November 26, 2018 • 23 mins
Eighteen years ago, scientists decoded the human genome. But what was supposed to create an era of new cures didn't work out that way, at least not at first. In episode four of Prognosis, some of the most famous names in genetics explain why it took so long to go from mapping life's code to actually helping people, laying the foundations for technologies on the scientific and ethical cutting edge, like modifying people's genes.
See omnystudio.com/listener for privacy information.
Mark as Played
Transcript
Episode Transcript
Available transcripts are automatically generated. Complete accuracy is not guaranteed.
Speaker 1 (00:14):
We're here to celebrate the completion of the first survey
of the entire human genome. Without a doubt, this is
the most important, most wondrous map ever produced by human kind.
The moment we are here to witness was brought about
brilliant and painstaking work of scientists all over the world,
including It was June two thousand. President Bill Clinton was
(00:38):
in the crowded White House East Room announcing a momentous achievement.
Government scientist had decoded nearly all three billion letters of
the human genetic blueprint. The excitement and the hype was intense.
President Clinton painted a tantalizing picture of the opening of
a new scientific frontier. With this profound new knowledge, human
kind is on the verge of gaining immense new power
(01:01):
to heal. Genome science will have a real impact on
all our lives, and even more on the lives of
our children. It will revolutionize the diagnosis, prevention, and treatment
of most, if not all, human diseases. In coming years,
doctors increasingly will be able to cure diseases like Alzheimer's, Parkinson's, diabetes,
(01:23):
and cancer by attacking their genetic roots. It didn't work
out that way at least not exactly. Welcome to Prognosis.
I'm your host, Michelle fay Cortes. This week, we're going
to tell you what happened after the press conference and
(01:44):
how one of the greatest undertakings in medical history, the
decoding of the human genome, was just the start of
an exhilarating, frustrating journey that's still far from over. Here's
Bloomberg's Bob Langrath with the story. Sitting next to Clinton
(02:13):
at the White House was Francis Collins. Cons is a geneticist,
and he led the international team that worked on the
genome project. Now he runs the National Institutes of Health.
I was both excited about the way in which the
world was going to find out that we had a
draft of the human genome sequence, the instruction book for
human biology. But I had also just spoken at the
(02:33):
funeral of my sister in law two days before, who
died from cancer and for whom this particular advance hadn't
come along soon enough. So I sort of put the
whole thing into focus of what we had and how
far we still needed to go for this to actually
benefit people who are waiting for answers. Actually the genome
(02:55):
wasn't done. There was only a first draft. The unveiling
was pushed out quickly, in part because the government was
raising a private group at the press conference, the teams
that only fully scanned about the genome. It would be
three years before the final version was published, and even
with the map, finding the causes of diseases in the
genetic code was elusive. Instead of a few key genes
(03:18):
driving common ailments like heart disease or diabetes, scientists found dozens,
if not hundreds. Human common disease is really complicated, more
complicated than we thought it was going to be less
than a decade ago. Despite the flood of new genome data,
there was a sense that drugs were getting harder to discover.
(03:40):
A two thousand and ten New York Times article called
the goal of finding the genetic roots of disease elusive.
It said that, quote geneticists are almost back to square
one and knowing where to look for the roots of
common disease unquote, but behind the scenes, something important was happening.
It took thirteen years and costs three billion dollars to
(04:02):
decode the first genome, and fo million dollars of that
went just to the sequencing itself. According to Dr Collins,
the sequencing machines that did most of the work for
sequencing that first human genome or the size of phone booths,
and it took a warehouse full of them to have
the kind of throughtput you needed to achieve this. DNA
(04:23):
sequencing needed to get faster, cheaper, and smaller. It needed
a revolution. If you look over the history of science,
the thing that has been profoundly game changing in a
scientific area is major technical innovations. You know, whether it
was inventing the telescope, what it did to astronomy, inventing
(04:45):
a microscope, what it did for microbiology and cell biology,
and look at that first cat scan, what it did
for radiology. That's Eric Greene, who is now director of
the National Human Genome Research Institute. He was an early
genome research or at the ni H. I think we
recognize that the technologies that were used for sequence in
(05:06):
that first human genome were good enough, but we needed
something far better. The trick was to take billions of
letters in a person's DNA and process them all at
the same time, like a computer circuit with billions of
transistors all firing at once. As newer and faster machines
were introduced, costs sank rapidly. In two thousand and five,
(05:26):
the cost of scanning a human genome ran to about
ten million dollars. By two fifteen, raw scanning costs plummeted
to below dollars. And in two thousand three, did I
believe it was going to happen this quickly? Absolutely not.
