Bring on the Turkey

Holy moly it has been a while! My apologies for being so absent, I wish I had a better excuse rather than “UGH I LOVE MY LIFE, DO ALL THE FUN THINGS” but I really don’t!

School has been plodding along well, although now I’m deep into second year I can say it is very different from first year. Read: less classes = more rotation/work = okay let’s do this, I’m ready to conquer the world of genetic counseling! At the moment, we are in classes Monday and Friday and Tuesday through Thursday are rotation/work/off days. I’m busy all throughout the week with work and rotation so it really feels to me that I’m working more than a student right now. I’m feeling ready to graduate and be a real adult. With a salary. Pls. Debt to pay off.

We just finished up our first rotation this week. I was at the Beth Israel CF Center and also at Bellevue Hospital this round for peds and was doing a day at a week at each location. [For those of you following the Ebola outbreak – yep Bellevue was where Dr. Spencer was.. imagine how weird it was turning up to the hospital to six news crews all standing around the door.] Peds was great, I really enjoyed my time there and had an interesting dichotomy of autonomy where I was very independent at one site and only took family/medical histories at the other. I had a particularly touching moment one day at Bellevue where we were seeing a patient who had a clinical diagnosis of Angelman syndrome for results of genetic testing. We were having a discussion with the mother, who admitted she was feeling a lot of guilt for the diagnosis as we knew the causative mutation had come from her. We spoke for a while about how we have no control over the genes we pass down to our children. As we finished, her son reached over and gave her a big hug. There was not a dry eye in the room and I swear that situation spoke to just how much communication even someone who is non-verbal with intellectual disability is capable of.

Thesis/capstone projects are shaping up quite nicely. My group, as I may have mentioned, is doing a pilot study on an LGBT cultural competency curriculum for genetic counselors-in-training. We heard this week that we received the NSGC Student Research Award for this year, which we are really excited about! This will allow us to bring a subject matter expert in to help teach some of the curriculum. We have a Capstone Day coming up on November 24th where all the groups will be coming together to talk about their progress so I’m excited to present ours and hear about other groups! We had originally hoped to have our curriculum presented by the end of this semester but had to push it back because these things take time to do well. We’re aiming for end of January now.

Other highlights from the past couple of months include a class field trip to the New York Genome Center. The NYGC moved into its new digs in SoHo September 2013, after being located on the Rockefeller University campus for a number of years. It is a consortium of a lot of the medical centers/med schools, as well as some other scientific organizations, with the goal of putting genomic science right into the heart of medical care for useful clinical solutions to disease. We heard from some of the people who are working there right now and they are in the process of setting up a CLIA-certified lab (which means they can start doing clinical testing) which is very exciting! Since they opened they have only been doing sequencing on a research basis so this would be a big step! The whole organization sounds great and if you’d like to learn more I would recommend this talk from the president – Dr. Robert Darnell – about the future of genomic medicine that he gave to IBM, who NYGC is teaming up with: 

Outside of school life is great as well! I have way too many social events for my calendar at the moment and I’m going to the Alt-J concert tonight so it is possible to have a life outside of school even when you’re busy doing a thesis! But you don’t want to hear about my fun and adventures so I will say goodbye for now! Someone had requested that we do a post about what has changed in the program since Anne Greb, the new director, came on board so that will be coming down the pipeline soon but for now I will wish you all a wonderful (American) Thanksgiving with friends and family wherever you may be!

– Amber



Hey from NOLA! The past four days have been a whirl as the second years have been in New Orleans for the 2014 National Society of Genetic Counselors conference. As I sit writing this in the convention center, fellow genetic counselors are walking, pulling suitcases along behind them as the events wind down and people start to head back to their respective towns and cities.

It’s customary for all the second years of all the programs across the US to attend their first conference in their last year of grad school. It’s a good way to start to get a better idea of the current research and advances in the field, to find yourself in a sea of genetic counselors (it’s weird!) and to start networking. I’ve compiled a short list of things I’ve learned over the last four days, hope you enjoy them!

