• Published on: Jun 20, 2020
  • 4 minute read
  • By: Dr Rajan Choudhary

Artificial Intelligence In Healthcare

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Artificial intelligence. This phrase means different things to different people. To some, it conjures ideas of robots having the same intelligence and creativity as humans, able to do any tasks we instruct them, except better than us. To others it is a new and exciting tool, one that could revolutionise the way we work, but also the way labour is distributed in society. And for developers? They dread being asked to make an artificial intelligence system by people who have only heard buzzwords such as “machine learning” and “deep neural network” in headlines and blogs.

In this blog we will look at the basics of AI terminology, so we can understand what these terms really mean, and whether they will have an impact on healthcare.

WHAT IS ARTIFICIAL INTELLIGENCE?

Even this question is difficult to answer, as it enters the realms of philosophy and discussion over the meaning of intelligence. What makes a person intelligent? Is it their retained knowledge? Because a computer can store the entirety of known human knowledge on a disc. Is it understanding and following instructions? Or is it creativity, a skill even the average person may struggle with at times. We know one thing for sure, distilling a person’s intelligence down to a single IQ number is disingenuous and doesn’t represent true intelligence.

Similarly people define AI in different ways. A broad definition looks at the ability for a computer or programme to be able to respond autonomously to commands, to the changing environment around them, recognise audio or visual cues, process the information without strict defined rules and spit out a desired function.

The key features appear to be autonomy: the ability to function independent of a human controller or guide, and adaptability: the ability to work beyond strict rules and criteria, and function in situations or with inputs beyond their original programming.

In medicine, a “dumb” system could work with physical values, for instance blood results, compare them to a “normal range” and determine if results are abnormal (e.g if the patient has anaemia).

A smart “AI” would be able to look at a CT scan, notice subtle changes in the images, compare it against what a normal scan should look like, and identify the pathology. This is very difficult because normal scans can differ noticeably between patients, (for instance due to anatomical differences between people), and disease findings can be even more varied, unusual, abnormal. Human brains have incredibly complex pattern recognition systems – over a third of the human brain is dedicated to just visual processing. Imagine trying to re-create that in code.

At first people tried to emulate this with fixed programming. For instance, to teach a programme to recognise a bicycle, you would need to teach it to first exclude anything that is not a vehicle, then exclude anything that does not have wheels, has more than 2 wheels, has a frame connecting the two wheels, has a chain connecting the pedals and the rear wheels……and so on. All of this for a bike. Now imagine trying to code it to recognise subtle changes to cells under a microscope, to recognise cancer cells, to recognise an abnormal mass on a scan. Clearly this solution is very clunky, and simply not feasible.

MACHINE LEARNING

Modern AI systems have moved towards “machine learning”. This is a statistical technique that fits learnt models to inputted data, and “learns” by training models with known data sets. Instead of a person defining what a bicycle is, the model is flooded with thousands of pictures of bikes, and the programme forms its own rules to identify a bike. If this model is then shown a picture of a bike it will show the statistical likelihood of the picture being a bike. The system could be expanded by  further training the model with pictures of motorbikes, scooters and other two wheeled forms of transport. Now if given a picture, the model can determine what type of two wheel transport it has been shown.

The healthcare application can be simple – lets look at a radiology example.  Teach an AI model what normal lungs look like, then show it images of various pathologies such as pneumonia, fibrosis or even lung cancer. If fed enough images and variations of a type of disease, the AI’s statistical analysis might even find associations and patterns to identify a disease that a human radiologist would be unable to find.

NEURAL NETWORKS

A more complex form of machine learning is the neural network. Its name suggests it is analogous to the neurons in a human brain, though this analogy does not stretch much further. Neural networks split the image into various different components, analyse these components to see if it has variables and features before spitting out a decision.

