Family History: A Window On Your Health

Good day. We’re here today with Dr. Francis Collins, the director of the National Human Genome Research Institute, to discuss the value of family history for your medical care. Dr. Collins is widely regarded as the scientist who led the Human Genome Project to its completion. Welcome Dr. Collins. I understand that family medical history can be very useful to the care of patients. Could you tell me a little bit about what the value of family history is?
Family history is a window into the heritable factors that every individual has in their DNA that may predispose them to one illness or another. If we’re really interested in trying to practice good preventive medicine and giving each of us a chance to individualize that instead of doing it in a one-size-fits-all fashion, family history is a great way to get started on that.
Simply by seeing what the medical conditions that have affected one’s blood relatives are, you can make some guesses as to your own risk. And that seems like information that would be very valuable and yet oftentimes is not actually collected. So we’re quite interested in seeing people do a better job of that in order to advantage their own health care.
Could you tell me a little bit about the types of conditions that are inherited or in other words run in families and perhaps a little bit about the red flags that might lead a person to believe that the condition is, in fact, inherited? Almost any condition could be heritable, in fact all diseases, except some cases of trauma, have some heritable factors.
But some are more strong than others. I think basically what one would want to look for is a pattern in the family of a particular disease or collection of diseases that seem to be occurring at a higher than expected incidence, just based on the likelihood of things striking that family more than once, is there something here that looks unusual, are there more people with a particular type of cancer, for instance.
Is the cancer coming on at an earlier than usual age? That can also be a clue that there’s a strong genetic factor at work. Are there clusters of conditions that are related to each other, some people with prostate cancer, some with colon cancer, that might actually have a similar genetic underpinning? Those kinds of issues, looking for patterns. My sister-in-law has several medical conditions.
I wonder, to what degree does, uh, do non-blood relatives contribute to family history information. Non-blood relatives don’t help very much in terms of predicting that individual’s risk of heritable conditions, ‘cause obviously they don’t share their DNA. They may be very important to the family and they obviously will have important social considerations for other family members who are aware and concerned about that person’s problem.
But when you’re collecting a family medical history, it’s the blood relatives that you’re particularly interested in recording – and that would be parents, and that would be your siblings, that would be your children. Those are all called first-degree relatives. But then going further: grandparents. Often a very useful window because they’ve lived a longer span of life.
Finding out what conditions they have suffered from and particularly conditions that were diagnosable. It’s not so interesting in this case of family medical history to know about particular surgical procedures or traffic accidents. It’s really more a kind of condition that you think may show a pattern in the family. If it’s a possibility of also collecting information about aunts and uncles and cousins, the more the better!
But the better plan is to focus, initially, on those first degree relatives and then expand out to the level that you’re able to do so. Collecting family history sounds like it could be a lot of work. Are their any tools available that allow a patient that wants to collect their family history to organize that information in a way that their doctor can use it? It is a fair amount of work, but it’s work worth doing, and there are more tools available now to empower individuals to do this kind of medical family history collection themselves.
Oftentimes in the past it’s been assumed that the physician would take responsibility of collecting the information, but in fact it wasn’t always done in an ideal way in that fashion. Oftentimes people sitting there being asked the questions weren’t quite sure about the family medical history of relatives that they hadn’t recently spoken to.
So there are now, I think increasingly, better opportunities for individuals to collect this information. A particular, valuable tool, is one the U.S. Surgeon General, working together with the genome institute, put together, which is available online and allows somebody, sitting at their computer, in a fully secure environment, and picking up the phone to call relatives, if need be, to get better information, to get all of this information entered into that kind of a software package.
And then you can print it out in a standard format that a medical professional is used to looking at: what we call a pedigree in the medical environment. That can then start a conversation about what this kind of information might be used for in terms of practicing better prevention. The URL for that particular opportunity to collect your own family history is: family history dot hhs dot gov (
Sir, could tell me a little bit about how your health care provider could use this information? So if you brought this medical family history to your health care provider, already accurately collected, this would be a very important opportunity to have a conversation about what patterns are there. Your physician would want to look and see who has had what conditions, is there something here that rings a bell as far as something that might be highly heritable and would be susceptible to a specific genetic test and some kind of intervention.
If it’s not quite of that sort of strongly heritable situation are there in fact factors here that suggest you might be at a higher risk for something like heart disease or cancer. Those are conditions for which interventions – be they medical surveillance or even drug therapy like a statin if you happen to be at a higher risk for heart disease – might be considered.
So it could really begin to move you into a pathway of talking about how to stay well, but doing so in a fashion that’s specific for you as opposed to some general prescription that you might give to just anybody. Thank you, Dr. Collins, for taking the time today to talk to us about family history.