[Script Info]
Title: 
[Events]
Format: Layer, Start, End, Style, Name, MarginL, MarginR, MarginV, Effect, Text
Dialogue: 0,0:00:00.00,0:00:09.33,Default,,0000,0000,0000,,{\i1}rc3 preroll music{\i0}
Dialogue: 0,0:00:09.33,0:00:15.12,Default,,0000,0000,0000,,Herald: Welcome back in Halle with Chaos\NZone TV, the next talk, will have
Dialogue: 0,0:00:15.12,0:00:20.08,Default,,0000,0000,0000,,interactive elements, so here are the\Nhashtags again. We're on Mastodon with
Dialogue: 0,0:00:20.80,0:00:29.84,Default,,0000,0000,0000,,@Twitter with the hashtag RC3 Chaos\NZone and on the IRC channel in Heckint and
Dialogue: 0,0:00:29.84,0:00:40.36,Default,,0000,0000,0000,,which is RC3 Dash Chaos Zone. All right. Lisette\Nwill now speak to us with a talk called
Dialogue: 0,0:00:40.36,0:00:46.73,Default,,0000,0000,0000,,"What the Health Beyond Genome\NSequencing". Since the 80s, the Human
Dialogue: 0,0:00:46.73,0:00:52.99,Default,,0000,0000,0000,,Genome Project set goals to technical and\Nethical goals to understand the human
Dialogue: 0,0:00:52.99,0:00:58.88,Default,,0000,0000,0000,,genome. In recent years, these goals have\Nbeen achieved, and humanity could profit
Dialogue: 0,0:00:58.88,0:01:06.16,Default,,0000,0000,0000,,immensely from what the sciences and the\Ntechnology the methods could be developed
Dialogue: 0,0:01:06.16,0:01:13.32,Default,,0000,0000,0000,,through the project. Lisette works at the\Nbleeding edge of what it is now a hard
Dialogue: 0,0:01:13.32,0:01:18.59,Default,,0000,0000,0000,,data science. We are very excited to hear\Nabout the considerations and the
Dialogue: 0,0:01:18.59,0:01:22.02,Default,,0000,0000,0000,,practicalities of advancing the biology\Neven further.
Dialogue: 0,0:01:22.02,0:01:32.64,Default,,0000,0000,0000,,Lisette: OK. Yeah, thank you very much for\Nthe introduction. It's my pleasure to give
Dialogue: 0,0:01:32.64,0:01:37.60,Default,,0000,0000,0000,,some insights into what I've learned\Nthroughout my studies and what I'm now
Dialogue: 0,0:01:37.60,0:01:44.08,Default,,0000,0000,0000,,actually also working on. So thank you for\Nproviding me this slot. I was a little bit
Dialogue: 0,0:01:45.04,0:01:50.64,Default,,0000,0000,0000,,surprised when I thought, Oh, OK, now I\Nactually have to give the talk. So please
Dialogue: 0,0:01:51.28,0:02:00.24,Default,,0000,0000,0000,,forgive me if I'm sort of nervous, but\Nstay with me and thank you everyone for
Dialogue: 0,0:02:00.24,0:02:04.96,Default,,0000,0000,0000,,watching and for filling in the survey\Nbeforehand, and you will have another
Dialogue: 0,0:02:04.96,0:02:12.48,Default,,0000,0000,0000,,option to participate in the poll later\Non. So I have some things to announce
Dialogue: 0,0:02:12.48,0:02:21.60,Default,,0000,0000,0000,,first, which would be about the content.\NSo it will all be very abstract. So we are
Dialogue: 0,0:02:21.60,0:02:28.72,Default,,0000,0000,0000,,talking more about concepts than\Nabout actual disease and suffering. So
Dialogue: 0,0:02:28.72,0:02:34.40,Default,,0000,0000,0000,,there will be no photos. But yeah, the\Ngeneral theme is about medical
Dialogue: 0,0:02:34.40,0:02:41.60,Default,,0000,0000,0000,,examination, everything clinical, about\Nthe patient assessing somebody's disease
Dialogue: 0,0:02:41.60,0:02:49.12,Default,,0000,0000,0000,,and disease risk, and also going into the\Nmore severe conditions of which you might
Dialogue: 0,0:02:49.12,0:02:56.32,Default,,0000,0000,0000,,die. And we also touch upon family\Nrelationships. So just so you know, yeah,
Dialogue: 0,0:02:56.32,0:03:02.24,Default,,0000,0000,0000,,it will come back every now and then. So\Njust for everyone to be aware. And then
Dialogue: 0,0:03:02.24,0:03:11.20,Default,,0000,0000,0000,,also, yeah, I need to disclose that I'm an\Nemployee of a company that does work on
Dialogue: 0,0:03:11.20,0:03:20.24,Default,,0000,0000,0000,,marketing genetic tests. So that set\Naside, this is not this is not any kind of
Dialogue: 0,0:03:20.24,0:03:29.68,Default,,0000,0000,0000,,advertising talk. It's really about what\Nis actually happening technology wise. So
Dialogue: 0,0:03:29.68,0:03:36.72,Default,,0000,0000,0000,,I want to give you the insights into a\Nlittle bit of the technology, how it came
Dialogue: 0,0:03:36.72,0:03:43.04,Default,,0000,0000,0000,,about and where we are now, and also try\Nand give you an overview of what are the
Dialogue: 0,0:03:43.04,0:03:53.20,Default,,0000,0000,0000,,options in terms of genetic testing for\Nvarious utilitys and raise awareness just
Dialogue: 0,0:03:53.20,0:04:01.60,Default,,0000,0000,0000,,for also the ethnical issues that might\Narise from what we can learn from our DNA.
Dialogue: 0,0:04:03.28,0:04:15.84,Default,,0000,0000,0000,,So this is enough of the prolog. Let's go\Nright into looking at a patient which is
Dialogue: 0,0:04:16.56,0:04:23.04,Default,,0000,0000,0000,,classically done from the outside. So we\Nwant to know what is different about this
Dialogue: 0,0:04:23.04,0:04:30.24,Default,,0000,0000,0000,,person or a patient. And yeah, there are\Nreally layers of information, and you
Dialogue: 0,0:04:30.24,0:04:37.28,Default,,0000,0000,0000,,always assume that there's a relationship\Nwith a condition. So be it a rash that you
Dialogue: 0,0:04:37.28,0:04:43.76,Default,,0000,0000,0000,,see on the outside or as swelling that the\Ndoctor can't feel or something that they
Dialogue: 0,0:04:43.76,0:04:50.96,Default,,0000,0000,0000,,learn from interrogating the patient. And\Nthen there's a bit of a borderline outside
Dialogue: 0,0:04:50.96,0:05:00.72,Default,,0000,0000,0000,,inside test, which would be bodily fluids.\NSo if you test urine, saliva, blood, yeah,
Dialogue: 0,0:05:00.72,0:05:06.64,Default,,0000,0000,0000,,you already look on the inside. So what's\Nhappening inside of the patient and the
Dialogue: 0,0:05:07.36,0:05:15.84,Default,,0000,0000,0000,,metabolome? Yeah, what's what's going on\Nin terms of small molecules that you might
Dialogue: 0,0:05:15.84,0:05:20.88,Default,,0000,0000,0000,,detect with the one or the other test? And\Nalso what you can see on the inside is
Dialogue: 0,0:05:21.68,0:05:30.80,Default,,0000,0000,0000,,broken bones or cysts that shouldn't be\Nthere. So for that, we use imaging which
Dialogue: 0,0:05:30.80,0:05:37.12,Default,,0000,0000,0000,,where x-ray is the oldest, and then\Nthere's magnetic resonance and pet
Dialogue: 0,0:05:37.12,0:05:44.00,Default,,0000,0000,0000,,scanning. So these are like the cool,\Nadvanced additional layers where you can
Dialogue: 0,0:05:44.00,0:05:51.60,Default,,0000,0000,0000,,look inside of the of the patient. And\Nthen of course, there's DNA. So if we look
