Meeting Unmet Medical Needs – Genomic Medicine By Dr. Kalyan and Dr. Hima

The session began with a brief presentation by Dr. Kalyan Uppaluri, Managing Director, K&H Personalized Medicine, on how and why to incorporate molecular biology and genetic science into clinical practice, supported by a few figures.

Medicines Still Under Trial for Chronic Conditions

According to global research, there were 767 medicines in phases I, II, and III of trials for chronic medical conditions as of August 2022, and personalized medicine entering the practise was unavoidable, and we needed to be prepared. There are 300 trials for cancer, 94 for cardiovascular diseases, 64 for diabetes and obesity, and 166 in phase 3 studies. The fact that most of them are targeted therapies adds further weight to this argument.

Need for Different Medicine Subspecialities

Dr. Hima Challa, Director, K&H, then took over continuing the discussion by pressing on the need for different medicine subspecialties other than oncology, which is already a bit more familiar with targeted therapies, to start adopting them. Inclisiran, a recently approved targeted therapy for cholesterol management, is one of the examples of targeted therapies. It is a PCSK9-interfering mRNA that is coming to other specialties than just oncology.

Example of Whole Exome Profile

Dr. Hima used the example of a 28-year-old patient who had elevated glycosylated haemoglobin levels that had been significantly reduced without the use of medications and solely through dietary and lifestyle changes.

The management plan was considered after assessing his whole exome profile and not finding any important mutations. Another example was a 37-year-old person who had come with a family history of cancer. After undergoing the cancer screenings, she found BRCA1 and BRCA2 structural changes and started making the required changes to her lifestyle and undergoing regular ultrasound scans. She is currently doing fine.

Two-Step Validation for Genome Analysis

Dr. Hima also mentioned the two-step validation provided by ACMG once the genomic analysis is ready. One is clinical validation to see if the data is clinically relevant. Another is phenotypic correlation, where the patient’s medical information and lifestyle are also considered, which forms the epigenetics. Dr. Hima focused on how important two-step validation is, which is the correlation of clinically relevant data with phenotypic data to provide the right assessment, and also how avoiding it may backfire.

Requirements for Next-Generation Sequencing (NGS)

Dr. Kalyan further gave an account of the requirements that are needed for Next-Generation Sequencing (NGS). The test needs to undergo validity testing. The accuracy, sensitivity, and specificity of NGS depends on the person and protocol, as well as the depth of coverage and the size of the raw data.

Dr. Kalyan provided a few statistics about the clinical significance of data validation, such as how 33% of heart attacks in India occur at an early stage and 60% of people with coronary artery disease are positive for PCSK9, as well as how Inclisiran silences the gene. Inclisiran is currently not available in India, but another drug, Repatha (Evolocumab), is available here. APOC3, being one of the favourite targets for researchers, is also being investigated for an antisense drug that is going to be approved next month (Volanesorsen), and a few more molecules like ANGPTL3 and PDL4 monoclonal antibodies are being developed.

Dr. Kalyan also talked about pharmacogenomics and how it also needs to be considered as the FDA website mentions 581 drugs that have pharmacogenes involved. These pharmacogenes are also mentioned on black labels. The pathways and genes for these medications are included in pharmacokinetics and pharmacodynamics. The guidelines are also changing and being approved by the American College of Cardiology and the European Society of Cardiology. Dr. Kalyan also said that personalized medicine will arrive at any time, and the answer is in the genes.

Life File

Dr. Hima again concluded the talk by giving an update about Life File, a report generated for the individual with information about their genomic analysis, medication, diet, and lifestyle. Dr. Hima also mentioned, which is mainly for the patients to find out about personalized medicine and also allows the physicians who practice personalized medicine to find these patients through the portal there, interact with them, and update them about their webinars, etc., as this is a collective work. The final point raised was about CRISPR, a platform for institutions to move science forward.

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Meeting Unmet Medical Needs – Genomic Medicine By Dr. Kalyan and Dr. Hima