According to Fran Smith an independent writer for Nat Geo Magazine, feels that personalized medicine is our future. The following is an excerpt from the article “How personalized medicine is transforming your health care: Stunning advances in gene research and data mining will predict diseases and devise treatments tailored to each of us.”
Twelve years after Teresa McKeown beat stage 3 breast cancer with a brutal regimen of chemotherapy and a double mastectomy, the disease returned, more aggressively than before. This time chemotherapy failed. Day after day, she sat in a chair in her living room, too sick to move. She kept four journals, one each for her husband and her three grown children, and mustered the strength to write her thoughts about a future she didn’t expect to share.
She withered to 98 pounds because tumors in her bowel made it almost impossible to eat. McKeown is not one to rage or panic, but before surgery to remove the blockage, she made a rare admission of anguish. “I am so praying that if things are not going to end well for me or there is a complication following this surgery, that I just pretty quickly pass away,” she recalled telling her older daughter. “I don’t know how much more pain I can tolerate.”
Desperate and determined, she asked her surgeon, Jason Sicklick, if he knew of any experimental treatments that might buy her more time. As it happened, he is a co-leader of a study at the cutting edge of what’s come to be called precision, or personalized, medicine.
The approach, built on advances in gene research and data analytics, holds transformative possibilities for cancer treatment and could upend the way medicine traditionally has been practiced. Rather than lump patients together under broad categories of diseases, precision medicine aims to tailor prevention, diagnosis, and treatment to a person’s unique biochemical makeup.
McKeown joined I-PREDICT, a precision cancer study at the University of California, San Diego-affiliated Moores Cancer Center. Researchers there don’t rely on any particular therapy. Instead they analyze the DNA in a patient’s cancer cells. Using special algorithms, a computer then scours data on thousands of gene variants, hundreds of anticancer drugs, and millions of drug combinations to find the treatment that best targets the tumor’s abnormalities. It may be a new immunotherapy, old-line chemotherapy, hormonal therapies, or drugs that aren’t specifically approved for cancer.
“It’s a very simple principle,” said Razelle Kurzrock, an oncologist and director of the Moores Center for Personalized Cancer Therapy. “You pick the right drugs for each patient based on the tumor profile, not based on a part of the body or based on what type of cancer 100 other people have. It’s all about that patient sitting in front of me.”
McKeown’s tumors were riddled with different mutations. “These are the kinds of patients we used to hang our heads and feel sorry for,” Kurzrock said. But they’re among the best candidates for a new class of immunotherapies called checkpoint inhibitors. The drugs prevent tumor-made proteins from binding to immune cells and shutting them down, which restores the patient’s ability to fight the cancer. More mutations mean the reactivated immune cells have more targets to attack and eradicate.
I-PREDICT matched McKeown with nivolumab, a checkpoint inhibitor approved for advanced melanoma, kidney cancer, and certain lung cancers but not for breast cancer. After two infusions, the tumor markers in her blood declined by more than 75 percent. Four months later, after additional infusions, tests detected no evidence of cancer.
On a hot summer day, a year and a half after she entered the trial, McKeown, 57, showed me around her garden in Valley Center, California. It’s a three-acre expanse of lawns, blooming trees, and rosebushes of red, white, lavender, orange, and brilliant yellow nestled, improbably, amid the parched, scrub-covered hills.
“I just feel so grateful,” she said. “I love this whole notion of individualized medicine. I love that they’re figuring out what’s causing that mutation and how to target it, as opposed to chemo that’s so disruptive across the board. Can we just get there faster?”
Precision medicine flips the script on conventional medicine, which typically offers blanket recommendations and prescribes treatments designed to help more people than they harm but that might not work for you. The approach recognizes that we each possess distinct molecular characteristics, and they have an outsize impact on our health.
Around the world, researchers are creating precision tools unimaginable just a decade ago: superfast DNA sequencing, tissue engineering, cellular reprogramming, gene editing, and more. The science and technology soon will make it feasible to predict your risk of cancer, heart disease, and countless other ailments years before you get sick. The work also offers prospects—tantalizing or unnerving, depending on your point of view—for altering genes in embryos and eliminating inherited diseases.
