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  • From the moment we're conceived,

  • our genes encode in us,

  • every instruction our bodies will ever need.

  • These genes built our organs, our muscle, our brains.

  • They help us grow and keep us healthy.

  • But the tiniest deviations also make us sick.

  • Many of us are carrying these deviations

  • without ever knowing it.

  • And this women wants to find those problems early.

  • Before it becomes to late.

  • My name is Carrie Blout,

  • and I'm a preventive genetic counselor.

  • We are here to celebrate the completion

  • of the first survey of the entire human genome.

  • With this profound new knowledge,

  • human kind is on the verge of gaining

  • immense new power to heal.

  • In the early 2000s, scientists decoded

  • the first human genome.

  • Sense then, we've discovered the genetic footprint of

  • thousands of illnesses.

  • And if you have a health problem,

  • or come for a family with health problems,

  • your doctor might have ordered a DNA test.

  • To diagnose and treat you.

  • But it's only very recently that hospitals

  • have started screening the genomes

  • of seemingly healthy people.

  • Healthy people like me.

  • The goal of these screenings,

  • is the holy grail of modern medicine.

  • To map each persons risk of disease.

  • In order to treat conditions early,

  • or prevent them from ever developing.

  • Today, I'm heading to Boston to get my own DNA screened.

  • In our studies, we're finding that there's

  • 10 to 15 percent of people,

  • walking around that we would expect,

  • to either have either symptoms of a condition now,

  • or to develop it in the future.

  • Carrie has a masters degree

  • in genetic counseling.

  • Four years ago, she joined a research program

  • affiliated with Brigham and Women's Hospital,

  • and Harvard Medical School.

  • The program has been screening

  • the genomes of healthy people.

  • And through her research, Carrie's helped

  • more than a 100 patients makes sense of their results.

  • Sometimes I'm telling them really scary stuff.

  • That they just weren't anticipating.

  • One example is a women who

  • had a variant for breast cancer.

  • She had no idea she was at risk.

  • She got screening for that.

  • And actually found out she had early breast cancer.

  • Which she wouldn't of been found to have,

  • that early anyway,

  • if we had not initiated things.

  • Early findings like this

  • prompted Brigham to quietly open

  • the Preventive Genomics Clinic in November last year.

  • So why does she want to be tested?

  • Really what's her motivation here?

  • It's led by geneticist Dr. Robert Green.

  • And Carrie has seen it's first few patients.

  • It's one of the worlds only clinics

  • offering DNA testing for preventative purposes.

  • I'm here to become it's seventh ever patient.

  • Hi Aki.

  • Nice to meet you.

  • Nice to meet you.

  • Before we get started, can you tell me

  • a little bit about what drew you to this clinic.

  • And why you're interested in preventive genomics.

  • I thought about it a lot and

  • if there's something that I can prevent,

  • then I think I'd rather know now.

  • Okay.

  • So I'm a little worried I'm opening a Pandora's box.

  • Okay.

  • But I'm excited to do this.

  • Carrie is trained to guide patients

  • through the complicated world of DNA testing.

  • And that starts with helping patients choose the rite tests.

  • You might have even tried one of them you can take at home.

  • Like 23 and Me.

  • But 23 and Me looks at less then one percent of your genome.

  • To identify your risk of developing just 13 conditions.

  • The workup I'm getting, will sequence

  • virtually my entire genome.

  • Placing a special focus on about 3700 genes,

  • that are associated with more than 2500 conditions.

  • Which means if I go through with this test,

  • I could find our a whole lot more.

  • How would you feel if you found out

  • that you were at risk for something

  • that we didn't currently have a treatment for.

  • That you might develop later in life.

  • Even if I knew now that I'd only live till 40,

  • I think I'd want to know that.

  • So I can plan my life around that.

  • I'd want to make sure that

  • my wife would be okay after I died.

  • And I think I'd still wanna know.

  • Right.

  • And you're exactly the type of patient

  • that we want to see in this clinic.