Dialogue: 0,0:05:51.60,0:05:59.60,Default,,0000,0000,0000,,even deeper and inside each cell, you will\Nhave the genetic code of this person, so
Dialogue: 0,0:05:59.60,0:06:09.84,Default,,0000,0000,0000,,to tell how they are different on a very\Nsmall scale. So that is the dogma of
Dialogue: 0,0:06:09.84,0:06:18.56,Default,,0000,0000,0000,,molecular biology that you go from DNA,\Nwhich is your genetic blueprint, and then
Dialogue: 0,0:06:18.56,0:06:24.80,Default,,0000,0000,0000,,certain parts are transcribed so the cell\Nmakes copies of the DNA, which what I'm
Dialogue: 0,0:06:24.80,0:06:30.96,Default,,0000,0000,0000,,called RNA, because it's a different\Nchemistry and these are then translated
Dialogue: 0,0:06:30.96,0:06:37.68,Default,,0000,0000,0000,,into chains of amino acids, so there's a\Ncode which amino acid should be attached
Dialogue: 0,0:06:37.68,0:06:42.08,Default,,0000,0000,0000,,to which one. And then you fold it\Nproperly and then you have a functional
Dialogue: 0,0:06:42.08,0:06:48.32,Default,,0000,0000,0000,,protein. And then now why you sequence the\NDNA is because you assume that there's a
Dialogue: 0,0:06:48.32,0:06:56.56,Default,,0000,0000,0000,,mistake made, which then leads to a faulty\Nprotein. And then in the end, something in
Dialogue: 0,0:06:56.56,0:07:06.24,Default,,0000,0000,0000,,your body doesn't work. So, yeah, it's a\Nvery simple concept, if you will. And
Dialogue: 0,0:07:06.24,0:07:14.72,Default,,0000,0000,0000,,then, yeah, when we check in the DNA and\Nin the RNA is about 20000 protein coding
Dialogue: 0,0:07:14.72,0:07:23.20,Default,,0000,0000,0000,,genes. And then there's also a different\Ntypes of RNA that do not code for proteins
Dialogue: 0,0:07:23.20,0:07:30.56,Default,,0000,0000,0000,,that regulate other stuff so that the\Ncorrect genes are actually transcribed and
Dialogue: 0,0:07:30.56,0:07:37.68,Default,,0000,0000,0000,,translated. So that's an additional 20 to\N30 thousand, potentially more. And so if
Dialogue: 0,0:07:37.68,0:07:45.60,Default,,0000,0000,0000,,you combine any of these two, see like a\Ncertain signature of a person, you already
Dialogue: 0,0:07:45.60,0:07:52.16,Default,,0000,0000,0000,,have billions of combinations. So as you\Ncan imagine, there are many, many, many
Dialogue: 0,0:07:52.16,0:07:59.52,Default,,0000,0000,0000,,signatures possible. But yeah, which of\Nthese will actually tell you something
Dialogue: 0,0:07:59.52,0:08:13.44,Default,,0000,0000,0000,,about the patient? So. Let's go back to\Nhow we sequence the DNA. So it is actually
Dialogue: 0,0:08:13.44,0:08:25.12,Default,,0000,0000,0000,,very simple. All of our usually 46\Nchromosomes so that 23 pairs are made of
Dialogue: 0,0:08:25.68,0:08:33.04,Default,,0000,0000,0000,,at double stranded code, which is the DNA.\NAnd then you see here in the unfolded
Dialogue: 0,0:08:33.04,0:08:41.76,Default,,0000,0000,0000,,region that where a gene is starting, it\Nusually starts with A T G and these are
Dialogue: 0,0:08:42.40,0:08:52.40,Default,,0000,0000,0000,,ciramated bases. So you have here in the\Nchemical metal insert and the A and the T,
Dialogue: 0,0:08:52.40,0:08:59.44,Default,,0000,0000,0000,,which form a pair. So the red thing is in\Nbetween are hydrogen bonds that keep them
Dialogue: 0,0:08:59.44,0:09:06.80,Default,,0000,0000,0000,,together. And A and T always want to be\Ntogether. And C and G always want to be
Dialogue: 0,0:09:06.80,0:09:12.00,Default,,0000,0000,0000,,together. C and G actually form three of\Nthose bonds. So in a little bit more
Dialogue: 0,0:09:12.00,0:09:21.36,Default,,0000,0000,0000,,stable. And so as you can see, this double\Nstranded DNA is hands always inverted on
Dialogue: 0,0:09:21.36,0:09:27.12,Default,,0000,0000,0000,,the other strand, so we call it the\Ncomplementary strands. So if you have ATG
Dialogue: 0,0:09:27.12,0:09:35.60,Default,,0000,0000,0000,,on one strand, you always have TAC on the\Nother. So you only sequence one and we
Dialogue: 0,0:09:35.60,0:09:42.88,Default,,0000,0000,0000,,defines the direction of the gene because\Nwe know in which direction it makes sense
Dialogue: 0,0:09:42.88,0:09:46.96,Default,,0000,0000,0000,,because, you know, only in one direction\Nyou can then make a protein out of this
Dialogue: 0,0:09:47.92,0:09:56.32,Default,,0000,0000,0000,,code. So enough for the chemistry and the\Nprinciple. So we really want to know and
Dialogue: 0,0:09:56.32,0:10:02.88,Default,,0000,0000,0000,,to map where on each chromosome, which\Nletter occurs. So you can imagine that
Dialogue: 0,0:10:02.88,0:10:11.68,Default,,0000,0000,0000,,this is quite an adventure and takes a lot\Nof effort. And actually, it has also
Dialogue: 0,0:10:12.24,0:10:20.72,Default,,0000,0000,0000,,started very early on in the 70s. So maybe\Nyou have heard of Sanger sequencing. So
Dialogue: 0,0:10:20.72,0:10:28.00,Default,,0000,0000,0000,,that was the first generation of\Nsequencing from 1977, where you
Dialogue: 0,0:10:28.00,0:10:36.24,Default,,0000,0000,0000,,essentially cut the strand in little\Npieces and you know which one ends with an
Dialogue: 0,0:10:36.24,0:10:42.24,Default,,0000,0000,0000,,A, ends with a T.. So you have all kinds of\Nfragments with different lengths which run
Dialogue: 0,0:10:42.24,0:10:48.96,Default,,0000,0000,0000,,over a gel, which is not that important.\NBut it's it is also called capillary
Dialogue: 0,0:10:48.96,0:10:56.64,Default,,0000,0000,0000,,sequencing, which then helped finding the\Nfirst human disease gene, which is called
Dialogue: 0,0:10:56.64,0:11:02.16,Default,,0000,0000,0000,,the Huntington team. You might heard of the\Ndisease where it belongs to Korea,
Dialogue: 0,0:11:02.16,0:11:09.28,Default,,0000,0000,0000,,Huntington's. And so this was the first\Nassociation that was really confirmed
Dialogue: 0,0:11:09.28,0:11:17.28,Default,,0000,0000,0000,,that, OK, you have a defect in a certain\Ngene, which directly translates into a
Dialogue: 0,0:11:17.28,0:11:24.64,Default,,0000,0000,0000,,disease phenotype, but this is very rare.\NSo usually it is a lot more complex and we
Dialogue: 0,0:11:24.64,0:11:35.52,Default,,0000,0000,0000,,will also get to that. So the capillary\Nsequencing still lasted for a while, so 10
Dialogue: 0,0:11:35.52,0:11:39.52,Default,,0000,0000,0000,,years later, you had really cool\Ninstruments for the first time from
Dialogue: 0,0:11:40.40,0:11:47.20,Default,,0000,0000,0000,,Applied Biosystems so that you can\Nsequence a little bit quicker, but still
Dialogue: 0,0:11:48.56,0:11:56.32,Default,,0000,0000,0000,,far from looking at the whole genome. So\Nthat was then planned starting in 1988.