More immediately, the research points the way to customized therapies for the most recalcitrant cancers. Last spring, researchers at the National Cancer Institute reported the dramatic recovery of a woman with metastatic breast cancer, Judy Perkins, after an experimental therapy using her own immune cells to attack her tumors. The team, led by Steven Rosenberg, an immunotherapy pioneer, had sequenced her tumor’s DNA to analyze the mutations. The team also extracted a sampling of immune cells called tumor-infiltrating lymphocytes and tested them to see which ones recognized her tumor’s genetic defects. The scientists reproduced the winning lymphocytes by the billions and infused them into Perkins, along with a checkpoint inhibitor, pembrolizumab. More than two years later, Perkins, a retired engineer from Florida, shows no signs of cancer.
The game changer may not be this treatment but what it says about the power of precision medicine. The distinctive mutations that fuel a person’s cancer may be its undoing.
Thirty years ago, scientists thought that it would be impossible to crack our genetic code and sequence the 3.2 billion pairs of compounds in our DNA. “It was like you were talking fairy tales,” Kurzrock said. “The conventional wisdom was that it would never happen. Never! And then in 2003, never was over.”
It took the Human Genome Project 13 years, roughly one billion dollars, and scientists from six countries to sequence one genome. Today sequencing costs about a thousand dollars. The latest machines can churn out the results in a day. The technology, combined with sophisticated molecular analysis, illuminates the astonishing biochemical variations that make every human body unique.
The more scientists discover about those differences, the cruder conventional medicine seems. Consider one-pill-fits-all prescribing. Most people who take a blockbuster drug, such as a statin or corticosteroid, benefit. But genomics reveals that many people don’t. The Food and Drug Administration has identified about a hundred drugs that may not work as commonly prescribed in people with specific gene variants.
The problem can be deadly. The drug clopidogrel, for instance, is routinely given to prevent blood clots in patients after a heart attack. But about a quarter of the population has a gene variant that produces a defective form of an enzyme needed to activate the drug. Alan Shuldiner, a professor of medicine and a genetics researcher at the University of Maryland, found that when those people are prescribed the drug, they are twice as likely to have a repeat attack or die within a year of the first, compared with patients who don’t have the variant. Some major medical centers now screen heart attack patients for the variant, but the test is far from routine.
Many experts say that a decade from now, a DNA profile will be part of everyone’s medical record. Geisinger, a large health system in Pennsylvania and New Jersey, recently began offering genome sequencing as a routine part of preventive care, along with mammograms and colonoscopies.
Like advances in computer chips, which liberated us from desks and then tethered us to smartphones, the shift to genomics and data-driven medicine will be disruptive in unpredictable—and perhaps distressing—ways. We soon will have at our fingertips extensive data about diseases we may develop over the course of our lifetimes.
Genomically speaking, we’re more than 99 percent alike—but separated, on average, by millions of genetic variations. At last count, scientists had cataloged 665 million, ranging from big alterations to differences in one of the nucleotides that make up DNA.
Which variants are harmless quirks, and which pose dangers? Like parents staring at tiny toy parts and baffling assembly instructions, scientists have barely begun to figure it out.
Biobank computers link to the health records of participants, because the clues in DNA reveal themselves only when researchers can tie gene variants to traits and ailments in people. “Everybody unfortunately will be informative in the long term,” said Rory Collins, the biobank’s chief executive and principal investigator. “But only a small portion of people will be informative about a particular disease.” The biobank has genotyped tissue from every donor. The process, commonly used by consumer DNA test companies, scans the genome for specific variants. The biobank is now working with a pharmaceutical consortium to sequence every donor’s exome, the protein-coding portion of the genome. Genotyping can find oddities and defects that researchers know to hunt for; sequencing can unearth new ones.
More than 4,000 researchers around the world are using the biobank’s data trove to study the genetics of such conditions as cancer, osteoporosis, and schizophrenia and such habits as using marijuana and being a night owl.
Researchers are using the data to push the bounds of personalized medicine. Scientists at the Broad Institute in Cambridge, Massachusetts, recently unveiled a personal risk scorecard of sorts—algorithms that calculate the odds you’ll develop five serious, common ailments: heart disease, breast cancer, type 2 diabetes, inflammatory bowel disease, and atrial fibrillation.