  • Some people really just don't wanna know.

  • And some people are really information seekers.

  • And want all the information they could get.

  • So this is a good test for you.

  • Open your mouth wide, say ahhh.

  • I'm just gonna check your reflexes.

  • And after Dr. Green checked in,

  • Take a seat here.

  • I got my blood drawn.

  • For all this, by bill today will be just over $4000.

  • Which includes this hospital visit,

  • as well as the cost to sequence my DNA and analyze it.

  • It's a lot.

  • Sense most of it isn't covered by insurance.

  • But take a look at how much the cost

  • of sequencing has come down over the last two decades.

  • This is why genetic testing has become so widely available.

  • And why the professionals who help patients make sense

  • of them are now in such high demand.

  • Salaries have soared.

  • With genetic counselors earning a median $80,000 last year.

  • That's more than twice the median pay, in the US.

  • Great, you're all done.

  • Your results will take about two to three

  • months to get back.

  • So we'll give you a call and set up

  • that follow up appointment for when they're ready.

  • And while I've settled back

  • into my life in San Francisco,

  • machines extracted the DNA from the nuclei of my cells.

  • Then more machines read the six billion base pairs

  • that make up that DNA.

  • Which geneticists then analyze for clues of diseases.

  • Then two months later..

  • [ Carrie On Phone] Hi, this is Carrie Blout calling,

  • your genome report should be back soon.

  • So I wanted to schedule an appointment

  • to see your for results.

  • If you could give me a call back when you have a chance.

  • Thank you.

  • And I made my way back to Boston.

  • When I'm returning results to patients,

  • there's not always a treatment or a cure

  • for something that we find.

  • And those conversations are very difficult.

  • Because we're telling them something that

  • could affect their life.

  • And I think the most difficult part

  • is when someone is really stressed,

  • and I can't make it better.

  • It could be very hard.

  • But you're also helping them.

  • And that over powers any of the challenges of the job.

  • Hi Aki, how are you?

  • Good to see you again.

  • Good to see you too.

  • Lets go to my office.

  • Sure.

  • I want to reassure you.

  • We didn't find anything that's scary.

  • What a relief.

  • Lets got through what we did find.

  • So the top report called Monogenic Disease Findings,

  • that would be if we found something in your rite now,

  • that we thought might impact your health.

  • Either now or in the near term future.

  • Basically we didn't find anything in that category.

  • What we did find in you,

  • is that you have three carrier variants.

  • This is the type of variant

  • that when you go to have children,

  • if the sperm had the same variant in it, as your egg did,

  • the child could have it.

  • I see.

  • One of the things that you're a carrier for

  • is Xeroderma of Pigmentosa.

  • It is a photo sensitivity condition.

  • So you're very sensitive to sun.

  • Even in mild sunlight,

  • you could get blistering or burning in the sun.

  • But for this gene, it's actually one in 4000.

  • So one in 4000 is the chance that

  • my child would have this disease.

  • Exactly.

  • So, pretty rare.

  • I was really nervous coming into this meeting today.

  • But what do you think I should tell my wife?

  • I think you can tell her that it was good.

  • That you had a boring genome.

  • Which is the kind that I like to see.

  • Before this goes mainstream,

  • Carrie and her colleagues still have much to prove.

  • Will the price of these tests be worth the lives they save?

  • Will certain results make patients anxious?

  • Will they lead to unnecessary procedures?

  • But with enough research,

  • this technology could become standard for all of us.

  • Maybe one day we'll all get sequenced.

  • Maybe even at birth.

  • And have that information to inform

  • our healthcare over time.

  • Then we'll have a lot more

  • genetic counselors like Carrie.

  • Helping us prevent what we can.

  • And plan for what we can't.

  • They'll guide us from one milestone, to the next.

  • Through childhood...

  • Aki Ito.

  • Adolescence.

  • And adulthood.

  • All the way to old age.

From the moment we're conceived,

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    林宜悉 に公開 2021 年 01 月 14 日
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