Here Is a Human Being: At the Dawn of Personal Genomics

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You know what it's all about. So in my own genome, I was found to carry a mutation for Fanconi anemia, which is a terrible, but, fortunately, very rare childhood illness, which means my young daughters, potentially, are carriers as well. And, I think, when the time comes, my wife and I will have a conversation with them about things that they may or may not want to know.

Here Is a Human Being: At the Dawn of Personal Genomics

Caplan, that is precisely the issue that comes to mind for me. As you have said, Kevin Davies, all of us have some glitch, and part of being human is being imperfect. So that if we concentrate on the imperfections as opposed to living the life we have, isn't there a little problem there? If this is going to kind of -- if you think, I don't know if I can handle this information, then, for God's sake, go live your life and ignore these issues. But, you know, down the road -- that may be your opinion now. Ten years later your -- you may have a child, or your child may have a child, and this issue could come up in a different context.

Or as you get older, you may start to worry about other kinds of diseases that, while you're in your teens or early adulthood are of less concern. CAPLAN Well, I think when you feel you can take action to diminish risk, that's when you're going to get interested in genetic testing. So if we really do expand -- and I think we will -- the way in which we understand how drugs interact with us to cause adverse events or problems or benefits, that will help us do more genetic testing.

But if we can't do much about risk, I think people aren't going to run over and spit in a cup yet. We'll be right back. REHM And welcome back. We're talking about genetic sequencing, what that information can give us, how it's used and who may use it for what purpose. Just before the break, Arthur Caplan of the University of Pennsylvania made the statement, Misha, that he felt unless a person could be helped or treated with the information obtained by the genetic sequencing, he wouldn't be so much in favor of it.

You had a response. I view my genome sequence as a savings bond, essentially. I have it. I'm probably not going to do much with it, but I fully expect that it will be useful at some time in the future to me and to my family. And, I think, if somebody does not want to learn that they are at, say, three-fold or fold higher risk of developing Alzheimer's in 20 or 30 years, as Kevin said, by all means, they should not learn that.

That said, people may want to enroll in drug trials.


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They may want to plan how they want to live their lives. REHM But is the information one gleans from genetic sequencing that is currently available, will that point to Alzheimer's, Parkinson's or any of the other neurological disorders? There's a lot of environmental factors that inevitably play a role, but as Misha mentions, Alzheimer's Disease -- there's one particular gene on many of these platforms that you can look for called APOE, that is really quite predictive of the overall risk of developing Alzheimer's Disease.

And that's one that when Jim Watson was sequenced in , he specifically asked not to be told the identity of which variant of that gene he had inherited because he didn't want that bit of too much information.

I do believe there are people who would want to know information about themselves just because it's their information. I just don't believe it's going to be a good business model.


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I don't think it's going to lead to hordes of people running out there saying, yeah, I'd just kind of like to know my genome sequence. The other thing I'd say is this, I said I thought the future is brighter as we start to learn how to intervene or treat or modify things. I'm a little nervous, Diane, that when we start staying, you know, I have a genetic risk for this or a genetic risk for that, we shouldn't forget that there are a lot of cultural and environmental factors that contribute to these risks.

I might find out that I'm inclined to, you know, have a taste for sugar or metabolize fat more than the next person, and so I'm at risk for obesity. But I'm also at risk for obesity if I drive home, and I have to pass by 11 fast food places before I get there. So we don't want to put the burden, as we begin to learn about our genes, for responsibility, for health just on ourselves -- although I certainly understand there's a role there.

But there are a lot of things going on that affect our health that we don't have control over that are "out there.

Writing about Personal Genomics in the Postgenomic Era

We'll open the phones now. First, to Wichita, Kan. Good morning, you're on the air. SUE Good morning. I want to say that nobody has touched on reducing risk for future generations yet. I think this has broad ramifications for adoption law and closed records. Would you respond to that, please?

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DAVIES I don't know a whole lot about adoption law, but one area that is sort of allied to what we've been talking about is the emergence of companies that will allow parents or people considering starting a family to really take a complete sort of infantry of their genetic risks, looking at more than different genes, so that you can see and match up what you're a carrier for with what your partner's a carrier for -- as Misha eluded to a little earlier, with a rare disease called Fanconi anemia.