I'm sure any of us would have gotten it wrong,
probably by toothfold. We probably would have said it would
have taken, you know, thirty years to get down to
(05:46):
a thousand dollar human genome sequence. Room fulls of machines
were no longer needed. Dr Collins says, now on the
sequencing machines sit on the desktop, or in the most
dramatic example, they're about the size of a cell phone
that attaches directly to your laptop. That's when DNA sequencing
(06:10):
went from being a research tool and became medicine. In
two thousand and nine, doctors in Wisconsin were treating four
year old Nicholas Voker for a mysterious disease that produced
holes and his intestine. In desperation, his doctor's convinced genesis
at the Medical College of Wisconsin to sequence all his genes.
Here's next doctor reaching out to the geneticist with an
(06:33):
unprecedented request. Dear Howard, I hope you are well. I'm
writing to get your thoughts on a patient of mine
that might benefit from a high throughput sequencing of his genome.
This is a unique situation. This patients is very ill
and has been in the hospital since January. It worked.
(06:54):
They found an unexpected mutation and it pointed to a treatment,
a bone marrow transplant. The case exploded into the headlines
with the Milwaukee, Wisconsin Journal Sentinel wrote a Pulitzer Prize
winning series about the success. Around the same time, researcher
Stephen Kingsmore helped perform a highly detailed genome of a
Korean person. The medical potential was becoming clearer. We kind
(07:18):
of as a team had a Eureka moment when we said,
ah ha, there's a huge amount of information in here
that's of practical usefulness to people, and this really changed
the trajectory of my career. Maybe want to go from
a basic research institute back into a hospital environment where
we could start to apply this and understand what it
(07:39):
might mean for the future of medicine. By two thousan twelve,
Dr Kingsmore was testing out a new ultra fast sequencing
machine on sick babies. We started to use it in
our neonatal intensive care unit, where decisions had to be
made within minutes or ours. There was no time to
lose in making it diagnosis, and so we published a
(08:03):
paper in October twelve saying that we could decode a
baby's genome in forty eight hours and return those results
back to the ne anatologists and showed that it would
change the management. That was truly a breakthrough. Dr Kingsmore
is now at the forefront of using genome testing to
diagnose and treat infants with unknown genetic diseases at the
(08:26):
RADI Children's Institute for Genomic Medicine in San Diego. It
turns out to be an ideal application for genome sequencing.
Tens of thousands of babies are born each year with
unknown genetic diseases. There are ten thousand genetic diseases, and
no physician on planet Earth has ever seen them all,
so picking which of those to test for is incredibly difficult.
(08:48):
The second thing is that in newborns, the genetic diseases
really don't look like their textbook description. When you put
those two reasons together, it means that without the ability
to just survey the entire genome and examine all ten
thows and genetic diseases at once, the likelihood of a
physician making the correct diagnosis is almost zero. His lab
(09:14):
has three of the top of the line geno i'm
scanning machines from a company called a Lumina. The machines
are roughly the size of a washing machine. In urgent situations,
his team can decode a baby genome in about two days.
We receive blood samples and medical records from about fifteen
children's hospitals all around North America, and so they will
(09:38):
contact us and let us know that they have a
kid who they believe they might need a genome sequence on,
and the following morning the sample will arrive. Will then
put that into our batch for the day, and our
goal is to deliver a diagnostic result as quickly as
as humanly possible back to that physician, with a goal
(10:01):
obviously of giving treatment guidance that will either save a
child's life or prevent complications of that disease. In three
years at Rady, Dr Kingsmore's team is the code of
the genomes of hundreds of sick babies, and it is
making a difference. So one and two or one in three,
we will make a diagnosis. A figure that's completely consistent
(10:24):
is that of those diagnoses will resultant changes in how
the baby is managed in the intensive care unit. And
then about one and four has a change in outcome.
Sometimes it has life saving There are some extraordinary saves.
There are some children who undoubtedly would die, and we
(10:45):
make a phone call with a diagnosis. There's a treatment
that's given promptly, and the child does well, faster, cheaper.
DNA toton was beginning to revolutionize medical care by two
Then in two two things happened, one in Washington and
(11:09):
the other in Hollywood. The Supreme Court said that jeans
couldn't be someone's intellectual property, and one of the world's
biggest movie stars made a start medical choice based on
her DNA. A few years ago, a blood test revealed
that Angeline had carried a mutation of the b r
c A one gene, giving her an estimated eighty seven
(11:31):
percent risk of breast cancer of fifty risk of ovarian cancer.
So in she had both brushed removed and underwent reconstructive surgery,
emerging as a beacon of hope for women when she
told the world, I feel wonderful. I'm very, very grateful.
