1. You will never go anywhere… ever again… without thinking multiple people have some sort of genetic condition. It is sad but so true. That tall skinny man in front of you in the grocery store undoubtably has Marfan syndrome while the baby you pass in the parking lot clearly is macrocephalic. (or having a head size two standard deviations above the mean, or average, for his size)
Even gas stations are not safe. I drove by this one the other day! Does this make anyone else think Long QT syndrome?
2. You get overly excited whenever you discover a new genetics-related website or app. And no, your significant other/parents do not want to hear how excited you are about your new pregnancy wheel app. Here are a few of my favorite new discoveries!
– CyDas – A tool for drawing karyograms/ideograms. If there is a patient with multiple duplications, deletions, or translocations and you always wished you knew what it looked like/how big the genetic changes were… then this is the site for you! I am a big proponent of visual aids so this was an amazing site for me to utilize. Great for making visual aids for patients! (Note: With some finesse, you can move the X chromosome down next to the Y) Below is their example.
– Next Gx Dx – We like to call this the Kayak of genetic testing. It is a user-friendly resource to determine labs offering specific genetic tests along with their costs, specifications, and shipping details. However, we had found a few errors regarding test cost in the past. When in doubt, just be grateful GeneTests is back! This is always a good place to start if you are unsure where to find genetic testing availability and information.
– The Pregnancy Wheel App by Duprey Net – A must for anyone in the prenatal world. Much to my dismay it is not free. While it only cost a whopping $0.99, I still just hate purchasing apps. This one was worth every cent since it did not lose the “pregnancy wheel” feel.
– CFTR2 — If you are curious about any kind of Cystic Fibrosis mutation or you have a patient with a mutation that is unusual – This is the place for you to go! There are over 1,800 different mutations in the CFTR gene known thus far. Therefore, this is a site to bookmark for future use! There is also another, similar website out of Canada called the Cystic Fibrosis Mutation Database that has excellent visuals of the CFTR gene and mutation information. The mutation data from this website has now been combined with the CFTR2 site. Therefore, if you are looking for a more, “one-stop shopping” experience, CFTR2 is for you!
– The DNA Exchange — If you are enjoying this blog and want to read more postings from other genetic counselors or genetics professionals, take a look at this blog! Especially if you are curious and wish to know more about hot topics in the genetic counseling field.
3. You will likely have to explain what your career is over and over again to everyone you come into contact with. I absolutely love my profession so I don’t mind this too much. I walk around spreading the word about genetic counseling just about everyday. You will also come up with a few, easy to explain examples to tell people about when they ask “exactly what will you do??” However, the Angelina Jolie Effect definitely created more awareness for our field. ((Even though we all will not be working with women at risk for cancer… Angelina Jolie surely had an impact in the genetics field)). I will admit though, some days having one simple word like “nurse” to describe my career would be easier!
There are also so many misconceptions still out there. No, we are NOT making “designer babies” or telling people how to create a perfect human race. Unfortunately, people who think these things clearly have little understanding of what GCs do and how we work to support patients to make educated, autonomous decisions. Often what people may say sounds a bit more like a mix between a history book from several decades ago and a sci-fi novel than what I will be doing at my 9-5 job. This is just one of those things you will face as you enter the field of genetics from any angle.
This is a new, rapidly changing field that is truly on the cutting edge so it is understandable that not everyone knows what it is that GCs do. More and more, people are starting to know what genetic counselors are, which is both hopeful and exciting. This is ((one of the many reasons)) why the future is looking so bright for GCs! And to many of our readers… you too could be/will be apart of this exciting field!