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Speaker 1: first on this episode of New World, Genetic testing has

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Speaker 1: become a multi billion dollar direct to consumer business. They

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Speaker 1: have test available now to discover your ancestors, reveal your

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Speaker 1: food allergies, even on cover andherded chronic diseases. The test

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Speaker 1: to become so popular more people took genetic ancestry tests

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Speaker 1: in twenty seventeen than in all previous years combined. But

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Speaker 1: how reliable are these direct to consumer tests and what

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Speaker 1: can they really tell us about our health? On this episode,

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Speaker 1: we're looking at the business of genetic testing, the reasons

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Speaker 1: why someone may want to decide to take the test,

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Speaker 1: and the importance of counseling and medical oversight in the

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Speaker 1: process as DNA becomes a commodity sought after by scientists

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Speaker 1: and biotech companies. Will address the privacy issues that loom

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Speaker 1: over the genetic testing industry and ask does the industry

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Speaker 1: have enough oversight by regulators to protect consumers. My guests

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Speaker 1: are Meghan Bell, genetic counselor at Sanford Health, doctor Catherine Hyak,

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Speaker 1: physician Shair Sanford Imagenetics, and doctor James Hazel, research Fellow

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Speaker 1: at the Center for Genetic Privacy and Identity in Community

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Speaker 1: Settings at Vanderbilt University Medical Center. I think our goal

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Speaker 1: here is to both give people a reassuring sense of

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Speaker 1: the right kind of approach to DNA testing and how

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Speaker 1: it relates to preventive care and to identifying specific diseases.

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Speaker 1: How did you get interested in this whole process of

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Speaker 1: genetic counseling. I love my job, I love working with families,

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Speaker 1: maybe just starting with one member of the family that

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Speaker 1: is either at risk or has a genetic condition, and

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Speaker 1: then oftentimes being able to work my way through their

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Speaker 1: brothers and sisters and their kids, and their uncles and

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Speaker 1: aunts and their parents to just inform the family and

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Speaker 1: reassure the family that they know what their risks are

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Speaker 1: and they know the steps to take to be be

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Speaker 1: able to have the best health that they can. How

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Speaker 1: does the process start? Oftentimes a patient is referred to

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Speaker 1: us by their doctor because of either a personnel or

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Speaker 1: a family history of a condition or a symptom, so

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Speaker 1: that might be a cancer at an early age or

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Speaker 1: a specific heart problem, and from there they meet with

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Speaker 1: a genetic counselor in the first step oftentimes is taking

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Speaker 1: a family history and a personal history to learn more

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Speaker 1: about what are they dealing with, What does their family

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Speaker 1: look like, what type of symptoms or characteristics do their

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Speaker 1: family members have, and then from there really assessing and

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Speaker 1: giving them an understanding of what are we seeing in

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Speaker 1: the family, what sort of patterns are we seeing, does

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Speaker 1: it look like there could be a genetic cause to

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Speaker 1: the different symptoms that they're presenting with, And then sometimes

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Speaker 1: genetic testing is appropriate, not always, not every condition has

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Speaker 1: a genetic link. But if genetic testing is appropriate, then

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Speaker 1: we would talk about not only what the testing options are,

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Speaker 1: but what the testing would mean for my patient. And

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Speaker 1: I think that's the key part of this whole discussion

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Speaker 1: is thinking through what do I want to have genetic testing?

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Speaker 1: Would it be helpful for me? What does it mean

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Speaker 1: for me? What does it mean for my family members?

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Speaker 1: Does my family want to know this information? But would

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Speaker 1: I do if I test positive or have a genetic condition?

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Speaker 1: What sort of medical management or screening options are out there?

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Speaker 1: Is there anything I can take to reduce my risk?

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Speaker 1: So those are the types of that conversation that we have,

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Speaker 1: just figuring out what does this mean for a patient

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Speaker 1: and is this the best choice for them? What's the

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Speaker 1: difference for me as a potential patient between going to

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Speaker 1: some kind of over the counter product that I might

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Speaker 1: have seen advertised on TV and going to a system

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Speaker 1: like the one you work in. What's the difference qualitatively

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Speaker 1: in safety and in what I will learn? So there

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Speaker 1: are a lot of options on the market called direct

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Speaker 1: to consumer tests. So a lot of those are you

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Speaker 1: spit in a tube, you don't meet with a healthcare provider.

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Speaker 1: You don't it's not ordered by a doctor, and therefore

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Speaker 1: you don't often get that discussion of what would this

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Speaker 1: test mean for me? What would it mean for my family?

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Speaker 1: Most of those tests aren't reporting a lot of health information.

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Speaker 1: They might be reporting some health information, most of the

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Speaker 1: time it's related to ancestry or some sort of trait.

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Speaker 1: So meeting with a genetic counselor and having real clinical

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Speaker 1: genetic testing is one more accurate and two more specific

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Speaker 1: to the actual condition that the family could be presenting

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Speaker 1: with how much of what you learn is useful for

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Speaker 1: general preventive treatment and how much of it is useful

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Speaker 1: and primarily narrowing down or identifying specific disease states. I

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Speaker 1: like to say that genetic counseling could be appropriate for anybody.

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Speaker 1: I think everybody has something in their family that they

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Speaker 1: worry about or they wonder could this be genetic? Or

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Speaker 1: is there anything that I can do about it to

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Speaker 1: prevent my risk or reduce my risk. But that doesn't

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Speaker 1: mean that everything in a family is genetic or every

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Speaker 1: health problem has a genetic link. A majority of the

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Speaker 1: common conditions like heart disease or diabetes, or even most

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Speaker 1: cancers are multifactorial, so they have both genetic causes and

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Speaker 1: environmental causes, and all of those factors go together to

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Speaker 1: create the risk for somebody. And so not every health

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Speaker 1: problem has a genetic link, and most common conditions are

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Speaker 1: kind of that multi factorial risk factors. What's the longest

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Speaker 1: time you found yourself interacting with a family or with

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Speaker 1: an individual. Five been in the field for about five years,

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Speaker 1: and there are still some families that I started working

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Speaker 1: with not long after I started as a genetic counselor

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Speaker 1: that I'll get a call from either an update of

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Speaker 1: how they're doing or a change in their health history,