(11:56):
Ellen Mattlof at the time was a cancer genetic counselor
at Yeah University. She helped patients and their families understand
their risk, what are the correct tests, and interpret complex
DNA results. When I was the director of the cancer
Genetic Counseling program at Yale, I saw several things shifting,
and they were seismic shifts. First, Angelina Jolie came out
(12:20):
with her New York Times editorial that she was a
b r C A one carrier, and overnight our referrals
increased by fort and they never returned to baseline. There
was a huge change. Then a few weeks later, the
Supreme Court issued its ruling that meant companies, including the
(12:40):
one that had a monopoly in the test Angelina Jolie used,
couldn't own the patents on Jeanes Here's Dr Collins again.
It was a wonderful day, indeed, when the Supreme Court,
in a nine to nothing decision, came out with their
conclusion that gene patenting ought not to be a ouabol
that it didn't fit with the original goals of the
(13:02):
patent system, and I think that has opened up diagnostics
in a much broader way, which has been a very
good thing for the whole field and has accelerated the
possibilities of many of us having that kind of information
now or in the future. For years, one company had
the patent on b r C A one and b
r C A two, the most common causes of hereditary
(13:25):
breast cancer. That meant that hospitals and companies not holding
the patent couldn't combine them into broader tests. Gene patenting
was a serious threat on the view of many of
us to progress in this field, and yet it continued
for quite a few years after that. At the time
(13:46):
of the Supreme Court ruling, BRCA testing costs as much
as four thousand dollars. Within days of the decision, new
companies that have been barred from the market started offering
their own tests. Cost plummeted. Ellen matt Loff, who now
runs a startup called My Gene Council, was a plaint
different the Supreme Court case. She saw the impact on
patients firsthand. And today we have some testing companies that
(14:10):
have offered b r C A one and two testing
from time to time for a hundred or two hundred dollars,
so it's changed dramatically. Of course, cost isn't the only
problem that geneticists were grappling with, and the easy diagnoses
and freely flowing data envisioned years ago haven't quite come
to pass. I can remember fifteen years ago when the
(14:31):
genome was sequenced that everyone was saying that first of all,
you would carry around your genome like a flash drive
and it would be a piece of cake. You just
bring it to your doctor's office, plug it in, and
that every doctor would be so educated on genomics that
they would be able to interpret it. None of that
has been as simple as it sounded. But where the
(14:53):
failure has come is helping consumers and healthcare providers under
stand and use the data. Also, as genetic tests become
more common, the risk of misinterpretation by doctors untrained in
the complex world of genetics is growing. This is especially
true in the high stakes area of cancer. We're ordering
(15:14):
the wrong tests or misinterpreting the result can lead to
a fatal illness or unnecessary surgery. It's a problem that
some say is getting worse, we're finding that genetic test
results are being misinterpreted more often now than ever before,
and the reason for that is that fewer patients are
seeing certified genetic counselors to order their tests and to
(15:37):
interpret them after. And also the tests have grown in complexity,
so it's easier to misinterpret them now. In terms of drugs,
Dr Collins says cancer is one area that seen a
direct impact from the Genome project. Cancer is fundamentally genetic disease,
(16:00):
and understanding gene abnormalities and patient tumors has led to
powerful new treatments for leukemia, certain types of lung cancer,
and breast cancer. If you want to take an area
we're having access to genome sequence has been revolutionary, it's cancer.
If I had cancer today, or if anybody I know
had cancer today, I would want their tumor to undergo
(16:21):
a complete DNA sequencing in order to identify what mutations
have happened in that cancer to cause those good cells
to go bad. Increasingly, cancer centers are scanning patients DNA
to match them to the treatment most likely to work
for them, and biotech companies are working on developing a
liquid biopsy that which detect signs of cancer in the blood.
(16:42):
So far this year, there have been about a dozen
new cancer drugs approved by the FDA, and so the
list of targeted drug treatments for cancer is growing almost daily. Nevertheless,
many tumors have turned out to have a complicated array
of mutations and we don't always know how to arget them.
But there may be another reason why there aren't more
(17:03):
gene based drugs. Louise am All, who studies complex systems
at Northwestern University That's found that risk averse researchers have
been concentrating most of their attention on genes that have
been known for years. They are ignoring unknown genes, some
of which could lead to medical breakthroughs. One of the
numbers that I think is important is this idea that
five of the genes are accounting for about fifty of
(17:28):
the publications. Very little attention is really being given to
a very large fraction of the of the genes. In fact,
in the five years between twous and eleven and two fifteen,
Dr Amroll and as research partner Thomas Stutgart found only
a handful of new genes broke out from obscurity to
become objects of intensive scientific research. Everybody is becoming more
(17:51):
and more conservative, which means that the way in which
we are exploring the known is less and less efficient.