There's a company in California called Counsel that is offering this. Now, it's very affordable, so for people who really -- yeah, because of something they've known in their family history, perhaps, this is something -- this is something they can do right now. When you do genetic testing these days, one of the things that jumps out at you very clearly is when you have the same genes lined up for long stretches of chromosomes, and that means incest.

It means some kind of interbreeding, either that the person may be aware of in their past because of rape or assault or maybe that they didn't know because they wound up being the product of a marriage between people who were, let's say, children from the same sperm donor.

CAPLAN I think adoption and infertility treatment is going to be pushed by new genetic knowledge to end closed adoption and to end the secrecy of sperm and egg donors. People are going to expect that if they want access to their genetic information and they're going to use it down the road to guide their health, they're going to have to know who their parents are 'cause that's a key part of doing genetic analyses. And so, I think, the caller is basically saying, the world we used to live in where if you got adopted, you didn't know much about your birth parents, or if you were a child of an infertility process -- sperm donation -- I think we shouldn't be telling people who are sperm and egg donors they're going to have their privacy.

I don't believe that's true.

Book Review – Here Is a Human Being, by Misha Angrist | Communicate Science

It will collapse. A few years ago, a year-old donor-conceived boy, very precocious, used a combination of genetic testing and very clever online genealogical searching and found his biological father. ANGRIST And this is already going on, and I think people forget sometimes that these are, in many cases -- if not most cases -- single women who are interested in knowing as much as they can about their donors. REHM Here's an e-mail from Kurt in New Jersey, "Is there a danger of personal genetic material being patented without any financial compensation to genetic donors?

I actually spend a fair amount of my time thinking about this question. Gene patents have been around for a few decades now, and the courts have consistently ruled, at least until fairly recently anyway, that once your tissue or DNA leaves your body, you really have no property rights to it. And the courts have consistently said if we start cutting patients and donors in on the action financially, then this is going to hurt the fragile biotech industry. It portrayed a society where sort of the haves have all been genetically screened and sequenced, and they're in control.

And there's that sort of an underclass of mutts who have reproduced the old-fashioned way, you know, the fun way. For the most part, I think, that's -- that is science fiction. And what we're talking about is simply giving empowerment and information to people to learn about their -- we were just talking about adopted individuals. They find this very useful because they learn something about their ancestry as well as their health traits that they may not get from their adopted parents.

But we had a couple -- this is years ago now -- come in, both of them deaf due to genetic defect that each had, and they wanted to get genetic testing of their embryos. And we said -- or a counselor said -- I didn't say it -- oh, that'll be good, you can avoid deafness. And they said, oh, no, no, no, we want to pick an embryo through genetic testing because we want a deaf child just like us. CAPLAN So we faced the question, sometimes if someone has congenital dwarfism or other ailments, not everybody sees them as an ailment. Would we do whatever the parents want I think, right now, we're talking diseases, but soon we will start to be talking about traits that people desire and not so much in testing ourselves, but in testing our embryos or our gametes.

There is an aspect that we're going to have to face of how far we go in using that information to design our descendants. Good morning, Ann. You're on the air. ANN Good morning, Diane. I would like to share how my doctor reacted to two of the results from 23andMe that I shared with her. And my doctor was in research as a PhD researcher and finally decided she wanted to work with patients, so she went back and got her medical degree. So she may look at all of this differently than a normal doctor. But she was extremely pleased to know that I am very sensitive to Coumadin, which we would not have known before, and that could make a difference 'cause I do have heart problems in the family.

ANN And the second thing, I had a paternal member of the family also test, and we discovered that on both sides, I am very highly at danger for bladder cancer. We never would've known that. It didn't scare me to death. What it did was make my doctors say, we're going to start monitoring that with tests that would not have been done before.

And the broader point is that, yes, we have these anecdotal stories of harms and potential harms. We're also starting to accumulate anecdotal stories of benefits.

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