Dialogue: 0,0:11:56.96,0:12:01.76,Default,,0000,0000,0000,,They defined the goals for the Human\NGenome Project, which would then take from
Dialogue: 0,0:12:01.76,0:12:13.52,Default,,0000,0000,0000,,1990 until 2003 to complete one full human\Ngenome. So full in the sense that it still
Dialogue: 0,0:12:13.52,0:12:21.12,Default,,0000,0000,0000,,had gaps. So there are some regions which\Nare tricky to sequence, so these gaps were
Dialogue: 0,0:12:21.12,0:12:31.04,Default,,0000,0000,0000,,filled later on. But still, yeah, this was\Na huge undertaking which cost about two to
Dialogue: 0,0:12:31.04,0:12:39.92,Default,,0000,0000,0000,,three billion US dollars. And eventually,\Nin 2000, they announced that they had a
Dialogue: 0,0:12:39.92,0:12:48.96,Default,,0000,0000,0000,,first draft of the human genome, and then\Nit got published in 2001 in the two big
Dialogue: 0,0:12:50.96,0:12:58.64,Default,,0000,0000,0000,,scientific journals, Nature and Science,\Nboth on the cover the human genome. So
Dialogue: 0,0:12:58.64,0:13:05.44,Default,,0000,0000,0000,,that was and is a big step. So it's yeah,\Nthat's just crucial to know, what we are
Dialogue: 0,0:13:05.44,0:13:13.36,Default,,0000,0000,0000,,looking at to have a map of our complete\Ngenome, where then you can map other
Dialogue: 0,0:13:13.36,0:13:23.28,Default,,0000,0000,0000,,people's sequences to as well. So that's\Nwhat started also in 2005. But then for
Dialogue: 0,0:13:23.28,0:13:31.04,Default,,0000,0000,0000,,different types of cancer, it's called\NTCGA from the genome, the Cancer Genome
Dialogue: 0,0:13:31.04,0:13:39.44,Default,,0000,0000,0000,,Atlas, and it also lasted for a couple of\Nyears. But then they were much quicker in
Dialogue: 0,0:13:39.44,0:13:49.60,Default,,0000,0000,0000,,sequencing, because 2005 was also the year\Nof next generation sequencing machines. So
Dialogue: 0,0:13:49.60,0:13:56.00,Default,,0000,0000,0000,,nowadays we don't do Sanger sequencing\Nanymore or rarely. We usually rely on
Dialogue: 0,0:13:57.44,0:14:06.80,Default,,0000,0000,0000,,heavy, high throughput parallel sequencing\Nso that you can sequence a lot more
Dialogue: 0,0:14:06.80,0:14:15.84,Default,,0000,0000,0000,,different pieces, so to say, at the same\Ntime and with very high accuracy. So
Dialogue: 0,0:14:16.56,0:14:26.16,Default,,0000,0000,0000,,essentially, this means, that we now have\Naccess to 3.1 billion base pairs, which
Dialogue: 0,0:14:26.16,0:14:33.36,Default,,0000,0000,0000,,were first collected during this human\Ngenome project. And this nice
Dialogue: 0,0:14:33.36,0:14:38.64,Default,,0000,0000,0000,,advertisement when they were looking for\Nvolunteers is really cute, actually,
Dialogue: 0,0:14:38.64,0:14:46.24,Default,,0000,0000,0000,,because they also say here that this photo\Nof the project will have tremendous impact
Dialogue: 0,0:14:46.24,0:14:52.16,Default,,0000,0000,0000,,on future progress of medical science and\Nlead to improved diagnosis and treatment
Dialogue: 0,0:14:52.16,0:14:58.56,Default,,0000,0000,0000,,of hereditary diseases. Volunteers will\Nreceive information about the project and
Dialogue: 0,0:14:58.56,0:15:04.08,Default,,0000,0000,0000,,sign a consent form. No personal\Ninformation will be maintained or
Dialogue: 0,0:15:04.08,0:15:12.80,Default,,0000,0000,0000,,transferred, and a small monetary\Nembarrassment will be provided. So, yeah,
Dialogue: 0,0:15:12.80,0:15:21.12,Default,,0000,0000,0000,,they were promised that their data would\Nbe kept anonymously and also they
Dialogue: 0,0:15:21.92,0:15:29.44,Default,,0000,0000,0000,,collected blood from female volunteers or\Nsperm from male volunteers. And then they
Dialogue: 0,0:15:29.44,0:15:34.48,Default,,0000,0000,0000,,collected a lot more samples than what\Nthey would need so that in the end, you
Dialogue: 0,0:15:34.48,0:15:41.36,Default,,0000,0000,0000,,couldn't tell anymore from whom the genome\Nwas actually derived. And there was one
Dialogue: 0,0:15:41.36,0:15:49.92,Default,,0000,0000,0000,,volunteer at Roswell Park and hence called\NRP11, who had happened to have
Dialogue: 0,0:15:50.64,0:15:58.32,Default,,0000,0000,0000,,exceptional quality sequencing reads. And\Nthen so the first human genome was mainly
Dialogue: 0,0:15:58.32,0:16:06.56,Default,,0000,0000,0000,,based on this one person, and we have\Nmultiple new versions published of the
Dialogue: 0,0:16:06.56,0:16:13.12,Default,,0000,0000,0000,,human reference genome today. Its version\N38 and still about 70 percent are
Dialogue: 0,0:16:13.12,0:16:23.76,Default,,0000,0000,0000,,untouched from this first genome assembly.\NAnd a small thing about the cost. So I
Dialogue: 0,0:16:23.76,0:16:32.32,Default,,0000,0000,0000,,mentioned that this was a really costly\Nproject. Two to three billion dollars. And
Dialogue: 0,0:16:32.32,0:16:42.32,Default,,0000,0000,0000,,now we have actually cracked the $1000\Nthreshold. So it is possible to sequence a
Dialogue: 0,0:16:42.32,0:16:48.32,Default,,0000,0000,0000,,full human genome for about a thousand\Nbucks, which is remarkable. So this is
Dialogue: 0,0:16:48.32,0:16:57.68,Default,,0000,0000,0000,,really an enormous drop in the cost just\Nbecause the technology made such a big
Dialogue: 0,0:16:57.68,0:17:07.20,Default,,0000,0000,0000,,leap when we came to the next generation\Nsequencing. And also one genome. If you
Dialogue: 0,0:17:07.20,0:17:13.28,Default,,0000,0000,0000,,have it sufficiently covered so that you\Nare sure about which base pairs and which
Dialogue: 0,0:17:13.28,0:17:21.76,Default,,0000,0000,0000,,position, then you have about 180\Ngigabytes of raw rids. And if you align
Dialogue: 0,0:17:21.76,0:17:29.04,Default,,0000,0000,0000,,them to the reference genome, which is, of\Ncourse, now your atlas, if you will, so
Dialogue: 0,0:17:29.04,0:17:34.64,Default,,0000,0000,0000,,you can put all our rids to the correct\Nplace. And then this is called an
Dialogue: 0,0:17:34.64,0:17:39.84,Default,,0000,0000,0000,,alignment file, which is about 80\Ngigabytes. And if you then only keep the
Dialogue: 0,0:17:39.84,0:17:45.76,Default,,0000,0000,0000,,positions where something is different\Nfrom the reference genome and you compress
Dialogue: 0,0:17:45.76,0:17:52.96,Default,,0000,0000,0000,,it, you are left with about 5 percent\Nof that. So 4 gigabytes per person.