But if we keep having at attitudes we are never
I mean, it's going to be you know, a new
gene understood per per year, and at that rate it
would only take about another fifteen thousand years to understand
(18:13):
every single gene in the human geno. One method that
has proven useful for finding new drugs has been looking
for people with certain genetic abnormalities, but instead of hurting them,
their mutations help and a robust constructor in Texas with
super low cholesterol had a rare mutation in a gene
called PCSK nine. That discovery has led to two powerful
(18:36):
new cholesterol lowering medications into US and fifteen here's Dr
Collins again finding individuals who are rare examples where they're
protected against disease. You could call them superhumans. Um is
very much part of what anybody who thinks about genetics
would hope to find, and that's what we found with
PCSK nine. It's one of those really amazing success stories
(18:57):
of the last decade. To help find more vision treatments,
the NAH set up a giant new research program that
will track the health information of one million American residents,
eventually sequencing the genomes of all of them. That all
of us project will cost one point five billion over
ten years. If we really want to understand how effectively
(19:17):
to apply precision medicine to the average person in this country,
we need a very large pilot study to find out
how that works. This will be the largest, most powerful
research database ever contemplated in this country, and it will
teach us whether such things as knowing your genome sequence
is going to make you healthier. So what's next? George Church,
(19:44):
the genetics professor at Harvard Medical School, thinks the state
of DNA testing and scanning it's like the Internet in
the early nineties. So I was using computer network type
of things around, which is about the time that the
Internet started, and it was pretty sleepy until around when
(20:04):
suddenly everybody saw that there was a web browser, and
then within a year there was millions of web pages.
From almost a standstill, we have all the infrastructure in
place to sequence millions of human genos possibly billions, with
a little effort, but people are not aware of it.
They don't realize that the killer apps are already some
of them are already there. In October, the Food and
(20:27):
Drug Administration approved the first direct to consumer tests to
spot genetic variations and how people's bodies interact with different medicines,
but warned that people shouldn't use it to make medical
decisions by themselves. But while most people don't need it,
the potential for greater use of genetic testing is enormous.
Here's Dr Collins again. We now know that probably two
or three percent of us are walking around with significant
(20:52):
DNA mistakes that would be actionable right now if we
knew about it that we have one of those misspelled
things that places us at risk maybe for heart disease
or cancer, or some clotting problem or some neurologic difficulty.
Two or three percent, well goodness six If they're three
million people just in this country, we're talking about somewhere
(21:15):
between six to nine million people right now that if
they had that information, their medical care would change for
their benefit. George Church thinks that genome scanning could directly
help at least one percent of people and more are
walking around with genetic variants and might put their children
at risk. But that would be my guess is ten
years from now, we could have everybody who has any
(21:38):
reasonable health care plan, maybe a billion people sequenced, and
then five of those that are at risk for having
children that have a severe genet disease will avoid that.
The key, he says, is getting people to do it.
I think it's analogous to seat belts, where the seat
belts were free, but people still didn't use them and
(21:59):
you had to had to have some public health strategy.
We've come a long way. Francis Collins's career shows how
much the technology has advanced. When he and other scientists
were trying to find the gene for cystic fibrosis in
the nineteen eighties, it was agonizingly slow going. It was
horrendously difficult. There was no genome project. There was very
(22:21):
little knowledge about anything about the DNA of the human
except little tiny islands that people had worked on. It
took years, but now, thanks to their groundwork, there finally
our treatments today. If you gave me DNA samples from
a few families with cystic fibrosis and a DNA sequencer,
(22:41):
a decent graduate student would have this answer in about
two days. That's the way it's happened. That's the that's
a great example of just what it has meant to
cross into this new territory where these technologies are so
powerful and so widely available. So if anybody tries to say, well,
you know, general Mix was sort of a fizzle that
didn't get us anywhere, boy, just look at what's now feasible.
(23:12):
And that's it for this week's prognosis. Thanks for listening.
Do you have a story about healthcare in the US
or around the world. We want to hear from you.
You can email me m Cortes at Bloomberg dot net
or find me on Twitter at the Cortes. If you
are a fan of this episode, please take a moment
to rate and review us. It helps new listeners find
the show. This episode was produced by Liz Smith. Our
(23:35):
story editor was Tim and Ette. Thanks also that Drew
Armstrong Francesco Levie is head of Bloomberg Podcasts. We'll see
you next week.
We're here to celebrate the completion of the first survey
of the entire human genome. Without a doubt, this is
the most important, most wondrous map ever produced by human kind.
The moment we are here to witness was brought about
brilliant and painstaking work of scientists all over the world,
including It was June two thousand. President Bill Clinton was
(00:38):
in the crowded White House East Room announcing a momentous achievement.
