The Human Genome can be used to master Diagnostics of disease. The greek philosopher Socrates gave some famous advice, Know Thyself, but just how well do you ewant to know yourself in the age of personal genomics? A few years from noiw, you might boot up your tablet to find a life-changing report, a report on your own personal genetic code. Of the thousands of genees that spell out your body’s instructiovns, your genes will reveal yopur risks for one disease after another. Those you may get yourself, and those you may pass onto your children? How would it feel to have this information? You may find out sooner than your think. Genomics allows us to look in the most precise way at what the causes of illeness are and how to prevent and treat illenesses with that information. cost to sequence my genome at illumina ios close to 1000 dollars today. 15 years earlier it cost 2.7 billion. so what will it cost 15 years form now? Will it be a common procedure for a medical checkup? We now have that opportunity in front of us. One that predicts risk, so you can stop diseases before they appear, if theres a way of stopping them. But what if you can’t, what if you have a gene m,utation that says doesnt matter how you live your life, doesn’t matter what drugs you take, you will get this disease and probably befroe you are 50 years old. Not everybody can handle genetic testing/sequencing. This information affects the way you live the rest of your life, or, it could give you enough time to mobilize an effort to cure it. They will take a bit of your blood, then it arrives at illumina, one of the small handful of companies that reads and sequences genomes. In the lab, the blood is processed to extract the genetic material. As proteins and fats are washed away , delicate fibers clump together, this is DNA, life’s master molecule. Next, The DNA is then sheared into fragments, making it easier to sequence. It is such a complex task that sequencing the first human genome took 13 years, 3 billion dollars, and hundreds of scientists. When the first draft was finished in 2000, it was hailed as one of humanity’s great achievements. These are the instructions that tells you how to go from a single cellto a full gornw organism. All these genes, the recipies for proteins, are written in the exact same language with a 4 letter alphabet. 4 chemicals, A T C and G. Stings of these letters spell out 20,000 genes on 23 pairs of chromosomes. Genes code for protiens, molecules that do most of the work in our cells and build parts of our body from muscles to hair. If DNA is copied incorrectly, it gets damaged, spelling errors called mutations come up. When you mutate a gene it won’t make the correct protein and cause a disease. And that’s what thtese scientists will search for. A handful of companies meet the demand, they don’t offer ghenome sequencing yet, more of an economy class genome scan via chip hybridization. One of the best known is the silicon valley startup 23 and me. Human genomes are 99.9 percent identical, we’re even 98% identical to chimps. But analyzing your DNA will show you that 1% and how many variants you have in your genes that could put you at risk. However, genotyping is not DNA sequencing, genotyping is equivalent to looking at 100 pages in a 600 page novel and saying you understand Tolstoy. There’s something called an odds calculator, that gicves you the probability of contracting a disease. Almost all the evidence is not hard determining factors. Given such concrens, critics suggest that genetic information should only come from a medical professional. Problem is that companies look at different parts of genes and often have an incomplete set. “Oh i don’t have a cardiac problem, so ill go out and heat mcdonalds everyday” There are all sorts of ethical decisions that result from that, information is always hard to handle. A gene on chromosome 19 called APOE4 has been associated with late onset alzheimers, the leading cause of dementia in the elderly. The variant increases one’s risk 3 to 10 fold. Can you convert this into a lifetime risk? No you can’t, because other genes work with this. Yet, many people with APOE4 never get alzheimers. Genetics is not wholly deterministic, the vast majority is largely probablistic. In case of a gene mutation that guarantees a gene, in that case there’s no hope, if you get the wrong answerm it’s somewhat of a death sentence. But if you get tested and your family does not want to know, knowing has had reprecussions, dates who disapeer, relatives who won’t speak to you, since they’d have to confront their own genetic status. By nature of the fact that you have tested, you are revealing this information to people who may not want to know. What if you wanted to have children, would the government ban you if you carry a risk gene? While some genetic information is doomsaying, genes like BRCA-1 a gene for cbreast cancer is a so called actiuonble gene, a gene where if you know the patient has the varient, you can actually counsel them on things that will improve their wellness. One of these variants causes deadly blood clots. If you learned about the variants as a healthy adult that you carried a risk gene for early onset heart dioseases, this could change your life, you might change your diet and activity and lifestyle, you might start investing in defibrilator machines for your home or your workplace. If you have a gene for colon cancer, you might choose to get a colonoscopy immediately and they’d catch it befor eit could do real damage. You can prevent the disease before it strikes. but this only works for diseases wer know the cause of, there are many unknown genes that still cause diseases. Right now it costs over 5000 dollars to sequence your genome at illumina, so you might want to opt for the cheaper option of genotyping or chip hybridization at 23 and Me. Hopefully one day, the technology of illumina will get increasingly cheaper to the point where it can be affordable. The more advanced machines can cost 2000$ per gigabyte of data.