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Speaker 1: or maybe one of their siblings or children is ready

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Speaker 1: for genetic testing, because it's oftentimes scary to think about

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Speaker 1: your health risk and what might be down the road

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Speaker 1: for you, and so not everybody in a family is

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Speaker 1: ready for genetic testing at the same time, and so

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Speaker 1: oftentimes months or years go by and I'll get a

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Speaker 1: call from a family member wanting genetic testing or wanting

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Speaker 1: to talk about what that means for them at a

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Speaker 1: later date. You get to know a family really well

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Speaker 1: by taking their family history and not only learning about

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Speaker 1: the health stuff that's going on in a family, but

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Speaker 1: also how family members interact, what their relationships are like,

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Speaker 1: do they talk to their sister, do they have a

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Speaker 1: relationship with their child? So you really get to know

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Speaker 1: the family dynamics of a family. Can I call you

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Speaker 1: direct or do I have to have a doctor recommend me?

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Speaker 1: Most of the time we require a referral from a doctor.

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Speaker 1: But if a patient was interested in talking with a

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Speaker 1: genetic counselor, I think another option is just to call

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Speaker 1: into a healthcare system and I asked to talk to

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Speaker 1: the genetic team, and most of the time they can

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Speaker 1: get their questions answered that way. Let's say I have

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Speaker 1: been referred to you, what do I go through? The

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Speaker 1: first step when we see a patient is taking a

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Speaker 1: really good family history. We often take a three generation pedigree,

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Speaker 1: so going back three generations each direction, and then really

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Speaker 1: talking about what are we seeing in that family, what

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Speaker 1: sort of symptoms might be associated with a genetic condition

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Speaker 1: or genetic syndrome, and then what are testing options that

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Speaker 1: are available if genetic testing might be applicable, and we'll

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Speaker 1: talk through what those options are, what that would mean

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Speaker 1: for a patient, what the possible test results are, how

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Speaker 1: it might impact their family, members, their medical management, their screening,

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Speaker 1: and then what it would look like for giving their

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Speaker 1: results and if they were positive, if they had a

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Speaker 1: genetic condition found, where would they go from there? What

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Speaker 1: doctors would we refer them to, and what would that

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Speaker 1: mean for them and their family? Do you find fairly

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Speaker 1: often that if a person comes in and presents to

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Speaker 1: you and you discover a certain genetic pattern, that that

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Speaker 1: does lead you then to try to track it back

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Speaker 1: to the rest of their family to see if they

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Speaker 1: need to find out whether it's sort of a common

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Speaker 1: pattern in the entire family. Oftentimes patients are motivated by

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Speaker 1: helping their family and trying to allow their family to

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Speaker 1: have more information than they had prior to their diagnosis.

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Speaker 1: Do you then work directly with the doctors? Most of

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Speaker 1: the time, genetic counselors work in a healthcare team with physicians,

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Speaker 1: just so everybody knows how to best manage the patient.

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Speaker 1: Do you find with all the breakthroughs we're getting in

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Speaker 1: genetic information and technologies and all that, do you find

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Speaker 1: that you have a challenge of continuing education just to

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Speaker 1: keep up with your field. Our fields changed so much

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Speaker 1: even in the five years that I've been in the field,

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Speaker 1: the availability of different testing options of what we know

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Speaker 1: just from the research side of things is incredible. We

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Speaker 1: really are constantly trying to learn more and stay up

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Speaker 1: to date with the testing options, with the new conditions,

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Speaker 1: everything that we're learning in the research world. It's also

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Speaker 1: really hopeful for our patients that we're constantly learning more

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Speaker 1: about their condition and how they might best treat or

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Speaker 1: manage their conditions. So there's a lot of hope there

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Speaker 1: for the families that we work with. How many people

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Speaker 1: are directly affected by specific genetic defect that leads to

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Speaker 1: these So typically we say with cancer more specifically or

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Speaker 1: breast cancer, about five to ten percent of those have

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Speaker 1: a pure genetic cause. Another example of that might be autism,

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Speaker 1: where we might be able to find right now the

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Speaker 1: genetic cause of about thirty percent of autism cases, and

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Speaker 1: it totally depends on the type of condition and what

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Speaker 1: we know so far about the genetic cause. That risk

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Speaker 1: or chance of finding something genetic is going up as

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Speaker 1: we learn more about all the different genetic causes of

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Speaker 1: different conditions. So anyone said to me that there's no

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Speaker 1: such thing as cancer, that they're actually at least two

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Speaker 1: hundred different diseases that we lump together and call cancer.

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Speaker 1: That's a huge area of growth is the personalized treatment

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Speaker 1: of cancer. And each cancer is really driven by a

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Speaker 1: different genetic change. Even if cancer isn't hereditary, the risk

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Speaker 1: has passed down in the family. Cancer is really caused

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Speaker 1: by a change in the genes, and that's different person

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Speaker 1: to person, even breast cancer to breast cancer, colon cancer

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Speaker 1: to colon cancer. We've learned a lot about how specific

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Speaker 1: that cancer is to somebody. And so the youth said

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Speaker 1: that there might be two hundred types of cancers, Well,

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Speaker 1: it's probably even bigger than that, because every different cell

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Speaker 1: type that causes cancer often has a different mutation profile

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Speaker 1: that could be treated differently and targeted differently. And so

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Speaker 1: sometimes we like to say as we learn more about genetics,

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Speaker 1: we learn more about what we don't know and how

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Speaker 1: complicated it is, which is both exciting and a huge

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Speaker 1: challenge as we think about developing personalized treatments to different

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Speaker 1: genetic conditions. Does that also mean that as you look

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Speaker 1: out of the future, more and more doctors are going

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Speaker 1: to turn to professionals like you and say, I need

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Speaker 1: the following kind of test for this particular patient. To

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Speaker 1: help me decide which track to go down and treating them,

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Speaker 1: so you actually become more responsive to the doctor's desire

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Speaker 1: for specialized information. I think learning what's causing a particular condition,

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Speaker 1: if there's a genetic cause, can definitely change treatment. One

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Speaker 1: way that we often see that, and I've been involved

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Speaker 1: with testing for patients, is for learning about a genetic