Government scientist had decoded nearly all three billion letters of
the human genetic blueprint. The excitement and the hype was intense.
President Clinton painted a tantalizing picture of the opening of
a new scientific frontier. With this profound new knowledge, human
kind is on the verge of gaining immense new power
(01:01):
to heal. Genome science will have a real impact on
all our lives, and even more on the lives of
our children. It will revolutionize the diagnosis, prevention, and treatment
of most, if not all, human diseases. In coming years,
doctors increasingly will be able to cure diseases like Alzheimer's, Parkinson's, diabetes,
(01:23):
and cancer by attacking their genetic roots. It didn't work
out that way at least not exactly. Welcome to Prognosis.
I'm your host, Michelle fay Cortes. This week, we're going
to tell you what happened after the press conference and
(01:44):
how one of the greatest undertakings in medical history, the
decoding of the human genome, was just the start of
an exhilarating, frustrating journey that's still far from over. Here's
Bloomberg's Bob Langrath with the story. Sitting next to Clinton
(02:13):
at the White House was Francis Collins. Cons is a geneticist,
and he led the international team that worked on the
genome project. Now he runs the National Institutes of Health.
I was both excited about the way in which the
world was going to find out that we had a
draft of the human genome sequence, the instruction book for
human biology. But I had also just spoken at the
(02:33):
funeral of my sister in law two days before, who
died from cancer and for whom this particular advance hadn't
come along soon enough. So I sort of put the
whole thing into focus of what we had and how
far we still needed to go for this to actually
benefit people who are waiting for answers. Actually the genome
(02:55):
wasn't done. There was only a first draft. The unveiling
was pushed out quickly, in part because the government was
raising a private group at the press conference, the teams
that only fully scanned about the genome. It would be
three years before the final version was published, and even
with the map, finding the causes of diseases in the
genetic code was elusive. Instead of a few key genes
(03:18):
driving common ailments like heart disease or diabetes, scientists found dozens,
if not hundreds. Human common disease is really complicated, more
complicated than we thought it was going to be less
than a decade ago. Despite the flood of new genome data,
there was a sense that drugs were getting harder to discover.
(03:40):
A two thousand and ten New York Times article called
the goal of finding the genetic roots of disease elusive.
It said that, quote geneticists are almost back to square
one and knowing where to look for the roots of
common disease unquote, but behind the scenes, something important was happening.
It took thirteen years and costs three billion dollars to
(04:02):
decode the first genome, and fo million dollars of that
went just to the sequencing itself. According to Dr Collins,
the sequencing machines that did most of the work for
sequencing that first human genome or the size of phone booths,
and it took a warehouse full of them to have
the kind of throughtput you needed to achieve this. DNA
(04:23):
sequencing needed to get faster, cheaper, and smaller. It needed
a revolution. If you look over the history of science,
the thing that has been profoundly game changing in a
scientific area is major technical innovations. You know, whether it
was inventing the telescope, what it did to astronomy, inventing
(04:45):
a microscope, what it did for microbiology and cell biology,
and look at that first cat scan, what it did
for radiology. That's Eric Greene, who is now director of
the National Human Genome Research Institute. He was an early
genome research or at the ni H. I think we
recognize that the technologies that were used for sequence in
(05:06):
that first human genome were good enough, but we needed
something far better. The trick was to take billions of
letters in a person's DNA and process them all at
the same time, like a computer circuit with billions of
transistors all firing at once. As newer and faster machines
were introduced, costs sank rapidly. In two thousand and five,
(05:26):
the cost of scanning a human genome ran to about
ten million dollars. By two fifteen, raw scanning costs plummeted
to below dollars. And in two thousand three, did I
believe it was going to happen this quickly? Absolutely not.
I'm sure any of us would have gotten it wrong,
probably by toothfold. We probably would have said it would
have taken, you know, thirty years to get down to
(05:46):
a thousand dollar human genome sequence. Room fulls of machines
were no longer needed. Dr Collins says, now on the
sequencing machines sit on the desktop, or in the most
dramatic example, they're about the size of a cell phone
that attaches directly to your laptop. That's when DNA sequencing
(06:10):
went from being a research tool and became medicine. In
two thousand and nine, doctors in Wisconsin were treating four
year old Nicholas Voker for a mysterious disease that produced
holes and his intestine. In desperation, his doctor's convinced genesis
at the Medical College of Wisconsin to sequence all his genes.
Here's next doctor reaching out to the geneticist with an
(06:33):
unprecedented request. Dear Howard, I hope you are well. I'm
writing to get your thoughts on a patient of mine
that might benefit from a high throughput sequencing of his genome.
This is a unique situation. This patients is very ill
and has been in the hospital since January. It worked.