Genetic sequencing at birth may have it’s downside, one of my concerns is the testing of children raises the question of stigmatization “I’m not gonna let mary play soccar because she has cardiac risk”, it’s about the invasion of privacy.

One of the implications of this new genetic knowledge is that we’re going to start thinking of ourselves more in genetic terms than we ever have before. Do we want to date them, what his genetics what’s her genetics. What if we can google it? There’s always been a tendancy to engage in deterministic genetics. We are deeply genetically deterministic and are affected by the food we eat, the air we breath by epigenetics that shape our lives. This raises the real question of privacy too, what if a company asks to use your DNA for research, promising you’ll remain anonym ous, the question is whether anonymous information is really anonymous just because they take your name and soc security number off. Perhaps in the future you might not even need a social security number or even a name, because your genetic will reveal you so precisely that we’ll have to develop a whole new definition of what we mean by anonymity. What if you’re at risk for an incurable diseasee? Say Alzheimers? Can a company that sells longterm care insurance ask you about that and tcan they use that result to either affect your premium or deny you insurance entirely because you’re such a bad bet? In fact, in most states the law already allows longterm care, disability, and life insurers to discriminate based on genetics. I would not make one single base pair of my DNA sequence available publically in a million years, there’s too much risk, you don’t know whats going to happen in the future with insurance, and think about your company going down the tubes so you have to get a new job. Yet they happen to find your DNA, they might decide refusiong to interview you. Everywhere you go you leave a trail of genetic debris, when you cut your hair, eat at a resteraunt, a crime that once seemed like science fiction has now become possible with cheap fast DNA sequening. It’s called genomic hacking, it will be frightful, it will be used to impune people “he shouldn’t be a candidate for the presidency, because he has the gene for depression”. If somebody wants access to your genome for personal romantic interest, for economic reasons, for political reasons, if they want tit they’ll go after it, even hiring genetic theives on the black market to find a trace of your DNA. Even just a skin cell from dandruff would be enough.

How can we balance the risks and benefits? This will soon be a question for all of us, as we confront the ancient challenge, know thyself, in the genome age.

Last year the white house began the so called “Precision Medicine Initiative” and about 40 organizations are plitting more than 200 million dollars to make it happen. So what is precision medicine? Its based on the idea that diseases work differently in different people depending on their genetics, environment, and lifestyle. If we know that some genes affect how diseases respond to treatment, then doctors can use that information to help pick the right rtreatment for a patient based on their genetic code. Doctors are already using this approach on cancer cells, which have genetic mutations that allown them to grow and spread, specific mutations can affect how the cancer will respond to certain treatments. So doctros can test for those mutations. As genetic testing gets easier and cheaper the testes are being done more and more often. But there’s more information we could be getting out of genetic testing, we just dont know about it yet. The initivative needs data, they need access to the genomes of lots and lots of people so they can look for associations between genetics, diseases, and treatments. Some organizations involved in the initiative are devloping plans to collect as much genetic data as possible with patient’s consent. By 2019 they’re aiming to have a database with the sequenced genomes of at least a million americans. Hopefully all that new information will help them figure out which treatments will work best for which people and maybe develop some new ones.

FIRST SYNTHETIC GENOME BY 2026?