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Speaker 1: cause of high cholesterol. And if we can learn what's

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Speaker 1: causing that high cholesterol, if it's diet related or not

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Speaker 1: having a lot of exercise, or if it might be

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Speaker 1: actually a genetic predisposition to develop that high cholesterol, we

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Speaker 1: actually will recommend a different medication to help reduce that

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Speaker 1: cholesterol that really was driven by the genetic test that

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Speaker 1: was done to help direct that treatment. One last question

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Speaker 1: in order to do the testing, do you take blood

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Speaker 1: or do I spit into a tube? What's our interaction

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Speaker 1: for you to have the material to actually figure out

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Speaker 1: what's going on? Great questions. So oftentimes genetic testing can

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Speaker 1: be done either through blood or saliva, and really what

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Speaker 1: we need is just a DNA from different cells of

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Speaker 1: the body, and so blood is kind of the standard

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Speaker 1: sample mechanism, but we're getting creative in the ways that

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Speaker 1: we can get DNA, so sometimes it's easier for our

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Speaker 1: little kiddos that we see that don't want to give

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Speaker 1: a blood sample to do saliva or a cheek slop. Listen,

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Speaker 1: thank you so much, and I'm delighted that you are

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Speaker 1: disenthusiastic and that you are this committed to helping the patients. Well,

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Speaker 1: thanks for having us on and being able to talk

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Speaker 1: a little bit about what we love to do. When

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Speaker 1: we come back. Doctor Catherine Hyak explains the importance of

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Speaker 1: medical oversight in the genetic testing process. Doctor Katherine Hyak,

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Speaker 1: what led you to get interested in DNA. The reason

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Speaker 1: I went into internal medicine is I love the patient

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Speaker 1: relationship and also the preventative side of medicine that goes

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Speaker 1: with internal medicine. And I practiced for a couple of years,

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Speaker 1: and as I was practicing, I started reading more and

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Speaker 1: more about genetics and medicine and how that application can

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Speaker 1: really play a role in prevention. So I kind of

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Speaker 1: took the leap and went back for a fellowship in

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Speaker 1: genetics with really my goal in doing that training was

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Speaker 1: to learn how to better incorporate genetics and really more

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Speaker 1: into the primary care setting. Now that said, I do

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Speaker 1: enjoy the rare disease component of it, but I think

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Speaker 1: it's really exciting the opportunity that exists for us to

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Speaker 1: start thinking more about genetics in a broader sense, and

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Speaker 1: that's been part of my role here at Sandford. A

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Speaker 1: lot of the clinicians I work with haven't had genetics

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Speaker 1: in their training, like I didn't before I went back

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Speaker 1: for fellowship. How do you keep up with the rate

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Speaker 1: of change and the explosion of new understanding of DNA

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Speaker 1: and the whole process by which the human body regulates itself.

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Speaker 1: That's one of the reasons I love this field because

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Speaker 1: it is ever changing and we're learning something new all

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Speaker 1: the time. At Stanford, we work with a lot of

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Speaker 1: different collaborators, so obviously they're ets and all different areas

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Speaker 1: of genetics, and so we try to have involvement with

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Speaker 1: different people in different groups to leverage their expertise and

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Speaker 1: what we do here at Sandford. As a geneticist, there's

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Speaker 1: no way to stay up to date on all of it.

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Speaker 1: Most people kind of focus in a given area and

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Speaker 1: then leverage the expertise of others to help maintain that knowledge.

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Speaker 1: What do you see as a really exciting areas of

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Speaker 1: breakthrough from genetic knowledge as it relates to the patient

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Speaker 1: and practical daily realities. Now last few years, there's been

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Speaker 1: a heightened interest among patients to how their genetics impacts

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Speaker 1: their health, and I think what that's provided us the

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Speaker 1: opportunity with is to take the responsibility and help people

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Speaker 1: do that in an evidence based manner. My key interest

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Speaker 1: in going into medicine basically in general is prevention, and

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Speaker 1: now we're learning things that we can test for in

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Speaker 1: a more preventive of light. There are currently just a

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Speaker 1: handful but a few conditions where if you do a

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Speaker 1: genetic test for them, you can be preventative in nature.

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Speaker 1: For example, forreditary breast andal varying cancer. That's a condition

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Speaker 1: where a patient who is affected has a significantly increased

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Speaker 1: risk for breast andal varying cancer, and you can actually

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Speaker 1: take action and do enhance surveillance in some cases take

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Speaker 1: the step of doing prophylactic interventions like surgery to reduce risks.

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Speaker 1: But I think it's really exciting to be able to

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Speaker 1: provide that knowledge back to patients so that we can

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Speaker 1: be more precise and how we design a screening protocol

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Speaker 1: for them. Another really exciting area is obviously gene therapy.

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Speaker 1: There are just a very small number today of conditions

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Speaker 1: where gene therapy can reverse what the trajectory of some

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Speaker 1: of these very severe conditions can be. The potential that

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Speaker 1: exists there as you just life changing for the patients

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Speaker 1: that it can impact. I think we're just on the

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Speaker 1: front end of where that part of meta is going

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Speaker 1: to go. Do you find that because of the nature

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Speaker 1: of a lot of genetic information that it almost invariably

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Speaker 1: leads you to an interest in the family as opposed

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Speaker 1: to the individual. Yes, there's no doubt about that. We

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Speaker 1: always say genetics as a family affair. The other thing

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Speaker 1: that I will tell you I see patients in my

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Speaker 1: clinic and one of the questions I always ask is

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Speaker 1: what do they hope to learn today? And why are

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Speaker 1: they here? I would say nine of the time the

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Speaker 1: response is I want to know what's going on so

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Speaker 1: that I can help my family, so that if there's

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Speaker 1: something that I can pass along to them, that we

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Speaker 1: can know that and be proactive about it. So, yes,

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Speaker 1: it is kind of twofold, you know. Obviously, it allows

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Speaker 1: you the opportunity to be more precise on the individual level.

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Speaker 1: But that just then opens the door to helping out

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Speaker 1: the relatives of that individual in a pretty significant way.

