It was a cold late evening, a rainy day! The moon was shying away as were the stars. The winds were flowing relentlessly. People were out in the streets veiled from the harshness of weather. The influenza had creeped its way back into the harmony of life. Little Ganesh and Karthik were crying after a tiring day at school.
The Virus took its toll on them, muscles aching joints in pain. Mother Parvathi did try her tricks with tulsi and other home remedies, but in vain. She is worried as the night advanced. With no signs of improvement. Worried vague she turns to her pillar of support Mr. Shiva ,a successful IT professional who works on coding and decoding of life projects decided to take an opinion from his most efficient and reliable friend Mr. Dharmaraj who is working on his pet project ‘Lokpala’. After a quick discussion, Shiva left office and decided to take his kids to Dr. Vishnu who heads the pediatric division of the world famous Dhanwantri Hospital.
Tests were carried out, and Dr. Vishnu diagnosed the virus as Influenza A and prescribed different medicines on the incumbent health needs. The mother took good care of the kids and in three days Little Ganesh was perfectly fit to play football. Karthik was again taken to the doctor who prescribed him with a new set of medicines. Looking at the plight of the younger brother, a disturbed Ganesh enquired with the doctor “Why have you not prescribed the correct medicine for my brother? Didn’t your teacher teach you correctly? Because of you, I am not having anyone to play with”. A visually stunned Dr. Vishnu smiled at little Ganesh and said, “it is your brother’s immune response and the genome to be blamed my dear”.
“Immune response? Genome? Now, what is that doctor uncle? Can you please tell me?” Parvathi and Shiva was equally enthusiastic as little Ganesh to know more about it.
Dr Vishnu with a smile of bliss replied:
“Most often today, the treatment plan doesn’t have all that much to do with you specifically. It’s identical to what doctors would hand over to essentially anyone with the same condition — your neighbor, the pani puri wala or the prime minister of our country gets the same medicine”.
Little Ganesh interrupts the doctor and asks, “But is it not wrong? I am small, my brother is younger to me and my parents are adults. All of us are treated with the same medicine?”
“Yes dear Ganesh. This is the system which we follow in our medical practice. Patients are not yet asking the question ‘Is this therapy going to work for me?’ I look forward to the day patients do ask that question.”
“But is that question relevant in today’s scenario doctor?” asked a confused Shiva.
“Yes”, nodded Dr Vishnu with a smile uttering the word “Personalized medicine”.
“Personalized medicine?” asked Parvathi.
Dr. Vishnu: “Though viral diseases are attributed to the immune responses of one’s body, Mutational diseases like cancer have much to do with personalized medicines”.
“It means providing ‘the right patient with the right drug at the right dose at the right time’. It is a kind of tailoring of medical treatment to the individual characteristics, needs, and preferences of the patient during all stages of health care including prevention, diagnosis, treatment, and follow-up .
“Sounds interesting! But how is it possible doctor? Do you mean to say, I can now on buy a tailor made medicine as how I tailor my shirt? ” asked Shiva the coder.
“Yes Mr. Shiva, The medicinal research is advancing towards this directions and FDA has approved more than 100 personalized medicines starting with the approval of trastuzumab (Herceptin, Genentech) for the treatment of HER2-positive breast cancers in 1998” .
“In fact, FDA commissioner Margaret A. Hamburg, MD, said in a press briefing that Now, with the advance of science and technology and the understanding of both the underlying mechanisms and the human response to disease, we have so many more opportunities to target therapies in exciting ways and really improve the care that we can offer and the effectiveness of treatments “.
“On January 31, 2012, the FDA approved ivacaftor (Kalydeco, Vertex Pharmaceuticals), the first-ever drug to address the underlying cause of cystic fibrosis among patients with a specific gene mutation.”
“But Doctor, How is it possible? On what basis does one tailor a medicine? Even if it could be tailored, It must be very expensive and time consuming too, right? By God’s grace I can afford, but how will it reach the mass?” asked Shiva.
Dr. Vishnu with his magical smile narrated the story, “It all started in the early 1980’s with The Human Genome Project. The DOE, US were interested in genetic research regarding health effects from radiation and chemical exposure and NIH were interested in gene sequencing, mutations and their biomedical implications of genetic variation. They initiated the Human Genome Project with objectives of constructing a high resolution genetic map of the human genome and produce physical map of all chromosomes with an estimated budget of $3 billion over a period of 15 years. With the advancement in sequencing technologies, they were able to release the first draft of the sequence in the year 2001. Since then, scientists across the world started working on the sequences trying to decipher newer knowledge about the DNA on a day to day basis.”
“Oh my God! $3 billion and 15 years?” sounded Parvathi.
“Yes Ms. Parvathi, though it was estimated for 15 years, the project was completed much earlier than expected with a lesser budget, thanks to the contributions made by Bioinformaticians. Their contributions to the development of new techniques in genome analysis have actually paved way for personalized medicine to develop at such a pace.” Said Dr. Shiva
“Oh doctor uncle, you are using lots of ‘jargons’, Can you please tell me what is this sequencing?” asked little Ganesh.
“My dear Ganesh, Let me make it understandable to you. Lord Brahma has written everything about you in 4 letters namely A, T, G, and C. The combinations of this four letter along with some external factors decide your physical and mental growth. So Scientists are trying their level best to decode these four letters from your body which is called the DNA and trying to use the information science to decipher more about you.”