Dialogue: 0,0:17:52.96,0:18:05.60,Default,,0000,0000,0000,,Storable, nice little genome. OK. So this\Ntakes me to the first poll, which is on
Dialogue: 0,0:18:05.60,0:18:11.92,Default,,0000,0000,0000,,simple vote. A couple of people\Nalready have participated in the monkey
Dialogue: 0,0:18:11.92,0:18:21.92,Default,,0000,0000,0000,,survey. Then, yeah, you don't have to do\Nit again now, but the vote link will also
Dialogue: 0,0:18:21.92,0:18:30.24,Default,,0000,0000,0000,,be in. And you also just fill in any name\Ncombination of letters, click OK, and then
Dialogue: 0,0:18:30.24,0:18:38.24,Default,,0000,0000,0000,,you can answer the first question, which I\Npresent here. So this is just three
Dialogue: 0,0:18:38.24,0:18:43.60,Default,,0000,0000,0000,,statements about sequencing a full human\Ngenome. Whether you believe that it has
Dialogue: 0,0:18:43.60,0:18:50.08,Default,,0000,0000,0000,,replaced fingerprinting in forensic\Ninvestigations, where do you think that it
Dialogue: 0,0:18:50.08,0:18:56.40,Default,,0000,0000,0000,,gives you all the clinically relevant\Ninformation for any patient and whether
Dialogue: 0,0:18:56.40,0:19:05.28,Default,,0000,0000,0000,,you think that it is cheaper than a full\Nbody MRI scan? So yeah, we will get to the
Dialogue: 0,0:19:05.28,0:19:13.04,Default,,0000,0000,0000,,results in a bit. I will just continue\Nwith a couple more slides and then we can
Dialogue: 0,0:19:13.04,0:19:19.84,Default,,0000,0000,0000,,see. What do you guys think, and I'm\Nreally curious to actually hear that. And
Dialogue: 0,0:19:19.84,0:19:31.36,Default,,0000,0000,0000,,see it for myself. Let's see. So if you\Nthink in terms of complexity, we have
Dialogue: 0,0:19:31.36,0:19:38.32,Default,,0000,0000,0000,,already touched upon Korea, Huntington,\Nwhich is a single gene, essentially that
Dialogue: 0,0:19:38.32,0:19:47.36,Default,,0000,0000,0000,,gives you a full blown disease if it's not\Nencoded properly. And then you could think
Dialogue: 0,0:19:47.36,0:19:58.00,Default,,0000,0000,0000,,of other diseases that are encoded by a\Ncouple of genes, where you can think of
Dialogue: 0,0:19:58.72,0:20:04.24,Default,,0000,0000,0000,,breast cancer over a couple of mutated\Ngenes can give you a much higher risk than
Dialogue: 0,0:20:04.24,0:20:09.20,Default,,0000,0000,0000,,average population. And also in\NAlzheimer's disease, we see that
Dialogue: 0,0:20:11.76,0:20:21.60,Default,,0000,0000,0000,,hereditary component. Brought about by a\Ncouple of genes again and then more
Dialogue: 0,0:20:21.60,0:20:31.52,Default,,0000,0000,0000,,general in terms of unknown diseases, you\Ncan ask gene panels or full genome
Dialogue: 0,0:20:31.52,0:20:38.00,Default,,0000,0000,0000,,sequencing to help out. And it gets more\Nand more fuzzy, but more and more also,
Dialogue: 0,0:20:38.00,0:20:44.96,Default,,0000,0000,0000,,tests are available if you want to go to a\Nprognosis for this or that condition or to
Dialogue: 0,0:20:44.96,0:20:51.68,Default,,0000,0000,0000,,the correct treatment choice. So I'll try\Nand give you a couple of more examples,
Dialogue: 0,0:20:52.80,0:21:02.24,Default,,0000,0000,0000,,but only after we have talked about the\NCancer Genome Atlas, the PCGA . So here
Dialogue: 0,0:21:02.88,0:21:10.96,Default,,0000,0000,0000,,that's also a lot of data. So they claim\N2.5 petabytes were collected in the place
Dialogue: 0,0:21:10.96,0:21:22.32,Default,,0000,0000,0000,,it was running from 2006 to 2014. And\Nyeah, in total, 33 different tumor types.
Dialogue: 0,0:21:22.32,0:21:28.96,Default,,0000,0000,0000,,And they did not only look at the DNA and\Nall the mutations, but also RNA and also
Dialogue: 0,0:21:28.96,0:21:39.84,Default,,0000,0000,0000,,proteins, and also different info on the\Npatient's survival and treatment data. So
Dialogue: 0,0:21:40.56,0:21:48.00,Default,,0000,0000,0000,,that is a huge pool and resource of data\Nwhere people are looking at and finding
Dialogue: 0,0:21:48.64,0:21:55.60,Default,,0000,0000,0000,,signatures of patients with less or more\Nadvanced cancers with patients that
Dialogue: 0,0:21:55.60,0:22:01.36,Default,,0000,0000,0000,,progress through treatment or not. But\Nit's all. Yeah, you still really need to
Dialogue: 0,0:22:01.36,0:22:08.64,Default,,0000,0000,0000,,take it with a pinch of salt because, for\Nexample, since 2006, treatment of cancer
Dialogue: 0,0:22:08.64,0:22:14.64,Default,,0000,0000,0000,,has changed tremendously, and you cannot\Njust use any signature that you took from
Dialogue: 0,0:22:15.52,0:22:22.64,Default,,0000,0000,0000,,the data from PCGA and extrapolate for\Ntoday's cancer patients. So that's a bit
Dialogue: 0,0:22:22.64,0:22:30.72,Default,,0000,0000,0000,,tricky. PCGA still vastly used. But then,\Nyeah, I would propose that you should
Dialogue: 0,0:22:30.72,0:22:39.12,Default,,0000,0000,0000,,rather use it for validation so you find\Nsomething in current data from today's
Dialogue: 0,0:22:39.12,0:22:45.12,Default,,0000,0000,0000,,patients and then you can check whether\Nthis was also seen in the PCGA data and not
Dialogue: 0,0:22:45.12,0:22:57.11,Default,,0000,0000,0000,,the other way around. But let's get to the\Nresults of the poll. See? Can we go there?
Dialogue: 0,0:22:57.11,0:23:21.28,Default,,0000,0000,0000,,What happens? Oh, nice. What's the score?\N7.3 So you mostly agree that full body MRI
Dialogue: 0,0:23:21.28,0:23:30.21,Default,,0000,0000,0000,,is more expensive than the full genome\Nsequencing, which is true. So like I said,
Dialogue: 0,0:23:30.21,0:23:38.88,Default,,0000,0000,0000,,the whole genome is now about 1000 dollars,\Nalso 1000 euros, and the full body scan in
Dialogue: 0,0:23:38.88,0:23:49.60,Default,,0000,0000,0000,,the MRI will cost about two to six\Nthousand euros, roughly. And then this one
Dialogue: 0,0:23:49.60,0:23:58.32,Default,,0000,0000,0000,,with the fingerprints I have made up. So\Nsorry to fool you. This is not done yet.
