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Personalized Medicine: Can We Really Achieve This in Dermatology? 4. PCR Testing, The Future

Polymerase Chain Reaction Testing

Polymerase chain reaction (PCR) testing refers to a chemical process where billions of copies of a specific DNA or RNA are replicated allowing its amplification and study. PCR has been optimized to enable the diagnosis and study of various disease-causing agents including viruses, and bacteria. The test is currently being used to diagnose a broad spectrum of medical conditions and is a very powerful diagnostic and research tool that produces highly accurate and replicable results. PCR gives clinicians a diagnostic edge by allowing them to diagnose and commence treatment earlier and improve outcomes. According to a Journal of Investigative Dermatology article, “The advent of the polymerase chain reaction (PCR) radically transformed biological science from the time it was discovered (Mullis, 1990). For the first time, PCR allowed for specific detection and production of large amounts of DNA. PCR-based strategies have propelled vast scientific endeavors such as the Human Genome Project. The technique is widely used by clinicians and researchers to diagnose diseases, clone and sequence genes, and carry out sophisticated quantitative and genomic studies in a rapid and very sensitive manner. One of the most important medical applications of the classic PCR method is detection of pathogens.”

The Future

We now have highly effective genetic testing and disease therapies, a plethora of information about health on the internet, and the tools and hopefully the motivation to move ourselves in the right direction including more prevention modalities than ever before. With the rise in personalized medicine, we will be able to enhance our health right down to the cellular and genetic levels.

New devices are being developed to detect skin cancer and other skin maladies using image analysis and computer–assisted diagnosis. The devices scan a skin lesion for abnormal appearance and detect any changes since the lesion was last evaluated to allow more well-informed judgments on lesions that might be troublesome and should be tested/removed. This pattern-recognition device is particularly helpful for people with extensive lesions or a family history of melanoma, which increases the possibility of melanoma. Continuous research and refinement will allow improvements in detection and treatment.

Teledermatology, the computer assisted, long-distance transmission of data about dermatological cases, will bring detection and therapeutic suggestions to areas where hands-on dermatology is limited. Joe Kvedar of Harvard Medical School writes that the Internet “offers the opportunity for delivery of care anytime, anywhere. This care delivery method will enable dermatologists to offer services in a place-independent fashion and may interrupt current referral networks.”

What drugs that may now be considered experimental are on the horizon and can be used in the near future for acute and chronic illness? Will boutique medicine offering genetic treatments be offered in the next 10 years? What are the ethical implications of illness and genetic manipulation? If you knew via genetic testing that your child may develop systemic lupus or severe arthritis, would you consider genetic manipulation to provide future protection? Is there always a beneficial aspect to eliminate an illness via detection and genetic manipulation or does it depend on the corresponding harsh symptoms of the illness? What are the religious, philosophical, and moral imperatives involved with illness? As we move forward, what will we choose to prevent, repair, and focus on in our ever-changing world?

One way to answer some of the question is to read The Code Breaker: Jennifer Doudna, Gene Editing, and the Future of the Human Race by Walter Isaacson. The must-read book recently moved onto my list of top books. The 2020 Nobel winner Jennifer Doudna, who helped develop the gene editing technology CRISPR (clustered regularly interspaced short palindromic repeats) is highlighted in the book that states, “CRISPR could open some of the greatest opportunities, and most troubling quandaries, of this century.” As it reveals new secrets about human life, it creates moral questions that must be addressed. “This year’s prize is about rewriting the code of life. These genetic scissors have taken the life sciences into a new epoch.” (Announcement of the 2020 Nobel Prize in Chemistry). I loved the inspiration, the rivalries, the ambitions and enormous hard work, and the thrill of discovery that opens the door to fundamental understanding of how life works.

In the book Rule of the Robots, Martin Ford argues that the true revolution is yet to come. “With unsupervised learning we are asking the computer to find its own patterns based on the data,” states engineer Martin Kleiner. “Let’s say I am looking for a spot on an X-ray of the lungs and I want to know if it is cancer. I can program the computer to do a Raster scan and specifically look for the spot and help define what it may be. With AI supervised learning, humans are telling the computer what to look for. We understand the patterns and the expected outcomes and we are asking the computer to sort through tons of data to come up with the answer. Or I can also just feed a million X-rays into the computer and not tell it what I am looking for at all. I can just say ‘look at all these X-rays and find your own way to cluster them and tell me what you come up with.’ Both, of course are different aspects of artificial intelligence but the more exciting one is the unsupervised learning. It will find things you don’t even know exist or how to even ask the computer to look for.”

In this sequel to his prescient New York Times best seller Rise of the Robots, Ford presents us with a striking vision of the very near future. He argues that “AI is a uniquely powerful technology that is altering every dimension of human life, often for the better. For example, advanced science is being done by machines, solving devilish problems in molecular biology that humans could not, and AI can help us fight climate change or the next pandemic. It also has a capacity for profound harm. Deep fakes - AI-generated audio or video of events that never happened - are poised to cause havoc throughout society. AI empowers authoritarian regimes like China with unprecedented mechanisms for social control. And AI can be deeply biased, learning bigoted attitudes from us and perpetuating them.”

Is this speculation or science fiction or are we channeling “I, Robot,” Asimov’s fascinating, cautionary tale, and opening up Pandora’s Box?

“In short, this is not a technology to simply embrace or let others worry about,” Ford writes. “The machines are coming, and they won’t stop, and each of us needs to know what that means if we are to thrive in the 21st century.”

DeepMind Technologies is a British artificial intelligence subsidiary of Alphabet Inc. and research laboratory founded in September 2010 and based in London, with research centers in Canada, France, and the United States. In 2015, it became a wholly-owned subsidiary of Alphabet Inc, Google's parent company.

In one example of its power and efficacy, DeepMind Health had access to admissions, discharge and transfer data, accident and emergency, pathology and radiology, and critical care at these hospitals. This included personal details such as whether patients had been diagnosed with HIV, suffered from depression or had ever undergone an abortion in order to conduct research to seek better outcomes in various health conditions. In February 2018, DeepMind announced it was working with the U.S. Department of Veterans Affairs in an attempt to use machine learning to predict the onset of acute kidney injury in patients, and also more broadly the general deterioration of patients during a hospital stay so that doctors and nurses can more quickly treat patients in need.

Benjamin Franklin once said, “All diseases may by sure means be prevented or cured, not excepting that of old age, and our lives lengthened at pleasure even beyond the antediluvian standard.” In 1996, Dr. Alfred Gilman, a 1996 Nobel Laureate, described the new era of medicine by saying, “In perhaps 50 years every molecule in the human body will be known. You'll be able to design a drug that works only on the molecule you want and on no other molecule in the body.”

Each person has about one million genetic variants. As we gain more ability to revitalize our health and expand our longevity through genetic manipulation, we will be faced with key decisions about our destiny. Center stage in our inquiry will be: What makes us human? Simultaneously we must work to save our planet from the forces of destruction such as climate change. And we must be cautious about what we seek to add; as the saying goes, “The camel came to receive horns and they cut off its ears.”

With new changes we will add on and expand our experiences using full immersion virtual reality incorporating all our senses for augmented reality.

We will enhance human intelligence and longevity and disease prevention capability using nanotechnology to extend our bodies and brains. Kurzweil and Grossman state, “We will develop means to vastly expand our physical and mental capabilities by directly interfacing our biologic systems with human created technology.”

Dr. Robert A. Norman

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