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Speaker 1: So you could really run down a trail, can't you

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Speaker 1: give again to track down everybody in the ended family

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Speaker 1: that has that particular genetic defect. Once you diagnose one person,

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Speaker 1: one of the key parts of that conversation is, let's

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Speaker 1: talk about your family members at risk. We really try

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Speaker 1: to help patients inform their family members. Sometimes that can

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Speaker 1: be a difficult conversation and it's really family dependent to

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Speaker 1: Some families are very open about this type of information.

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Speaker 1: Others are a little more closed off, and so we

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Speaker 1: try to help them with that conversation. We really always

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Speaker 1: consider the family when we see an individual of the

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Speaker 1: genetic condition, because these are also fairly complicated things and

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Speaker 1: obviously a new piece of information for a family, and

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Speaker 1: so we want to do the best we can to

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Speaker 1: equip them with the ability to communicate that. So you

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Speaker 1: really in a sense of making a huge difference between

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Speaker 1: the sort of over the counter stuff that gets advertised

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Speaker 1: and the process of having a real relationship up with

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Speaker 1: a doctor that involves an in depth understanding of what's

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Speaker 1: going on and what the implications are. I mean, there's

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Speaker 1: an enormous gap there that I think people don't realize.

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Speaker 1: I think that's true. A lot of times we'll talk

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Speaker 1: about over the counter, direct to consumer tests as being

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Speaker 1: kind of for entertainment purposes. There's typically no physician or

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Speaker 1: genetic counselor involved in that process, and the testing is

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Speaker 1: typically not comprehensive enough to be what we would consider

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Speaker 1: diagnostic in a clinical setting. It's important for people to

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Speaker 1: know that that gap exists and to know what those

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Speaker 1: limitations are, because it is quite a bit different than

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Speaker 1: actually doing this in a clinical setting. Not to say

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Speaker 1: people shouldn't do it, it just has to be done

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Speaker 1: knowing that this isn't something that should be used as

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Speaker 1: a part of your medical record or medical decision making.

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Speaker 1: From your perspective, how much of what you do is

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Speaker 1: preventive and how much of it is trying to do

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Speaker 1: an analysis that leads to a treatment for an exist

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Speaker 1: in condition. I do mostly preventive. There are very few

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Speaker 1: things that I diagnose where there's a treatment. We're very

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Speaker 1: upfront about that with patients. When a patient comes in

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Speaker 1: and it appears that there could be a genetic underpinning

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Speaker 1: to their condition, the discussion typically revolves around, first of all,

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Speaker 1: is this something that we could even do a genetic

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Speaker 1: test for? Sometimes it isn't. Sometimes you can tell that

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Speaker 1: it's genetic, but that has not been determined to have

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Speaker 1: a genetic cause that we know today. So number one

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Speaker 1: is testing important, And then we talk through Okay, so

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Speaker 1: here are the potential outcomes of a test, which would

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Speaker 1: be a positive or a negative test. Mostly there's some

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Speaker 1: nuances there, and then we talk about the fact that

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Speaker 1: even if you're positive for this condition, for the most part,

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Speaker 1: we don't have a treatment that's going to cure or

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Speaker 1: reverse this condition. However, what we can do with this

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Speaker 1: information is typically preventive. So are there particular screening mechanisms

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Speaker 1: that we can use to help reduce your risk of

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Speaker 1: developing an associated condition with the underlying genetic problem. So,

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Speaker 1: for example, if a patient comes in and it turns

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Speaker 1: out that they are a candidate for BRCA wanted BRCA

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Speaker 1: two testing, and then they're found to have a mutation

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Speaker 1: in one of those genes that predisposes them to the

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Speaker 1: breast and ovarian cancer risk, then we can do breast MRI.

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Speaker 1: Or is the discussion to the point where we would

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Speaker 1: talk about prophylactic mest ectomy, so very much can't stop

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Speaker 1: the fact that this cancer risk exists, but we can

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Speaker 1: help them take action to reduce that risk. Do you

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Speaker 1: find people are pretty responsive at that point? A lot

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Speaker 1: of times the response is knowledge is power in this situation,

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Speaker 1: and knowing this can allow me to take action so

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Speaker 1: I don't end up with the late stage cancer that

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Speaker 1: my aunt or my mom or my sister had. Most

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Speaker 1: of the time, people they understand that there are limitations

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Speaker 1: and this is what we can do, but that's an

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Speaker 1: action that they would like to take. Sometimes we'll test

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Speaker 1: family members who are older and they may have already

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Speaker 1: had breast cancer or the ovarian cancer, but they say,

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Speaker 1: I want my family to know this so they don't

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Speaker 1: have to go through this process, so we can kind

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Speaker 1: of preemptively take action. Are there specific breakthrough kind of

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Speaker 1: areas where the development of DNA understanding is actually curing

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Speaker 1: diseases that we used to not be able to hear.

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Speaker 1: I think the knowledge that we have now regarding DNA

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Speaker 1: and its relationship to disease is that we're able to

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Speaker 1: diagnose better. So what we see often in our clinic

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Speaker 1: are younger patients who have struggled potentially with intellectual disability,

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Speaker 1: developmental delay, various neuromuscular things, autism, and they've never had

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Speaker 1: a cause for their condition, and that at the time

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Speaker 1: they were born, say twenty years ago, the testing just

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00:24:00,880 --> 00:24:03,880
Speaker 1: wasn't there to be able to try, or if they

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Speaker 1: did have genetic testing, it was pretty different than what

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Speaker 1: we have today. And so now when those patients come

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Speaker 1: and see us in their twenties, we can offer a

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Speaker 1: test and provide a cause for their condition in a

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Speaker 1: lot of cases, not all cases. I don't want to

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Speaker 1: say someone comes to genetics and we answer every question.