The scorecard builds on an unsettling discovery: Many people have numerous mutations that each pose negligible risk but cumulatively present a problem. For instance, in breast cancer these little mutations collectively are as dangerous as a BRCA1 mutation and far more common, said Sekar Kathiresan, who led the research. Many people harbor these bundles of defects and don’t know it. In the not too distant future, Kathiresan said, doctors will use systems like this to score people’s risks, perhaps even at birth.
The scientists can start with almost any adult tissue. They reprogram it, using proteins involved in gene expression to turn back the clock and convert the mature cells to embryo-like ones. The reprogrammed cells, called induced pluripotent stem cells, are then placed into a brew of growth factors and other proteins. The recipe is crafted precisely to synthesize any functioning tissue a researcher wants.
Once they create it, the scientists pull the tissue apart and lay the cells onto a chip—a translucent plate about the size of a memory stick. Made by Boston-based Emulate, the chip is lined with tiny channels that carry blood and nutrients to the cells and help them mature.
Svendsen said the model will be valuable for testing new drugs and predicting how a patient will respond to a given treatment. Figuring out which drug works best is often a miserable process, he said, citing epilepsy as an example: “We put kids through three months of hell, trying one drug after another. With the chip, you can just put a different drug on every day until you find the one that shuts down the seizure.”
Just how far can cell and gene technologies push the limits of medicine? Shoukhrat Mitalipov’s laboratory at Oregon Health & Science University in Portland hints at where we might be headed. Mitalipov, a native of Kazakhstan with a boyish crop of black hair and a wrestler’s build, used the gene-editing tool Crispr-Cas9 to alter the DNA of human embryos.
Mitalipov and his international team cut a segment in the paternal gene to remove a mutation associated with the potentially fatal heart condition hypertrophic cardiomyopathy. They made the Crispr cut as they fertilized eggs from healthy donors with sperm from a man who has the disease. If these embryos could grow into babies, they wouldn’t have the disease or pass the genetic defect down the family line. Mitalipov, director of the university’s Center for Embryonic Cell and Gene Therapy, had no intention of carrying the experiment that far. The scientists grew the embryos for about three days, then removed the cells for further analysis.
Tinkering with embryo genomes and changing the gene pool of future generations was long considered taboo, but in 2015, researchers in China reported using Crispr on nonviable human embryos to modify the gene for beta-thalassemia, a potentially deadly blood disorder. Cutting the gene introduced more damage than it fixed. Mitalipov discovered no such problem. His repair technique didn’t work in every case, but he believes that with more refinement it could be used to eliminate any of the 10,000 diseases associated with single mutations.
Whether or not his method bears out, the scientific community is coming to accept the inevitability of embryo modification. A 2017 report from the National Academy of Sciences and the National Academy of Medicine concluded that a clinical trial might be permitted, though only after more research and only in dire medical cases. The technology to do it is developing fast, and perhaps the impulse to stretch the bounds of possibility is coded in our genes.
In 1978 the first “test-tube” baby, Louise Brown, also triggered anxiety about designer babies. Since then more than eight million babies have been born through in vitro fertilization and other reproductive technologies. The first heart transplant, in 1967, sparked fears that doctors would prematurely end the lives of comatose patients to harvest their organs. Now thousands of desperately ill patients around the world undergo heart transplants every year.
Even the simple home pregnancy test, available on any pharmacy shelf, set off an outcry when the FDA approved the first one in 1976. Some doctors insisted women would get too emotional about the results. A medical technologist, writing in the American Journal of Public Health, called for legislation “to limit the use of such potentially dangerous kits.”
The fears faded as these breakthroughs became commonplace. The same thing may happen as DNA sequencing, gene editing, and other once unimaginable technologies become indispensable and progress saves lives. But the precision medicine revolution is unlike any other we’ve seen. It allows us to know what has always been unknowable about our bodies and to peer into our medical future. It moves science into a new realm of biological manipulation—and repair.