(06:54):
They found an unexpected mutation and it pointed to a treatment,
a bone marrow transplant. The case exploded into the headlines
with the Milwaukee, Wisconsin Journal Sentinel wrote a Pulitzer Prize
winning series about the success. Around the same time, researcher
Stephen Kingsmore helped perform a highly detailed genome of a
Korean person. The medical potential was becoming clearer. We kind
(07:18):
of as a team had a Eureka moment when we said,
ah ha, there's a huge amount of information in here
that's of practical usefulness to people, and this really changed
the trajectory of my career. Maybe want to go from
a basic research institute back into a hospital environment where
we could start to apply this and understand what it
(07:39):
might mean for the future of medicine. By two thousan twelve,
Dr Kingsmore was testing out a new ultra fast sequencing
machine on sick babies. We started to use it in
our neonatal intensive care unit, where decisions had to be
made within minutes or ours. There was no time to
lose in making it diagnosis, and so we published a
(08:03):
paper in October twelve saying that we could decode a
baby's genome in forty eight hours and return those results
back to the ne anatologists and showed that it would
change the management. That was truly a breakthrough. Dr Kingsmore
is now at the forefront of using genome testing to
diagnose and treat infants with unknown genetic diseases at the
(08:26):
RADI Children's Institute for Genomic Medicine in San Diego. It
turns out to be an ideal application for genome sequencing.
Tens of thousands of babies are born each year with
unknown genetic diseases. There are ten thousand genetic diseases, and
no physician on planet Earth has ever seen them all,
so picking which of those to test for is incredibly difficult.
(08:48):
The second thing is that in newborns, the genetic diseases
really don't look like their textbook description. When you put
those two reasons together, it means that without the ability
to just survey the entire genome and examine all ten
thows and genetic diseases at once, the likelihood of a
physician making the correct diagnosis is almost zero. His lab
(09:14):
has three of the top of the line geno i'm
scanning machines from a company called a Lumina. The machines
are roughly the size of a washing machine. In urgent situations,
his team can decode a baby genome in about two days.
We receive blood samples and medical records from about fifteen
children's hospitals all around North America, and so they will
(09:38):
contact us and let us know that they have a
kid who they believe they might need a genome sequence on,
and the following morning the sample will arrive. Will then
put that into our batch for the day, and our
goal is to deliver a diagnostic result as quickly as
as humanly possible back to that physician, with a goal
(10:01):
obviously of giving treatment guidance that will either save a
child's life or prevent complications of that disease. In three
years at Rady, Dr Kingsmore's team is the code of
the genomes of hundreds of sick babies, and it is
making a difference. So one and two or one in three,
we will make a diagnosis. A figure that's completely consistent
(10:24):
is that of those diagnoses will resultant changes in how
the baby is managed in the intensive care unit. And
then about one and four has a change in outcome.
Sometimes it has life saving There are some extraordinary saves.
There are some children who undoubtedly would die, and we
(10:45):
make a phone call with a diagnosis. There's a treatment
that's given promptly, and the child does well, faster, cheaper.
DNA toton was beginning to revolutionize medical care by two
Then in two two things happened, one in Washington and
(11:09):
the other in Hollywood. The Supreme Court said that jeans
couldn't be someone's intellectual property, and one of the world's
biggest movie stars made a start medical choice based on
her DNA. A few years ago, a blood test revealed
that Angeline had carried a mutation of the b r
c A one gene, giving her an estimated eighty seven
(11:31):
percent risk of breast cancer of fifty risk of ovarian cancer.
So in she had both brushed removed and underwent reconstructive surgery,
emerging as a beacon of hope for women when she
told the world, I feel wonderful. I'm very, very grateful.
(11:56):
Ellen Mattlof at the time was a cancer genetic counselor
at Yeah University. She helped patients and their families understand
their risk, what are the correct tests, and interpret complex
DNA results. When I was the director of the cancer
Genetic Counseling program at Yale, I saw several things shifting,
and they were seismic shifts. First, Angelina Jolie came out
(12:20):
with her New York Times editorial that she was a
b r C A one carrier, and overnight our referrals
increased by fort and they never returned to baseline. There
was a huge change. Then a few weeks later, the
Supreme Court issued its ruling that meant companies, including the
(12:40):
one that had a monopoly in the test Angelina Jolie used,
couldn't own the patents on Jeanes Here's Dr Collins again.
