Novel Approaches in Medical Diagnostics

- Aparna Dhar
Medical Geneticist and Genetic Counselor ,
CORE Diagnostics.

This article reviews innovative approaches to dynamically probe, monitor, and interface human pathophysiology and discusses development of diagnostics with novel capabilities to bring direct improvement from the clinical laboratory to the patient, while addressing healthcare evolution and global health concerns.

In ancient times medicine relied on the acumen of the practitioner. The physician had to gauge the disease from the symptoms of the patient, and prescribe a treatment therein. Often, this necessitated a hit and trial approach to treatment. Today, an array of diagnostic tools is available to help identify a disease. Often, treatment mechanisms are credited for increased life expectancy. What we fail to recognize is that radical advancement in diagnostic testing in the past half century has been the key cause for major improvements in the healthcare industry.

Diagnostics today uses advanced technologies, big data, remote monitoring, and ICT to make disease diagnosis a "direct to cons umer affair". In simpler terms, patients will not be needed to visit a doctor for regular diagnosis, such as; blood sugar, blood pressure etc. In fact, new technology will ensure patients diagnose themselves and doctors will monitor their data via remote monitoring.

The latest buzz word in the world of Oncology has been "Personalized Medicine". Human Genomics studies have shown, a disease can exhibit different patterns and behaviors in different individuals depending upon their genetic make-up. This has heralded a new approach in treating Cancer patients where Oncologists and Medical Geneticists are designing personalized treatment for a patient based on their genes.

Below mentioned are some of the new approaches in diagnosis that will change the healthcare landscape in the coming days:

Digital Health Tools

One of the most significant trends that has gained momentum in the diagnostics industry in recent years is the increasing role of digital health to ensure faster, better and hassle-free reports and opinions. Pathologists and radiologists today are making use of IT, not just to drop down reports directly into the patient's mail boxes but also in making them available to doctors. Much like 'cashless' has been the buzzword in the Indian economy in recent times, 'paper and print less' is the major leap in the diagnostics industry. We are using tools of digital health to provide better, quicker, and improved services to users.

For example, at CORE Diagnostics, we resort to second opinions in rare cases . Our panel of experts sits across the globe. This is achieved by sharing whole slide images on a cloud that can be accessed globally. By providing this service digitally, we are able to provide the diagnosis within the same time and cost that it would take to get an opinion from someone located physically in India.

Home monitoring is another upcoming trend. With the help of digital health tools like hand held devices, it is possible today to regularly monitor vital statistics such as blood sugar and blood pressure and have the doctor updated with the records without having the need to visit him/her regularly. This is relevant and useful in diabetes management, which requires intensive monitoring.

Use of Genomics

Genomics in disease management is the science of studying human genes to understand the likelihood or risk of an individual towards a disease. The role of genomics in cancer screening tests is emerging as the new tool in preventive medicine. In fact, genetic testing has given a whole new preventive dimension to disease treatment. As compared to other diagnostic approaches that determine whether you have a disease or not, a genetic test helps determine whether an individual has a chance of contracting an illness or a genetic disorder.

Screening tests evaluate the degree or quantum of your risk towards a cancer . For example, genetic testing for BRCA1/BRCA 2 genes. These genes are associated with Breast, Ovarian and Prostrate Cancer.

At CORE Diagnostics, we have recently introduced a test called geneCORE Predict. This screens for 22 different types of cancers. The aim of the test is to help predict the chances that an individual will be affected by cancer . Equipped with this information an individual with his Doctor can chart out a surveillance package to vigilantly combat Cancer.

Genetic testing is not limited only to Oncology. It's applied in multiple disciplines of medicine. Parents, who are carriers of an autosomal recessive disorder or are affected by an autosomal dominant disorder can have their unborn child tested for the disease causing mutation. Similarly new born screening (neonatal heel prick or Guthrie test) helps diagnose multiple genetic disorders that can be either treated or belligerently managed from day one.

Pharmacogenomics is new and rapidly evolving field. It helps study a person's response to drugs. The aim of this branch of genetics is to develop effective, safe medication and doses that is tailor made to a person's genetic makeup. Rapid advances in this field are assisting doctors like Medical Oncologists in treating patients.

Liquid Biopsy

Liquid biopsy is another emerging area that is set to bring a paradigm shift in diagnosis. Real time liquid biopsies that allow testing of the presence of cancers through blood tests are set to revolutionize cancer treatment by providing oncologists rapid access to information on a molecular level and thereby optimizing treatment choices.

Recently, a study at The Institute of Cancer Research (ICR) and The Royal Marsden NHS Foundation Trust in the UK proved that liquid biopsy tests were accurate in predicting the relapse of cancer a good 6 months before symptoms were visible.

Faster Diagnosis of Drug Resistance in TB

One of the major drawbacks of antibiotics is the ability of the microorganism to develop a resistance to it. Delayed diagnosis of the exact pathogen often prompts physicians to prescribe broad spectrum antibiotics. Their indiscriminate usage adds to increasing antibiotic resistance. This issue has fueled a new area of research in clinical microbiology; thus enabling faster diagnosis by accurately diagnosing the causative microbes .

While a number of methods, such as mass spectrometry, real-time polymerase chain reaction (PCR) and flow cytometry have been developed for rapid bacterial identification, ongoing research is working towards further quickening the detection of microbial and host genetic sequences.

Novel diagnostic tests today perform DNA-based screenings to identify genetic mutations in MDR-TB strains, making them resistant to fluoroquinolones and injectable second-line TB drugs.

This test yields results in just 24-48 hours, which is significantly low compared to the 3 months or longer waiting periods. So, how does this benefit a patient? A faster turnaround time implies MDR-TB patients who have an additional resistance are not only diagnosed more quickly but are immediately placed on an appropriate second line treatment regime.