1. Yep, the women outnumber the men: no big surprise here, I knew that before I even came. There were over 2000 attendees this year & the men were far & few between. Being a young, straight female though, I feel I’m alright with this state of affairs as all the genetic testing labs all send their young, attractive male reps. Things could be worse.

2. Twitter really is as powerful as they say: this has been a big year for Twitter at the conference. NSGC started advertising their hashtag, #NSGC2014, and encouraged all the attendees to participate in live tweeting to boost the twitosphere. I had Twitter previously, hadn’t really used it that much, but jumped on the bandwagon here. It was a great networking tool, I had many other GCs who were also tweeting follow me, I followed them and it’s just a way to put your name out there. I also had my LinkedIn link on my Twitter, which I think may have increased traffic on my LinkedIn. Social media is powerful and learning to work it to get your name out there is beneficial. NSGC retweeted two of my tweets while I was here as well so I’m feeling like a rock star! (plug: follow me @amber_clare_)

3. You can’t do everything despite the fact you will want to: there are multiple sessions that go on at a time at the conference and being the super keen student I am, I was in nerd heaven & was like, go to ALL the sessions. One day into it about 2pm was when I gave up that fight. You have to give yourself breaks at such high energy events, pick and choose what interests you most. If you end up a practicing GC, chances are you will be back and while there won’t be the same talks, there are still chances to learn new things!

4. Only pack your suitcase half full when you come: all the labs want your business so they decide to entice you with swag. Water bottles, USB keys, pens, stress balls (& sperm & eggs & zebras & Gregor Mendels & g-nomes), pregnancy wheels, so many free things!

5. Labs throw parties, take advantage: free food, free drinks, but be careful because you’re in a professional setting (I had my very first & very last hurricane [read: drinks with FOUR ounces of alcohol] at the Ambry Genetics party) so first time round, you may want to be prudent about not having too much.

6. If you go to Sarah Lawrence, everyone will be amazed at how many of you there are: most programs are around max 8 people. We’re 28. ‘Nuff said.

Overall, it’s been a great time & we’ve had some extra time to check out the city of New Orleans as well. I feel very lucky to be part of such a great community that has so many good discussions about so many issues & am very excited to come back in the future. That being said, we had one week of school before coming here so I’m excited to get back home to New York and settle into a fall routine. Sweaters, leaves in Central Park and knitting projects are headed my way… if I have time outside of school!


Going on Your Own: Summer rotation in a strange new place

So this is another post about the summer between years 1 and 2, as even though school is back in session, the heat wave in New York last week keeps bringing back memories.

For summer clinical rotations, some of my classmates chose to stay in the NYC area, some chose to go back home, and some (including myself) went somewhere completely new.

It was a bit frightening, the prospect of being at a clinic for two months, where I had never even spoken on the phone with anyone from there, let alone met them in person. There was no formal interview process and all our communication was via email. On top of that, I barely knew the city (last visited over a decade ago, and much has changed since then), AND I was going to be living with one of the genetic counselors. So things could go exceptionally well, or terrifically catastrophic, and all the endless possibilities played through my mind as my start date loomed.

So it was with a bit of a leap of faith that I packed my bags and drove out to Victoria, a small city of 80,000 on Canada’s West coast. Thankfully, things went great. I had the time of my life there, and I took away some great experiences, as well as experienced a lot of personal growth.

1. I learned how to be a fully, and completely independent person. I knew absolutely no one, and was largely on my own figuring things out and finding my way around, though don’t get my wrong, my lovely host did help me out a bit. I feel I gained some maturity and confidence in the process of becoming my independent self, two skills that will be helpful many times over, both in the clinic and out.

2. I also got a lot of practice in self-coping and self-evaluation. Though my family and classmates were only a phone call away, it’s not necessarily the same as having those close to you face-to-face when things go downhill. I took the time with myself to process how I was feeling, and what I could then do about it problems. Could I cope on my own, or do I need to look for support from someone? Though support from friends and colleagues is important in this line of work, there are many genetic counselors that work independently rather than part of a larger clinic. They may be the only genetic counselor in a department, or even entire hospital (or county!). I now believe that this prospect is something that I would be capable of.

