The term artificial intelligence might have once seemed like a part of science fiction: a dream that we would never see in the real world. We now have driverless cars and limited AI technology in things like our wrist watches. Medical researchers are now taking these AI systems into the world of healthcare.

These applications are all about shrinking the time between symptoms and diagnosis. We have always looked for ways that computer science can improve human health. Now medical device companies are working on ways to use machine intelligence to make their products more effective for patients everywhere.


Making Rare Diseases Easier to Find

 ThinkGenetic is a digital health startup company. It is finding a way for AI to help patients discover if they might have a genetic disease. David Jacob, ThinkGenetic’s CEO, recently moderated a panel called: How Artificial Intelligence is Moving the Needle in Medtech. “The panel will be looking for ways to use artificial intelligence to make their devices more knowledgeable,” says Jacob, “one of the underlying things will be how do we shorten the diagnosis odyssey – whether that’s with machine learning or with a wearable device.”

ThinkGenetic believes that it can locate people with diagnosed and undiagnosed genetic diseases by using AI systems. Jacob likes to call it, “GPS for genetics.” One of the most significant challenges for drug companies is finding patients. They create drug treatments for genetic conditions then they struggle to find the patients suffering from these illnesses in the real world.


How the AI Works

“What ThinkGenetic does is finds these patients on the internet when they’re out searching for answers and walks them through the process of learning more about themselves,” says Jacob. The application will take the patient step-by-step through a process. This application will help them figure out if they might have a genetic issue and then what it might be. This computer power will step in for human intelligence. First, it will take in all the signs and symptoms, and then it will connect them to all the possible diagnoses.


  • Genetic diseases are among the rarest and difficult conditions to diagnose.


There is AI research filtering the symptoms and asking questions to narrow down the prospects. The artificial neural networks will then talk about what it could be before telling the patient what they need to talk about with their doctor. ThinkGenetic has genetic counselors on their staff to guide people to the next steps.


Other Uses for Artificial Intelligence

Advanced AI has become a component of many new medical leaps forward in the field of diagnosis. San Francisco based, Freenome, has created clinical studies to make AI-Genomic blood tests for colorectal cancer more normal. These test trials would be able to learn from its own mistakes over time, making cancer screening more accurate.
AI technology is also now being used alongside programs that will monitor a woman’s health. Ava, a startup firm, is currently working on a bracelet that will be able to track and monitor a woman’s cycle using AI. This application could aid in both pregnancy prevention and those women trying to become pregnant.

One of the most ambitious reported uses for AI is the company Beta Bionic. They are trying to create a bionic pancreas that can perform two crucial services for diabetes patients.


1. Monitor the blood sugar of a patient easily.

2. Regulate a patient’s blood sugar all on its own.


Beta Bionic has recently received FDA approval to start recruitment for in-home test studies of an insulin-only version of the device. Most of these new technologies are not meant to replace or simulate human doctors. These advances will hopefully only advance human medical care.

David Jacob predicts that the amount of uses for AI is only going to get bigger over the next few years. “In healthcare, I see AI making us more proactive rather than reactive, We’re going to see things coming before they actually come… All these devices are going to be sending data that can be useful to the healthcare system. If the algorithms are written correctly then we can basically see problems [ahead of time].”

In the recent past, the practice of using genetic sequencing to treat rare diseases was beyond our capacity. However, new technology advancements are making this dream a reality. The field of genomic medicine is growing.


What Does Genomic Medicine Mean?

According to, genomic medicine means catering medical care to a patient by using their own genetic makeup. Every cell that exists in your body contains DNA. This DNA has a say in everything about you, from the color of your hair to the way your body functions as a whole. The genome is the entire DNA content present in one cell of a living being. 

Genomic medicine is making its way into more hospitals. At first, this practice was used to build complete genetic maps of patients. Since then, researchers have built off of that work. They have created a clearer understanding of human biology and chronic diseases. It is a non-invasive technology that can target diseases like brain cancer and cholera.


Research and Technology Make Genomic Medicine a Reality

Doctor Eric Green, Director of the NHGRI in Bethesda, MD, states that “The first change is an incredible increase in our knowledge about the human genome…and how changes or differences between peoples’ genomes influence health and confer risk for disease.”

It was not just one big technological leap that made this practice possible. It was a series of small changes over time that allowed this theory to become a reality. First, healthcare technology advances vastly reduced the cost of DNA sequencing.


  • The first sequencing of a genome cost nearly $1 million and today it costs about $1,000.


The lower cost made further advancements even easier. Stephen Kingsmore, President and CEO of Rady Children’s Institute for Genomic Medicine gives credit to two specific pieces of technology. “The new Illumina NovaSeq sequencer has…increased the speed and scalability of human genome sequencing. Likewise… the Edico Genome DRAGEN software/hardware have enabled genome analysis to be performed in about one hour.”



Is It Making a Difference?

Experts believe we are just seeing the beginning of the effect genomic medicine can have. Still, it is already having an impact through a handful of practices that all have a medically legitimate benefit.


  • Noninvasive prenatal testing: The current biggest use of genomic medicine has been in the prenatal field. Prenatal genetic tests can give parents an early view into the future of their offspring. A basic blood sample from the mother can provide a look into the future health of a child.
  • Treating and diagnosing cancer: Being able to sequence DNA will allow doctors to look into a specific patient’s cancer. Then they will able to target that particular cancer with certain treatments.
  • Pharmacogenomics: People all over the world have to live with all sort of allergies. Many allergic reactions come as a surprise. Genome sequencing could allow doctors to predetermine if a patient might have a bad reaction to a drug or medication.


Building the Groundwork to Make Genomic Medicine Possible

Kingsmore says that, in order to be ready for the future of genomic medicine and its applications, healthcare facilities have to place an importance on building “a well-rounded healthcare technology ecosystem.”

This means developing premium IT departments, then fully integrating them into the functions of a hospital. This will allow the hospital to share information freely and quickly. Proper access to technology also allows for the gathering of genome information with cloud-based software. A practice like that will help genomic medicine grow even faster.


“None of this is going to happen overnight.”

Dr. Eric Green cautions everyone not to expect genomic medicine in their medical practice tomorrow. There are still regulatory and reimbursement issues that need to be resolved. Healthcare professionals are also figuring out the best applications of this groundbreaking practice.

However, Green encourages us this science is expanding, “I think it’s very clear that the train has left the station…we are going to find ourselves in a very interesting transition phase for the next 10 to 20 years as it begins to spread throughout clinical practice.”

Just like the advances that brought us genomic medicine, the use of such practices will also be a slow bit-by-bit process.


For more information on genomic medicine, look to [].

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