Dialogue: 0,0:24:00.00,0:24:07.76,Default,,0000,0000,0000,,And it also cannot potentially give you\Nall clinically relevant information about
Dialogue: 0,0:24:07.76,0:24:17.84,Default,,0000,0000,0000,,the patient. So nice. Thank you for\Nparticipating. And also, I check the
Dialogue: 0,0:24:18.64,0:24:23.68,Default,,0000,0000,0000,,survey monkey and also there. I have\Nmanaged to fool some people into believing
Dialogue: 0,0:24:23.68,0:24:32.64,Default,,0000,0000,0000,,that. It's possible to replace\Nfingerprinting with full genome
Dialogue: 0,0:24:32.64,0:24:41.44,Default,,0000,0000,0000,,sequencing, where that's not true. Sorry.\NSo let's go to another level. So not only
Dialogue: 0,0:24:41.44,0:24:46.96,Default,,0000,0000,0000,,the DNA sequencing is interesting. So then\Nyou have the map and on the property,
Dialogue: 0,0:24:47.52,0:24:56.08,Default,,0000,0000,0000,,sorry, on the DNA strand, you know, for\Nexample, where there's a different letter,
Dialogue: 0,0:24:56.08,0:25:04.64,Default,,0000,0000,0000,,if you will. And then in the reference\Ngenome, and then this mutation might be in
Dialogue: 0,0:25:04.64,0:25:11.84,Default,,0000,0000,0000,,one of the regions where the DNA has\Nstored the code for a certain protein like
Dialogue: 0,0:25:11.84,0:25:17.60,Default,,0000,0000,0000,,protein one or protein two. So the code\Nmight be different, but also it might be
Dialogue: 0,0:25:17.60,0:25:26.64,Default,,0000,0000,0000,,different how many copies are made. So\Nthis is an example here where gene one and
Dialogue: 0,0:25:26.64,0:25:33.76,Default,,0000,0000,0000,,two are equally often transcribed. And\Nthen there's these transcripts, which we
Dialogue: 0,0:25:33.76,0:25:41.84,Default,,0000,0000,0000,,call messenger RNA about equal amounts.\NAnd this is, let's say, the state how it
Dialogue: 0,0:25:41.84,0:25:50.08,Default,,0000,0000,0000,,should be in the healthy adult. And if you\Nthink about any condition like a cancer
Dialogue: 0,0:25:50.08,0:25:57.60,Default,,0000,0000,0000,,tumor, then it might get deregulated and\Nthe cancer, for example, then there's this
Dialogue: 0,0:25:58.24,0:26:03.44,Default,,0000,0000,0000,,and only makes very few copies of gene\None. And a lot of copies of gene two,
Dialogue: 0,0:26:04.16,0:26:12.48,Default,,0000,0000,0000,,which might lead to effects like bigger\Ngrowth, faster faster growth, bigger
Dialogue: 0,0:26:12.48,0:26:21.28,Default,,0000,0000,0000,,spread into the tissue, which would\Nnormally confine the tumor. So that is
Dialogue: 0,0:26:21.28,0:26:27.36,Default,,0000,0000,0000,,also one level of regulation and that you\Ncannot usually capture with DNA sequencing
Dialogue: 0,0:26:27.36,0:26:32.88,Default,,0000,0000,0000,,or whole genome sequencing. For that, you\Nneed to check for the expression which you
Dialogue: 0,0:26:32.88,0:26:40.08,Default,,0000,0000,0000,,do on this level, on the RNA level. And\Nthen you have they call in differential
Dialogue: 0,0:26:40.08,0:26:47.60,Default,,0000,0000,0000,,expression, which gives you this kind of\Npicture analysis. So you have some
Dialogue: 0,0:26:47.60,0:26:54.56,Default,,0000,0000,0000,,samples, vertical and then horizontal are\Nthe genes, and you see that if you compare
Dialogue: 0,0:26:54.56,0:27:01.04,Default,,0000,0000,0000,,the samples, some genes are more\Nexpressed, which is red and some genes are
Dialogue: 0,0:27:01.04,0:27:08.24,Default,,0000,0000,0000,,down compared to the others, which is\Ngreen. And then you can find clusters of
Dialogue: 0,0:27:08.24,0:27:15.84,Default,,0000,0000,0000,,genes, a group of genes here in the red\Nbar, where Group one, in that case, a
Dialogue: 0,0:27:15.84,0:27:23.04,Default,,0000,0000,0000,,certain kind of breast cancer is highly\Nupregulated and most of the people I
Dialogue: 0,0:27:23.04,0:27:27.68,Default,,0000,0000,0000,,belong to, group two different kind of\Nbreast cancer have lower expression of
Dialogue: 0,0:27:27.68,0:27:35.60,Default,,0000,0000,0000,,that team and and the blue cluster is the\Nother way around. So that gives you an
Dialogue: 0,0:27:35.60,0:27:42.08,Default,,0000,0000,0000,,idea of OK, you can maybe use one of these\Ngenes to differentiate between the two
Dialogue: 0,0:27:42.08,0:27:47.68,Default,,0000,0000,0000,,groups. And if that helps you to determine\Nwhat treatment they should get, that's of
Dialogue: 0,0:27:47.68,0:27:55.20,Default,,0000,0000,0000,,course, super useful. And then you have\Nsomething like a genetic biomarker. If you
Dialogue: 0,0:27:55.20,0:28:02.64,Default,,0000,0000,0000,,have multiple genes, then you usually call\Nit a signature. And so these genetic
Dialogue: 0,0:28:02.64,0:28:13.12,Default,,0000,0000,0000,,signature tests can tell you, are you at\Nrisk of a certain disease? They can help
Dialogue: 0,0:28:13.12,0:28:22.56,Default,,0000,0000,0000,,diagnose or get to the exact subtype of of\Nyour disease. They can help you with the
Dialogue: 0,0:28:22.56,0:28:28.88,Default,,0000,0000,0000,,correct treatment or monitor whether the\Ndisease actually responds to the
Dialogue: 0,0:28:28.88,0:28:36.00,Default,,0000,0000,0000,,treatment, whether anything changes back\Nto normal. And also, it can sometimes be
Dialogue: 0,0:28:36.00,0:28:44.00,Default,,0000,0000,0000,,useful to give a prognosis for a disease\Nprogression. So in the end, you always
Dialogue: 0,0:28:44.00,0:28:50.08,Default,,0000,0000,0000,,need to wonder what is the added value of\Nsuch kind of testing on top of the
Dialogue: 0,0:28:50.08,0:28:55.04,Default,,0000,0000,0000,,clinical variables that are already\Nexisting and does give you something
Dialogue: 0,0:28:55.04,0:29:02.32,Default,,0000,0000,0000,,actionable? What can you do something with\Nthe knowledge that you gained from this
Dialogue: 0,0:29:02.32,0:29:08.40,Default,,0000,0000,0000,,testing? So there we are already at the\Nproblems with genetic testing. So that
Dialogue: 0,0:29:08.40,0:29:14.88,Default,,0000,0000,0000,,would be the second question that you can\Nanswer again on Simple Vote. Please feel
Dialogue: 0,0:29:14.88,0:29:24.32,Default,,0000,0000,0000,,invited to help me understand what you\Nthink. And here it's just. For you
Dialogue: 0,0:29:24.32,0:29:30.24,Default,,0000,0000,0000,,personally, the question whether you would\Nwant to know whether you are at risk of a
Dialogue: 0,0:29:30.24,0:29:35.76,Default,,0000,0000,0000,,genetic disease and would you want to know\Nif you had to pay for it and then slide it
Dialogue: 0,0:29:35.76,0:29:39.68,Default,,0000,0000,0000,,to the right, if you're willing to pay or\Nslide it to the left, if you're totally
Dialogue: 0,0:29:39.68,0:29:45.20,Default,,0000,0000,0000,,not willing to. And then the second slide\Nis the same question when you want to know
Dialogue: 0,0:29:45.20,0:29:52.40,Default,,0000,0000,0000,,if you got the results for free? And then\Nto the right is yes, and more to the left
Dialogue: 0,0:29:52.40,0:30:00.16,Default,,0000,0000,0000,,is no, absolutely not. So again, I will\Njust move on and you can take your time
Dialogue: 0,0:30:00.16,0:30:08.88,Default,,0000,0000,0000,,answering that one. So to give you a bit\Nof a feeling for what is at stake is the
Dialogue: 0,0:30:08.88,0:30:18.72,Default,,0000,0000,0000,,get WHO into testing for genetic risks.\NIt's, of course, good to know your family
Dialogue: 0,0:30:18.72,0:30:24.72,Default,,0000,0000,0000,,history of disease. And also, if you're\Nplanning to have children, for example,
Dialogue: 0,0:30:24.72,0:30:30.16,Default,,0000,0000,0000,,would you want them to know that they\Npotentially carry a certain risk or not?
Dialogue: 0,0:30:32.40,0:30:39.76,Default,,0000,0000,0000,,Then health or life insurance might have\Nan interest in knowing what people's risks
Dialogue: 0,0:30:39.76,0:30:46.32,Default,,0000,0000,0000,,are, what they have to expect. So there\Nare certain instances where they are
Dialogue: 0,0:30:46.32,0:30:52.40,Default,,0000,0000,0000,,eligible to know and certain instances\Nwhere at this moment in time, they
Dialogue: 0,0:30:52.40,0:30:58.80,Default,,0000,0000,0000,,absolutely are not. So this is something\Nthat's probably going to change in the
Dialogue: 0,0:30:58.80,0:31:05.12,Default,,0000,0000,0000,,future. The more we know, the more we want\Nto use that knowledge. And then there's
Dialogue: 0,0:31:05.68,0:31:11.52,Default,,0000,0000,0000,,the problem that some genes are very often\Nfound to be up and downregulated, and
Dialogue: 0,0:31:11.52,0:31:17.84,Default,,0000,0000,0000,,there seems to be a difference. But it's\Njust yeah, in the nature of those genes,
Dialogue: 0,0:31:18.96,0:31:25.20,Default,,0000,0000,0000,,and we have sometimes multiple signatures\Nfor the same problem. And then, yeah,
Dialogue: 0,0:31:25.20,0:31:32.16,Default,,0000,0000,0000,,doctors and patients just don't know what\Nto choose from. So I'll go through some of
Dialogue: 0,0:31:32.16,0:31:44.64,Default,,0000,0000,0000,,those issues in more detail. I have\Nmentioned the TCGA before, and this cancer
Dialogue: 0,0:31:44.64,0:31:52.08,Default,,0000,0000,0000,,genome atlas is really a limited source\Nthat is now exhausted, but it's still
Dialogue: 0,0:31:52.08,0:32:06.60,Default,,0000,0000,0000,,oftentimes used as the silver bullet. So.\NLet's see if we already have votes. Well.