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Speaker 1: That's not true, but it's a lot more common now

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Speaker 1: and for many families, just knowing what the diagnosis is

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Speaker 1: that they've been dealing with their whole lives offers a

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Speaker 1: huge sense of relief because a lot of times parents

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Speaker 1: will tend to blame themselves for their child's condition. Is

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Speaker 1: it something I did or if I had done this differently,

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Speaker 1: would their outcome have been different? And when we can

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Speaker 1: provide a genetic diagnosis, it helps to kind of relieve

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Speaker 1: them of that guilt, and that is hugely helpful. A

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Speaker 1: lot of times these families have been on what it's

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Speaker 1: called a diagnostic odyssey, and they've undergone many different diagnostic

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Speaker 1: tests and procedures to help erstand what is the cause

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Speaker 1: for their condition. And once we give a genetic diagnosis,

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Speaker 1: we can put an end to that, which is also

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Speaker 1: a huge relief for families because then they don't have

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Speaker 1: to go for that next MRI or the next blood

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Speaker 1: test or a new specialist. Now we have an answer,

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Speaker 1: and even though we maybe don't have a treatment, oftentimes

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Speaker 1: find a network of people who maybe have the same condition,

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Speaker 1: which is a huge help for these families because then

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Speaker 1: you have a social network that can support you in

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Speaker 1: this and help you understand my child has this is

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Speaker 1: similar to what your child has. For a lot of families,

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Speaker 1: a huge relief to know others with a rare disease

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Speaker 1: that they've never known anyone to have, and then they

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Speaker 1: can kind of see how the disease progresses, which can

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Speaker 1: be really helpful. When you look out of the next

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Speaker 1: ten or twenty years. What makes you the most excited

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Speaker 1: about your field? I think what's really exciting is the

438
00:25:52,320 --> 00:25:56,479
Speaker 1: potential to use genetics across more common diseases. So there

439
00:25:56,520 --> 00:25:59,239
Speaker 1: are certain conditions like heart disease, for example, we do

440
00:25:59,320 --> 00:26:04,640
Speaker 1: have clinical risk predictors. Somebody's weighed in age and cholesterol

441
00:26:04,720 --> 00:26:07,840
Speaker 1: and family history can give us a prediction of their

442
00:26:08,040 --> 00:26:12,879
Speaker 1: heart disease risk. There's huge potential to start incorporating genomics

443
00:26:13,000 --> 00:26:17,360
Speaker 1: into that risk calculation to help better identify people who

444
00:26:17,440 --> 00:26:19,760
Speaker 1: might be at risk. This has the potential to more

445
00:26:19,800 --> 00:26:24,639
Speaker 1: specifically identify patients at risk for a lot of different conditions,

446
00:26:24,720 --> 00:26:27,480
Speaker 1: and this is still definitely an area that's in the

447
00:26:27,600 --> 00:26:32,480
Speaker 1: research realm, but there are certain conditions where it could

448
00:26:32,520 --> 00:26:35,160
Speaker 1: start to translate into the clinical setting in the next

449
00:26:35,160 --> 00:26:37,600
Speaker 1: five to ten years, which is really exciting to have

450
00:26:37,760 --> 00:26:39,960
Speaker 1: a new piece of information that we can use to

451
00:26:40,080 --> 00:26:45,119
Speaker 1: help the broader population understand their risk for more common diseases.

452
00:26:45,600 --> 00:26:49,879
Speaker 1: As the cost and accessibility to genetic testing have improved,

453
00:26:50,440 --> 00:26:53,720
Speaker 1: it offers the potential for us to more readily test

454
00:26:53,800 --> 00:26:57,760
Speaker 1: patients for some of the rarer things. There are certain conditions,

455
00:26:57,880 --> 00:27:01,800
Speaker 1: for example, familiar hypercholesterol M a condition where there's a

456
00:27:01,920 --> 00:27:05,920
Speaker 1: significantly increased risk for coronary artery disease due to very

457
00:27:05,960 --> 00:27:09,680
Speaker 1: high levels of cholesterol. A large portion of the people

458
00:27:09,680 --> 00:27:13,360
Speaker 1: who actually have that condition are underdiagnosed. In some estimates,

459
00:27:13,400 --> 00:27:15,399
Speaker 1: as high as ninety percent, but people who have this

460
00:27:15,520 --> 00:27:20,199
Speaker 1: are not diagnosed. Genetic testing for that condition has been expensive,

461
00:27:20,320 --> 00:27:23,360
Speaker 1: and that cost is declining, and so that allows us

462
00:27:23,359 --> 00:27:25,879
Speaker 1: to identify those patients and do a better job caring

463
00:27:25,880 --> 00:27:28,560
Speaker 1: for them, getting them on treatment, and helping to reduce

464
00:27:28,600 --> 00:27:31,520
Speaker 1: that risk. That's a huge impact, And so I think

465
00:27:31,600 --> 00:27:34,439
Speaker 1: the biggest exciting thing for me is the genetics in

466
00:27:34,440 --> 00:27:37,359
Speaker 1: the realm of preventative care. I think there'll be a

467
00:27:37,480 --> 00:27:40,320
Speaker 1: huge change in how we care for patients. They're two

468
00:27:40,640 --> 00:27:44,040
Speaker 1: interestingly big potential patterns that can change a lot over

469
00:27:44,040 --> 00:27:46,439
Speaker 1: the next ten to twenty years. One is as the

470
00:27:46,480 --> 00:27:50,640
Speaker 1: technology gets better and more efficient, that prices keep coming down,

471
00:27:51,359 --> 00:27:54,919
Speaker 1: so you be in too much more routine to gather

472
00:27:55,000 --> 00:27:59,760
Speaker 1: the genetic data. And the other is that it gets

473
00:28:00,040 --> 00:28:04,040
Speaker 1: it into an archival system. The sheer volume of knowledge

474
00:28:04,040 --> 00:28:06,840
Speaker 1: we begin to develop. Do you see those kind of

475
00:28:06,880 --> 00:28:11,760
Speaker 1: things leading to places like Sanford having such a huge

476
00:28:11,800 --> 00:28:16,199
Speaker 1: amount of knowledge that they can simply analyze things so

477
00:28:16,320 --> 00:28:20,080
Speaker 1: much more precisely and so much more rapidly because they

478
00:28:20,119 --> 00:28:23,640
Speaker 1: have such a huge background of information. One thing that

479
00:28:23,680 --> 00:28:27,359
Speaker 1: we talk about is the day where a patient will

480
00:28:27,400 --> 00:28:32,399
Speaker 1: have their genome sequenced one and then you'll return to

481
00:28:32,440 --> 00:28:36,560
Speaker 1: the data at various intervals to reevaluate whether or not

482
00:28:37,119 --> 00:28:41,560
Speaker 1: there's a risk that's identifiable from it. As the costs