The most complex forms of machine learning involve deep learning. These models utilise thousands of hidden features and has several layers of decision making and analysis before a decision is made. As computing power increases, the ability to create ever more complex models that can look at more complex 3 dimensional images full of dense information. These deep learning models have been able to identify cancer diagnoses in CT and MRI scans, diagnoses that have been missed by even the most expert consultants. They can also identify structures and patterns the human eyes cannot, and may end up being better at diagnoses than a highly trained specialist. Of course such diagnoses would still have to be checked by a doctor, as due to the medico-legal implications that could occur from incorrect diagnoses created by a computer utilising models even their programmers cannot understand.

NATURAL LANGUAGE PROCESSING

But the application of AI is not limited to identifying images and scans. One of the greatest hurdles a computer faces is trying to understand human speech. Dictation from speech to text is easy, but understanding the meaning of what was said, and trying to use that to create instructions or datasets, that’s hard. This is why the iPhone’s Siri or Google Assistant on Android phones seem so limited. They can only recognise certain set instructions such as “What is the weather” or “Set an alarm for…”. More complicated instructions or requests usually results in an error.

People don’t speak in simple sentences. If asked about their symptoms, every patient will use different sentence structures, adjectives, prioritise different symptoms depending on how it affects them, and create a narrative rather than a list of symptoms. Similarly when writing in patients notes, doctors will also use complex sentences, short-hands, structure their notes differently. Feeding this information to Siri would not output a clear diagnosis, but rather give the poor digital assistant a migraine.

Deep learning is being used to analyse natural speech to pick out the important information that will lead to a diagnosis, similar to how a medical student is trained when taking a history. If deployed successfully this would be invaluable in triaging patients based off the severity of their symptoms, and assigning them to the right specialists. 

It would also have huge implications for research. Identifying data is very labour and time intensive, and the costs of trawling through patient notes can significantly limit the feasibility of research studies. A deep learning AI system could read through the notes, identify all the important symptoms, how a patient is improving on a day to day basis and other subtle parameters, and do so without human supervision through thousands of cases without boredom or fatigue. The wealth of information available could significantly improve the quality of research performed.

Artificial Intelligence and the various buzzwords can be difficult to break down and digest. And certainly this blog will not answer all of your questions, and may leave you with more questions than you started with. But understanding the basics of AI will help in appreciating the effort that goes into creating these systems, and also acknowledge the hurdles that limit AI from becoming prevalent across healthcare.

At least for now. Progress in this field is constant. By next year the AI landscape may be very different.

Dr Rajan Choudhary

HEAD OF PRODUCTS, SECOND MEDIC INC UK

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Genetic Predisposition Testing India: Understanding Your DNA to Prevent Future Disease

Genetic Predisposition Testing India: Understanding Your DNA to Prevent Future Disease

Genetics plays a significant role in determining an individual’s risk for various diseases. In India, where chronic illnesses like diabetes, heart disease, cancer, and neurological disorders are increasing rapidly, genetic predisposition testing has emerged as a powerful preventive tool. It helps individuals understand inherited risk factors long before symptoms appear, allowing timely intervention.

SecondMedic offers guided genetic screening to help patients uncover DNA-based risks and take proactive control of their long-term health.

What Is Genetic Predisposition Testing?

Genetic predisposition testing analyzes a person’s DNA to identify mutations, variations, or inherited markers associated with increased disease risk. It does not diagnose a disease but reveals how likely an individual is to develop certain conditions.

What the test identifies:

  • Gene mutations
     

  • Family-linked disease patterns
     

  • Hereditary cancer markers
     

  • Metabolic and cardiovascular risks
     

  • Neurological conditions
     

  • Autoimmune predispositions
     

These insights help individuals and doctors make informed preventive health decisions.

Why Genetic Testing Is Growing in India

1. High prevalence of lifestyle and hereditary diseases

India is the diabetes capital of the world, and many metabolic disorders have genetic roots.

2. Increasing cancer burden

BRCA and other hereditary cancer syndromes are being detected more often.

3. Awareness about preventive healthcare

People want to act early rather than wait for disease onset.

4. Growth of digital healthcare

Easy access through telemedicine platforms like SecondMedic.