Dialogue: 0,0:32:10.64,0:32:24.00,Default,,0000,0000,0000,,So that would be. Yes. OK, so if you if\Nyou could know your genetic risk and you
Dialogue: 0,0:32:24.00,0:32:30.16,Default,,0000,0000,0000,,would get it for free, then most people\Nare inclined to say, yes, I would like
Dialogue: 0,0:32:30.16,0:32:36.96,Default,,0000,0000,0000,,that very much. And if they had to pay for\Nit, then it seems to go more towards no,
Dialogue: 0,0:32:36.96,0:32:45.12,Default,,0000,0000,0000,,but it's actually kind of neutral, which\Nwas surprising. Yeah, I would have thought
Dialogue: 0,0:32:45.12,0:32:50.08,Default,,0000,0000,0000,,that you would all say, no, I don't want\Nto know. But that was just my assumption,
Dialogue: 0,0:32:50.08,0:32:59.84,Default,,0000,0000,0000,,and I was apparently wrong. Cool, thank\Nyou. Poll number three third question is
Dialogue: 0,0:32:59.84,0:33:07.76,Default,,0000,0000,0000,,about a commercially available DNA test,\Nwhich is not actually sequencing, but they
Dialogue: 0,0:33:07.76,0:33:14.72,Default,,0000,0000,0000,,use a panel of mutations that are now\Nknown because we have already sequenced
Dialogue: 0,0:33:15.52,0:33:22.64,Default,,0000,0000,0000,,thousands and nearing a million complete\Nfull genomes. And yeah, I was wondering
Dialogue: 0,0:33:23.44,0:33:31.44,Default,,0000,0000,0000,,whether you would know. So that's quite a\Nnumber three. What institutions they
Dialogue: 0,0:33:31.44,0:33:37.28,Default,,0000,0000,0000,,partner up with. So this DNA test is goal\N23 and me. And if you don't know what it
Dialogue: 0,0:33:37.28,0:33:45.52,Default,,0000,0000,0000,,is, then there's also an answer option for\Nthis one. No clue what it is. It does. And
Dialogue: 0,0:33:45.52,0:33:52.48,Default,,0000,0000,0000,,for the rest, yeah, I propose that they\Nwork together with Broad Institute, that
Dialogue: 0,0:33:52.48,0:33:59.28,Default,,0000,0000,0000,,they work together with GlaxoSmithKline,\NGSK and they got 300 million US dollars
Dialogue: 0,0:33:59.28,0:34:05.36,Default,,0000,0000,0000,,from them, that they work together with\Ngeneral practitioners in the US, that they
Dialogue: 0,0:34:05.36,0:34:13.68,Default,,0000,0000,0000,,got subsidy from Google 4 million US\Ndollars or and Amazon 9 million US
Dialogue: 0,0:34:13.68,0:34:20.88,Default,,0000,0000,0000,,dollars. So, OK, let's see what you think\Nor how many of you don't know the text.
Dialogue: 0,0:34:23.52,0:34:32.08,Default,,0000,0000,0000,,And in the meantime, I'll present two\Ncases to you, where genetic testing would
Dialogue: 0,0:34:32.96,0:34:38.80,Default,,0000,0000,0000,,play a role like, for instance, in the\Ncase of inhealthy adult, where the dad was
Dialogue: 0,0:34:38.80,0:34:44.08,Default,,0000,0000,0000,,diagnosed with this heart condition,\Nhypertrophic cardiomyopathy, where the
Dialogue: 0,0:34:44.08,0:34:50.88,Default,,0000,0000,0000,,heart tissue gets scars and at some point\Nit cannot pump properly anymore. And so if
Dialogue: 0,0:34:50.88,0:34:56.64,Default,,0000,0000,0000,,you have one parent with that disease, you\Nhave a 50 percent risk that you have
Dialogue: 0,0:34:56.64,0:35:03.60,Default,,0000,0000,0000,,inherited those genes from your parents.\NSo this healthy adult and their siblings
Dialogue: 0,0:35:03.60,0:35:14.88,Default,,0000,0000,0000,,got the offer to get tested. So the costs\Nare covered by the health insurance, but
Dialogue: 0,0:35:15.44,0:35:23.52,Default,,0000,0000,0000,,there is no cure for this condition. So\Nyou can. Yeah, have a stricter
Dialogue: 0,0:35:23.52,0:35:29.12,Default,,0000,0000,0000,,surveillance, and you can get access to\Nearly treatment if you develop symptoms,
Dialogue: 0,0:35:29.12,0:35:36.64,Default,,0000,0000,0000,,but yeah. Other than that, yeah, it's\Nstill just a risk gene. So to say so if
Dialogue: 0,0:35:36.64,0:35:41.12,Default,,0000,0000,0000,,you know you have the gene, it doesn't\Nmean you will get the disease. It just
Dialogue: 0,0:35:41.12,0:35:47.44,Default,,0000,0000,0000,,means you have an elevated risk. So it's\Nreally hard to grasp. And this is one case
Dialogue: 0,0:35:47.44,0:35:54.48,Default,,0000,0000,0000,,where at least in the Netherlands, the\Nlife insurance would be eligible to know
Dialogue: 0,0:35:54.48,0:36:01.92,Default,,0000,0000,0000,,if you got tested and you do have that\Ngene. So in the end, this person said, No,
Dialogue: 0,0:36:01.92,0:36:08.72,Default,,0000,0000,0000,,no test, please. I will just go see a\Ncardiologist every now and then, have it
Dialogue: 0,0:36:08.72,0:36:14.48,Default,,0000,0000,0000,,checked nonetheless. But I don't want to\Nknow if I have those things OK. A second
Dialogue: 0,0:36:14.48,0:36:27.04,Default,,0000,0000,0000,,case? Yeah. So that's an infant delayed in\Ndevelopment. It was still a bit fuzzy.
Dialogue: 0,0:36:27.04,0:36:34.56,Default,,0000,0000,0000,,Like what should an infant be able to do\Nor not do at the age of one? But then the
Dialogue: 0,0:36:34.56,0:36:44.48,Default,,0000,0000,0000,,parents started observing seizures in the\Nin that case, it was absences, so it was
Dialogue: 0,0:36:44.48,0:36:53.04,Default,,0000,0000,0000,,not cramping, but just very absent. So\Neventually, they got access to tests,
Dialogue: 0,0:36:53.04,0:36:59.84,Default,,0000,0000,0000,,genetic tests where distinct genes were\Nanalyzed. Nothing was found. Then panels
Dialogue: 0,0:36:59.84,0:37:05.36,Default,,0000,0000,0000,,of genes with increasing size and nothing\Nwas found. And then the whole genome
Dialogue: 0,0:37:05.36,0:37:13.52,Default,,0000,0000,0000,,sequencing was done. And then you always\Nhave to compare to the parents. And
Dialogue: 0,0:37:13.52,0:37:22.40,Default,,0000,0000,0000,,essentially, parents and child who trust\Nthat and the child had a mutation in a
Dialogue: 0,0:37:22.40,0:37:29.68,Default,,0000,0000,0000,,gene where the parents had nothing and it\Nwas just the very rare X-linked mutation.
