NOTE: If this is your first time reading this blog, this post is part of a series of posts where I share my experience with having my genes sequenced - from a social scientist perspective. If you would like to catch up - click here to return to the fist post.
Before we dive too deeply into this topic and anyone dives into this topic on their own, I think it is important to point out a valuable resource that every social scientist involved in this area should know about -- that is a genetic counselor.
A genetic counselor, of course, is someone you take your genes to see when they lose their mind because they keep being copied! (I apologize, I could not help including this bad genetic counselor joke.)
Seriously though, the topic of human genome sequencing is not something that anyone should just jump into alone. In fact, in a recent review of research on the topic of physician use of genetic services, the authors found that the "barriers related to insufficient knowledge and skills were the most frequently cited" for why primary care providers do not use genetic services more.
Did you catch that? Often even doctors don't understand genetics sufficiently. Except of course those who specialize in genetics.
But do not fear - there is a relatively new profession out there full of people who are specifically trained to help. The National Society of Genetic Counselors has a wealth of information about the field, but the following definition helped me understand what they do:
Genetic counselors have advanced training in medical genetics and counseling to interpret genetic test results, and to guide and support patients seeking more information about such things as:
How inherited diseases and conditions might affect them or their families.
How family and medical histories may impact the chance of disease occurrence or recurrence.
Which genetic tests may or may not be right for them, and what those tests may or may not tell.
How to make the most informed choices about healthcare conditions.
While their training is often for counseling patients, many who I have met end up spending much of their time advising doctors. (See the reference above about physician knowledge above.)
The practice of interpreting genetic information is young. Genetic counselors who I have spoken with report that it is still somewhat of an "art form". They navigate their way around very complex issues, and are continuously learning how to explain those issues to patients (or their doctors) who are often very sick.
So as I was navigating the decision to get sequenced, I found myself feeling two things:
First, I feel frustration and anger that this profession is not getting more attention. We need more genetic counselors (or similarly trained professionals) and similar professionals to help us understand what is being learned through genetics. But seemingly this field is just not on the radar. Numerous "top career" lists do not even mention the field. US News lists it at 92 (out of 100) in their top job list.
Just look at this Google Trends - over the past five years, people in the United States were on average 10x more likely to search "trash pickup" than "genetic counselor"!
Ridiculous comparison? OK, I agree, I'm guilty myself of trying to remember when trash day is every once in a while. So let's look at something more close at hand -- let's compare "genetic counselor" with "genetic test".
Americans are over 3x more likely to search for a genetic test than to search for the person who will help them understand what such a test may even do for them.
So why is this important for the social scientist? Well, to fully understand how genetic data may be useful for us, we need to bring on members to our team who can interpret these data for us. It turns out that analyzing genetic data is not just as simple as importing it into an SPSS / SAS / Stata / R formatted analytic file. Analysis requires a specialized knowledge that the average social scientist does not have.
Recommendation #1: If you want to pull genetic data into your social science studies - you better have a genetic counselor (or similar) on your research team.
The second feeling I experienced was what you may call a moral decision. In deciding to go through the process of being sequenced, I realized that I could potentially be taking valuable resources away from a sick person who needed them.
For me, even though there was a short pang of guilt, it was an easy decision for me to make. I knew that I would be using a service (more about the service later) that had a bigger purpose - one of outreach and education. The staff involved are using their knowledge to advance the science of genetic testing as a whole - and they are not working (most of them) in clinical settings where they would be pulled from ill patients.
So I got over that quickly. But I promised to be transparent in this blog - so I did not want to skip over reporting my thoughts on this issue. I committed to making this experience part of the advancement of this science. I would share my experience with others. If having shared it I influence even one person to go into this field or to include genetic data in their research resulting in findings that help someone someday, then it would be worth it.
Recommendation #2: In pursuing this type of work, consider the value of the scarce resources that you have. I have been trained by numerous interactions with human subjects review boards to consider not just the individual study participants, but the overall impact of your research on the whole as well.
You, kind reader, helped me move on. And so do I now... I'll be back with more soon...