WHAT IS PRECISION MEDICINE?

Laleen Saeed, MS, NUST
Precision Medicine is the customization of treatment to the distinctive characteristics of a patient. The individuals are divided into various subpopulations that are diverse not only in the genetic material but also in the environment and lifestyle. This results in the diversity of the patient response to susceptibility to certain diseases, diversity in responses to certain treatments which results in wastage of resources, ineffective treatments, and sometimes harmful side effects. Precision medicine accounts for this diversity providing the targeted approach for treatment.

Genetic sequencing, patient data about lifestyle, occupation, environment, and in some cases(Precision Psychiatry) even social media information can be used to determine the risk of having a disease, the disease process, and drug response.

ROLE IN CANCER

According to the report of the World Health Organization cancer is one of the leading causes of death which resulted in about 10 million deaths in 2020. Therefore, effective treatments are needed to reduce the mortality rate, as well as a diagnosis at an early stage, is required. In precision medicine, cancer the various genes that predispose an individual to a specific type of cancer or are the cause of cancer is studied. The studies then help the researches to develop specific treatments to treat cancer as well as a various test can be developed that helps prevent it. Precision medicine provides effective medications to treat cancers that do not respond to traditional medications and targeting specifically the cancer cells and not the healthy cells.

A study conducted at Dana-Farber Cancer Institute and in Japan showed that individuals who contained a mutation in the EGFR gene produced an abnormal EGFR protein in non-small cell lung cancer showed no response to the available medication. Whereas a treatment that targets the abnormal EGFR protein has shown success in the treatment of non-small lung cancer cells. Patients treated with such drugs live at an average of three or more while some making it to about five years.

THE PUZZLE

Genetic sequencing is only one part of precision medicine and getting the DNA sequence read for a single person let alone a whole population is a costly business. Another problem is regarding data analysis, the availability of enough Sharing platforms. An ethical, social problem arises regarding the sharing of this data. How many people get to see it and can a satisfactory level of privacy be achieved? Will the patient themselves want to know what their DNA holds? Do I want to know I am at risk for a particular kind of life-threatening cancer? How will that knowledge affect me and my prospects in life? Will employers are able to reject certain candidates on the basis of their genome And the practical question, how is this integrated into our healthcare system?

THE PROMISE

The benefits that precision medicine seem to provide are many

  • Early disease prevention
  • Effective treatment
  • Avoiding harmful treatment responses
  • Predict susceptibility to disease
  • Improve disease detection
  • Reduce the time, cost, and failure rate of pharmaceutical clinical trials
  • Eliminate trial-and-error inefficiencies that inflate health care costs and undermine patient care

PRECISION  MEDICINE: A Dream For Low Economic Countries

The next important question will such a technology work in countries like which suffers from low resources. So, my answer to this is YES. A report has stated that Pakistan is among the countries that are considered to be the riskiest for the birth of newborn babies. In order to improve birth pregnancy outcomes precision medicine plays an important role in it.

A team of researchers at The Aga Khan University, Pakistan is currently involved in developing a machine-learning algorithm to predict adverse pregnancy outcomes (i.e. stillbirth and early neonatal mortality) in peri-urban settlements of Karachi. Once developed, this tool can then be used as a diagnostic modality to “precisely” identify at-risk pregnant women at a population level hence improving newborn outcomes. This is where precision medicine and public health would be united to not only improve individual outcomes but also population health indicators.

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