Dialogue: 0,0:37:30.32,0:37:39.52,Default,,0000,0000,0000,,And eventually they now know what is going\Non, which was only due to the possibility
Dialogue: 0,0:37:39.52,0:37:47.36,Default,,0000,0000,0000,,of whole genome sequencing. And in the\Nend, the parents also said, Yes, I want to
Dialogue: 0,0:37:47.36,0:37:53.04,Default,,0000,0000,0000,,know what else is found in this whole\Ngenome sequencing. So that isn't actually
Dialogue: 0,0:37:53.60,0:38:03.84,Default,,0000,0000,0000,,case free, where one of the parents is the\Ncarrier of a mutation in a in a protein,
Dialogue: 0,0:38:04.56,0:38:14.24,Default,,0000,0000,0000,,that when it's faulty or when you get a\Nfaulty version from both parents, then you
Dialogue: 0,0:38:14.24,0:38:19.52,Default,,0000,0000,0000,,will develop this condition. Cystic\Nfibrosis. So that is really good to know
Dialogue: 0,0:38:20.64,0:38:26.80,Default,,0000,0000,0000,,when you are a carrier of this and also\Nyour future kids can get tested to see
Dialogue: 0,0:38:26.80,0:38:35.44,Default,,0000,0000,0000,,whether they got this faulty version\Nfrom you. So let's have a look at the poll
Dialogue: 0,0:38:35.44,0:38:48.48,Default,,0000,0000,0000,,number three. This is here. So the DNA\Ntest 23 and me. Let's see where's the. I
Dialogue: 0,0:38:48.48,0:38:55.44,Default,,0000,0000,0000,,have no clue what this test is. So this is\Njust a four. OK, so not that many people
Dialogue: 0,0:38:57.68,0:39:07.84,Default,,0000,0000,0000,,voted for this one. Twenty nine votes. Oh,\Nwell, actually. Twenty nine votes. And
Dialogue: 0,0:39:07.84,0:39:20.08,Default,,0000,0000,0000,,then what you thought it would do. So\Nyou'll have here, you approve of it,
Dialogue: 0,0:39:20.08,0:39:25.20,Default,,0000,0000,0000,,working in conjunction with general\Npractitioners in the U.S., which is not
Dialogue: 0,0:39:25.20,0:39:32.40,Default,,0000,0000,0000,,true. Sorry. Yes, it did get subsidy from\NGoogle, 4 million US dollars in the
Dialogue: 0,0:39:32.40,0:39:43.84,Default,,0000,0000,0000,,very beginning. No, no, no. Sanger\Nsequencing Yes. GSK 300 million. They want
Dialogue: 0,0:39:43.84,0:39:52.80,Default,,0000,0000,0000,,to use their data to find new drug\Ntargets. And I also made this one up. So
Dialogue: 0,0:39:52.80,0:40:00.56,Default,,0000,0000,0000,,Amazon did not give any money to 23 and\Nme, but you can order through Amazon. So
Dialogue: 0,0:40:00.56,0:40:13.60,Default,,0000,0000,0000,,that's possible. OK, thank you. And I'll\Nthink I will wrap up after just presenting
Dialogue: 0,0:40:15.12,0:40:21.76,Default,,0000,0000,0000,,this problem here quickly. So breast\Ncancer is one of the pioneering fields of
Dialogue: 0,0:40:21.76,0:40:30.08,Default,,0000,0000,0000,,genetic testing. So you have five\Ncommercially available tests that can tell
Dialogue: 0,0:40:30.08,0:40:35.76,Default,,0000,0000,0000,,you what type you have, what treatment\Noptions would be best for you and what
Dialogue: 0,0:40:35.76,0:40:42.48,Default,,0000,0000,0000,,your prognosis is. So you really need a\Nwell-informed team of doctors if you want
Dialogue: 0,0:40:42.48,0:40:51.04,Default,,0000,0000,0000,,to make use of this. OK, I'll skip a few\Nslides. Mean, validation is important.
Dialogue: 0,0:40:51.04,0:40:57.04,Default,,0000,0000,0000,,Takes a lot of time. And I think in the\Nfuture, it's not only going to be a whole
Dialogue: 0,0:40:57.04,0:41:03.28,Default,,0000,0000,0000,,genome sequencing, but there will be a lot\Nmore to it, like the immune system and
Dialogue: 0,0:41:03.28,0:41:10.11,Default,,0000,0000,0000,,your gut microbiome and everything, which\Nis in there is also, of course, influenced
Dialogue: 0,0:41:10.11,0:41:16.90,Default,,0000,0000,0000,,by outside factors what you eat, how much\Nsunlight you get, how much you move. So
Dialogue: 0,0:41:16.90,0:41:23.64,Default,,0000,0000,0000,,this is also already available, this data\Nfrom your smart watch, for example. So I
Dialogue: 0,0:41:23.64,0:41:30.04,Default,,0000,0000,0000,,think in the end, if we get to\Npersonalized medicine, this will also play
Dialogue: 0,0:41:30.04,0:41:36.88,Default,,0000,0000,0000,,a role. And to recap, if you sequenced the\Nwhole genome, this is not the same as
Dialogue: 0,0:41:36.88,0:41:43.56,Default,,0000,0000,0000,,ordering any tests online, where you also\Nmight run into data security issues with
Dialogue: 0,0:41:43.56,0:41:52.33,Default,,0000,0000,0000,,tests like 23 and me. And that's also not\Nthe same a deceases signature. And then, yeah,
Dialogue: 0,0:41:52.33,0:41:59.36,Default,,0000,0000,0000,,if you have a new cool diagnostic\Nsignature that is published, it might
Dialogue: 0,0:41:59.36,0:42:05.54,Default,,0000,0000,0000,,still take a long time and couple of\Nvalidation studies before it actually
Dialogue: 0,0:42:05.54,0:42:12.88,Default,,0000,0000,0000,,enters the everyday clinic and you get it\Nreimbursed from your health insurance. And
Dialogue: 0,0:42:12.88,0:42:19.44,Default,,0000,0000,0000,,for this, it also needs very well trained\Nphysicians and informed patient and
Dialogue: 0,0:42:19.44,0:42:27.24,Default,,0000,0000,0000,,family. I think there's no way in stopping\Nthis. But that's just my take. So we will
Dialogue: 0,0:42:27.24,0:42:35.10,Default,,0000,0000,0000,,see a lot more from the molecular side of\Nthings in the future, and these are also
Dialogue: 0,0:42:35.10,0:42:42.41,Default,,0000,0000,0000,,to be retrieved online. So everything all\Nthe tests that are registered also you can
Dialogue: 0,0:42:42.41,0:42:47.76,Default,,0000,0000,0000,,filter for countries, for Germany, for\Nexample. And then you see even which
Dialogue: 0,0:42:47.76,0:42:55.79,Default,,0000,0000,0000,,university clinic offers which kind of\Ntesting. And if you ever hear the term
Dialogue: 0,0:42:55.79,0:43:03.40,Default,,0000,0000,0000,,liquid biopsy, that's usually a black\Nsample where, yeah, all kinds of things
Dialogue: 0,0:43:03.40,0:43:09.20,Default,,0000,0000,0000,,are measured, so you have DNA in there,\Nbut you also have metabolites in there,
Dialogue: 0,0:43:09.20,0:43:15.64,Default,,0000,0000,0000,,you can have little fragments of cancer\Ncells and cancer derived DNA. So this is
Dialogue: 0,0:43:15.64,0:43:21.88,Default,,0000,0000,0000,,something that's coming forward more and\Nmore that you just need a blood draw. And
Dialogue: 0,0:43:21.88,0:43:29.37,Default,,0000,0000,0000,,then, yeah, you have a lot of insight, not\Nonly the whole genome, but even more RNA
Dialogue: 0,0:43:29.37,0:43:37.52,Default,,0000,0000,0000,,sequencing data, for example. So thank you\Nvery much for inviting me, for listening,
Dialogue: 0,0:43:37.52,0:43:48.66,Default,,0000,0000,0000,,and I'm happy to take your questions now.\NHerald: It's again, the social media
Dialogue: 0,0:43:48.66,0:43:55.04,Default,,0000,0000,0000,,hashtags on Mastodone and Twitter \NRC3ChaosZone without a dash and then on
Dialogue: 0,0:43:55.04,0:44:01.03,Default,,0000,0000,0000,,IRC unchecked, and the channel is RC3\Nwith a dash. Chaos Zone.