Judy Perkins, who is alive today because of advances in immunotherapy and gene technologies, believes the world should be clear-eyed about the power science has unleashed. “It’s like nuclear energy,” she said. “If it gets out of control, it can be really, really ugly. And if you harness it right, it’s great.”
According to Emi Berry, Artificial intelligence in ICUs and detecting cancer clones that may be resistant to treatment ahead of time could be the future of medicine. The following excerpt was taken the website newsroom.unsw.edu.au and the articles title is “What does the future of medicine look like?”
One of the biggest challenges is how to implement AI or machine learning assisted decision making in medicine, but with the clinician still feeling in control, says Professor Louisa Jorm.
How important will developments in technology – especially artificial intelligence (AI) and robotics – be within medicine in the future? What does that look like, for example, in an intensive care unit? Can having diverse specialists in one place streamline care for patients? And are these future medical innovations going to further widen the gap between those who can access them and those who can’t?
These were some of the fascinating issues discussed at last night’s UNSW Sydney’s Future Medicine event hosted by ABC journalist Tegan Taylor with medical expert panelists Professor Louisa Jorm, the Foundation Director of the Centre for Big Data Research in Health at UNSW; cardiologist and Scientia Professor of Medicine at UNSW Anushka Patel; Professor Anand Deva who is the program head of Plastic and Reconstructive Surgery in the Faculty of Health & Medical Science at Macquarie University; and leading biomedical researcher and statistical geneticist Associate Professor Joseph Powell.
An underlying theme from the conversations with the panel of experts was one of customised health care, improving patient care and outcomes as technology in the medical field evolved.
So, what does the future of medicine look like?
Artificial intelligence in health care
Healthcare settings are flush with data. How do you sift through the data, protect the patients and train the people in the system to make the most of the power of AI when all of this technology is developing so quickly?
Professor Louisa Jorm, who is an international leader in big data health research, explained how data could be harnessed in an intensive care unit (ICU).
“Intensive care is one of the biggest producers of data within a hospital, with current technology producing continuous streams of data about physiological parameters such as heart rate, speed of respiration, blood pressure and blood glucose. That has mainly been used just on the spot to monitor an individual patient. What we can now do is bring together the data that’s generated through ICUs from multiple patients – potentially thousands of patients – and then apply these AI or machine learning techniques to produce more personalized approaches to intensive care.”
While this technology is still in its infancy, Professor Jorm said there were some great examples emerging from the research sphere that related to automated blood control and automated control of mechanical ventilation. However, in the ICUs, there’s a big implementation gap between what is possible – using the data and technology – and what works in the clinical setting of a hospital.
“As you can imagine, there’s a huge amount of human factors and in particular there’s the current generation of doctors and other clinicians who are not necessarily familiar or comfortable with all of these technologies. Rightly, they have concerns about who’s making decisions and are they good decisions? Are there possible ethical and legal implications if decision making is done in an automated fashion? So, I think the big challenge is how to implement AI or machine learning assisted decision making, but with the clinician still feeling in control and also, still being able to involve patients and careers in some of those decisions. It’s not always the machine making the best decision.”
Imagine if you could understand undiagnosed cancers before they were observed or detect cancer clones that were going to be resistant to treatment ahead of time. Underpinning this future is cellular genomics.
“Cellular genomics is essentially a technology type which allows us to generate sequencing data – information on our genomes – but at the level of individual cells,” said Associate Professor Joseph Powell, who is the head of the Garvan-Weizmann Centre for Cellular Genomics.
“The reason why this has been so revolutionary is that genomics and generating sequencing data has been around for quite a while … it’s made a huge impact already in medicine, but it’s traditionally been done at the level of what we call bulk sequencing and that’s where you would take a cancer sample from a patient, and you would sequence the content from millions and millions of cells, which is fantastic. It can be used for some really important outcomes, but it doesn’t give us any information about the difference between one cancer cell and another cancer cell, for example.
“However, cellular genomics gives us that information and that allows us to understand the differences in cells in a cancer, for example, or why those genetic differences between them impact response to treatments or why we respond to an infection or indeed why do we even develop disease in the first place,” explained A/Prof. Joseph Powell.