3. I got thrown in head first into the art of making friends. Getting to know staff at the clinic, but also meeting new people around town, and finding things to do for fun. The people who live on Vancouver Island (where Victoria is situated), are quite the friendly bunch, so I had plenty of opportunity for casual conversation at coffee shops, the grocery store, or while strolling along the beach. Connecting with complete strangers is what genetic counselors do, with every patient that they meet. “Building rapport” as it’s called in the classroom, is an essential skill in this career, and something that takes time to develop effectively.

4. I learned that though there is never enough time in the world to do everything on the to-do list, but it’s important to prioritize doing things for yourself. You’ll be healthier and happier for it. The summer between first and second year, is not much of a summer, as the workload is huge. I was working 9 hours a day (+2 hours commuting), 5 days a week. In addition, I was researching and writing assignments for my Capstone project (similar to a Master’s thesis, if you’re unfamiliar with them) that is completed in the second year of the program. This all took up a big chunk of my time and energy. I still set aside the time to do something I knew would make me happy this summer though: I learned how to scuba dive. I had thought about becoming certified for a little while, and living a 5 minute walk from a training center and highly regarded dive site was the perfect opportunity. I made many great memories in Victoria, by reminding myself that I am more than just a student, and I need to do things myself, even when life gets hectic.

So, I hope you consider the value that going somewhere new for your summer rotation can have, for both your professional and personal growth. It’s exciting, and there is so much opportunity out there.


Let the Games Begin…

Well, the final days of summer have slipped by and with the long weekend came the start of Orientation 2014! Classes start Friday for the second years and Monday for the first years. But first, let me catch you up on my last week.

I can’t remember if I have mentioned this previously or not, but this year I will be working for the International Fanconi Anemia Registry (IFAR) at Rockefeller University in Manhattan. I spent the last week training for the job and I have to say, I’m really looking forward to it and have already learned an immense amount of information.

IFAR was started at Rockefeller in the ’80s to house information on Fanconi Anemia (FA), which is a rare genetic condition that affects about 1 in 350,000 people. The IFAR was started with the goal of amassing all of this patient information to better understand causes, progression and outcomes of patient with FA. Currently there are patients from all over the world that are part of the IFAR and many publications have been made using the data that has been gathered over the years. Science is so cool!

So what am I going to be doing for them? Well, I’m going to be inputting patient data into the online database application, updating patient files and cleaning up the database where needed. Sort of a Registry Data Manager, if you will :P. I found out about this job through one of SLC’s professors, Erica, who was a genetic counselor with the study for a long time. The reason I’m so excited for this job is because it puts me right in the midst of the research side of genetic counseling and gets me some exposure to an area that is talked about in our classes, but that we’re not really immersed in. Allows me to try out something a little different and get a feel for it.

Last week, like I mentioned, was training for the job and first off, can we just talk about how much I love being in Manhattan on a daily basis? I totally feel like 1. an adult and 2. a real New York girl. I went to a Meetup happy hour on Tuesday evening (yay for meeting new people!), hit up a couple rooftop bars on Thursday evening – working full time in New York is the life my friends. Also, Rockefeller is beautiful and a real oasis from the bustle of the city for your day. Think this in the middle of Manhattan because, well, that’s a picture of Rockefeller. The lab is great, I’ve learned so much already, I’m super excited to be a part of this and to be getting this experience. I don’t know if you ever have those moments in life where you sit for a couple minutes and just reflect on how lucky you are but I’ve been getting those warm and fuzzies a lot over the past week, it’s just been great.

My classmates are slowly starting to trickle back into the city (more like flood now because we start on Wednesday) so it’s been nice seeing them again and it’s been nice meeting all the first years at Orientation over the past couple of days (I’ve been doing some volunteering there). All in all, school is starting up and I’m very excited for all the things coming this year, I think this is going to be my year haha. Kara’s on her way back to NYC today so hopefully she’ll get a chance to give you a bit of an update on her summer and what things are looking like for her for this year!


Friday Night Date

Tonight, I have a hot date.

My date is smooth, warm, knows exactly how to entice me. I know exactly how to turn my date on, know all the right buttons to push to get my date all fired up.