Dialogue: 0,0:44:01.03,0:44:05.66,Default,,0000,0000,0000,,Lisette: Do we already have any specific\Nquestions?
Dialogue: 0,0:44:05.66,0:44:10.66,Default,,0000,0000,0000,,Many think people would like to know.\NHerald: And targeted gene modification
Dialogue: 0,0:44:10.66,0:44:16.93,Default,,0000,0000,0000,,with CRISPR and Cas9 is not even allowed\Non plants and animals in the EU. Do you
Dialogue: 0,0:44:16.93,0:44:21.15,Default,,0000,0000,0000,,think there will ever be gene therapy for\Nhumans?
Dialogue: 0,0:44:21.15,0:44:35.36,Default,,0000,0000,0000,,Lisette: There was gene therapy. So, for\Nexample. I'm not sure whether it was a
Dialogue: 0,0:44:35.36,0:44:45.44,Default,,0000,0000,0000,,typo, low key a or an immune defect where\Nthey tried to cure children with gene
Dialogue: 0,0:44:45.44,0:44:50.28,Default,,0000,0000,0000,,therapy, so there were clinical trials,\Nbut something went horribly wrong, and I
Dialogue: 0,0:44:50.28,0:45:01.04,Default,,0000,0000,0000,,think actually one of the children\Nsuffered so much from how they inserted
Dialogue: 0,0:45:01.04,0:45:10.56,Default,,0000,0000,0000,,the gene that it developed a type of\Ncancer. But I'm still hesitant to say that
Dialogue: 0,0:45:10.56,0:45:18.48,Default,,0000,0000,0000,,this is the end of gene therapy. So it has\Npotential in very severe cases where
Dialogue: 0,0:45:18.48,0:45:24.96,Default,,0000,0000,0000,,there's no other option. But yes, it's\Nalso true that we don't really know what
Dialogue: 0,0:45:24.96,0:45:31.36,Default,,0000,0000,0000,,we're doing at the moment. So there's a\Nlot more research needed to make sure that
Dialogue: 0,0:45:31.36,0:45:38.00,Default,,0000,0000,0000,,there's no off target effects if you cut\Nout a gene and put in a new sequence. So,
Dialogue: 0,0:45:38.00,0:45:45.28,Default,,0000,0000,0000,,yeah, no, I don't think we can guarantee\Nthat as of yet, but it's it's not
Dialogue: 0,0:45:45.28,0:45:48.89,Default,,0000,0000,0000,,unthinkable.\NHerald: All right. Huh, interesting.
Dialogue: 0,0:45:48.89,0:45:56.77,Default,,0000,0000,0000,,Sounds like the technology isn't there yet\Nfor a couple of years or decades.
Dialogue: 0,0:45:56.77,0:46:03.10,Default,,0000,0000,0000,,Lisette: Oh, well, I think the technology\Nis there, it's just not secure enough.
Dialogue: 0,0:46:03.10,0:46:08.28,Default,,0000,0000,0000,,Herald: All right. I see.\NLisette: So, yeah, it's done in the lab
Dialogue: 0,0:46:08.28,0:46:14.79,Default,,0000,0000,0000,,big time, but then we don't usually use\Nhumans. Only a cell line or yeah.
Dialogue: 0,0:46:14.79,0:46:23.20,Default,,0000,0000,0000,,Something that is easy to control.\NHerald: All right. Um, and then a dynamic
Dialogue: 0,0:46:23.20,0:46:31.42,Default,,0000,0000,0000,,methods for tests, for example, for\Ndiseases such as COVID, our target
Dialogue: 0,0:46:31.42,0:46:41.44,Default,,0000,0000,0000,,tests, for example, the PCR test. Do you\Nthink now the testing for infections might
Dialogue: 0,0:46:41.44,0:46:46.40,Default,,0000,0000,0000,,shift to be more exploratory approaches,\Nfor example, through sequencing instead of
Dialogue: 0,0:46:46.40,0:47:00.54,Default,,0000,0000,0000,,targeted PCR?\NLisette: Yeah, that depends if you have a
Dialogue: 0,0:47:00.54,0:47:05.61,Default,,0000,0000,0000,,suspicion that the infection has reached\Nthe bloodstream and you're close to
Dialogue: 0,0:47:05.61,0:47:11.85,Default,,0000,0000,0000,,sepsis, then it might be your last resort\Nto make a hole. Yeah. Just sequence
Dialogue: 0,0:47:11.85,0:47:18.05,Default,,0000,0000,0000,,everything that is in the blood, but then\Nyou need to be, of course, aware that the
Dialogue: 0,0:47:18.05,0:47:23.06,Default,,0000,0000,0000,,majority will be human, so you need to\Nfilter out a lot. And then what is left,
Dialogue: 0,0:47:23.06,0:47:29.45,Default,,0000,0000,0000,,you might be able to map to a certain\Nmicrobe genomes, which are also pretty
Dialogue: 0,0:47:29.45,0:47:38.29,Default,,0000,0000,0000,,well annotated. So I'm not sure about\Nnasal swabs or something like that, where
Dialogue: 0,0:47:38.29,0:47:46.96,Default,,0000,0000,0000,,you can find out which flu you have\Nreceived. So that doesn't really make too
Dialogue: 0,0:47:46.96,0:47:54.28,Default,,0000,0000,0000,,much sense to me unless you have a good\Ntreatment options. But for example,
Dialogue: 0,0:47:54.28,0:48:02.100,Default,,0000,0000,0000,,tuberculosis is one disease where if you\Ndo sequence the germs now more and more
Dialogue: 0,0:48:02.100,0:48:10.55,Default,,0000,0000,0000,,because a lot of strains of these bacteria\Nhave multiple antibiotic resistances.
Dialogue: 0,0:48:10.55,0:48:17.64,Default,,0000,0000,0000,,And then if you start treating with the\Nwrong antibiotics, you are really screwed.
Dialogue: 0,0:48:17.64,0:48:24.53,Default,,0000,0000,0000,,So there, yeah, it's already well-\Nestablished that the university clinics at
Dialogue: 0,0:48:24.53,0:48:29.37,Default,,0000,0000,0000,,least sequenced the strains before the\Npatient gets treatment.
Dialogue: 0,0:48:29.37,0:48:37.52,Default,,0000,0000,0000,,Herald: Interesting, yes. Sounds very\Ncool. All right. Thank you so much,
Dialogue: 0,0:48:37.52,0:48:42.08,Default,,0000,0000,0000,,Lisette. Very inspiring.\NLisette: You are welcome.It was a
Dialogue: 0,0:48:42.08,0:48:50.00,Default,,0000,0000,0000,,pleasure. I hope I could convey the\Nmessage. Just be aware of, yeah, your
Dialogue: 0,0:48:50.00,0:48:56.08,Default,,0000,0000,0000,,genes and your data. So yeah, that's\Nthat's just there's a lot of potential in
Dialogue: 0,0:48:56.08,0:49:00.80,Default,,0000,0000,0000,,there. But of course, we shouldn't be. We\Nshould not be careless.
Dialogue: 0,0:49:00.80,0:49:04.80,Default,,0000,0000,0000,,Herald: So, yes, definitely.\NLisette: That's all from my side. Thank
Dialogue: 0,0:49:04.80,0:49:09.02,Default,,0000,0000,0000,,you.\NHerald: Thank you so much.
Dialogue: 0,0:49:09.02,0:49:16.00,Default,,0000,0000,0000,,{\i1}rc3 postroll music{\i0}
Dialogue: 0,0:49:18.62,0:49:22.51,Default,,0000,0000,0000,,Subtitles created by c3subtitles.de\Nin the year 2022. Join, and help us!