The idea of personalized medicine

The idea of personalized medicine

Personalized medicine represents a transition from the usual generalization technique applied to the treatment and care of patients with specific conditions to one which utilizes new technologies for better management of patients’ health. It aims at therapies to attain the best outcome in the management of a patient’s disease or disease predisposition. Humans are unique beings. Human health is determined by innate differences combined with their environment and lifestyle. This essay recognizes that through a combination of an analysis of information about human genome, with diagnostic and clinical information, patterns can be discovered that assist in determining each individual’s risk in the development of a particular disease, earlier detection of illness and identify the most effective measures of intervention to assist in health improvement either through simple diet changes, choices of lifestyle, and medicines.

The idea of personalized medicine has been in existence for a long time. There has been an active effort by clinicians to personalize care carved to people’s individual health needs throughout medical history. However, it has not been possible to predict how individual bodies might react to particular interventions or in identifying persons who might be at the most risk. There has been an emergence of new possibilities through a combination of new technologies such as wearable technology, data and informatics, and whole-genome sequencing. The interconnectedness between these innovations makes it possible to realize the era of truly personalized care.

In 2003, the Human Genome Project (HGP) was completed in 2003, and the quickly decreasing human genome costs facilitated the development of a new medical technique which is called personalized medicine (PM). Scientific and technological advances are already driving human society and will continue to improve and develop medical practice; change is, as they say, is inevitable. Germany should consider not whether the country adapts personalized medicine but how the health care system can best respond and adapt, ensuring every person stands to benefit despite their residential area, illness, or the place of care provision. Germany is on a pathway to developing a personalized medicine approach into mainstream healthcare. There are already deliberations as to the meaning of personalized medicine and how it will work now and in the future. The discussion also involves the technique that will be used, and also how to ensure that economic, equality, and ethical considerations are fully understood and addressed.

Through a groundbreaking global initiative, 100,000 Genome Project, a groundbreaking and world-leading initiative, the establishment of collaborations with industry and academia to decode the human genome in people with rare cancer and other diseases will prove significant. This will assist in the prediction of future development of disease to make a previously non-existent diagnosis and identify treatments where possible.

The term personalized medicine began to be used in the late 1990s and was heavily marked by pharmacogenomics and the promise of developing adequate drugs for the genetic characteristics of population subgroups. However, the meaning has evolved where some authors are in defense of a more comprehensive approach, including molecular and genetic information, including clinical data, diet, lifestyle, and other biomarkers. The European Science Association took another approach to personalized medicine, where it defined it as follows.

”A new approach to classifying, understanding, treating, and preventing disease based on individual biological and environmental differences. It seeks to integrate data on the entire dynamic biological makeup of each individual as well as the environmental and lifestyle factors that interface with this makeup to generate a complex, individual phenotype”.

The complexity of the disease process in the common non-communicable diseases has raised several skepticisms. Unlike monogenetic diseases, most of the non-communicable diseases are caused by complexities of interactions several genes with factors within the environment, creating a major challenge for the realization of PM. However, PM still has little to offer in terms of the treatment of complex multifactorial diseases, except the field of oncology.

Since 2005, complete genomic sequencing became more accessible; thus, it became faster and less expensive with the introduction of a new generation sequencing. However, it has not proven useful in the clinical practice except for rare genetic diseases where it is used for purposes of diagnostics, avoiding the need for patient transfer from one specialist to another, and the need for several tests to attain a diagnosis. Gene therapy, which includes genome editing, has garnered significant momentum since the development of the CRISPR/Cas9 system (Clustered Regularly Interspaced Short Palindromic Repeats) in 2012. This instrument has been revolutionary considering its low cost, precision, speed, and ease of use with a vast potential for the PM to put in place a pathway to correcting genetic mutations in rare and complex diseases. CRISPR/Cas9 performs its role as a scissor that can identify and cut segments of DNA pasting or replacing pieces of genetic code. The pharmaceutical industry is heavily investing in research of its use in clinical practice; however, several technical obstacles need to be dealt with to achieve its full therapeutic potential.

In terms of predictive tests, defenders of PM usually refer to the genetic tests for the BRCA1 and two mutations, indicated to assess the risk of developing hereditary ovarian cancer and breast cancer as a successful example of tests that can indicate lifetime risk of sixty-five percent for ovarian cancer and eight-five percent for breast cancer. These tests present a suggestion about the greater frequency of mammograms, chemotherapy, and prophylactic surgery and identifying other members of the family who are at risk. Despite the availability of these tests for clinical practice since the mid-1990s, they have garnered great visibility after the announcement by Angelina Jolie in 2013 that she was a carrier of the BRCA1/2 gene mutations and had gone through a prophylactic mastectomy. The “Angelina Jolie effect” saw an increase in demand for BRCA1/2 tests by women from several countries, but it did not lead to a subsequent increase in the rates of mastectomy. Media and celebrities have a huge influence on the behavior of patients; however, questions have been raised about the need to provide the public with necessary high-quality information to prevent the oversupply of tests from individuals with low risks.

The concerns of tests arise due to the increased supply of genetic tests directly to consumers through companies like Miroculus, uBiome, and 23andMe. For instance, 23andMe performs genetic tests to inform people about their genetic and ancestry susceptibilities, measuring risks for a series of conditions such as hereditary hemochromatosis, Alzheimer’s disease, Parkinson’s disease, hereditary thrombophilia, and macular degeneration. The procedure entails the consumer ordering for the kit online, and the company later mails it. The consumer collects the sample at home and submits to the company by mail, where they get results several weeks later. In 2018, the Food and Drug Administration (FDA) announced the approval of 23andMe for the direct marketing of BRCA1/2 to consumers with no need for medical prescription or genetic counseling. This approval announcement raised criticism from physicians and researchers regarding, who informed the public that the commercial test was only limited to the identification of genetic variants found in Ashkenazi Jewish Women and rare among the overall population.

Although companies expressed enthusiasm in marketing the genetic tests, the promise of estimating genetic susceptibility based on polymorphisms for complex diseases such as schizophrenia, depression, cardiorespiratory diseases, diabetes, and cancer have not yet materialized. Research on Full Genome association has pointed to the modest associations of genetics with a slight increase in the risk of disease and the little predictive value when compared to the contributions behavioral and social factors, family history, and environmental risks.