483
00:28:41,560 --> 00:28:45,560
Speaker 1: come down, it becomes something that is more readily available

484
00:28:45,640 --> 00:28:50,640
Speaker 1: to all patients. Sometimes you'll hear people talk about sequencing

485
00:28:50,640 --> 00:28:53,800
Speaker 1: patients as newborns and then just having that information available

486
00:28:54,200 --> 00:28:56,680
Speaker 1: so that down the road, if it seems like there's

487
00:28:56,680 --> 00:29:00,400
Speaker 1: something that might merit a better understanding of their genetic data,

488
00:29:00,560 --> 00:29:02,880
Speaker 1: or there's a genetic disease that you can just go

489
00:29:02,920 --> 00:29:06,600
Speaker 1: back and reinterrogate that data to evaluate for whenever health

490
00:29:06,600 --> 00:29:09,640
Speaker 1: concern you me considering, well, I really appreciate you taking

491
00:29:09,640 --> 00:29:13,040
Speaker 1: the time. We appreciate the opportunity. It's always a great

492
00:29:13,200 --> 00:29:15,600
Speaker 1: chance for us to be able to help educate the

493
00:29:15,600 --> 00:29:20,719
Speaker 1: public with regard to genetics and medicine. Next, doctor James

494
00:29:20,760 --> 00:29:25,280
Speaker 1: Hazel talks about the privacy issues with direct consumer DNA

495
00:29:25,400 --> 00:29:46,000
Speaker 1: testing kids. Doctor James Hazel, how did you get involved

496
00:29:46,680 --> 00:29:50,760
Speaker 1: in looking at the whole issue of DNA and ethics.

497
00:29:51,200 --> 00:29:54,920
Speaker 1: I'm a molecular biologist by training. I was a bench scientist,

498
00:29:55,040 --> 00:29:57,640
Speaker 1: but wanted to get more involved on the policy side.

499
00:29:58,240 --> 00:30:02,320
Speaker 1: So during the course of to law school, I was

500
00:30:02,400 --> 00:30:05,040
Speaker 1: fortunate enough to partner with a new center here at

501
00:30:05,080 --> 00:30:09,640
Speaker 1: Vanderbilt Medical Center that studied genetic privacy issues, and one

502
00:30:09,680 --> 00:30:14,240
Speaker 1: of my first projects was to evaluate the privacy policies

503
00:30:14,280 --> 00:30:18,680
Speaker 1: of US based direct to consumer companies. Were you surprised

504
00:30:18,680 --> 00:30:22,320
Speaker 1: by what you initially found? The study was conducted by

505
00:30:22,360 --> 00:30:25,800
Speaker 1: myself and my co author, Chris Lebogan at Vanderbilt Law School.

506
00:30:26,280 --> 00:30:30,080
Speaker 1: We were shocked by the level of variability amongst companies

507
00:30:30,120 --> 00:30:33,800
Speaker 1: in the United States. We looked at ninety companies. The

508
00:30:33,840 --> 00:30:37,120
Speaker 1: industry is obviously quite diverse. This is companies that offer

509
00:30:37,280 --> 00:30:41,560
Speaker 1: anything from health and ancestry testing to companies that offer

510
00:30:42,080 --> 00:30:46,560
Speaker 1: more dubious lifestyle and athletic ability testing. Let's start with

511
00:30:46,680 --> 00:30:51,080
Speaker 1: the basics. How can somebody know what the right kind

512
00:30:51,080 --> 00:30:54,040
Speaker 1: of company is? Well? I think it requires that the

513
00:30:54,080 --> 00:30:57,160
Speaker 1: consumer do a little bit of homework. I would recommend

514
00:30:57,480 --> 00:31:01,720
Speaker 1: that they seek out the larger, more well established companies.

515
00:31:02,000 --> 00:31:03,920
Speaker 1: If it's a company you've never heard of and you

516
00:31:04,040 --> 00:31:06,720
Speaker 1: can't find much about on the internet, it probably is

517
00:31:06,760 --> 00:31:09,320
Speaker 1: a company that you do not want to engage in

518
00:31:09,360 --> 00:31:12,640
Speaker 1: testing with the large companies. In contrast, they've been in

519
00:31:12,680 --> 00:31:15,800
Speaker 1: the public spotlight for years and as a result, their

520
00:31:15,800 --> 00:31:19,440
Speaker 1: privacy policies tend to be more comprehensive and their privacy

521
00:31:19,440 --> 00:31:23,640
Speaker 1: practices more in line with best practices. And is there

522
00:31:23,720 --> 00:31:29,880
Speaker 1: any kind of baseline it's legally required. There's a relatively

523
00:31:29,920 --> 00:31:33,880
Speaker 1: low baseline, and that is the Federal Trade Commission in

524
00:31:33,880 --> 00:31:38,600
Speaker 1: the United States polices all areas of commerce and police

525
00:31:38,680 --> 00:31:43,160
Speaker 1: is unfair and deceptive business practices. So if the practices

526
00:31:43,160 --> 00:31:46,600
Speaker 1: of a company rise to the level of unfair or deceptive,

527
00:31:47,000 --> 00:31:50,520
Speaker 1: the FTC can take action. Other than that, the baseline

528
00:31:50,520 --> 00:31:54,760
Speaker 1: of protection is relatively low. Would you even consider getting

529
00:31:54,760 --> 00:31:59,400
Speaker 1: a direct consumer or would you automatically move towards having

530
00:31:59,440 --> 00:32:03,080
Speaker 1: a doctor as an intermediary. I think that's going to

531
00:32:03,240 --> 00:32:05,440
Speaker 1: depend on the individual and what they hope to get

532
00:32:05,440 --> 00:32:08,840
Speaker 1: out of the testing. Many individuals just approach this from

533
00:32:08,880 --> 00:32:11,400
Speaker 1: pure curiosity and are looking to find out more about

534
00:32:11,440 --> 00:32:16,960
Speaker 1: their ancestry or lifestyle traits. However, if the individuals interested

535
00:32:17,040 --> 00:32:21,120
Speaker 1: in more health related information or information that they expect

536
00:32:21,120 --> 00:32:24,840
Speaker 1: they will use to guide their clinical care, obviously that

537
00:32:24,920 --> 00:32:29,320
Speaker 1: should probably be conducted within the healthcare setting. As far

538
00:32:29,360 --> 00:32:32,320
Speaker 1: as what I would tell individuals, I would tell consumers

539
00:32:32,360 --> 00:32:35,760
Speaker 1: to make sure that they have read and understand the

540
00:32:35,800 --> 00:32:39,040
Speaker 1: privacy policy, So they should ask themselves, do I understand

541
00:32:39,040 --> 00:32:40,720
Speaker 1: how my data is going to be used by the

542
00:32:40,760 --> 00:32:43,360
Speaker 1: company once I surrender it to them? And do I

543
00:32:43,440 --> 00:32:47,520
Speaker 1: understand what third parties it is going to be shared with?