It was a wonderful day, indeed, when the Supreme Court,
in a nine to nothing decision, came out with their
conclusion that gene patenting ought not to be a ouabol
that it didn't fit with the original goals of the
(13:02):
patent system, and I think that has opened up diagnostics
in a much broader way, which has been a very
good thing for the whole field and has accelerated the
possibilities of many of us having that kind of information
now or in the future. For years, one company had
the patent on b r C A one and b
r C A two, the most common causes of hereditary
(13:25):
breast cancer. That meant that hospitals and companies not holding
the patent couldn't combine them into broader tests. Gene patenting
was a serious threat on the view of many of
us to progress in this field, and yet it continued
for quite a few years after that. At the time
(13:46):
of the Supreme Court ruling, BRCA testing costs as much
as four thousand dollars. Within days of the decision, new
companies that have been barred from the market started offering
their own tests. Cost plummeted. Ellen matt Loff, who now
runs a startup called My Gene Council, was a plaint
different the Supreme Court case. She saw the impact on
patients firsthand. And today we have some testing companies that
(14:10):
have offered b r C A one and two testing
from time to time for a hundred or two hundred dollars,
so it's changed dramatically. Of course, cost isn't the only
problem that geneticists were grappling with, and the easy diagnoses
and freely flowing data envisioned years ago haven't quite come
to pass. I can remember fifteen years ago when the
(14:31):
genome was sequenced that everyone was saying that first of all,
you would carry around your genome like a flash drive
and it would be a piece of cake. You just
bring it to your doctor's office, plug it in, and
that every doctor would be so educated on genomics that
they would be able to interpret it. None of that
has been as simple as it sounded. But where the
(14:53):
failure has come is helping consumers and healthcare providers under
stand and use the data. Also, as genetic tests become
more common, the risk of misinterpretation by doctors untrained in
the complex world of genetics is growing. This is especially
true in the high stakes area of cancer. We're ordering
(15:14):
the wrong tests or misinterpreting the result can lead to
a fatal illness or unnecessary surgery. It's a problem that
some say is getting worse, we're finding that genetic test
results are being misinterpreted more often now than ever before,
and the reason for that is that fewer patients are
seeing certified genetic counselors to order their tests and to
(15:37):
interpret them after. And also the tests have grown in complexity,
so it's easier to misinterpret them now. In terms of drugs,
Dr Collins says cancer is one area that seen a
direct impact from the Genome project. Cancer is fundamentally genetic disease,
(16:00):
and understanding gene abnormalities and patient tumors has led to
powerful new treatments for leukemia, certain types of lung cancer,
and breast cancer. If you want to take an area
we're having access to genome sequence has been revolutionary, it's cancer.
If I had cancer today, or if anybody I know
had cancer today, I would want their tumor to undergo
(16:21):
a complete DNA sequencing in order to identify what mutations
have happened in that cancer to cause those good cells
to go bad. Increasingly, cancer centers are scanning patients DNA
to match them to the treatment most likely to work
for them, and biotech companies are working on developing a
liquid biopsy that which detect signs of cancer in the blood.
(16:42):
So far this year, there have been about a dozen
new cancer drugs approved by the FDA, and so the
list of targeted drug treatments for cancer is growing almost daily. Nevertheless,
many tumors have turned out to have a complicated array
of mutations and we don't always know how to arget them.
But there may be another reason why there aren't more
(17:03):
gene based drugs. Louise am All, who studies complex systems
at Northwestern University That's found that risk averse researchers have
been concentrating most of their attention on genes that have
been known for years. They are ignoring unknown genes, some
of which could lead to medical breakthroughs. One of the
numbers that I think is important is this idea that
five of the genes are accounting for about fifty of
(17:28):
the publications. Very little attention is really being given to
a very large fraction of the of the genes. In fact,
in the five years between twous and eleven and two fifteen,
Dr Amroll and as research partner Thomas Stutgart found only
a handful of new genes broke out from obscurity to
become objects of intensive scientific research. Everybody is becoming more
(17:51):
and more conservative, which means that the way in which
we are exploring the known is less and less efficient.
But if we keep having at attitudes we are never
I mean, it's going to be you know, a new
gene understood per per year, and at that rate it
would only take about another fifteen thousand years to understand
(18:13):
every single gene in the human geno. One method that
has proven useful for finding new drugs has been looking
for people with certain genetic abnormalities, but instead of hurting them,
their mutations help and a robust constructor in Texas with
super low cholesterol had a rare mutation in a gene
called PCSK nine. That discovery has led to two powerful
(18:36):
new cholesterol lowering medications into US and fifteen here's Dr
Collins again finding individuals who are rare examples where they're
protected against disease. You could call them superhumans. Um is
very much part of what anybody who thinks about genetics
would hope to find, and that's what we found with
PCSK nine. It's one of those really amazing success stories
(18:57):
of the last decade. To help find more vision treatments,
the NAH set up a giant new research program that
will track the health information of one million American residents,
eventually sequencing the genomes of all of them. That all
of us project will cost one point five billion over
ten years. If we really want to understand how effectively
(19:17):
to apply precision medicine to the average person in this country,
we need a very large pilot study to find out
how that works. This will be the largest, most powerful
research database ever contemplated in this country, and it will
teach us whether such things as knowing your genome sequence
is going to make you healthier. So what's next? George Church,
(19:44):
the genetics professor at Harvard Medical School, thinks the state
of DNA testing and scanning it's like the Internet in
the early nineties. So I was using computer network type
of things around, which is about the time that the
Internet started, and it was pretty sleepy until around when
(20:04):
suddenly everybody saw that there was a web browser, and
then within a year there was millions of web pages.
