This is the beginning of my Spring travel adventures. This week I visited Vancouver, next week we go to New Orleans, the week after that we speak in Little Rock and two weeks after that I speak in Austin , Texas. We are so blessed to continue to be invited to speak to CF education conferences. I pray my health will withhold this rigor. What a great way to welcome spring!
For the last four days, I have been in Vancouver , British Columbia for a genetics conference related to my genetic counseling job. For most of each day since Thursday, I have sat in the Vancouver convention center for the 25th annual American College of Medical Genetics educational conference. The conference was attended by genetic counselors, medical geneticists, lab scientists, genetic testing companies, researchers, students and genetics policy professionals. I am required to attend a genetics conference once a year to keep up with my board accreditations. Though sometimes painful, I have to admit I enjoy this opportunity to travel, get to know my co-workers ( only three of us from Stanford attended) and saturate my rapidly aging brain with academic science that I tend not to deal with in the day-to-day busyness of my work.
As you may recall the 2010 Winter Olympics were in Vancouver, so the downtown was well suited for tourists with a new train system, beautiful new accommodations and buildings, and wonderful restaurants. Vancouver was clean, not-so-crowded and filled with young people of all ethnicities, though primarily Asian. The main downtown overlooks Bullard Inset, a water way, that connects to North Vancouver through bridges. In the north were snow capped mountains and pine forests. To the South were rivers, harbors and occasional reminders that the lumber industry is big here. Most days were rainy which was fine since I was stuck indoors from 8 AM to 5:45 PM sitting on my ass listening to lectures that ranged from 2 hours long to six in a row, 15 minutes each. Oy vey. At some points my brain felt like it was going to explode.
I have to admit that when I attend these meetings I feel very small. I am among over 2000 genetics professionals who are absolutely dedicated to the field of genetics through research, patient care, counseling, technological innovation, molecular discoveries, teaching, and research. “Wow” I think in disbelief when I see people who are so FOCUSED, so passionate and so dedicated and so darn KNOWLEDGABLE (unlike me). There have been so many genetic advancements in the last 15 years since I attended school, that I cannot keep up. Add to that my chronic scattered brain and prograf memory loss and I feel screwed.
Though many breakthroughs from the Human Genome Project have created new testing opportunities, many are still not clinically available to most pregnant ladies we see so I don’t deal with this in my day-to-day work. In the last few years, the ability to sequence a person’s entire genome has become faster, cheaper and easier and biotech companies are trying to capitalize on this. There were lectures about genetic testing that could potentially screen for hundreds of diseases on an embryo (preimplantation genetic diagnosis), a fetus (prenatal diagnosis),or on a child or adult. People with previously undiagnosed mental retardation are now being told what they have because newer technologies have been able to find minute mutations in their genes, when years ago it was not possible. There are also emerging technologies in which a person’s genetic test can show if a certain drug will be beneficial or not, in an area called pharmacogenetics. This would be helpful to cut back on healthcare costs to eliminate less effective prescriptions. Genomic sequencing is also used in cancer to help characterize the genetic abnormalities in tumors, so that the appropriate treatment can be obtained. Complex new technologies like comparative genomic hybridization, short nucleotide polymorphism microarrays, and exome sequencing are happening now . I don’t know much about these things and all this science just made me feel stupid and compelled to enroll in some classes.
In addition, a new idea talked about was the soon-to-come ability to detect fetal DNA in a pregnant mother’s bloodstream so that she could have prenatal diagnosis without the need for a risky invasive procedure like amniocentesis. But what about the error rate in the test? How do you ensure it is accurate?
All I know is that the current amount of testing offered routinely to pregnant ladies is already overwhelming, and the push for more and more genetic investigation to reach that goal of a perfect baby or perfect health or the longest life brings all kinds of ethical, social and psychological consequences. I admire the masterminds who invented this stuff, but really , if you had a full gene sequencing test for $1000, and it showed you had a predisposition for a disease that you couldn’t do anything about ,like Alzheimer’s disease, how would that impact your outlook on life, family planning and even access to medical care or insurance? How many people would really want your full genome analyzed? Would you want to know if you or your child was predisposed to obesity or breast cancer? Whatever happened to just not knowing, and trusting, living, hoping for the best and the conventional belief in resilience and faith? This is truly becoming a brave new world.
Not to mention that in sequencing the entire human genome there is a lot of areas of DNA that either don’t code for anything important, or areas that code for things we don’t’ know yet or understand yet. How do we make sense of these “normal variants” and what would a pregnant parent do if they were told their baby had a genetic difference that we can’t explain? Life has become so damn complicated. I even heard of a company that is trying to make sense of a particular “normal variant” that has shown up frequently. A study showed that it was seen more often in athletic people. So, in typical American fashion, a biotech company capitalized on this and started to offer a genetic test for this variant to children so parent s could know whether or not they would excel in sport competitions. To me and others, this is bullshit because there’s no proof that the variant leads to athleticism; it only happens to be found more frequently in a few athletes. There are so many genetic tests out there, so much information, so many potential genetic testing scams on the internet, so the average person interested in genetic testing has to be careful. Not to mention that most regular doctors have limited knowledge of genetics and the implications of these tests. We heard many stories of the wrong test being ordered orthe primary care provider not having time to interpret the test results and a baby being born with a genetic condition. Let me just stress here : There is no such thing as a genetic test that is 100% accurate!
