It’s no secret that genomics is cutting edge science. It is exciting, it is changing the way we think about ourselves and the medical care we receive. But with all the “gee whiz” aspects of what we are discovering every day about our genetic code, it may be surprising to learn that one of the most important parts of our new tool kit may be sitting right there in front of us gathering more dust than attention.
This revelation came while attending a conference this past week sponsored by a group called HL7. HL7 develops standards for the exchange, integration, sharing, and retrieval of electronic health information in the healthcare setting. They convened this particular meeting to better understand how we can more effectively integrate genomic data into health care delivery and research so we can full advantage of the information from genomic-derived science that is coming at us like a tsunami.
What stood out amidst all of the topics discussed-and what achieved the greatest consensus among the conferees-was the role that the tried-and-true basic family history can play in helping us understand how the information provided by genomics fits together with real life. That’s correct: the old fashioned family history that you occasionally fill out in the doctor’s office that neither you nor your health professional usually pay much attention to.
Perhaps that needs to change.[more]
There is no question we need to understand how we are going to incorporate this incredibly rapidly progressing science and technology into our health care ecosystem and make it work for consumers. But what stood out through all the fascinating presentations and discussions was the notion that making certain one knows their family history is going to remain a very important part of the genomics landscape for the foreseeable future.
Yup, the plain vanilla family history. The information you should know about the health, diseases, and causes of death of your extended family tree. Even though we can look at your entire genetic code-and experts predict it will be routine to get that information at birth (and even maybe before birth or even at the time of conception)–it will be the family history that will help us make sense of the information we will have at our disposal.
Not that many of us do such a great job of putting together a family history, or that many of us even have access to those records or even really care about their family health history. I know I don’t have that information, and I am talking about the generation just ahead of me. They didn’t discuss their health, they certainly didn’t mention the word cancer, and the medical records are long gone. And my grandparents, great uncles, aunts, whatever? Well, pretty much forget about it.
But when one has that information it can be powerful.
A genetics professor from the University of Utah showed us family pedigrees that went back over a hundred years and included multiple layers of extended family relationships. What she has been able to demonstrate is that by carefully looking at family trees, then backing up those observations with genomic tests, one can discover genetic causes of disease that would never have been suspected of being inherited-but they just may be. Recently, they found a family based gene that predisposed others in the family to melanoma just by this type of sleuthing.
If only we had the tools to make this process easier. What if we could share data about family histories across electronic medical records from our relatives?
That is a pretty complicated thing to do for a number of reasons, some of them because of technology and some because of privacy. And what if your doctor or health professional actually spent the time obtaining a family history? No, I am not talking about the typical thing you do when you go to the doctor’s office and check off the boxes. I mean really asking the questions and having you supply accurate information. Unless your health professional is oriented to do this or has a specific interest/specialty in genetic diseases, it doesn’t happen the way it should in our current world of shortened medical visits and disjointed care delivery.
The good news is that there are some online tools that are being developed to help you along your way. And inevitably someone is going to fill the gap to make it even easier. The real barrier is whether we as consumers understand how important the family history is-before we become seriously ill, and have a strong vested interest in the information, which may be too late to get the information we need to make a difference in the treatment or diagnosis of our illness.
So here is a tip of the hat to the incredible new science behind genomics and the promise it holds to improve our health and improve our future. And, yes, the future is now. But that future needs a helping hand from something old, and that’s the role of the family history.
Perhaps the next time your family gets together, maybe at a family celebration or reunion, why not make it a project to fill in the blanks about your aunts, your uncles, your cousins, your grandparents, whoever is there? Figure out where they fit on that tree and get the information you need to understand what diseases may run in your family. It could just make that celebration even more memorable than it otherwise may have been. And it could well save a life, or help inform the science of genomics.
Remember: Just because it’s old fashioned information doesn’t mean it can’t be helpful for moving us forward on the new genomic frontier.