Integrated care models
Receiving a skin cancer diagnosis is an unsettling feeling, on top of the realization of having to organize ongoing doctor appointments and specialist appointments across different locations. What is the solution to this problem?
Professor Anand Deva is an architect of integrated care models. He’s the Director of the not-for-profit Integrated Specialist Education and Research Foundation, which is dedicated to improving the access of Australians to quality health care.
“What we’re trying to do is simplify the system for patients. So, for example with the diagnosis of something like skin cancer which can certainly be quite scary, if you add confusion, cost, waiting times inefficiencies of going from one doctor to another, in its simplest form an integrated care model around skin cancer would put all the elements that would be required to treat that patient in the one place, at the one time. And that’s exactly what we’ve done,” explained Professor Deva.
However, when implementing such a model, Professor Deva highlighted the importance of a collaborative mindset in a system that is naturally fragmented.
“The biggest change, of course, came when Medicare was introduced. I’m a firm believer in universal access to health care but the problem is that since that time, we’ve had private versus public sector. We’ve had specialists versus GPs. We’ve had health funds versus doctors. We’ve had industry versus private hospitals. Each of these components doesn’t necessarily like working together, so to start with, I think you need to find people that are open to collaboration and that’s not easy.”
Professor Deva said for the integrated care model to work successfully, you need to pick a cause. “Ultimately, if you have a patient sitting in front of you with a problem, there’s nothing like that to make you united as a system to help that particular patient.”
Equitable access to health care
With all these medical advancements, the future seems bright. But what do we need to do to ensure the future is bright for everyone? How do we ensure these healthcare advances are distributed equitably?
Professor Anushka Patel is the Vice-Principal Director and Chief Scientist of The George Institute for Global Health and has a keen focus on making health care both affordable and effective.
“I think we’ve got a health system in Australia we can be really proud of. But the health system we have today has been developed and established for problems of the past and most of the health inequities that we see today are problems of the present and of the future,” said Professor Patel.
Professor Patel suggested the Australian health system is not equipped to deal with an ageing population and the growing problem of multi-morbidity. She said it needs transformation into the future and this could be achieved by using three principles that may help deliver better equity.
“It’s a concept that’s gaining a lot of credence around prevention that is sometimes called, the ‘three Ps’. It’s around innovations or changes to medicine or health care that not only prevent disease but at the same time help promote equity and protect the planet. It’s about transforming the health system towards patient-centered health care with a much greater focus on prevention than cure.
“What I mean by patient-centered care is that you know for each person we’re delivering the right care, at the right time, in the right place, with a really strong emphasis on shared decision making. It’s care that’s fundamentally customized. It’s collaborative between the healthcare providers and patients and it’s coordinated between healthcare providers, particularly in the context of multi-morbidity,” said Professor Patel.
She explained it’s also about meeting the needs of the patient and not the convenience of systems and processes that are currently used in traditional bricks and mortar health systems.
“These aren’t new concepts, but they are happening very incrementally, when they need to be transformative. For that transformation to patient-centered care to happen, I think it will require major shifts in vision values, leadership drivers of quality improvement which include funding models but also new workforce strategies.
“But I have no doubt that maybe some of the other innovations we’ve talked about today around data and technology are going to be critical enablers for any transformation, particularly transformation that’s going to promote equity.”
According to Holger Breithaupt, in his article “The future of medicine,” which was published on the website ncbinlm.nih.gov
A centralized health database has the potential to increase overall health by reducing the risk of lifestyle diseases, such as diabetes, high blood pressure or coronary heart disease. By analyzing the genetic and health knowledge from the database, primary care physicians will be able to draft an individual risk assessment for their patients and develop drug regimens or advise on lifestyle changes. Thus, the proponents of national health and genetic databases maintain that the benefits for society are too large to be ignored. With health care becoming an explosively increasing budget factor—the USA and Germany are already spending 13% of their GDP on it—First World countries will have to look into ways to control costs without impeding quality. According to Andres Metspalu of the University of Tartu, and one of the founders of the Estonian Genome Project, genetic medicine will be one avenue to follow. Although the project has created a stir in the country, mainly over ethical questions, physicians think it could make better use of existing health care budgets. ‘If we know the genetic markers [for drug response], we could plan better treatments’, Jaanus Pikani, Director of the University Hospital in Tartu, Estonia, said, referring to his country’s establishment of a national health and genetic database, ‘so we won’t waste money on unnecessary treatments’.