544
00:32:48,040 --> 00:32:51,040
Speaker 1: And as a further note, consumers should also be on

545
00:32:51,080 --> 00:32:53,960
Speaker 1: the lookout for what choices they have in the process. So,

546
00:32:54,240 --> 00:32:57,120
Speaker 1: for example, do they have the choice to opt in

547
00:32:57,280 --> 00:33:00,320
Speaker 1: or opt out of research sharing of their data? Do

548
00:33:00,400 --> 00:33:04,120
Speaker 1: they have the opportunity to opt out of family finder

549
00:33:04,200 --> 00:33:08,400
Speaker 1: services that allow the consumer to locate potential genetic relatives

550
00:33:08,400 --> 00:33:11,720
Speaker 1: based on the test, those sort of things. I'm guessing

551
00:33:12,920 --> 00:33:16,480
Speaker 1: that with that kind of test you could sometimes have

552
00:33:16,520 --> 00:33:20,440
Speaker 1: a pretty rude shock. Yes, people might discover things about

553
00:33:20,480 --> 00:33:23,840
Speaker 1: their health that could cause them some anxiety and that

554
00:33:23,880 --> 00:33:26,920
Speaker 1: they have little control over. Another big thing that we're

555
00:33:26,920 --> 00:33:30,440
Speaker 1: seeing is individuals are finding out things about their family

556
00:33:30,520 --> 00:33:35,000
Speaker 1: relationships that could be disruptive. So, for example, they might

557
00:33:35,080 --> 00:33:36,880
Speaker 1: find out that they have a sibling who is not

558
00:33:37,040 --> 00:33:40,720
Speaker 1: genetically related to them they share a different father, for example,

559
00:33:41,160 --> 00:33:44,760
Speaker 1: Or they might locate relatives that they did not know

560
00:33:44,840 --> 00:33:47,880
Speaker 1: that they had and could be put into contact with them.

561
00:33:48,360 --> 00:33:51,480
Speaker 1: I will say that there are companies offering tests for

562
00:33:51,640 --> 00:33:56,880
Speaker 1: predisposition to diseases such as Alzheimer's, Parkinson's, that sort of thing.

563
00:33:57,760 --> 00:34:01,520
Speaker 1: I would recommend that people see out confirmatory testing in

564
00:34:01,560 --> 00:34:06,360
Speaker 1: the healthcare setting and not overly rely on the results

565
00:34:06,400 --> 00:34:09,319
Speaker 1: from direct to consumer companies. If I go and I

566
00:34:09,480 --> 00:34:13,279
Speaker 1: buy this kind of a test, what actually happens to it?

567
00:34:13,640 --> 00:34:17,399
Speaker 1: Do they go to a reliable lab, or do they

568
00:34:17,400 --> 00:34:20,880
Speaker 1: send it overseas to something does inexpensive but unreliable, or

569
00:34:21,480 --> 00:34:24,440
Speaker 1: how do I know what they're doing with my DNA.

570
00:34:24,640 --> 00:34:27,799
Speaker 1: That's a good point, and it varies widely depending on

571
00:34:27,840 --> 00:34:31,799
Speaker 1: the company that you use. Some of that information will

572
00:34:31,840 --> 00:34:34,920
Speaker 1: be available on the company's website or in their policies,

573
00:34:34,960 --> 00:34:37,319
Speaker 1: but it does require that people read that. So to

574
00:34:37,360 --> 00:34:39,680
Speaker 1: answer your question, where does it go? The larger, more

575
00:34:39,800 --> 00:34:44,360
Speaker 1: established companies do use labs that are certified under CLEA,

576
00:34:44,520 --> 00:34:47,880
Speaker 1: and as such they're subject to regulations that are designed

577
00:34:47,880 --> 00:34:52,160
Speaker 1: to ensure that the tests are accurate and reliable. However,

578
00:34:52,239 --> 00:34:54,920
Speaker 1: the majority of the industry, I would say, does not

579
00:34:55,239 --> 00:35:00,160
Speaker 1: utilize clear certified labs presently, and so consumers should try

580
00:35:00,160 --> 00:35:03,160
Speaker 1: and figure out either on the company's website or in

581
00:35:03,200 --> 00:35:07,360
Speaker 1: their policies. Whether they are using a clear certified lab.

582
00:35:07,680 --> 00:35:10,680
Speaker 1: Many will state whether they are or not, is my

583
00:35:10,800 --> 00:35:15,040
Speaker 1: DNA information come under HIPPA as it's supposed to be protected. Generally,

584
00:35:15,120 --> 00:35:18,399
Speaker 1: with direct to consumer genetic testing, the information that you

585
00:35:19,239 --> 00:35:22,640
Speaker 1: generate will not be subject to HIPPA in most, if

586
00:35:22,680 --> 00:35:25,759
Speaker 1: not all cases, So they could technically share and they

587
00:35:25,800 --> 00:35:28,920
Speaker 1: wouldn't be breaking the law. It depends on the privacy

588
00:35:28,960 --> 00:35:31,520
Speaker 1: policy that is in place with that company. So if

589
00:35:31,560 --> 00:35:35,080
Speaker 1: they were engaging and sharing that was above and beyond

590
00:35:35,600 --> 00:35:38,560
Speaker 1: what was described in their policies, it is possible that

591
00:35:38,560 --> 00:35:40,960
Speaker 1: that would rise to the level of unfair and deceptive

592
00:35:41,280 --> 00:35:43,560
Speaker 1: and be a cause of action for the FTC to

