Table of contents

The day of “one-size-fits-all” medicine is ending

Genomics: Unlocking the Code of Life

Genetic profiling of tumors may help determine treatments

 Rare Disease: Seeking Clues from the Genome

 The 2025 Horizon: Broader Adoption and Availability

They must, however, also consider and challenge

The Future is Personal

The day of “one-size-fits-all” medicine is ending

A revolution has begun, sparked by explosive progress in genomics.

Personalized medicine, in which treatments are carefully customized to each person’s individual genetic profile, will see its mainstream launch by 2025.

This paradigm change, enabled by potent genomic assays and targeted therapies, has the potential to be transformative, especially in the area of cancer and rare diseases.

Genomics: Unlocking the Code of Life

The field of genomics—the study of the complete set of genes (genomes) of an organism—has come a long way.

Sequencing a human genome has become so cheap that it’s within reach of more people.

This has resulted in the discovery of thousands of genetic variants linked to a multitude of diseases.

Now, rather than just waiting until someone has cancer and then using population-based treatments to get rid of it, we can go into the individual’s genetic blueprint and know how susceptible that person is to diseases, how that person likely will respond to medication, and even the individual characteristics of that person’s tumors.

Genetic profiling of tumors may help determine treatments.

Oncology is leading this revolution. Cancer is a genomic disease—genetic mutations drive unregulated cell growth.

Genetic testing of tumors helps oncologists find these specific mutations that drive cancer growth and choose targeted therapies that directly attack those mutations.

Such an approach—called precision oncology—has resulted in significant increases in survival rates for some types of cancer.

For instance, a lung cancer patient may have their tumor sequenced, and the result shows that there is a specific mutation in the EGFR gene. Rather than undergoing conventional chemotherapy, they may get a targeted EGFR inhibitor, a drug intended to block the activity of the mutated protein.

By customizing treatment in this way, side effects are limited by preventing unnecessary exposure to toxic chemotherapy drugs designed for the broad average rather than the individual patient.

 Rare Disease: Seeking Clues from the Genome

Such genetic mutations can lead to rare diseases, which can be difficult to diagnose and treat. Genomic sequencing is rapidly becoming a critical tool for determining the genetic basis of these diseases, in many cases bringing a long diagnostic odyssey to a close for patients and their families. Once the defective gene(s) has been identified, targeted therapies can be implemented or existing drugs can be repurposed to treat the specific genetic defect.

In addition, breakthroughs in gene therapy are enabling potential cures for certain rare genetic disorders. Gene therapy acts to reverse the course of disease by delivering normal-functioning copies of defective genes.

 The 2025 Horizon: Broader Adoption and Availability

Genomic testing and personalized medicine will be increasingly adopted across all specialties by 2025. The price for genomic sequencing will keep diminishing so that patients will have access to it more readily. In addition, advances in bioinformatics tools and artificial intelligence algorithms will facilitate the processing and interpretation of genomic data, allowing clinicians to make more accurate treatment decisions.

They must, however, also consider and challenge:

The potential of personalized medicine is huge, but multiple hurdles are present. As genomic data is highly sensitive, data privacy and security become critical. However, patients’ socioeconomic status and geographic location should not dictate whether they are able to benefit from these advancements; thus, equitable access to genomic testing and targeted therapies is critical. There are also ethical dilemmas that should be considered in the context of genetic testing and discrimination possibilities.

The Future is Personal:

The shift to personalized medicine goes beyond sheer technology; it represents a sea change in our approach to health care. To quote Shakespeare, “To thine own self be true.” By understanding the individual genetic makeup of a patient, we can shift from a reactive model of treating disease to a proactive model of prevention and management. With only a few years between 2023 and 2025, this idea of highly personalized medicine becomes a reality, transforming how we treat patients—something that will be integral in achieving a more effective and better attuned model of compassion in healthcare.