There was also an Expo where dozens of genetics companies presented their tests and new technology. Next to the Expo was a “poster” area where researchers presented interesting genetic “experiences.” One of the most interesting posters was on a baby girl who had a something called “fetus in fetu”. This is a rare birth defect in which a baby is born with a dead parasitic twin inside of them. In this particular baby’s situation, she was diagnosed after birth with what looked like a brain tumor. After further MRI, it turned out the baby had a pair of twin fetuses IN HER BRAIN! This happens very , very early in the embryonic stage in which cells migrating to form the brain went awry and became “pluripotent” which means they are like stem cells and can form anything and everything. So for some amazing reason, a twin pregnancy formed in the baby’s brain and grew for a while before dying. The twins’ bodies sat in the child’s brain impeding the growth of the normal brain. Upon brain surgery, they removed the fetal parts from the child’s brain; not surprisingly she suffers severe mental retardation. OMG, WTF. It is a true miracle to have a healthy baby when all those developing cells do the right thing.
Another noteworthy part of the conference was that for the first time that I’ve attended a conference in years, there were absolutely no talks on CF and I actually found that refreshing. CF is so well known, so well studied and truthfully, the “been-there-done-that” disease of genetics that it was nice that attention was turned onto other rarer and more devastating genetic disorders like craniofaciocutaneous syndrome, familial dysautonomia, severe combined immune deficiency syndrome (SCID- the “boy in the bubble “ disease- BTW, California may add that to the newborn screening panel soon), just to name a few. Though there is no gene therapy and many questions remain, the genetics of CF have become a prototype for understanding and researching so many other diseases. I hope and pray that other devastating genetic diseases can receive the research dollars and therapeutic breakthroughs that we have been blessed to have with CF. Others may disagree but…
I also saw a powerful talk given by a fetal pathologist. This is a doctor who specializes in pathology- the study of body parts and tissues to help find a diagnosis. Well I need not go into detail about what a fetal pathologist does but wow… what a job! I’ll think of her next time I watch Nasty Jobs on TV. Being a fetal pathologist must take some intense emotional detachment to dissect medically aborted and miscarried fetuses and stillbirths to try find a genetic diagnosis. I don’t think any woman in the audience was at ease looking at some of those photos. Ugh… we are a strange group.
On to more pleasant topics, I recently watched a very moving documentary film called 65_RedRoses which featured the story of a Vancouver woman with CF named Eva Markvoort as she waited and received her double lung transplant. Her documentary has been very successful in Canada as is her personal blog. Unfortunately, Eva passed away only 2 years after her transplant, almost a year ago this week. Last weekend, her documentary, along with ours, was featured at a San Francisco transplantation awareness concert called Share The Beat. Because I had briefly met Eva’s parents at this event, I looked them up in Vancouver and we connected. I was able to spend a lovely evening with them in Eva’s home, a setting that was strangely familiar since I had seen it in her film. Eva was a strong, dynamic, energetic 25 year old with CF who made huge strides in spreading awareness about CF and organ donation in Western Canada. I was able to learn so much about her from her parents. I’m not sure what compelled me to get in touch with them , but I just felt the desire to meet. I was very aware that it could have been difficult for the parents to face someone who has lived 10 + years with a transplant, and was blessed enough to receive a second. Eva was waiting for a second transplant when she passed away of rejection a year ago. After learning that the donation consent rate is only 18% in British Columbia, I was shocked and saddened, and understood why Eva didn’t survive to receive another gift of life. Why is the organ donation rate so low in British Columbia? Well, our hypothesis is because of the enormous Asian population there. And you know about that by now and how I feel about that so I will spare you a rant.
It is always emotional to meet parents of a CF “sister” who is no longer living, but I felt a calling to connect and hope to keep in touch and share documentary film stories. May Eva be remembered always. Please see: www.65_redroses.com
Between lectures, I was able to do a bit of sightseeing with my co-workers, Anne and Meg. Anne and I walked to Vancouver’s Chinatown and had some damn good dim sum for lunch; on another occasion, we walked to Granville Island for dinner and a short boat ride. On the last day of the conference, when my brain was feeling very fried, I played hookie and rented a bike for two hours to enjoy a wonderful ride along the coast of Vancouver’s harbor into Stanley Park where famous totem poles stand to pay tribute to the Native people of the area. The last time I was in Stanley part was in 1984 at the age of 12, when we visited BC with my Japanese uncle and grandma. What a trip to be back 27 years later! It felt especially fitting since my Japanese grandmother, Obachan, died one year ago this week (March 17) and has been heavily on my mind. She was with me as I biked along that cold coast. The air was fresh and crisp with morning temperatures probably no more than 45.
Vancouver was a beautiful city, but as always I did not have the leisure time to see as much as I would have liked. More reason to put it on my travel goal list.
For those who care, I am happy to report that my gastrointestinal issues were cooperative and normal during this trip, which has been a rarity if you’ve read other blog posts. I attribute this to 2 new meds- Amitiza , which is a chloride channel drug for the gut and helps reduce constipation, and Actigall- a liver med that many people with CF are on to help bile salts and absorption of fat. I was so happy to be able to eat anything I wanted! Sorry, TMI.
Thank you for reading this long very blog and my many reflections again. May you all be blessed with good genes, sound minds and wisdom in making sense of the technology you encounter.
Love, ANA STENZEL
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