From almost a standstill, we have all the infrastructure in
place to sequence millions of human genos possibly billions, with
a little effort, but people are not aware of it.
They don't realize that the killer apps are already some
of them are already there. In October, the Food and
(20:27):
Drug Administration approved the first direct to consumer tests to
spot genetic variations and how people's bodies interact with different medicines,
but warned that people shouldn't use it to make medical
decisions by themselves. But while most people don't need it,
the potential for greater use of genetic testing is enormous.
Here's Dr Collins again. We now know that probably two
or three percent of us are walking around with significant
(20:52):
DNA mistakes that would be actionable right now if we
knew about it that we have one of those misspelled
things that places us at risk maybe for heart disease
or cancer, or some clotting problem or some neurologic difficulty.
Two or three percent, well goodness six If they're three
million people just in this country, we're talking about somewhere
(21:15):
between six to nine million people right now that if
they had that information, their medical care would change for
their benefit. George Church thinks that genome scanning could directly
help at least one percent of people and more are
walking around with genetic variants and might put their children
at risk. But that would be my guess is ten
years from now, we could have everybody who has any
(21:38):
reasonable health care plan, maybe a billion people sequenced, and
then five of those that are at risk for having
children that have a severe genet disease will avoid that.
The key, he says, is getting people to do it.
I think it's analogous to seat belts, where the seat
belts were free, but people still didn't use them and
(21:59):
you had to had to have some public health strategy.
We've come a long way. Francis Collins's career shows how
much the technology has advanced. When he and other scientists
were trying to find the gene for cystic fibrosis in
the nineteen eighties, it was agonizingly slow going. It was
horrendously difficult. There was no genome project. There was very
(22:21):
little knowledge about anything about the DNA of the human
except little tiny islands that people had worked on. It
took years, but now, thanks to their groundwork, there finally
our treatments today. If you gave me DNA samples from
a few families with cystic fibrosis and a DNA sequencer,
(22:41):
a decent graduate student would have this answer in about
two days. That's the way it's happened. That's the that's
a great example of just what it has meant to
cross into this new territory where these technologies are so
powerful and so widely available. So if anybody tries to say, well,
you know, general Mix was sort of a fizzle that
didn't get us anywhere, boy, just look at what's now feasible.
(23:12):
And that's it for this week's prognosis. Thanks for listening.
Do you have a story about healthcare in the US
or around the world. We want to hear from you.
You can email me m Cortes at Bloomberg dot net
or find me on Twitter at the Cortes. If you
are a fan of this episode, please take a moment
to rate and review us. It helps new listeners find
the show. This episode was produced by Liz Smith. Our
(23:35):
story editor was Tim and Ette. Thanks also that Drew
Armstrong Francesco Levie is head of Bloomberg Podcasts. We'll see
you next week.
Host
Jason Gale
Popular Podcasts
Stuff You Should Know
If you've ever wanted to know about champagne, satanism, the Stonewall Uprising, chaos theory, LSD, El Nino, true crime and Rosa Parks, then look no further. Josh and Chuck have you covered.
Dateline NBC
Current and classic episodes, featuring compelling true-crime mysteries, powerful documentaries and in-depth investigations. Follow now to get the latest episodes of Dateline NBC completely free, or subscribe to Dateline Premium for ad-free listening and exclusive bonus content: DatelinePremium.com
On Purpose with Jay Shetty
I’m Jay Shetty host of On Purpose the worlds #1 Mental Health podcast and I’m so grateful you found us. I started this podcast 5 years ago to invite you into conversations and workshops that are designed to help make you happier, healthier and more healed. I believe that when you (yes you) feel seen, heard and understood you’re able to deal with relationship struggles, work challenges and life’s ups and downs with more ease and grace. I interview experts, celebrities, thought leaders and athletes so that we can grow our mindset, build better habits and uncover a side of them we’ve never seen before. New episodes every Monday and Friday. Your support means the world to me and I don’t take it for granted — click the follow button and leave a review to help us spread the love with On Purpose. I can’t wait for you to listen to your first or 500th episode!