In my final section of this chapter, Larry Seltzer in his article entitled “The future of medicine: How technology will shape patient care and improve outcomes,” posted on the website hpe.com discusses how widespread technology adoption is changing how medicine works, from healthcare techniques to the patient user experience.
Sometimes it seems as though healthcare has improved little from our parents’ day: We still encounter long waits to see a doctor, short appointments, incessant testing, and ennui that leads to patients who feel uninvolved with their own care. But the latest generation of medical technology promises a healthier experience.
Doctors, nurses, and patients will see more involvement with medical care, less non-medical overhead, and better health results, along with—hopefully—a reduction in patient costs. Improvements in medical care technologies are expected to bring significant benefits for patients, giving them more control over their ability to self-direct their care. Advances will also help medical professionals who are under pressure to deliver life-saving results while also handling all the compliance paperwork demanded today. In addition, medical professionals will be able to more carefully sculpt medical procedures to patients’ needs and deliver more accurate, personalized diagnoses to direct treatments.
Or at least that’s the intent of a lot of smart people working to improve the experience.
What you need to know
A lot is changing, quickly. This 57-page report gives you a heads-up on the technologies impacting medical care, in the near future and looking a bit further out. You’ll find information on:
- Technology that’s improving all aspects of patient care
- Reduced patient costs
- Improved security for information and devices
- Smart medical spaces
- Prescriptions that include food
- Integration of personal devices into healthcare
Medical care is seeing rapid changes as technology becomes integrated into processes, patient records, diagnostics, and even what people eat. Making use of the technological edge and the rapidly increasing amount of data that can be discovered, analyzed, and applied is changing the day-to-day way medicine works. This report covers the following areas:
- Medicine depends on technology to improve the future: Technology is improving all aspects of patient care, with specialized tools and better and faster analytics, reducing workloads and improving outcomes.
- Analytics leads the way to cost reduction: Improvements ranging from better facility management to more efficient supply chain operations are resulting in reduced costs to patients.
- New tech demands new security: With medical IoT becoming commonplace, the security-first model becomes primary. A fully integrated security model needs to be deployed, with the average hospital bed today hosting more than a dozen IoT devices.
- Medical facilities are getting smarter: Real-time digital integration, hospital-wide AIs, and smart medical facilities are working together to improve patient results.
- You are what you eat: Prescription food combined with integrated personal devices will have a big impact on patient healthcare.
- Healthcare’s future is digital: New technologies will integrate wearable devices into patients’ healthcare, streamline and improve processes, and cut waste—reducing costs, improving care, and creating happier and healthier patients.
As you can see in my various sections of this chapter, technology will play a pivotal role in the advancement and future of medicine. I am sure this comes at no surprise to the reader. However, what might not be so evident, is that our privacy will be eroded by each new advancement. What used to be the purview of God is now in the hands of scientists. Genetic manipulation will take place not just in viruses and bacteria but in humans as well. What people may not realize is that the genetic manipulation has already started. Millions of people are being manipulated as we speak by the mRNA vaccines that were injected into countless guinea pigs. The vaccine’s mRNA was not supposed to migrate very far from the injection site, well, it has and is doing God only knows what to millions of us. It is not bad enough that they injected us once with it, they will eventually have countless boosters when COVID-19 becomes endemic like our yearly flu season. I have already devoted chapters in this book as well as in my two previous books. I guess, you are getting the idea that this pandemic was truly world altering.
When individuals like Fauci and Bill Gates carry out their agendas with little to no oversight nor any repercussions for their actions, you truly have entered into dangerous times. Times when life has no meaning and by this, I don’t mean a single life. I am talking about tens of thousands of lives and possibly even more. Gates said that there are too many people in this world, so why is he spending so much money trying to save lives? It kind of makes you wonder. So right now we are at a fork in the road for medicine and experimental science. Thanks to the COVID-19 pandemic, we are going down the wrong road.