange juice.  I feel a ball of panic rise in my gut as I flip through the records and can make NO sense of them.  Are these patients coming for prenatal genetic counseling?  Peds?  Is it just genetic counseling, or do I also need to coordinate testing?  For what conditions?  What kind of doctor's office sends records like this?  Then I ask, "Did they say how the heck I'm supposed to get paid?"  And my dad admits he didn't ask. 

Well, I freak out.  And as I'm freaking out, NO ONE in the house understands my distress, including my husband!  They all think I am being unreasonable. What's the big deal?  You'll be done by noon.  We can still enjoy the day!

In the middle of all of this, our phone rings and it is a family friend who starts crying to me about a family crisis.  As I am on the phone with this person, our doorbell rings, and it's my first patient.  "Listen, listen, I am so sorry, but I have to go," I try explaining to the sobbing friend.  I hang up and bolt upstairs to get dressed as my sister escorts this couple into our study.

Thankfully at this point the dream ended, saving me the inevitable task of having to tell these patients that their HMO Illinois insurance could not be used in Michigan and that I was unqualified to perform amniocentesis procedures, which, I am sure, would have made them really, really mad.  

If that dream was not a sign that I needed a weekend, I don't know what is!  Maybe another Pequods pizza is in order?

Mrs. Literal

Over time, I have become incredibly literal, so much so that I almost consider it a handicap now. 

I don't think I was always this way.  The past 5 years of genetic counseling training and work has made me into some type of detail-oriented monster that has no business considering alternative solutions to what is already staring me in the face.  As my husband frequently says, "it is what it is."  I've just taken it to a whole new level.

Don't even bother giving me a crossword puzzle to do.  I'll just end up staring at it forever, putting it down occasionally to clear my head, then picking it back up a few hours later to see if some magical power has allowed my mind to become more flexible in the interim.  It never works, and after I've cheated by looking up the answer, I can't believe I couldn't think of the solution.  Once my mind gets locked onto a possibility, it doesn't budge.

We're (happily!) going to the Billy Joel/Elton John concert tomorrow evening at Wrigley Field.  Upon telling this to my friend, she exclaimed, "Oh my gosh that's awesome! I'm so jealous!  Where are your tickets?"

"They're in our safe," was my reply. 

I must have inherited this from my grandmother.  There's a famous family story about a presidential election night back in the 1940's.  My grandmother's very politically minded father-in-law yelled out from the kitchen, "How did Oklahoma go?" My grandmother took a deep breath and sang, "Oaaaklahoma where the wind comes sweepin' down the plain..."