He then turned to little Ganesh’s parents and said “DNA sequencing is used to determine the sequence of individual genes, larger genetic regions (i.e. clusters of genes or operons), full chromosomes or entire genomes. Sequencing provides the order of individual nucleotides present in molecules of DNA or RNA isolated from animals, plants, bacteria, archaea, or virtually any other source of genetic information . Information obtained using sequencing allows researchers to identify changes in genes, associations with diseases and phenotypes, and identify potential drug targets.”
“But remember Ganesh, Humans always have a limit to his findings. Nevertheless, that should not be a reason for not deciphering this magical code.”
“But, Will it be affordable?” asked Shiva
“The high demand for low-cost sequencing has driven the development of high-throughput sequencing (or next-generation sequencing (NGS)) technologies that parallelize the sequencing process, producing thousands or millions of sequences concurrently. High-throughput sequencing technologies are intended to lower the cost of DNA sequencing beyond what is possible with standard dye-terminator methods. NGS is the catch-all term used to describe a number of different modern sequencing technologies including Illumina (Solexa) sequencing, Roche 454 sequencing, Ion torrent: Proton / PGM sequencing, SOLiD sequencing. These recent technologies allow us to sequence DNA and RNA much more quickly and cheaply than the previously used Sanger sequencing, and as such have revolutionized the study of genomics and molecular biology. In ultra-high-throughput sequencing as many as 500,000 sequencing-by-synthesis operations may be run in parallel reducing the cost. I hope I have answered your queries too Shiva”, said the doctor. [3, 4]
“We are marching towards the target of human genome sequencing at $100, now that should take this to the masses, right Mr. Shiva?” asked the doctor.
Shiva was impressed with the advances in Health sciences.
“For your information Mr. Shiva and family, Elizabeth Mansfield, Director of the Personalized Medicine Staff at Center for Devices and Radiological Health (CDRH), explained that current next-generation sequencing technology is giving way for rapid and inexpensive examination of the DNA sequence of a patient’s cancer to help subclassify those who will respond to a particular drug.”
“The CDRH is also now collaborating with the National Institute of Standards and Technology on a project to create genetic reference materials via an open-access database that is expected to be available within a year. Information generated from next-generation sequencing will be added over time.”
“So doctor, Can I say that some of the specific advantages personalized medicine may offer patients and clinicians are the ability to make more informed medical decisions, Higher probability of desired outcomes because of better-targeted therapies, Reduced probability of negative side effects, Focus on prevention and prediction of disease rather than reaction to it, Earlier disease intervention than has been possible in the past, Reduced healthcare costs etc.? ” asked Shiva.
“Absolutely yes Mr. Shiva” said Dr. Vishnu.
“But beware Mr. Shiva, Personalized medicine is not to be confused with “genetic medicine.” Genetics, a field, is the study of heredity. It examines individual genes and their effects as they relate to biology and medicine. “Single cell” genetic diseases include muscular dystrophy, cystic fibrosis, and sickle cell anemia. However, even these seemingly “simple” hereditary disorders can be influenced by other genes, as well as by environmental factors such as diet and exposure to toxins”.
“Genomic and personalized medicine aims to tackle more complex diseases, such as cancer, heart disease, and diabetes, for years believed to be influenced primarily by environmental factors and their interaction with the human genome. It is now understood that because these diseases have strong multigene components—and in some cases might be caused by errors in the DNA between genes instead of within genes—they can be better understood using a whole-genome approach ”.
“So Doctor, Is personalized medicine only for sick people?” Asked Parvathi,
“Definitely not Ms. Parvathi. Because an individual’s genome influences his or her likelihood of developing or not developing a broad range of medical conditions, personalized medicine focuses strongly on wellness and disease prevention. For example, if a person’s genomic information indicates a higher-than-average risk of developing diabetes or a particular form of cancer, that person may choose a lifestyle, or sometimes be prescribed medications, to better regulate the aspects of health and wellness over which he or she has control. The person may benefit in the long run from making preventive lifestyle choices that will help counteract the biological risk. Genomic medicine may help determine a person’s risk of developing several specific medical conditions, including: Cancer, Cardiovascular disease, Neurodegenerative diseases, Diabetes, Obesity, Neuropsychiatric disorders” said Dr. Vishnu.
“Researchers are actively investigating the genomic and genetic mechanisms behind—and developing predictive testing for—such diverse medical conditions as Infectious diseases, from HIV/AIDS to the common cold. ” said Dr. Vishnu.
“Thank you Dr. Vishnu. You have enlightened our knowledge. I am looking forward for the day where the things we discussed is implemented at a lower cost to the masses” said Shiva.
“Me too Mr. Shiva, but I know, those days are not far away for sure”, said Dr. Vishnu.
Little Ganesh was very excited after listening to the whole discussion. Shiva and Family thanked the doctor for spending a quality time in explaining the personalized medicine and NGS.
“My dear little Ganesh, you can do a lot of contributions to this field when you grow up, This is going to be one of the most sought after field in medicine in coming years. In one of the most resounding endorsements for scientific initiatives, President Barack Obama recently announced that he would earmark up to $215 million for personalized medicine research in the 2016 federal budget, now that should make you interesting!” said Dr. Vishnu
“Now I Understood, doctor Uncle” said the little boy, rushing out of the clinic with a wink and a wicked smile ;).
Disclaimer: The conversation in this article is purely imaginative. The information used in this conversation belongs to the respective websites and their editors and the author does not in any manner take any credits to the scientific data furnished. This article is intended for knowledge transition at the academic level and public awareness.
Acknowledgement: The author thanks Mr. Harish Sankar for reviewing and providing with valuable inputs.