AND I WISH I WERE TALKING ABOUT A BOY. But I’m talking about my laptop. Yes friends, tonight, I have a hot date with my laptop. On a Friday. For what seems like the umpteenth time this summer. Alas, the life of a graduate student. So what I do? Procrastinate by writing this blog post!

The beginning of August I was lost in work. I had a big final project to do for my summer rotation. I was assigned the task (read: challenge) of creating a protocol for the clinic for dealing with thalassemia and hemoglobinopathy screening and testing in pregnancy. It got so bad I was dreaming of hemoglobin electrophoresis. I mean, I guess it makes a change from dreaming about pregnant women and ultrasounds, but still. Four days after the first draft of that assignment was due, my capstone prospectus was due.

As you may or may not know, all second-year JHMPHG students are required to complete a capstone project as a graduation requirement. This process is started in the second semester of first year and continues through the summer, into March of the next year (conveniently right before Spring Break so you can spend it celebrating). This capstone project can be a project of your choosing and you are encouraged to choose something of interest to you (as let’s be honest, you’re going to get sick of your topic so may as well pick something you won’t vehemently dislike by March). Last year, a new initiative allowing group capstone projects was started and we are the first year to roll with this idea. As such, I am doing a capstone project with two of my classmates. Our area of study is surrounding LGB (lesbian, gay, bisexual) and maybe T (transgender) cultural competency curriculum in genetic counseling training programs. We’re going to create a curriculum, test drive it on our classmates (they don’t really know that yet.. tee hee) and see if it makes a difference in attitudes, knowledge and skills. Our hope is that it catches on to other training programs! Anywho, your prospectus is essentially you pitching your capstone idea and includes the ever-dreaded literature review.

So, after the first week of August was over, my assignment and prospectus were in, I thought it was done. Thought I could wipe my hands clean, sit back and allow my ManServant to feed me grapes and fan away my sweat in the scorching summer sunshine. Then I realized I had the second part of a Clinical Supervision Assignment. Then things got rolling with the IMPACT Program, which I am coordinating with one of my classmates this year. Then I realized the draft for our ethics approval for our capstone is due on August 29th, only a couple of days after the final draft of our prospectus.

Yeah… right.

But doing away with Negative Nancy, there is only eight and a half more months to go! I’m also very lucky to be doing something I’m so passionate about, I’m just going through student fatigue! I found myself a lot busier than I anticipated this summer and feel I’m getting to a point in my life where I want to diversify my knowledge into other areas but I live, eat, drink and breathe genetic counseling.

I’m back in New York as of this week and missed the city a lot so it’s good to be back. I’m starting training for a new part-time job that I will post about next week (as it’s genetic counseling related) and I’m very excited for that and looking forward to a great year and becoming a real genetic counselor! Anne keeps saying she’s excited to have us back so I think she’s a little lonely and I know everyone is looking forward to meeting the incoming class.

Okay, back to work!


Bad News Bears

Well, Week 5 of my rotation brought something I hadn’t been excited for: the first bad result.

As a genetic counseling student, I recognize that part of my job as a genetic counselor will be calling out results, both good and bad, to my patients after testing. As a logically-minded person, I also recognize that not every result can be good. That 25% of the time that two carriers of a recessive condition will have an affected child or pregnancy happens. It’s not a figurative number. As an empathic person though, I’ve been hoping for that good result for the patients I’ve been seeing this summer every time. I’ve been so happy when I’ve had the chance to call, make someone’s day, and tell them their baby doesn’t have Down syndrome or what-have-you – to tell them that they don’t need to worry about that one particular condition anymore. Imagine my dismay then when I found a copy of results for a patient of mine sitting in our inbox one morning last week with the words “two mutations detected.” Major sadface.

I had to call out the results as this was my patient and, to be honest, I wanted to have that first experience as a student when I had supportive supervisors there to help me along. Understandably, the family was upset and you can’t help but feel for people in these situations. I remember hanging up the phone and it was like all the strength I had in my body had escaped with my words; I felt utterly drained. I felt that way for the rest of the day. The weight of my patient’s sadness had sat on my shoulders and I could not seem to shake it.