5. Rising chronic cases at younger ages

Genetic predispositions often accelerate early onset of disease.

What Diseases Can Genetic Testing Predict?

1. Cancer Risk

Includes hereditary cancers such as:

  • Breast
     

  • Ovarian
     

  • Colorectal
     

  • Prostate
     

  • Pancreatic
     

BRCA1, BRCA2, and Lynch syndrome genes are key markers.

2. Heart Disease & Hypertension

Genes that influence:

  • Cholesterol levels
     

  • Plaque formation
     

  • Blood pressure regulation
     

3. Diabetes

Genes that affect insulin sensitivity and metabolic function.

4. Obesity

Markers linked to appetite regulation and fat storage.

5. Neurological Disorders

Including Alzheimer’s, Parkinson’s, and epilepsy predispositions.

6. Autoimmune Diseases

Genes related to lupus, rheumatoid arthritis, and thyroid disorders.

7. Drug Response (Pharmacogenomics)

DNA determines how the body reacts to certain medications.

How Genetic Predisposition Testing Works

Step 1: Sample Collection

Usually saliva, blood, or buccal swab.

Step 2: DNA Sequencing

Advanced technology identifies variations in your genome.

Step 3: Risk Analysis

Gene mutations are mapped to known disease risks.

Step 4: Expert Interpretation

SecondMedic’s genetic counsellors and doctors review results.

Step 5: Preventive Plan

Includes recommended lifestyle changes, screenings, and monitoring.

Benefits of Genetic Predisposition Testing

1. Detect Risk Before Symptoms

Allows decades of preventive action.

2. Personalized Health Planning

Diet, exercise, and medical screening tailored to DNA.

3. Early Cancer Detection

Essential for women with hereditary breast/ovarian cancer risk.

4. Family Health Insights

Identifies conditions that may affect children and siblings.

5. Improved Treatment Outcomes

Knowing your risk helps doctors monitor you more closely.

6. Better Drug Selection

Pharmacogenomics ensures medications match your genetic profile.

Who Should Consider Genetic Testing?

  • People with family history of cancer
     

  • Individuals whose relatives had early heart attacks
     

  • Families with diabetes across generations
     

  • Women with breast or ovarian cancer history
     

  • Couples planning pregnancy
     

  • People with unexplained chronic conditions
     

  • Individuals wanting personalized preventive healthcare
     

Limitations of Genetic Testing

1. Not a diagnosis

It shows probability, not certainty.

2. Environmental and lifestyle factors still matter

Genes interact with habits and environment.

3. Requires professional interpretation

Raw results without counselling can be confusing.

SecondMedic ensures accurate guidance through experienced specialists.

How SecondMedic Supports Genetic Testing

1. End-to-End Genetic Screening

From sample collection to detailed analysis.

2. Expert Review

Genetic counselors and doctors explain every risk factor.

3. Personalized Preventive Plan

Nutrition, exercise, and screening based on DNA.

4. Confidential Reporting

All data is securely stored.

5. Integrated Preventive Tracking

Follow-up tests and monitoring for high-risk individuals.

Future of Genetic Testing in India

  • AI-based genome interpretation
     

  • Affordable whole-genome sequencing
     

  • Predictive analytics for early cancer
     

  • Family-wide health risk mapping
     

  • Integration with digital health IDs under ABDM
     

SecondMedic aims to make genetic screening widely accessible and scientifically guided.

Conclusion

Genetic predisposition testing India empowers individuals by revealing inherited disease risks long before symptoms develop. It supports preventive healthcare, early cancer detection, and personalized wellness planning. With platforms like SecondMedic offering expert-guided genetic testing, Indians can now take proactive control of their long-term health.

To book your genetic test, visit www.secondmedic.com

References

  • ICMR – Genetic research insights
     

  • NIH – Genetic testing guidelines
     

  • WHO – Genomic medicine developments
     

  • Statista – DNA testing market India
     

  • SecondMedic genetic health studies

See all

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