593
00:35:43,880 --> 00:35:47,200
Speaker 1: come in and investigate. That would require somebody to complain

594
00:35:47,239 --> 00:35:51,000
Speaker 1: to the FTC right right, That would require the FTC

595
00:35:51,200 --> 00:35:54,040
Speaker 1: getting word of the practice that was at odds with

596
00:35:54,239 --> 00:35:57,680
Speaker 1: what was in the policy. To what extent do we

597
00:35:57,760 --> 00:36:02,120
Speaker 1: need to have much more sophisticated and government regulation of

598
00:36:02,160 --> 00:36:06,960
Speaker 1: this whole DNA business. Well, I think that's an ongoing debate,

599
00:36:07,200 --> 00:36:09,759
Speaker 1: with people coming down on both sides of that. There

600
00:36:09,760 --> 00:36:14,279
Speaker 1: are obviously benefits to having a free flow of genetic information,

601
00:36:14,600 --> 00:36:18,720
Speaker 1: benefits to research, consumers are empowered to make decisions about

602
00:36:18,760 --> 00:36:23,640
Speaker 1: their health and to learn things about their ancestry. On

603
00:36:23,680 --> 00:36:26,560
Speaker 1: the other side of the spectrum, others argue that currently

604
00:36:27,000 --> 00:36:31,840
Speaker 1: there's not enough oversight of particularly these health related tests,

605
00:36:31,920 --> 00:36:35,680
Speaker 1: and that could lead to consumer confusion. Some companies may

606
00:36:35,719 --> 00:36:41,080
Speaker 1: offer test results that are inaccurate or misleading, and that

607
00:36:41,600 --> 00:36:45,320
Speaker 1: under the current regime there's nothing to ensure that consumers

608
00:36:45,320 --> 00:36:48,640
Speaker 1: are actually making an informed decision to undergo the testing

609
00:36:48,680 --> 00:36:52,600
Speaker 1: and fully understanding its implications. Once your DNA is out

610
00:36:52,600 --> 00:36:55,400
Speaker 1: there and linked to your name, to what extent is

611
00:36:55,400 --> 00:36:58,160
Speaker 1: it then vulnerable to being used by others and how

612
00:36:58,200 --> 00:37:00,719
Speaker 1: could they use it? Some of the big concerns that

613
00:37:00,800 --> 00:37:04,880
Speaker 1: we hear are fears about discrimination based on that information

614
00:37:05,239 --> 00:37:09,440
Speaker 1: by either employers or health insurance companies. So it's important

615
00:37:09,480 --> 00:37:12,279
Speaker 1: to remember with director consumer genetic testing, it's often not

616
00:37:12,400 --> 00:37:15,520
Speaker 1: just genetic data that the company has. They often have

617
00:37:15,920 --> 00:37:20,520
Speaker 1: your personal information. People fill out surveys about their health conditions,

618
00:37:20,560 --> 00:37:24,279
Speaker 1: the health conditions of their families, the lifestyle choices they make,

619
00:37:24,600 --> 00:37:27,880
Speaker 1: and so really when all that data is pooled, it

620
00:37:27,920 --> 00:37:31,160
Speaker 1: could be a potential gold mine for entities that might

621
00:37:31,200 --> 00:37:34,680
Speaker 1: wish to exploit that information against the interests of the individual.

622
00:37:34,960 --> 00:37:37,600
Speaker 1: This is really really helpful. I'm very grateful and I

623
00:37:37,600 --> 00:37:41,520
Speaker 1: think people will find your information very useful. Thanks for

624
00:37:41,560 --> 00:37:50,320
Speaker 1: having me. Thank you to my guests Megan Bell, doctor

625
00:37:50,400 --> 00:37:53,799
Speaker 1: Katherine Hike, and doctor James Hazel. You can read more

626
00:37:53,840 --> 00:37:58,320
Speaker 1: about genetic testing and your personalized healthcare on our show

627
00:37:58,320 --> 00:38:02,960
Speaker 1: page a news World. Newts World is produced by Westwood One.

628
00:38:03,400 --> 00:38:07,279
Speaker 1: Our executive producer is Debbie Myers and our producer is

629
00:38:07,360 --> 00:38:11,840
Speaker 1: Garnsey Slump. Our editor is Robert Boroski, and our researcher

630
00:38:11,920 --> 00:38:15,920
Speaker 1: is Rachel Peterson. Our guest booker is Grace Davis. The

631
00:38:16,080 --> 00:38:19,120
Speaker 1: artwork for the show was created by Steve Penley. The

632
00:38:19,280 --> 00:38:23,200
Speaker 1: music was composed by Joey Salvia. Special thanks to the

633
00:38:23,200 --> 00:38:27,360
Speaker 1: team at Gingwish three sixty and Westwood Ones, John Wardock

634
00:38:27,480 --> 00:38:31,320
Speaker 1: and Robert Mathers. Please email me with your comments at

635
00:38:31,080 --> 00:38:35,000
Speaker 1: new at newtsworld dot com. If you've been enjoying newts World,

636
00:38:35,239 --> 00:38:38,319
Speaker 1: I hope you'll go to Apple Podcasts and both rate

637
00:38:38,400 --> 00:38:41,480
Speaker 1: us with five stars and give us a review so

638
00:38:41,640 --> 00:38:50,920
Speaker 1: others can learn what it's all about. It on the

639
00:38:50,960 --> 00:38:55,919
Speaker 1: next episode of Newtswork. We just celebrated the fiftieth anniversary

640
00:38:55,920 --> 00:38:59,239
Speaker 1: of the Apollo eleven landing on the Moon. Now we're

641
00:38:59,239 --> 00:39:02,000
Speaker 1: looking ahead to the future of space travel, to the

642
00:39:02,040 --> 00:39:06,400
Speaker 1: Moon and Mars and beyond. I think you'll be astonished

643
00:39:06,719 --> 00:39:09,480
Speaker 1: by how close we are to achieving the next major

644
00:39:09,520 --> 00:39:14,280
Speaker 1: milestone in space. I'm Newt Gingrich. This is Newt's World,

645
00:39:22,800 --> 00:39:25,160
Speaker 1: the Westwood One podcast Network