It cost billions of dollars and took more than a decade to sequence the first human genome. That was more than ten years ago. Our understanding of human genetics has advanced considerably since then, and these days anybody can find out a lot about their genetic make-up just by sending in a sample of their DNA in the mail.
But with our genetic information becoming increasingly easier to access, what does that mean for genetic privacy? Washington University's Laura Jean Bierut (BYE-root) and the University of Chicago's Lainie Friedman Ross have strong opinions on the subject. They participated in a panel discussion on genetic privacy at Washington University's Brown School yesterday.
IPR's Veronique LaCapra spoke with them beforehand, and has this report:
LACAPRA: Whole genome sequencing involves mapping all of your genetic material - the roughly three billion building blocks that make up your DNA. University of Chicago physician and medical ethicist Lainie Friedman Ross says right now, it's mainly done in children with developmental disabilities.
"In my field of pediatrics for example we use it when we have a child who has a condition for which we don't have a diagnosis, and we can't figure it out with any of the more traditional means."
LACAPRA: Whole genome sequencing can give doctors access to a new source of medical insight about their patients. But the ethics of how to handle all that personal genetic information is still evolving.
One big question is what to do with what are known as "incidental findings." That's the term used when doctors discover genetic information that whole genome sequencing uncovers but that's unrelated to the patient's current condition.
Washington University physician and geneticist Laura Jean Bierut explains it this way:
BIERUT and LACAPRA (0:32)
Beirut: "If you're looking for an issue with developmental disability, or a congenital syndrome, you might find something else in the person's genome. You may find that they are at risk for breast cancer, at risk for colon cancer, at risk for a variety of other diseases. And so there's this issue about, what do we do with these incidental findings. Do we return these to the patients?"
LaCapra: "Meaning do we tell the patients about them."
Beirut: "Yes. Or not."
LaCapra: "And what's your answer?"
Beirut: "Um, so...there's a lot of gray zone..."
LACAPRA: And controversy. But Bierut believes patients should be informed if they have mutations in the five dozen or so genes that existing research has strongly linked to disease.
Ross disagrees. She says we still don't know enough about what so-called "high risk" genetic variations really mean, or how they interact with environmental factors.
ROSS, LACAPRA, and BEIRUT (2:55)
Ross: "When we look in low-risk families, it turns out some of them have those genes, and may never go on to develop the health problem.
So we're now creating...patients-in-waiting, people who are waiting for in a sense the rock to fall, and the rock may never fall. And so we're creating a lot of anxiety, and remember, these are conditions that we're not expecting even to present for decades, when medicine will have evolved a lot, and it might make more sense to wait before we have that information."
Beirut: "So I think it's the question of whether the glass is half full or glass is half empty. I think at this point we have a tremendous amount of information about many of these genes. Is it perfect at this point in time? Absolutely not. Are we going to find more information about new variants that are pathogenic? Absolutely. Are we going to understand that the risk of some of these variants is less? Absolutely. However, the risk for many of these variants is quite high."
And, with this high risk, the question is do you want this information or not. So let's give the example of a child. For example the breast cancer variant, the BRCA mutation. When you have a child in front of you, and you identify this variant in the child, you also know that this variant came from one of their parents."
LaCapra: "This is a gene, that ? the BRCA mutation that you're talking about ? B-R-C-A ? it's a gene that would predispose you to developing breast cancer, as an adult, obviously."
Beirut: "Yes, breast cancer, ovarian cancer. Angelina Jolie is probably like the famous person, having this variant. So, now you know that this child has the variant, and you have the information that one of the parents has the variant. And they may not know that they have this variant.
So you really kind of ask this question: you have this information. It's true that the child will not develop the disease for a long time. But you have a parent standing there in front of you. And you have information about that parent. And it is this balance about what do you do."
LaCapra: "Lainie, do you agree with that, that there's some benefit for the parent to finding out that the child might have a genetic variation like that?"
Ross: "So the answer is maybe. First of all, the parent may have that genetic mutation, and many people and their family history may have that genetic mutation, and it may never have presented. So we are saying that we are informing you about BRCA. Turns out that in high-risk families that gene is highly penetrant in about 80 percent, or four out of five people who have the gene will go on to develop breast cancer.
Turns out in the low risk population, it's much less. It may be one-third. That's still a high risk. But remember those of us who don't have BRCA, we have one in nine chance of getting breast cancer. So were not changing the risk that much."
LACAPRA: But Beirut says we have an obligation to use the genetic knowledge we already have. And she says in the future, it will only get easier for people to discover their genetic make-up ? whether doctors want them to, or not.
We are undergoing a genetic revolution, and I see genetics entering medicine. Our goal should be to see how do we have it enter medicine safely, efficiently, effectively. And part of that, I see, will be the information is given to individuals.
LACAPRA: Ross doesn't see things that way. She says there's still too much we don't understand.
"We understand one gene/one disease. What we don't understand is, there are modifiers within the genome and various environmental modifiers. And we don't understand any of this. So we keep giving this very accurate, specific information, when really the accurate information is, it's ambiguous; we still don't know enough. But we're giving you a very specific...relative risk compared to other people, and that's just wrong."
Friedman Ross and Washington University's Laura Jean Bierut (BYE-root), speaking with St. Louis Public Radio and the Beacon's Véronique LaCapra. The two were part of a larger conversation on the ethics of genetic privacy that took place at Washington University in St. Louis yesterday.
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