  • A human genome contains 3 billion base pairs, one project is seeking to write a complete human genome, besting current efforts able to produce 1 million pairs.
  • The researchers are looking to the future in hopes that their work will spur even further growth in science and technology.

A ‘GRAND CHALLENGE’

It’s been decades since the Human Genome Project was launched, a project which sought to map the entirety of the DNA structure of a human genome. With its success in 2003 came a myriad of advances in the field of medicine and biotechnology. Now, scientists want to write the first human genome by 2026.

Writing the human genome comes with its own set of challenges. Autodesk Fellow Andrew Hessel, speaking at Singularity University’s Exponential Medicine 2016 says that while some organizations have been writing DNA, they are only able to produce a million-pair DNA constructs, a far cry from a human genome’s 3 billion pairs. “This is really hard work…trying to go from DNA to packaged chromosome put into a cell and functional is hard. I don’t want to gloss over the technical challenges,” Hessel said.

This projects stands to become one of the most ambitious projects in the field of synthetic biology. Previously, the most advanced development the field has seen was the creation of the yeast genome. “It took a year to design the yeast genome, even though there were barely any changes made to [it]. So, we need better design tools,” Hessel said.

Andrew Hessel Credit: Exponential Medicine
Andrew Hessel Credit: Exponential Medicine

INSPIRING CONFIDENCE

Writing the human genome not only benefits the field of synthetic biology. It could also benefit in fields ranging from medicine to electronics. This is ample motivation to develop more efficient tools that speed up the completion of the project.

While 2026 may seem a bit too early, Hessel is confident that the time frame is enough if synthetic biology develops exponentially like how the Human Genome Project did.

When asked about the ethical implications of the project like the creation of synthetic babies, Hessel says, “We couldn’t advocate that.” It seems that his motivation stems more from the scientific and medical advancements that could come after such a feat as this. “I’m doing this because I want my daughter to literally have the best nanomedicine in the future, the best diagnostics, the best treatments.”

SYNTHETIC GENOMES

DNA is essentially a stream of information composed of chunks of chemicals. It isn’t unreasonable to think that, someday, humans will be able to create synthetic DNA, composed of hand-built genes – and a team of scientists have just publicly announced that this is exactly what they plan to do.

In just the last couple of years, researchers have designed synthetic bacteria with laboratory-manufactured genes, and they are well on their way to doing the same with yeast, which is a far more complex beast to replicate.

Synthetic human DNA is more complex still – magnitudes more so – but 200 of the world’s leading researchers on the subject have told reporters that they are kick-starting an initiative to investigate the viability of such a monumental task.

Described as a sequel to the famous Human Genome Project (HGP), which spent 13 years mapping the entire human genome, they claim that this is the next logical step. The new project, entitled Genome Project-write (GP-write), will require $100 million in funding.

They first published a paper in the journal Science on the subject back in 2016, around the time they had an initial and unusually secret meeting about it. An upcoming gathering in New York City that will feature intense discussions over how to proceed is already raising tensions within and outside of the scientific community.

Much in the way the gene-editing tool CRISPR causes controversy, with some suggesting that designer babies will become inevitable as a consequence, synthetic human DNA is putting the idea of designed humans in people’s minds.

“We have a four- to five-year period where there can be plenty of time for debate about the wisdom of that,” Jef Boeke, a biochemist from NYU Langone Medical Center and one of GP-write’s coordinators, told CNBC News. “Whenever it’s human, everyone has an opinion and wants their voice to be heard. We want to hear what people have to say.”

If the project is successful, it will send shockwaves through the scientific community. Gio.tto/Shutterstock

The group plan to synthesize the genomes of simpler organisms first. Some of the group are actually involved in the aforementioned synthetic yeast genome study, so it’s safe to say they’re progressing incredibly rapidly towards their ultimate goal in a fairly short space of time.

The team are so confident of their scientific know-how that they boldly claim synthetic human DNA is just five years away from being a reality.

Not only that, but they are hoping it’ll be quite cheap to manufacture. Right now, it costs about $0.1 to synthesize a single base pair (a key structural element of DNA). We have 3 billion of these, which means synthesizing all of them costs $300 million. The team want to cut this down to $300,000.

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