Cardiovascular genetics: case studies.

• Position: Is There a Pink Slip in Your Genes? Genetic Discrimination in Employment and Health Insurance - Transcript

It's really a pleasure to be here. I want to thank Kathleen [Engel] and Dena [Davis] for inviting me. As I was thinking about how I was going to start this off, I absolutely promised myself I wasn't going to say anything about lawyers. I'm actually quite anxious, because this is, in fact, the first time I've spoken to a group of lawyers. It is, however, of course, not the first time I've spoken in front of lawyers, and I wasn't going to say anything until the court stenographer was here, and it does send chills up and down my spine.

So I promised myself I wasn't going to say anything, I was going to be really good, but I had to.

Now, the question is, why am I on the panel, and my sense of why I'm on this panel is to give you some grounding about how this all gets found out, why is this a problem, and keep in mind that I am here as a clinician, somebody who takes care of patients, and somebody who is either one step removed from your primary care provider or sometimes I get direct referrals from a family or so forth directly asking me to evaluate their cardiovascular problem, usually in their children or if they have concerns about an inherited cardiovascular problem they'll come and see me, and then very frequently I will see a problem that I will then seek the help of a geneticist. And when Dr. Wiesner speaks a little bit later today, you'll hear from somebody who is a geneticist who only very occasionally gets direct referrals but is always in a position of trying to understand the genetic basis of disease's based on the observations of other health professionals that tend to funnel patients to her.

So I'm going to try to give you how I think of genetic disease as a clinician and what you might expect your physicians to think about or what you might expect the health professionals and companies to be thinking about as they look at patients. The next thing I want to say before we start off with the slides is that it's very important to realize that there is an enormous variety of humanity and that variety is also based on our environment.

I think it is fair to say that as much as I will try, I can never play professional basketball. I could try every day to exercise and practice and practice and there's no way that I would be in the NBA, and perhaps one in contrast could say that there would be nobody in the NBA or there would be few people in the N'BA who could do pediatric cardiology and there are some people who are very gifted in language and others who are not.

So there's a huge variety of humanity, some of which is genetically based, some of which is environmentally based, and our understanding about how they interplay is really now only at a very basic level.

And, for example, the complexity of all of us is extraordinary. How oar genes carry out instructions is very complicated, and so it's not like having a Pentium or one gigahertz memory chip. We're not all exactly the same and we can't all be expected to be the same.

And that leads to another important thing to think about during today from a clinician standpoint, and that is something that Commissioner Miller brought up yesterday: What is asymptomatic? And what is 'sick'? These are not black and white questions, and it's very important...