Genetic counseling can be a profession with a significant rate of burnout so it’s important to develop ways to counteract the emotional drain that can come with situations like these. For me, that meant a night at home by myself painting my nails, curling up with a book and spilling some ink in my journal. The sooner you develop these skills, the better you will be at bouncing back from these situations (and the healthier you’ll be able to deal with other stressors in your life 🙂 ). As for my patient: unfortunately the difficult part is not over for them yet. They’re facing a bit of a road ahead as we try to get approval for a late-term (after 22 weeks and 6 days of pregnancy) termination here in Alberta for them, which means we’re going to be talking to them a lot over the next week or so. Which means lots more self-care for Amber!

That day was bad news bears, literally, and I think it’s important to highlight that genetic counseling can be really freaking hard because sometimes you end up crushing people’s hopes. That being said, I try to focus on all the happy voices I’ve heard over the phone so far this summer when I’ve given out good results and I know that my patient will get as much support as we can give her for this tough time. Our professor Laura Hercher once said that she’s never met a nicer bunch of people than genetic counselors and so overall I’m glad to be a part of a profession putting a little more love and support into the world.

Man, I feel like a genetic counselor


First week of rotation, check! That ^ is the hospital that I’m rotating at this summer. It’s the Lois Hole Hospital for Women in Edmonton, Alberta, Canada. I’m doing an 8 week rotation with the prenatal genetic counselors there and man, it’s been a great first week!

The counselors at the Perinatal Clinic see women in their pregnancy who are high-risk for one reason or another. That reason may include a family history of a genetic condition, a positive result on a first trimester screen or a maternal serum screen or an abnormality found on an ultrasound. They work within the women’s clinic where there’s a dizzying flurry of big-bellied ladies coming in for ultrasounds, evaluations and check-ins. I thrive on busy environments so this is just the place for me! My supervisors are great and I’ve already done a few cases almost solo. I’ve spent my week in sessions, calling patients, writing letters back to doctors and becoming acquainted to the clinic in general.

Highlights of the week:

  • discovering the Society of Obstetricians and Gynecologists of Canada (SOGC) has guidelines for adjusting risks based on soft markers found on ultrasounds. This has been like finding a billion dollars in my pocket. No joke. I feel like I’m a genetic counseling millionaire. Bring ALL the soft markers to me, I got your backs.
  • being able to go through a session without feeling like I’m vomiting out words. I did a session yesterday where I just walked out and after, all I could hear in my head was yeeeaaahhh baby because I felt it had gone decently and I actually sounded like I knew what I was talking about. It’s like I’m a genetic counseling student or something!
  • one case touched my heart this week with a couple who were just so supportive of each other in their time of turmoil and trial and I just wanted to hug them. It always makes me feel great to see so much love between two people. Yay love!

Not-so-great parts of the week:

  • flip side of the last point, we had a couple that seemed to not be in a good place in their relationship. That made for a bit of an awkward session that was challenging when it came to decision-making. We always like to try to encourage the couple to make a decision that’s best for them together but it makes it a little difficult when Elliot the Elephant is chilling in the corner of the room.
  • stumbling over your words is a common problem in Amber-land when I’m in hyperactive student mode. Then I just feel like a babbling idiot. I know what I’m talking about okay!
  • listening to my supervisors calling out positive results. I booked terminations or abortions for two patients today because of anomalies they had in their pregnancies. Knowing these women and these couples are going to have this experience makes my heart hurt but I am reassured to know that they will get so much support over at the clinic and at the Lois Hole.

All in all, it was a great first week and I’m thankful to have daily obligations again! I was so unstimulated during my four weeks off I actually went out to my public library, took out a high school physics textbook and taught myself some physics. Life was bleak friends. I was also doing some work for the Canadian Angelman Syndrome Society to develop their information pages about Angelman Syndrome so those should hopefully be going live before the end of the summer! I’ve also heard about the Positive Exposure FRAME video I was helping with filming in March – it’s almost finished the production phase! Watch for it here when it’s done, I’m super excited about it, it’s really sexy.

That’s all for now friends!